VPS13B (vacuolar protein sorting 13 homolog B) - Rat Genome Database

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Gene: VPS13B (vacuolar protein sorting 13 homolog B) Homo sapiens
Analyze
Symbol: VPS13B
Name: vacuolar protein sorting 13 homolog B
RGD ID: 1317598
HGNC Page HGNC:2183
Description: Predicted to enable phosphatidylinositol-3-phosphate binding activity. Involved in several processes, including Golgi reassembly; adipose tissue development; and slow endocytic recycling. Located in Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment membrane. Implicated in Cohen syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BLTP5B; bridge-like lipid transfer protein family member 5B; CHS1; COH1; cohen syndrome protein 1; DKFZp313I0811; intermembrane lipid transfer protein VPS13B; KIAA0532; vacuolar protein sorting 13 homolog B (yeast); vacuolar protein sorting 13B; vacuolar protein sorting-associated protein 13B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38899,013,274 - 99,877,580 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl899,013,266 - 99,877,580 (+)EnsemblGRCh38hg38GRCh38
GRCh378100,025,502 - 100,889,808 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,094,670 - 100,958,984 (+)NCBINCBI36Build 36hg18NCBI36
Build 348100,094,669 - 100,659,188NCBI
Celera896,211,225 - 97,075,608 (+)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef895,228,270 - 96,092,444 (+)NCBIHuRef
CHM1_18100,066,127 - 100,930,595 (+)NCBICHM1_1
T2T-CHM13v2.08100,138,009 - 101,002,539 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
caffeine  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper(II) chloride  (EXP)
crocidolite asbestos  (ISO)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
doxorubicin  (EXP)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
Heliotrine  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
irinotecan  (ISO)
maneb  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (EXP,ISO)
methotrexate  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
phenobarbital  (ISO)
potassium chromate  (EXP)
resveratrol  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (EXP,ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
uranium atom  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the nervous system  (IAGP)
Aphthous ulcer  (IAGP)
Aplasia/Hypoplasia of the earlobes  (IAGP)
Aplasia/Hypoplasia of the tongue  (IAGP)
Arachnodactyly  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Bull's eye maculopathy  (IAGP)
Carious teeth  (IAGP)
Cat cry  (IAGP)
Cerebellar hypoplasia  (IAGP)
Childhood-onset truncal obesity  (IAGP)
Chorioretinal dystrophy  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Convex nasal ridge  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Decreased fetal movement  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed ability to walk  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Downslanted palpebral fissures  (IAGP)
Facial hypotonia  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Finger syndactyly  (IAGP)
Generalized joint hypermobility  (IAGP)
Genu valgum  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
High myopia  (IAGP)
High, narrow palate  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Laryngomalacia  (IAGP)
Leukopenia  (IAGP)
Long eyelashes  (IAGP)
Low anterior hairline  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macrodontia  (IAGP)
Macrodontia of permanent maxillary central incisor  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Mild hearing impairment  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Myopia  (IAGP)
Narrow foot  (IAGP)
Narrow palate  (IAGP)
Narrow palm  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Neutropenia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor suck  (IAGP)
Preauricular skin tag  (IAGP)
Progressive visual loss  (IAGP)
Prominent eyelashes  (IAGP)
Prominent nasal bridge  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Reduced visual acuity  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Sandal gap  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Slender toe  (IAGP)
Small for gestational age  (IAGP)
Small hand  (IAGP)
Strabismus  (IAGP)
Tapered finger  (IAGP)
Thick corpus callosum  (IAGP)
Thick eyebrow  (IAGP)
Thick hair  (IAGP)
Thick vermilion border  (IAGP)
Thoracic scoliosis  (IAGP)
Tooth agenesis  (IAGP)
Truncal obesity  (IAGP)
Unsteady gait  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Weak cry  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Kolehmainen J, etal., Am J Hum Genet 2003 Jun;72(6):1359-69. Epub 2003 May 2.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7920642   PMID:8125298   PMID:9359041   PMID:9628581   PMID:12477932   PMID:14702039   PMID:15141358   PMID:15154116   PMID:15498460   PMID:17081983   PMID:17990063   PMID:18655112  
PMID:19006247   PMID:19320733   PMID:19533689   PMID:19680589   PMID:19913121   PMID:20301655   PMID:20360068   PMID:20461111   PMID:20628086   PMID:20656880   PMID:21353197   PMID:21865173  
PMID:22745009   PMID:23455922   PMID:24311531   PMID:24665060   PMID:25060287   PMID:25492866   PMID:26104215   PMID:26186194   PMID:26358774   PMID:26496610   PMID:28514442   PMID:28611215  
PMID:28631888   PMID:29149870   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29758347   PMID:29987050   PMID:30021884   PMID:30602132   PMID:30639242   PMID:30962439   PMID:31444703  
PMID:31580008   PMID:31752730   PMID:31825161   PMID:31871319   PMID:32375900   PMID:32505691   PMID:32560273   PMID:32707033   PMID:32877691   PMID:32915983   PMID:33025479   PMID:33547071  
PMID:33957083   PMID:33961781   PMID:34041686   PMID:34079125   PMID:34432599   PMID:34702444   PMID:35384245   PMID:35690661   PMID:35944360   PMID:36243803   PMID:37090188   PMID:37774976  
PMID:38334954   PMID:38771357   PMID:39352497  


Genomics

Comparative Map Data
VPS13B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38899,013,274 - 99,877,580 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl899,013,266 - 99,877,580 (+)EnsemblGRCh38hg38GRCh38
GRCh378100,025,502 - 100,889,808 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,094,670 - 100,958,984 (+)NCBINCBI36Build 36hg18NCBI36
Build 348100,094,669 - 100,659,188NCBI
Celera896,211,225 - 97,075,608 (+)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef895,228,270 - 96,092,444 (+)NCBIHuRef
CHM1_18100,066,127 - 100,930,595 (+)NCBICHM1_1
T2T-CHM13v2.08100,138,009 - 101,002,539 (+)NCBIT2T-CHM13v2.0
Vps13b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391535,371,264 - 35,931,375 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1535,371,306 - 35,931,375 (+)EnsemblGRCm39 Ensembl
GRCm381535,371,118 - 35,931,229 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1535,371,160 - 35,931,229 (+)EnsemblGRCm38mm10GRCm38
MGSCv371535,301,301 - 35,860,984 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361535,315,749 - 35,875,818 (+)NCBIMGSCv36mm8
Celera1535,993,318 - 36,557,254 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1514.46NCBI
Vps13b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8768,436,996 - 69,013,574 (+)NCBIGRCr8
mRatBN7.2766,557,862 - 67,128,429 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl766,558,471 - 67,128,429 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx768,447,001 - 69,016,940 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0770,649,629 - 71,219,546 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0770,517,478 - 71,087,415 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0774,118,834 - 74,722,341 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl775,852,610 - 75,858,812 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_5.0774,281,753 - 74,879,196 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4770,839,616 - 71,464,951 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1770,860,765 - 71,486,400 (+)NCBI
Celera763,647,181 - 64,211,271 (+)NCBICelera
Cytogenetic Map7q22NCBI
Vps13b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541714,570,904 - 15,227,877 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541714,570,399 - 15,228,106 (+)NCBIChiLan1.0ChiLan1.0
VPS13B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27116,363,832 - 117,232,626 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1891,905,413 - 92,771,553 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0895,659,443 - 96,525,316 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1897,837,674 - 98,700,162 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl897,860,720 - 98,698,271 (+)Ensemblpanpan1.1panPan2
VPS13B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1131,101,226 - 1,834,933 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl131,101,610 - 1,871,225 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha131,096,682 - 1,830,492 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0131,253,509 - 1,988,060 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl131,253,722 - 1,988,056 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1131,096,002 - 1,830,212 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0131,203,819 - 1,943,474 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0131,210,806 - 1,944,933 (+)NCBIUU_Cfam_GSD_1.0
Vps13b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530335,855,538 - 36,526,292 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647043,281,469 - 43,951,805 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647043,281,905 - 43,952,523 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VPS13B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl437,090,936 - 37,820,419 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1437,085,929 - 37,821,159 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2440,006,383 - 40,389,291 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VPS13B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1893,899,666 - 94,737,123 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl893,901,284 - 94,735,262 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603945,953,328 - 46,821,705 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vps13b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247636,102,674 - 6,864,817 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247636,101,943 - 6,866,457 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VPS13B
5697 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs) microsatellite Cohen syndrome [RCV001526591] Chr8:99501695..99501696 [GRCh38]
Chr8:100513923..100513924 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) single nucleotide variant Cohen syndrome [RCV001083496]|Inborn genetic diseases [RCV002404336]|VPS13B-related disorder [RCV003915464]|not provided [RCV000516628] Chr8:99778912 [GRCh38]
Chr8:100791140 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) single nucleotide variant Cohen syndrome [RCV003133304]|not provided [RCV000522156] Chr8:99156553 [GRCh38]
Chr8:100168781 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile) single nucleotide variant Cohen syndrome [RCV000634110]|VPS13B-related disorder [RCV004742481]|not provided [RCV004791512]|not specified [RCV000518389] Chr8:99481638 [GRCh38]
Chr8:100493866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn) single nucleotide variant Cohen syndrome [RCV001327175]|not provided [RCV000520758]|not specified [RCV005056117] Chr8:99520938 [GRCh38]
Chr8:100533166 [GRCh37]
Chr8:8q22.2		 likely pathogenic|uncertain significance
NC_000008.11:g.(?_99121157)_(99193077_?)del deletion Cohen syndrome [RCV000532402] Chr8:99121157..99193077 [GRCh38]
Chr8:100133385..100205305 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) deletion Cohen syndrome [RCV000552220]|not provided [RCV001805152] Chr8:99809475..99809476 [GRCh38]
Chr8:100821703..100821704 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) microsatellite Cohen syndrome [RCV000002952]|not provided [RCV000058939] Chr8:99442536..99442537 [GRCh38]
Chr8:100454764..100454765 [GRCh37]
Chr8:8q22.2		 pathogenic|not provided
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg) single nucleotide variant Cohen syndrome [RCV000002953] Chr8:99717219 [GRCh38]
Chr8:100729447 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) single nucleotide variant Cohen syndrome [RCV000002954]|not provided [RCV001562523] Chr8:99720973 [GRCh38]
Chr8:100733201 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) single nucleotide variant Cohen syndrome [RCV000002955]|Inborn genetic diseases [RCV002313703]|not provided [RCV000513475]|not specified [RCV000081920] Chr8:99820031 [GRCh38]
Chr8:100832259 [GRCh37]
Chr8:8q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) single nucleotide variant Cohen syndrome [RCV000002956] Chr8:99511275 [GRCh38]
Chr8:100523503 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) single nucleotide variant Cohen syndrome [RCV000002957]|Inborn genetic diseases [RCV000624804]|not provided [RCV004786234] Chr8:99384294 [GRCh38]
Chr8:100396522 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) single nucleotide variant Cohen syndrome [RCV000002958] Chr8:99784394 [GRCh38]
Chr8:100796622 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) single nucleotide variant Cohen syndrome [RCV000002959] Chr8:99854202 [GRCh38]
Chr8:100866430 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) single nucleotide variant Cohen syndrome [RCV000002961]|Inborn genetic diseases [RCV002512689]|VPS13B-related disorder [RCV004742208]|not provided [RCV004812294] Chr8:99818473 [GRCh38]
Chr8:100830701 [GRCh37]
Chr8:8q22.2		 pathogenic|uncertain significance
NG_007098.2:g.(94856_102832)_(161899_184610)del deletion Cohen syndrome [RCV000002962] Chr8:8q22-q23 pathogenic
VPS13B, 1-BP DEL, 11564A deletion Cohen syndrome [RCV000002963] Chr8:8q22-q23 pathogenic
NG_007098.2:g.(809539_810185)_(813218_815566)del deletion Cohen syndrome [RCV000002964] Chr8:8q22-q23 pathogenic
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs) deletion Cohen syndrome [RCV002528243]|not provided [RCV000519738] Chr8:99817728 [GRCh38]
Chr8:100829956 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8758C>T (p.Pro2920Ser) single nucleotide variant not specified [RCV000516680] Chr8:99819548 [GRCh38]
Chr8:100831776 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2764C>T (p.Pro922Ser) single nucleotide variant Cohen syndrome [RCV001834679]|VPS13B-related disorder [RCV003925551]|not specified [RCV000516218] Chr8:99275194 [GRCh38]
Chr8:100287422 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) duplication Cohen syndrome [RCV000002960]|Inborn genetic diseases [RCV001266139]|VPS13B-related disorder [RCV004742207]|not provided [RCV000058940] Chr8:99823831..99823832 [GRCh38]
Chr8:100836059..100836060 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) microsatellite Cohen syndrome [RCV000050041] Chr8:99848832..99848833 [GRCh38]
Chr8:100861060..100861061 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) duplication Cohen syndrome [RCV000050042]|not provided [RCV001571767] Chr8:99853469..99853470 [GRCh38]
Chr8:100865697..100865698 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) microsatellite Cohen syndrome [RCV000050043] Chr8:99854152..99854155 [GRCh38]
Chr8:100866380..100866383 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) single nucleotide variant Cohen syndrome [RCV000050044]|not provided [RCV000433192] Chr8:99859307 [GRCh38]
Chr8:100871535 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) deletion Cohen syndrome [RCV000050045] Chr8:99861779 [GRCh38]
Chr8:100874007 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) duplication Cohen syndrome [RCV000050046] Chr8:99861824..99861825 [GRCh38]
Chr8:100874052..100874053 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) single nucleotide variant Cohen syndrome [RCV000050047] Chr8:99861872 [GRCh38]
Chr8:100874100 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) single nucleotide variant Cohen syndrome [RCV000050048]|Short stature [RCV000415410]|not provided [RCV000599109] Chr8:99868312 [GRCh38]
Chr8:100880540 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) deletion Cohen syndrome [RCV000050049] Chr8:99870820 [GRCh38]
Chr8:100883048 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) duplication Cohen syndrome [RCV000050050] Chr8:99870872..99870873 [GRCh38]
Chr8:100883100..100883101 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) deletion Cohen syndrome [RCV000050051] Chr8:99870881 [GRCh38]
Chr8:100883109 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs) deletion Cohen syndrome [RCV000050052] Chr8:99871475 [GRCh38]
Chr8:100883703 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) deletion Cohen syndrome [RCV000050053]|VPS13B-related disorder [RCV004742239]|not provided [RCV000627421] Chr8:99871569..99871572 [GRCh38]
Chr8:100883797..100883800 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys) indel Cohen syndrome [RCV000050054] Chr8:99871657..99871661 [GRCh38]
Chr8:100883885..100883889 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) duplication Cohen syndrome [RCV000050055]|Inborn genetic diseases [RCV002313737]|VPS13B-related disorder [RCV003982870]|not provided [RCV000081876] Chr8:99875420..99875421 [GRCh38]
Chr8:100887648..100887649 [GRCh37]
Chr8:8q22.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) deletion Cohen syndrome [RCV000050056] Chr8:99875502..99875511 [GRCh38]
Chr8:100887730..100887739 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) duplication Cohen syndrome [RCV000050057]|not provided [RCV000058889] Chr8:99875499..99875500 [GRCh38]
Chr8:100887727..100887728 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) single nucleotide variant Cohen syndrome [RCV000050058]|Global developmental delay [RCV000491892]|not provided [RCV000412863] Chr8:99134644 [GRCh38]
Chr8:100146872 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) single nucleotide variant Cohen syndrome [RCV000050059]|not provided [RCV000364554] Chr8:99134650 [GRCh38]
Chr8:100146878 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) deletion Cohen syndrome [RCV000050060]|not provided [RCV004700353] Chr8:99134692..99134696 [GRCh38]
Chr8:100146920..100146924 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1844-2A>G single nucleotide variant Cohen syndrome [RCV000050061] Chr8:99147839 [GRCh38]
Chr8:100160067 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) deletion Cohen syndrome [RCV000050062] Chr8:99156581 [GRCh38]
Chr8:100168809 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) single nucleotide variant Cohen syndrome [RCV000050063]|not provided [RCV000058892] Chr8:99156609 [GRCh38]
Chr8:100168837 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) indel Cohen syndrome [RCV000050064] Chr8:99038494..99038495 [GRCh38]
Chr8:100050722..100050723 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) indel Cohen syndrome [RCV000050065] Chr8:99013810..99013811 [GRCh38]
Chr8:100026038..100026039 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2651-1G>A single nucleotide variant Cohen syndrome [RCV000050066] Chr8:99275080 [GRCh38]
Chr8:100287308 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) duplication Cohen syndrome [RCV000050067]|not provided [RCV000058893] Chr8:99275156..99275157 [GRCh38]
Chr8:100287384..100287385 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) single nucleotide variant Cohen syndrome [RCV000050068]|not provided [RCV000269979] Chr8:99384272 [GRCh38]
Chr8:100396500 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.292-2A>G single nucleotide variant Cohen syndrome [RCV000050069] Chr8:99096310 [GRCh38]
Chr8:100108538 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2934+1_2934+2del deletion Cohen syndrome [RCV000050070]|not provided [RCV000058894] Chr8:99384318..99384319 [GRCh38]
Chr8:100396546..100396547 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) single nucleotide variant Cohen syndrome [RCV000050071]|VPS13B-related disorder [RCV004742240]|not provided [RCV000422497] Chr8:99442617 [GRCh38]
Chr8:100454845 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter) single nucleotide variant Cohen syndrome [RCV000050072] Chr8:99467586 [GRCh38]
Chr8:100479814 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3666+2T>C single nucleotide variant Cohen syndrome [RCV000050073] Chr8:99467636 [GRCh38]
Chr8:100479864 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) duplication Cohen syndrome [RCV000050074]|not provided [RCV001090388] Chr8:99096422..99096423 [GRCh38]
Chr8:100108650..100108651 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) deletion Cohen syndrome [RCV000050075] Chr8:99511138 [GRCh38]
Chr8:100523366 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) duplication Cohen syndrome [RCV000050076] Chr8:99511198..99511199 [GRCh38]
Chr8:100523426..100523427 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) single nucleotide variant Cohen syndrome [RCV000050077]|not provided [RCV001804786] Chr8:99511215 [GRCh38]
Chr8:100523443 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) deletion Cohen syndrome [RCV000050078] Chr8:99511276 [GRCh38]
Chr8:100523504 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) microsatellite Cohen syndrome [RCV000050079]|not specified [RCV003317070] Chr8:99511279..99511281 [GRCh38]
Chr8:100523507..100523509 [GRCh37]
Chr8:8q22.2		 likely pathogenic|uncertain significance
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) duplication Cohen syndrome [RCV000050080] Chr8:99511371..99511372 [GRCh38]
Chr8:100523599..100523600 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) microsatellite Cohen syndrome [RCV000050081]|Inborn genetic diseases [RCV002336201]|not provided [RCV004799768] Chr8:99103003..99103006 [GRCh38]
Chr8:100115231..100115234 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.4745+2T>C single nucleotide variant Cohen syndrome [RCV000050082] Chr8:99521012 [GRCh38]
Chr8:100533240 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) duplication Cohen syndrome [RCV000050083]|not provided [RCV000058895] Chr8:99556505..99556506 [GRCh38]
Chr8:100568733..100568734 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) deletion Cohen syndrome [RCV000050084]|not provided [RCV000058898] Chr8:99577552..99577569 [GRCh38]
Chr8:100589780..100589797 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) duplication Cohen syndrome [RCV000050085] Chr8:99641843..99641844 [GRCh38]
Chr8:100654071..100654072 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) microsatellite Cohen syndrome [RCV000050086]|not provided [RCV000058899] Chr8:99641938..99641939 [GRCh38]
Chr8:100654166..100654167 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) duplication Cohen syndrome [RCV000050087]|not provided [RCV000058900] Chr8:99641973..99641974 [GRCh38]
Chr8:100654201..100654202 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) insertion Cohen syndrome [RCV000050088] Chr8:99642128..99642129 [GRCh38]
Chr8:100654356..100654357 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) duplication Cohen syndrome [RCV000050089] Chr8:99642245..99642246 [GRCh38]
Chr8:100654473..100654474 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) deletion Cohen syndrome [RCV000050090] Chr8:99642265 [GRCh38]
Chr8:100654493 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) deletion Cohen syndrome [RCV000050091] Chr8:99642323..99642324 [GRCh38]
Chr8:100654551..100654552 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) single nucleotide variant Cohen syndrome [RCV000050092] Chr8:99642342 [GRCh38]
Chr8:100654570 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) deletion Cohen syndrome [RCV000050093] Chr8:99111142..99111143 [GRCh38]
Chr8:100123370..100123371 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) deletion Cohen syndrome [RCV000050094] Chr8:99699822..99699823 [GRCh38]
Chr8:100712050..100712051 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) deletion Cohen syndrome [RCV000050095] Chr8:99717327 [GRCh38]
Chr8:100729555 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6657+1G>A single nucleotide variant Cohen syndrome [RCV000050096]|Inborn genetic diseases [RCV002362686]|VPS13B-related disorder [RCV003407433]|not provided [RCV000058902] Chr8:99717374 [GRCh38]
Chr8:100729602 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.6658-2A>G single nucleotide variant Cohen syndrome [RCV000050097]|not provided [RCV000417726] Chr8:99720343 [GRCh38]
Chr8:100732571 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) single nucleotide variant Cohen syndrome [RCV000050098]|VPS13B-related disorder [RCV003905014] Chr8:99720944 [GRCh38]
Chr8:100733172 [GRCh37]
Chr8:8q22.2		 likely pathogenic|uncertain significance
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) deletion Cohen syndrome [RCV000050099] Chr8:99766869 [GRCh38]
Chr8:100779097 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7429+1G>A single nucleotide variant Cohen syndrome [RCV000050100] Chr8:99776957 [GRCh38]
Chr8:100789185 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) single nucleotide variant Cohen syndrome [RCV000050101] Chr8:99778780 [GRCh38]
Chr8:100791008 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) single nucleotide variant Cohen syndrome [RCV000050102] Chr8:99778787 [GRCh38]
Chr8:100791015 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) deletion Cohen syndrome [RCV000050103] Chr8:99784395 [GRCh38]
Chr8:100796623 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) single nucleotide variant Cohen syndrome [RCV000050104] Chr8:99809477 [GRCh38]
Chr8:100821705 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) deletion Cohen syndrome [RCV000050105] Chr8:99817708 [GRCh38]
Chr8:100829936 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) single nucleotide variant Cohen syndrome [RCV000050106]|not provided [RCV001550946] Chr8:99818486 [GRCh38]
Chr8:100830714 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) single nucleotide variant Cohen syndrome [RCV000050107]|not provided [RCV000579214] Chr8:99818529 [GRCh38]
Chr8:100830757 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) deletion Cohen syndrome [RCV000050108] Chr8:99818801 [GRCh38]
Chr8:100831029 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8622-2A>G single nucleotide variant Cohen syndrome [RCV000050109] Chr8:99819410 [GRCh38]
Chr8:100831638 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8622-9A>G single nucleotide variant Cohen syndrome [RCV000050110]|not provided [RCV000412777] Chr8:99819403 [GRCh38]
Chr8:100831631 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) deletion Cohen syndrome [RCV000050111] Chr8:99115852..99115853 [GRCh38]
Chr8:100128080..100128081 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9331-1G>T single nucleotide variant Cohen syndrome [RCV000050112]|VPS13B-related disorder [RCV003415820]|not provided [RCV003313035] Chr8:99832368 [GRCh38]
Chr8:100844596 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.9615-2A>G single nucleotide variant Cohen syndrome [RCV000050113] Chr8:99835195 [GRCh38]
Chr8:100847423 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) deletion Cohen syndrome [RCV000050114] Chr8:99835213 [GRCh38]
Chr8:100847441 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) deletion Cohen syndrome [RCV000050115] Chr8:99835238 [GRCh38]
Chr8:100847466 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) single nucleotide variant Cohen syndrome [RCV000050204]|Inborn genetic diseases [RCV001267010]|VPS13B-related disorder [RCV004742241]|not provided [RCV000523583] Chr8:99575719 [GRCh38]
Chr8:100587947 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
GRCh38/hg38 8q22.2(chr8:99278660-99451719)x1 copy number loss See cases [RCV000051138] Chr8:99278660..99451719 [GRCh38]
Chr8:100290888..100463947 [GRCh37]
Chr8:100360064..100533123 [NCBI36]
Chr8:8q22.2		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.2(chr8:98920719-99451919)x1 copy number loss See cases [RCV000052788] Chr8:98920719..99451919 [GRCh38]
Chr8:99932947..100464147 [GRCh37]
Chr8:100002123..100533323 [NCBI36]
Chr8:8q22.2		 uncertain significance
GRCh38/hg38 8q22.2(chr8:99230249-99332189)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052789]|See cases [RCV000052789] Chr8:99230249..99332189 [GRCh38]
Chr8:100242477..100344417 [GRCh37]
Chr8:100311653..100413593 [NCBI36]
Chr8:8q22.2		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_017890.4(VPS13B):c.7471C>T (p.His2491Tyr) single nucleotide variant Malignant melanoma [RCV000068043] Chr8:99776923 [GRCh38]
Chr8:100789151 [GRCh37]
Chr8:100858327 [NCBI36]
Chr8:8q22.2		 not provided
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=) single nucleotide variant Cohen syndrome [RCV000669726] Chr8:99832422 [GRCh38]
Chr8:100844650 [GRCh37]
Chr8:100913826 [NCBI36]
Chr8:8q22.2		 likely benign|not provided
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met) single nucleotide variant Cohen syndrome [RCV000672273] Chr8:99868296 [GRCh38]
Chr8:100880524 [GRCh37]
Chr8:100949700 [NCBI36]
Chr8:8q22.2		 uncertain significance|not provided
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) microsatellite Cohen syndrome [RCV000410642]|not provided [RCV000058886] Chr8:99853768..99853769 [GRCh38]
Chr8:100865996..100865997 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11170G>T (p.Glu3724Ter) single nucleotide variant not provided [RCV000058887] Chr8:99861901 [GRCh38]
Chr8:100874129 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11489_11490del (p.Tyr3830fs) microsatellite not provided [RCV000058888] Chr8:99870879..99870880 [GRCh38]
Chr8:100883107..100883108 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) single nucleotide variant Cohen syndrome [RCV000684837]|not provided [RCV000058890] Chr8:99135674 [GRCh38]
Chr8:100147902 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) single nucleotide variant Cohen syndrome [RCV001379171]|not provided [RCV000058891] Chr8:99135733 [GRCh38]
Chr8:100147961 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_017890.4(VPS13B):c.4877_4879dupAAT (p.Tyr1627_Gln1961delinsTer) duplication not provided [RCV000058895] Chr8:99556506..99556508 [GRCh38]
Chr8:100568734..100568736 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) single nucleotide variant Cohen syndrome [RCV000169432]|not provided [RCV000058896] Chr8:99556552 [GRCh38]
Chr8:100568780 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4880C>G (p.Ser1627Ter) single nucleotide variant not provided [RCV000058897] Chr8:99556584 [GRCh38]
Chr8:100568812 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) single nucleotide variant Cohen syndrome [RCV000984235]|not provided [RCV000058901] Chr8:99642435 [GRCh38]
Chr8:100654663 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7078G>T (p.Glu2360Ter) single nucleotide variant not provided [RCV000058903] Chr8:99766801 [GRCh38]
Chr8:100779029 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7247_7247+1delinsATGGAGC indel not provided [RCV000058904] Chr8:99766970..99766971 [GRCh38]
Chr8:100779198..100779199 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8217C>A (p.Cys2739Ter) single nucleotide variant not provided [RCV000058905] Chr8:99817659 [GRCh38]
Chr8:100829887 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) single nucleotide variant Cohen syndrome [RCV001705716]|not provided [RCV000058906] Chr8:99817685 [GRCh38]
Chr8:100829913 [GRCh37]
Chr8:8q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2515+37177T>C single nucleotide variant Cohen syndrome [RCV000673554] Chr8:99230234 [GRCh38]
Chr8:100242462 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_017890.4(VPS13B):c.2825-26834A>G single nucleotide variant Lung cancer [RCV000106739] Chr8:99357374 [GRCh38]
Chr8:100369602 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2935-4C>T single nucleotide variant Cohen syndrome [RCV000669835] Chr8:99391553 [GRCh38]
Chr8:100403781 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) deletion Cohen syndrome [RCV000661927] Chr8:99511487..99511488 [GRCh38]
Chr8:100523715..100523716 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) single nucleotide variant Cohen syndrome [RCV001160663]|not provided [RCV000118833] Chr8:99853588 [GRCh38]
Chr8:100865816 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10478A>G (p.Asp3493Gly) single nucleotide variant not provided [RCV000118834] Chr8:99853867 [GRCh38]
Chr8:100866095 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) single nucleotide variant Cohen syndrome [RCV001216642]|Inborn genetic diseases [RCV004019652]|not provided [RCV000118841] Chr8:99641875 [GRCh38]
Chr8:100654103 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) single nucleotide variant Cohen syndrome [RCV000389102]|Inborn genetic diseases [RCV002311676]|not provided [RCV001647062]|not specified [RCV000081867] Chr8:99853608 [GRCh38]
Chr8:100865836 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) single nucleotide variant Cohen syndrome [RCV001854436]|Inborn genetic diseases [RCV003162514]|not provided [RCV000081868] Chr8:99853857 [GRCh38]
Chr8:100866085 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) single nucleotide variant Cohen syndrome [RCV000310263]|Inborn genetic diseases [RCV002313805]|VPS13B-related disorder [RCV003398676]|not provided [RCV000081869] Chr8:99853957 [GRCh38]
Chr8:100866185 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) single nucleotide variant Cohen syndrome [RCV001081615]|Inborn genetic diseases [RCV002311677]|VPS13B-related disorder [RCV003974982]|not provided [RCV000081870] Chr8:99854133 [GRCh38]
Chr8:100866361 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) single nucleotide variant Cohen syndrome [RCV001083826]|Inborn genetic diseases [RCV002316262]|not provided [RCV000723688]|not specified [RCV000193264] Chr8:99859341 [GRCh38]
Chr8:100871569 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) single nucleotide variant Cohen syndrome [RCV000361059]|Inborn genetic diseases [RCV002313806]|VPS13B-related disorder [RCV003964938]|not provided [RCV000710109]|not specified [RCV000081872] Chr8:99861802 [GRCh38]
Chr8:100874030 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11078G>C (p.Ser3693Thr) single nucleotide variant not provided [RCV000081873] Chr8:99861809 [GRCh38]
Chr8:100874037 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) single nucleotide variant Cohen syndrome [RCV000388483]|Inborn genetic diseases [RCV002313807]|not provided [RCV001705771]|not specified [RCV000081874] Chr8:99871565 [GRCh38]
Chr8:100883793 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11745+5G>A single nucleotide variant Cohen syndrome [RCV000667800]|not provided [RCV000081875] Chr8:99871702 [GRCh38]
Chr8:100883930 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) single nucleotide variant Cohen syndrome [RCV001080363]|Inborn genetic diseases [RCV002336236]|VPS13B-related disorder [RCV003925075]|not provided [RCV000081877] Chr8:99875524 [GRCh38]
Chr8:100887752 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) single nucleotide variant Cohen syndrome [RCV001082583]|Inborn genetic diseases [RCV000623758]|VPS13B-related disorder [RCV003935062]|not provided [RCV000711290]|not specified [RCV000081878] Chr8:99134673 [GRCh38]
Chr8:100146901 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) single nucleotide variant Cohen syndrome [RCV000335692]|Inborn genetic diseases [RCV002514436]|VPS13B-related disorder [RCV003915092]|not provided [RCV000488217]|not specified [RCV000081879] Chr8:99135633 [GRCh38]
Chr8:100147861 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1567A>G (p.Thr523Ala) single nucleotide variant Cohen syndrome [RCV003497834]|not provided [RCV000081880] Chr8:99136668 [GRCh38]
Chr8:100148896 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) single nucleotide variant Cohen syndrome [RCV000350196]|Inborn genetic diseases [RCV000210673]|VPS13B-related disorder [RCV003421975]|not provided [RCV000487581]|not specified [RCV000081881] Chr8:99143022 [GRCh38]
Chr8:100155250 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) single nucleotide variant Cohen syndrome [RCV000403642]|Inborn genetic diseases [RCV002313808]|VPS13B-related disorder [RCV003982881]|not provided [RCV000723771]|not specified [RCV000194373] Chr8:99143154 [GRCh38]
Chr8:100155382 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) single nucleotide variant Cohen syndrome [RCV000351248]|Inborn genetic diseases [RCV002513839]|VPS13B-related disorder [RCV003407464]|not provided [RCV000081883]|not specified [RCV001818248] Chr8:99147861 [GRCh38]
Chr8:100160089 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) single nucleotide variant Cohen syndrome [RCV000671667]|Inborn genetic diseases [RCV002415579]|VPS13B-related disorder [RCV003915093]|not provided [RCV000081884] Chr8:99156659 [GRCh38]
Chr8:100168887 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) single nucleotide variant Cohen syndrome [RCV000306903]|Inborn genetic diseases [RCV002311678]|not provided [RCV000224853]|not specified [RCV000081885] Chr8:99170105 [GRCh38]
Chr8:100182333 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) single nucleotide variant Cohen syndrome [RCV001083808]|Inborn genetic diseases [RCV002311679]|not provided [RCV000417740]|not specified [RCV000081886] Chr8:99193027 [GRCh38]
Chr8:100205255 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) single nucleotide variant Abnormality of the eye [RCV000505106]|Cohen syndrome [RCV002513840]|not provided [RCV000175340] Chr8:99274273 [GRCh38]
Chr8:100286501 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_152564.5(VPS13B):c.2651-10T>G single nucleotide variant Cohen syndrome [RCV000665438]|VPS13B-related disorder [RCV004742249]|not provided [RCV000081888] Chr8:99275071 [GRCh38]
Chr8:100287299 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) single nucleotide variant Cohen syndrome [RCV000807227]|Inborn genetic diseases [RCV002514437]|VPS13B-related disorder [RCV004742250]|not provided [RCV000081889] Chr8:99384230 [GRCh38]
Chr8:100396458 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg) single nucleotide variant Cohen syndrome [RCV002514438]|not provided [RCV000081890] Chr8:99384289 [GRCh38]
Chr8:100396517 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) single nucleotide variant Cohen syndrome [RCV000294674]|Inborn genetic diseases [RCV002311680]|not provided [RCV000224210]|not specified [RCV000081891] Chr8:99431657 [GRCh38]
Chr8:100443885 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) single nucleotide variant Cohen syndrome [RCV001079908]|Inborn genetic diseases [RCV002313809]|VPS13B-related disorder [RCV003982882]|not provided [RCV000512666]|not specified [RCV000081892] Chr8:99442576 [GRCh38]
Chr8:100454804 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) single nucleotide variant Cohen syndrome [RCV000810563]|VPS13B-related disorder [RCV003894940]|not provided [RCV000081893] Chr8:99467566 [GRCh38]
Chr8:100479794 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) single nucleotide variant Abnormality of the eye [RCV000504808]|Cohen syndrome [RCV003388827]|not provided [RCV000081894] Chr8:99467596 [GRCh38]
Chr8:100479824 [GRCh37]
Chr8:8q22.2		 likely pathogenic|uncertain significance
NM_152564.5(VPS13B):c.3667-7C>T single nucleotide variant Cohen syndrome [RCV000302317]|not provided [RCV000711296]|not specified [RCV000081895] Chr8:99481592 [GRCh38]
Chr8:100493820 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) single nucleotide variant Cohen syndrome [RCV000298732]|Inborn genetic diseases [RCV002345398]|not provided [RCV000711297]|not specified [RCV000251331] Chr8:99481683 [GRCh38]
Chr8:100493911 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) single nucleotide variant Cohen syndrome [RCV000670690]|not provided [RCV000081897] Chr8:99481683 [GRCh38]
Chr8:100493911 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) single nucleotide variant Cohen syndrome [RCV000530711]|Inborn genetic diseases [RCV002311681]|not provided [RCV000081898] Chr8:99481798 [GRCh38]
Chr8:100494026 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) single nucleotide variant Cohen syndrome [RCV000367285]|Inborn genetic diseases [RCV002311682]|not provided [RCV004704843]|not specified [RCV000081899] Chr8:99507809 [GRCh38]
Chr8:100520037 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017890.5(VPS13B):c.4200C>T (p.Val1400=) single nucleotide variant Cohen syndrome [RCV005055570]|not provided [RCV000081900] Chr8:99507812 [GRCh38]
Chr8:100520040 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) single nucleotide variant Cohen syndrome [RCV000382355]|Inborn genetic diseases [RCV004019572]|VPS13B-related disorder [RCV003390778]|not provided [RCV000723627]|not specified [RCV000081901] Chr8:99511141 [GRCh38]
Chr8:100523369 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) single nucleotide variant Cohen syndrome [RCV000688683]|VPS13B-related disorder [RCV003945023]|not provided [RCV000081902] Chr8:99575663 [GRCh38]
Chr8:100587891 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.524C>G (p.Ser175Cys) single nucleotide variant not provided [RCV000081903] Chr8:99103064 [GRCh38]
Chr8:100115292 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) single nucleotide variant Cohen syndrome [RCV000335614]|Inborn genetic diseases [RCV002311683]|not provided [RCV000224363]|not specified [RCV000081904] Chr8:99642091 [GRCh38]
Chr8:100654319 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) single nucleotide variant Cohen syndrome [RCV000634137]|Inborn genetic diseases [RCV002316263]|Neutropenia, severe congenital, 1, autosomal dominant [RCV002272060]|VPS13B-related disorder [RCV003964939]|not provided [RCV001310637]|not specified [RCV000081905] Chr8:99642495 [GRCh38]
Chr8:100654723 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6021G>T (p.Gln2007His) single nucleotide variant not provided [RCV000081906] Chr8:99661466 [GRCh38]
Chr8:100673694 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6266G>T (p.Gly2089Val) single nucleotide variant not provided [RCV000081907] Chr8:99699744 [GRCh38]
Chr8:100711972 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6455-4dup duplication Cohen syndrome [RCV000371009]|Inborn genetic diseases [RCV002311684]|not provided [RCV001650927]|not specified [RCV000081908] Chr8:99717158..99717159 [GRCh38]
Chr8:100729386..100729387 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) single nucleotide variant Cohen syndrome [RCV001244755]|Inborn genetic diseases [RCV004678607]|VPS13B-related disorder [RCV003415849]|not provided [RCV000723721]|not specified [RCV000081909] Chr8:99717347 [GRCh38]
Chr8:100729575 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) single nucleotide variant Cohen syndrome [RCV000326662]|Inborn genetic diseases [RCV002311685]|not provided [RCV001668205]|not specified [RCV000081910] Chr8:99720960 [GRCh38]
Chr8:100733188 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) single nucleotide variant Cohen syndrome [RCV000551636]|Inborn genetic diseases [RCV002311686]|not provided [RCV000711301]|not specified [RCV000081911] Chr8:99766875 [GRCh38]
Chr8:100779103 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) single nucleotide variant Cohen syndrome [RCV000169023]|Inborn genetic diseases [RCV002381403]|VPS13B-related disorder [RCV003398677]|not provided [RCV000081912]|not specified [RCV002222383] Chr8:99776893 [GRCh38]
Chr8:100789121 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) single nucleotide variant Cohen syndrome [RCV000378284]|Inborn genetic diseases [RCV002311687]|not provided [RCV001647063]|not specified [RCV000081913] Chr8:99778928 [GRCh38]
Chr8:100791156 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) single nucleotide variant Cohen syndrome [RCV000547888]|Inborn genetic diseases [RCV002313810]|Retinitis pigmentosa [RCV001199598]|not provided [RCV000513903]|not specified [RCV000081914] Chr8:99778930 [GRCh38]
Chr8:100791158 [GRCh37]
Chr8:8q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) single nucleotide variant Cohen syndrome [RCV000634120]|Inborn genetic diseases [RCV002313811]|VPS13B-related disorder [RCV003974983]|not provided [RCV000723691]|not specified [RCV000081915] Chr8:99778960 [GRCh38]
Chr8:100791188 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.7780-19C>T single nucleotide variant Cohen syndrome [RCV000667453]|VPS13B-related disorder [RCV003935063]|not provided [RCV000081916] Chr8:99784296 [GRCh38]
Chr8:100796524 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) single nucleotide variant Cohen syndrome [RCV000379499]|not provided [RCV000081917] Chr8:99784457 [GRCh38]
Chr8:100796685 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) single nucleotide variant Cohen syndrome [RCV000671744]|Inborn genetic diseases [RCV002415580]|not provided [RCV000081918] Chr8:99809383 [GRCh38]
Chr8:100821611 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) single nucleotide variant Cohen syndrome [RCV000293375]|Inborn genetic diseases [RCV002313812]|not provided [RCV001705772]|not specified [RCV000259055] Chr8:99818837 [GRCh38]
Chr8:100831065 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) single nucleotide variant Cohen syndrome [RCV001081310]|Inborn genetic diseases [RCV002316264]|VPS13B-related disorder [RCV003915094]|not provided [RCV000723588]|not specified [RCV000193739] Chr8:99821393 [GRCh38]
Chr8:100833621 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) single nucleotide variant Cohen syndrome [RCV000401885]|Inborn genetic diseases [RCV002311688]|not provided [RCV001711195]|not specified [RCV000081922] Chr8:99832387 [GRCh38]
Chr8:100844615 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) single nucleotide variant Cohen syndrome [RCV000366445]|Inborn genetic diseases [RCV002311689]|not provided [RCV001711196]|not specified [RCV000081923] Chr8:99832530 [GRCh38]
Chr8:100844758 [GRCh37]
Chr8:8q22.2		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) single nucleotide variant Cohen syndrome [RCV000531326]|Inborn genetic diseases [RCV002313813]|VPS13B-related disorder [RCV003905065]|not provided [RCV000710111]|not specified [RCV000081924] Chr8:99832630 [GRCh38]
Chr8:100844858 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) single nucleotide variant Cohen syndrome [RCV000373171]|Inborn genetic diseases [RCV002312532]|VPS13B-related disorder [RCV003975059]|not provided [RCV001539573]|not specified [RCV000118830] Chr8:99848776 [GRCh38]
Chr8:100861004 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) single nucleotide variant Cohen syndrome [RCV000385723]|Inborn genetic diseases [RCV002312533]|not provided [RCV000428325]|not specified [RCV000118831] Chr8:99848882 [GRCh38]
Chr8:100861110 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) single nucleotide variant Cohen syndrome [RCV000350899]|Inborn genetic diseases [RCV002312534]|not provided [RCV001705872]|not specified [RCV000118832] Chr8:99853544 [GRCh38]
Chr8:100865772 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) single nucleotide variant Cohen syndrome [RCV000331592]|Inborn genetic diseases [RCV002312535]|not provided [RCV000859352]|not specified [RCV000118835] Chr8:99871517 [GRCh38]
Chr8:100883745 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) single nucleotide variant Cohen syndrome [RCV000285313]|Inborn genetic diseases [RCV002312536]|not provided [RCV001705873]|not specified [RCV000118836] Chr8:99134718 [GRCh38]
Chr8:100146946 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) single nucleotide variant Cohen syndrome [RCV000396252]|Inborn genetic diseases [RCV002312537]|not provided [RCV001549574]|not specified [RCV000118838] Chr8:99481676 [GRCh38]
Chr8:100493904 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) single nucleotide variant Cohen syndrome [RCV000262010]|Inborn genetic diseases [RCV002312538]|not provided [RCV000858917]|not specified [RCV000118839] Chr8:99481769 [GRCh38]
Chr8:100493997 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) single nucleotide variant Cohen syndrome [RCV000277174]|Inborn genetic diseases [RCV002312539]|not provided [RCV000224306]|not specified [RCV000118840] Chr8:99507859 [GRCh38]
Chr8:100520087 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) single nucleotide variant Cohen syndrome [RCV001246745]|Inborn genetic diseases [RCV002354303]|VPS13B-related disorder [RCV003915179]|not provided [RCV000118842]|not specified [RCV003155079] Chr8:99642393 [GRCh38]
Chr8:100654621 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9330+10T>A single nucleotide variant Cohen syndrome [RCV000546204]|not provided [RCV001636676]|not specified [RCV000118844] Chr8:99823988 [GRCh38]
Chr8:100836216 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.9330+9A>G single nucleotide variant Cohen syndrome [RCV000624961]|VPS13B-related disorder [RCV004742263]|not specified [RCV000395399] Chr8:99823987 [GRCh38]
Chr8:100836215 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5908+2dup duplication Cohen syndrome [RCV000119263]|not provided [RCV003237718] Chr8:99642499..99642500 [GRCh38]
Chr8:100654727..100654728 [GRCh37]
Chr8:8q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11044+2T>C single nucleotide variant Cohen syndrome [RCV000119264] Chr8:99859482 [GRCh38]
Chr8:100871710 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs) duplication Global developmental delay [RCV001003974]|Myopia [RCV001003973] Chr8:99871647..99871648 [GRCh38]
Chr8:100883875..100883876 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9158T>C (p.Leu3053Pro) single nucleotide variant Cohen syndrome [RCV001312290] Chr8:99821457 [GRCh38]
Chr8:100833685 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11545G>A (p.Val3849Met) single nucleotide variant Cohen syndrome [RCV001303557] Chr8:99871497 [GRCh38]
Chr8:100883725 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9824G>T (p.Ser3275Ile) single nucleotide variant Cohen syndrome [RCV002001779] Chr8:99835620 [GRCh38]
Chr8:100847848 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) single nucleotide variant Cohen syndrome [RCV000527647]|Inborn genetic diseases [RCV002314645]|not provided [RCV001668342]|not specified [RCV000178472] Chr8:99776865 [GRCh38]
Chr8:100789093 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) single nucleotide variant Cohen syndrome [RCV000280373]|Inborn genetic diseases [RCV002312726]|VPS13B-related disorder [RCV003937614]|not provided [RCV001706143]|not specified [RCV000178583] Chr8:99817613 [GRCh38]
Chr8:100829841 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) single nucleotide variant Cohen syndrome [RCV000355552]|Inborn genetic diseases [RCV002314659]|VPS13B-related disorder [RCV003977475]|not provided [RCV000859448]|not specified [RCV000179212] Chr8:99861926 [GRCh38]
Chr8:100874154 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11378C>G (p.Ser3793Ter) single nucleotide variant not provided [RCV000179226] Chr8:99868451 [GRCh38]
Chr8:100880679 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10703T>C (p.Val3568Ala) single nucleotide variant Cohen syndrome [RCV001302715] Chr8:99854092 [GRCh38]
Chr8:100866320 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8362-188C>T single nucleotide variant not provided [RCV001545877] Chr8:99818263 [GRCh38]
Chr8:100830491 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.630T>C (p.Val210=) single nucleotide variant Cohen syndrome [RCV001493744] Chr8:99111147 [GRCh38]
Chr8:100123375 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6588C>T (p.His2196=) single nucleotide variant Cohen syndrome [RCV001493811] Chr8:99717304 [GRCh38]
Chr8:100729532 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11877A>C (p.Glu3959Asp) single nucleotide variant Cohen syndrome [RCV001294411]|VPS13B-related disorder [RCV004743384] Chr8:99875549 [GRCh38]
Chr8:100887777 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) single nucleotide variant Cohen syndrome [RCV000375746]|Inborn genetic diseases [RCV002399624]|VPS13B-related disorder [RCV003982923]|not provided [RCV000426832]|not specified [RCV000239145] Chr8:99135729 [GRCh38]
Chr8:100147957 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) single nucleotide variant Cohen syndrome [RCV001084527]|Inborn genetic diseases [RCV002317000]|VPS13B-related disorder [RCV003937555]|not provided [RCV000174137]|not specified [RCV001818416] Chr8:99135610 [GRCh38]
Chr8:100147838 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) single nucleotide variant Cohen syndrome [RCV001084953]|Inborn genetic diseases [RCV002390421]|VPS13B-related disorder [RCV003975265]|not provided [RCV000174138] Chr8:99135698 [GRCh38]
Chr8:100147926 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) single nucleotide variant Cohen syndrome [RCV000515161]|Inborn genetic diseases [RCV002317005]|Intellectual disability [RCV001252626]|VPS13B-related disorder [RCV003416071]|not provided [RCV000711291]|not specified [RCV000193331] Chr8:99143090 [GRCh38]
Chr8:100155318 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) single nucleotide variant Cohen syndrome [RCV001084912]|Inborn genetic diseases [RCV002399628]|VPS13B-related disorder [RCV003895183]|not provided [RCV000174583] Chr8:99143092 [GRCh38]
Chr8:100155320 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) single nucleotide variant Cohen syndrome [RCV000813505]|Inborn genetic diseases [RCV002415746]|VPS13B-related disorder [RCV004742310]|not provided [RCV000174936] Chr8:99156591 [GRCh38]
Chr8:100168819 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) single nucleotide variant Cohen syndrome [RCV001047823]|Inborn genetic diseases [RCV002415747]|VPS13B-related disorder [RCV004742311]|not provided [RCV000513467]|not specified [RCV000193499] Chr8:99156610 [GRCh38]
Chr8:100168838 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) single nucleotide variant Cohen syndrome [RCV001082387]|Inborn genetic diseases [RCV002516667]|VPS13B-related disorder [RCV003416074]|not provided [RCV000175216] Chr8:99193012 [GRCh38]
Chr8:100205240 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) single nucleotide variant Cohen syndrome [RCV000820910]|Inborn genetic diseases [RCV002313040]|VPS13B-related disorder [RCV003416075]|not provided [RCV000724769]|not specified [RCV000175217] Chr8:99193015 [GRCh38]
Chr8:100205243 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 copy number loss See cases [RCV000137322] Chr8:99580206..101547228 [GRCh38]
Chr8:100592434..102559456 [GRCh37]
Chr8:100661610..102628632 [NCBI36]
Chr8:8q22.2-22.3		 likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.2(chr8:99394612-99622937)x1 copy number loss See cases [RCV000141776] Chr8:99394612..99622937 [GRCh38]
Chr8:100406840..100635165 [GRCh37]
Chr8:100476016..100704341 [NCBI36]
Chr8:8q22.2		 likely benign|uncertain significance
GRCh38/hg38 8q22.2(chr8:99055243-99917250)x1 copy number loss See cases [RCV000142353] Chr8:99055243..99917250 [GRCh38]
Chr8:100067471..100929478 [GRCh37]
Chr8:100136647..100998654 [NCBI36]
Chr8:8q22.2		 uncertain significance
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) single nucleotide variant Cohen syndrome [RCV000871803]|Inborn genetic diseases [RCV002316976]|not provided [RCV003430714]|not specified [RCV000154132] Chr8:99848885 [GRCh38]
Chr8:100861113 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_152564.5(VPS13B):c.3083-8G>A single nucleotide variant Cohen syndrome [RCV000768363]|not provided [RCV003432763] Chr8:99431529 [GRCh38]
Chr8:100443757 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys) single nucleotide variant Cohen syndrome [RCV002514967]|not provided [RCV000154125] Chr8:99121315 [GRCh38]
Chr8:100133543 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1464G>A (p.Thr488=) single nucleotide variant Cohen syndrome [RCV001405194]|not provided [RCV000154126] Chr8:99135634 [GRCh38]
Chr8:100147862 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) single nucleotide variant Cohen syndrome [RCV000555581]|VPS13B-related disorder [RCV004742282]|not provided [RCV000711298] Chr8:99556461 [GRCh38]
Chr8:100568689 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.6887T>C (p.Val2296Ala) single nucleotide variant not provided [RCV000154128] Chr8:99720884 [GRCh38]
Chr8:100733112 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) single nucleotide variant Cohen syndrome [RCV000178693]|not provided [RCV000790673] Chr8:99819998 [GRCh38]
Chr8:100832226 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) single nucleotide variant Cohen syndrome [RCV000264740]|Inborn genetic diseases [RCV002381488]|not provided [RCV000154130]|not specified [RCV003150955] Chr8:99832568 [GRCh38]
Chr8:100844796 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) single nucleotide variant Cohen syndrome [RCV001082857]|Inborn genetic diseases [RCV002381489]|VPS13B-related disorder [RCV003975207]|not provided [RCV000154131] Chr8:99835699 [GRCh38]
Chr8:100847927 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) single nucleotide variant Cohen syndrome [RCV000765983]|Inborn genetic diseases [RCV002316977]|VPS13B-related disorder [RCV003416005]|not provided [RCV000723856]|not specified [RCV000154133] Chr8:99854001 [GRCh38]
Chr8:100866229 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) single nucleotide variant Cohen syndrome [RCV000701453]|Inborn genetic diseases [RCV003343661]|VPS13B-related disorder [RCV003390846]|not provided [RCV000154134] Chr8:99871608 [GRCh38]
Chr8:100883836 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His) single nucleotide variant Cohen syndrome [RCV001324253]|not provided [RCV000154135] Chr8:99875557 [GRCh38]
Chr8:100887785 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val) single nucleotide variant Cohen syndrome [RCV001324818]|not provided [RCV000176105] Chr8:99384235 [GRCh38]
Chr8:100396463 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) single nucleotide variant Cohen syndrome [RCV000367068]|Inborn genetic diseases [RCV001267431]|VPS13B-related disorder [RCV003407648]|not provided [RCV000175898] Chr8:99013844 [GRCh38]
Chr8:100026072 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3148G>A (p.Glu1050Lys) single nucleotide variant not provided [RCV000176321] Chr8:99431602 [GRCh38]
Chr8:100443830 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) indel Cohen syndrome [RCV000169093]|not provided [RCV000521388] Chr8:99875503..99875513 [GRCh38]
Chr8:100887731..100887741 [GRCh37]
Chr8:8q22.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) duplication Cohen syndrome [RCV000169235]|VPS13B-related disorder [RCV004742302]|not provided [RCV001567222] Chr8:99641848..99641849 [GRCh38]
Chr8:100654076..100654077 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) indel Cohen syndrome [RCV000169612]|Inborn genetic diseases [RCV002515202]|VPS13B-related disorder [RCV004742304] Chr8:99871657..99871661 [GRCh38]
Chr8:100883885..100883889 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.9331-1G>C single nucleotide variant Cohen syndrome [RCV000169632] Chr8:99832368 [GRCh38]
Chr8:100844596 [GRCh37]
Chr8:8q22.2		 pathogenic|not provided
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) single nucleotide variant Cohen syndrome [RCV001084571]|VPS13B-related disorder [RCV003927662]|not provided [RCV000178446] Chr8:99766810 [GRCh38]
Chr8:100779038 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) single nucleotide variant Cohen syndrome [RCV000283654]|Inborn genetic diseases [RCV002317049]|not provided [RCV000724114]|not specified [RCV000194337] Chr8:99778964 [GRCh38]
Chr8:100791192 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.8173A>G (p.Ile2725Val) single nucleotide variant Cohen syndrome [RCV001852215]|not provided [RCV000178582] Chr8:99817615 [GRCh38]
Chr8:100829843 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8185G>A (p.Gly2729Arg) single nucleotide variant not provided [RCV000178584] Chr8:99817627 [GRCh38]
Chr8:100829855 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) single nucleotide variant Cohen syndrome [RCV000529168]|VPS13B-related disorder [RCV003416098]|not provided [RCV000179076]|not specified [RCV001201187] Chr8:99821430 [GRCh38]
Chr8:100833658 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) single nucleotide variant Cohen syndrome [RCV001242081]|Inborn genetic diseases [RCV002381578]|not provided [RCV000179110]|not specified [RCV001818441] Chr8:99832589 [GRCh38]
Chr8:100844817 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) single nucleotide variant Cohen syndrome [RCV001079377]|Inborn genetic diseases [RCV002372100]|not provided [RCV000512808]|not specified [RCV000194848] Chr8:99835227 [GRCh38]
Chr8:100847455 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg) single nucleotide variant Cohen syndrome [RCV001852227]|not provided [RCV000179130] Chr8:99835228 [GRCh38]
Chr8:100847456 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe) single nucleotide variant Cohen syndrome [RCV001852230]|not provided [RCV000179182] Chr8:99853907 [GRCh38]
Chr8:100866135 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) single nucleotide variant Cohen syndrome [RCV001045015]|Inborn genetic diseases [RCV002390439]|VPS13B-related disorder [RCV003977473]|not provided [RCV000179183] Chr8:99853702 [GRCh38]
Chr8:100865930 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) single nucleotide variant Cohen syndrome [RCV001086099]|Inborn genetic diseases [RCV002314657]|not provided [RCV000724885]|not specified [RCV000179184] Chr8:99853629 [GRCh38]
Chr8:100865857 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) single nucleotide variant Cohen syndrome [RCV002515280]|Inborn genetic diseases [RCV002516796]|not provided [RCV000179581] Chr8:99870830 [GRCh38]
Chr8:100883058 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) single nucleotide variant Cohen syndrome [RCV000805215]|VPS13B-related disorder [RCV004742316]|not provided [RCV000179590] Chr8:99871662 [GRCh38]
Chr8:100883890 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) single nucleotide variant Cohen syndrome [RCV000634098]|Inborn genetic diseases [RCV002314673]|VPS13B-related disorder [RCV003982931]|not provided [RCV000710112]|not specified [RCV001818444] Chr8:99121222 [GRCh38]
Chr8:100133450 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) single nucleotide variant Cohen syndrome [RCV000265186]|Inborn genetic diseases [RCV002317062]|not provided [RCV000180345] Chr8:99121280 [GRCh38]
Chr8:100133508 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) single nucleotide variant Cohen syndrome [RCV001852182]|VPS13B-related disorder [RCV003917645]|not provided [RCV000176942] Chr8:99511449 [GRCh38]
Chr8:100523677 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) single nucleotide variant Cohen syndrome [RCV001054779]|VPS13B-related disorder [RCV003407653]|not provided [RCV000176943] Chr8:99511501 [GRCh38]
Chr8:100523729 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) single nucleotide variant Cohen syndrome [RCV001467520]|VPS13B-related disorder [RCV003947540]|not provided [RCV000180658] Chr8:99134721 [GRCh38]
Chr8:100146949 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) single nucleotide variant Cohen syndrome [RCV001852176]|VPS13B-related disorder [RCV004742312]|not provided [RCV000176418] Chr8:99442596 [GRCh38]
Chr8:100454824 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) single nucleotide variant Cohen syndrome [RCV001085636]|Inborn genetic diseases [RCV002314619]|VPS13B-related disorder [RCV003977436]|not provided [RCV000487877]|not specified [RCV000194618] Chr8:99467484 [GRCh38]
Chr8:100479712 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) single nucleotide variant Cohen syndrome [RCV000515402]|Inborn genetic diseases [RCV002317024]|not provided [RCV000724113]|not specified [RCV000193659] Chr8:99481743 [GRCh38]
Chr8:100493971 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) single nucleotide variant Cohen syndrome [RCV002056952]|VPS13B-related disorder [RCV004742313]|not provided [RCV000176581] Chr8:99481622 [GRCh38]
Chr8:100493850 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4950-9A>G single nucleotide variant Cohen syndrome [RCV001087644]|VPS13B-related disorder [RCV003917652]|not provided [RCV000724170]|not specified [RCV000177657] Chr8:99575649 [GRCh38]
Chr8:100587877 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) single nucleotide variant Cohen syndrome [RCV000356019]|Inborn genetic diseases [RCV002317039]|VPS13B-related disorder [RCV003947507]|not provided [RCV000177803] Chr8:99642331 [GRCh38]
Chr8:100654559 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) single nucleotide variant Cohen syndrome [RCV000515167]|Inborn genetic diseases [RCV002314635]|VPS13B-related disorder [RCV003977455]|not provided [RCV000711299]|not specified [RCV000194012] Chr8:99642196 [GRCh38]
Chr8:100654424 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) single nucleotide variant Cohen syndrome [RCV000285237]|Inborn genetic diseases [RCV004965298]|VPS13B-related disorder [RCV003895197]|not provided [RCV000177805]|not specified [RCV001818431] Chr8:99641986 [GRCh38]
Chr8:100654214 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) single nucleotide variant Cohen syndrome [RCV001215108]|not provided [RCV000177806] Chr8:99642351 [GRCh38]
Chr8:100654579 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) single nucleotide variant Cohen syndrome [RCV001084954]|Inborn genetic diseases [RCV002317040]|VPS13B-related disorder [RCV003416092]|not provided [RCV000177807] Chr8:99642480 [GRCh38]
Chr8:100654708 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) single nucleotide variant Cohen syndrome [RCV000515269]|Inborn genetic diseases [RCV002314637]|VPS13B-related disorder [RCV003982929]|not provided [RCV000711300]|not specified [RCV000194104] Chr8:99699894 [GRCh38]
Chr8:100712122 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val) single nucleotide variant Cohen syndrome [RCV001832018]|not provided [RCV000177921] Chr8:99717203 [GRCh38]
Chr8:100729431 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) single nucleotide variant Cohen syndrome [RCV000679864]|VPS13B-related disorder [RCV003409391]|not provided [RCV000398282] Chr8:99720414 [GRCh38]
Chr8:100732642 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) single nucleotide variant Cohen syndrome [RCV000313736]|Inborn genetic diseases [RCV002453713]|VPS13B-related disorder [RCV003907710]|not specified [RCV000192996] Chr8:99096378 [GRCh38]
Chr8:100108606 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3366G>C (p.Lys1122Asn) single nucleotide variant Inborn genetic diseases [RCV004020350]|not specified [RCV000192559] Chr8:99442556 [GRCh38]
Chr8:100454784 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu) single nucleotide variant Cohen syndrome [RCV001055358]|not provided [RCV000766563]|not specified [RCV000192802] Chr8:99853938 [GRCh38]
Chr8:100866166 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) single nucleotide variant Cohen syndrome [RCV001083948]|Inborn genetic diseases [RCV002311308]|not provided [RCV000556512]|not specified [RCV000192990] Chr8:99642107 [GRCh38]
Chr8:100654335 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) single nucleotide variant Cohen syndrome [RCV000815411]|Inborn genetic diseases [RCV002372166]|VPS13B-related disorder [RCV004742326]|not specified [RCV000193148] Chr8:99766874 [GRCh38]
Chr8:100779102 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln) single nucleotide variant Cohen syndrome [RCV002485296]|Inborn genetic diseases [RCV004965321]|VPS13B-related disorder [RCV003422101]|not specified [RCV000193425] Chr8:99832631 [GRCh38]
Chr8:100844859 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) single nucleotide variant Cohen syndrome [RCV001060335]|Inborn genetic diseases [RCV003372646]|VPS13B-related disorder [RCV004742325]|not specified [RCV000193835] Chr8:99854052 [GRCh38]
Chr8:100866280 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) single nucleotide variant Cohen syndrome [RCV000348314]|Inborn genetic diseases [RCV002317717]|not provided [RCV001706170]|not specified [RCV000194526] Chr8:99391697 [GRCh38]
Chr8:100403925 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys) single nucleotide variant Cohen syndrome [RCV002517151]|not specified [RCV000194592] Chr8:99641967 [GRCh38]
Chr8:100654195 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) single nucleotide variant Cohen syndrome [RCV000765982]|Inborn genetic diseases [RCV002315519]|VPS13B-related disorder [RCV003917778]|not provided [RCV001706171]|not specified [RCV000195038] Chr8:99642197 [GRCh38]
Chr8:100654425 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=) single nucleotide variant Cohen syndrome [RCV001272466]|Inborn genetic diseases [RCV002315518]|not specified [RCV000195215] Chr8:99854234 [GRCh38]
Chr8:100866462 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_152564.5(VPS13B):c.10522G>A (p.Val3508Met) single nucleotide variant not provided [RCV001753597]|not specified [RCV000195248] Chr8:99853911 [GRCh38]
Chr8:100866139 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.723A>C (p.Thr241=) single nucleotide variant Cohen syndrome [RCV002517152]|not specified [RCV000195265] Chr8:99111240 [GRCh38]
Chr8:100123468 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) single nucleotide variant Cohen syndrome [RCV000192341] Chr8:99820043 [GRCh38]
Chr8:100832271 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val) single nucleotide variant Cohen syndrome [RCV002517988]|not specified [RCV000192367] Chr8:99818764 [GRCh38]
Chr8:100830992 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=) single nucleotide variant Cohen syndrome [RCV001396755]|not specified [RCV000193748] Chr8:99819529 [GRCh38]
Chr8:100831757 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu) single nucleotide variant Cohen syndrome [RCV000688026]|not specified [RCV000194287] Chr8:99868348 [GRCh38]
Chr8:100880576 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1569A>G (p.Thr523=) single nucleotide variant Cohen syndrome [RCV001441017]|not specified [RCV000194937] Chr8:99136670 [GRCh38]
Chr8:100148898 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.6931A>G (p.Met2311Val) single nucleotide variant not specified [RCV000195100] Chr8:99720928 [GRCh38]
Chr8:100733156 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) single nucleotide variant Cohen syndrome [RCV000298386]|Inborn genetic diseases [RCV002314005]|not specified [RCV000274876] Chr8:99861912 [GRCh38]
Chr8:100874140 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) single nucleotide variant Cohen syndrome [RCV000277731]|VPS13B-related disorder [RCV003430825]|not provided [RCV000329642]|not specified [RCV001820837] Chr8:99875431 [GRCh38]
Chr8:100887659 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) single nucleotide variant Cohen syndrome [RCV001387318]|Inborn genetic diseases [RCV001267026]|not provided [RCV000278399] Chr8:99699603 [GRCh38]
Chr8:100711831 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) single nucleotide variant Cohen syndrome [RCV000382470]|Inborn genetic diseases [RCV002338836]|not provided [RCV001706413]|not specified [RCV000301920] Chr8:99875556 [GRCh38]
Chr8:100887784 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q22.2(chr8:100287536-100287625)x3 copy number gain See cases [RCV000449062] Chr8:100287536..100287625 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9330+1G>C single nucleotide variant Cohen syndrome [RCV000668388]|not provided [RCV000518969] Chr8:99823979 [GRCh38]
Chr8:100836207 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3 copy number gain Breast ductal adenocarcinoma [RCV000207177] Chr8:100871620..101253185 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs) deletion Cohen syndrome [RCV000211543] Chr8:99853554..99853596 [GRCh38]
Chr8:100865782..100865824 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) single nucleotide variant Cohen syndrome [RCV001388802]|Inborn genetic diseases [RCV000210577]|not provided [RCV002285280] Chr8:99192952 [GRCh38]
Chr8:100205180 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) single nucleotide variant Cohen syndrome [RCV000668646]|Inborn genetic diseases [RCV000210619] Chr8:99832510 [GRCh38]
Chr8:100844738 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) single nucleotide variant Cohen syndrome [RCV000662339]|Inborn genetic diseases [RCV000210717] Chr8:99442587 [GRCh38]
Chr8:100454815 [GRCh37]
Chr8:8q22.2		 likely pathogenic|uncertain significance|not provided
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) single nucleotide variant Cohen syndrome [RCV000677711] Chr8:99481613 [GRCh38]
Chr8:100493841 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) single nucleotide variant Cohen syndrome [RCV001272468]|Inborn genetic diseases [RCV002438239]|not provided [RCV000513834] Chr8:99861911 [GRCh38]
Chr8:100874139 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) deletion Cohen syndrome [RCV000669506] Chr8:99817624 [GRCh38]
Chr8:100829852 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) single nucleotide variant Cohen syndrome [RCV000303841]|Inborn genetic diseases [RCV002317747]|VPS13B-related disorder [RCV003390976]|not provided [RCV000224087]|not specified [RCV000503780] Chr8:99274278 [GRCh38]
Chr8:100286506 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg) single nucleotide variant Cohen syndrome [RCV001351253]|not provided [RCV000224101] Chr8:99720544 [GRCh38]
Chr8:100732772 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5087T>C (p.Val1696Ala) single nucleotide variant not provided [RCV000224181] Chr8:99577500 [GRCh38]
Chr8:100589728 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) single nucleotide variant Cohen syndrome [RCV001079398]|Inborn genetic diseases [RCV002317745]|VPS13B-related disorder [RCV003977629]|not provided [RCV000224241]|not specified [RCV000503376] Chr8:99861889 [GRCh38]
Chr8:100874117 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) single nucleotide variant Cohen syndrome [RCV001082659]|Inborn genetic diseases [RCV002311332]|not provided [RCV000224724] Chr8:99720974 [GRCh38]
Chr8:100733202 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) single nucleotide variant Cohen syndrome [RCV000346728]|Inborn genetic diseases [RCV002311407]|not provided [RCV000320613] Chr8:99442553 [GRCh38]
Chr8:100454781 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) single nucleotide variant Cohen syndrome [RCV000358657]|Inborn genetic diseases [RCV002314026]|VPS13B-related disorder [RCV003977797]|not provided [RCV004808666]|not specified [RCV000276527] Chr8:99274325 [GRCh38]
Chr8:100286553 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.292-7A>G single nucleotide variant Cohen syndrome [RCV000677709] Chr8:99096305 [GRCh38]
Chr8:100108533 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4225-6G>A single nucleotide variant Cohen syndrome [RCV000332517]|Inborn genetic diseases [RCV002519246]|not provided [RCV000353863] Chr8:99511098 [GRCh38]
Chr8:100523326 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1206+23T>A single nucleotide variant Cohen syndrome [RCV000669612] Chr8:99121468 [GRCh38]
Chr8:100133696 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) deletion Cohen syndrome [RCV000669642] Chr8:99115730..99115733 [GRCh38]
Chr8:100127958..100127961 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8995-2A>G single nucleotide variant Cohen syndrome [RCV000669807] Chr8:99821292 [GRCh38]
Chr8:100833520 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8445+50del deletion Cohen syndrome [RCV000669253] Chr8:99818584 [GRCh38]
Chr8:100830812 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3445+1G>T single nucleotide variant Cohen syndrome [RCV000669548] Chr8:99442636 [GRCh38]
Chr8:100454864 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup) duplication Cohen syndrome [RCV000670009] Chr8:99870882..99870883 [GRCh38]
Chr8:100883110..100883111 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6047-22T>G single nucleotide variant not provided [RCV004706744]|not specified [RCV000243598] Chr8:99699503 [GRCh38]
Chr8:100711731 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) single nucleotide variant Cohen syndrome [RCV000873406]|Inborn genetic diseases [RCV002429190]|not provided [RCV001699274]|not specified [RCV000253497] Chr8:99854213 [GRCh38]
Chr8:100866441 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.8280T>C (p.Cys2760=) single nucleotide variant Cohen syndrome [RCV001392662]|not specified [RCV000253842] Chr8:99817722 [GRCh38]
Chr8:100829950 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8593C>G (p.Leu2865Val) single nucleotide variant Cohen syndrome [RCV001211144] Chr8:99818860 [GRCh38]
Chr8:100831088 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+34T>C single nucleotide variant not specified [RCV000251624] Chr8:99556687 [GRCh38]
Chr8:100568915 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) single nucleotide variant Cohen syndrome [RCV000824874]|not provided [RCV000255734] Chr8:99147912 [GRCh38]
Chr8:100160140 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11679G>A (p.Gln3893=) single nucleotide variant Cohen syndrome [RCV001494312] Chr8:99871631 [GRCh38]
Chr8:100883859 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) single nucleotide variant Cohen syndrome [RCV000325729]|not specified [RCV000242414] Chr8:99875459 [GRCh38]
Chr8:100887687 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10061+24G>A single nucleotide variant Cohen syndrome [RCV000624962]|not provided [RCV001711746]|not specified [RCV000245200] Chr8:99848918 [GRCh38]
Chr8:100861146 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2451T>C (p.His817=) single nucleotide variant Cohen syndrome [RCV000366705]|Inborn genetic diseases [RCV002317790]|not provided [RCV001706387]|not specified [RCV000247691] Chr8:99192993 [GRCh38]
Chr8:100205221 [GRCh37]
Chr8:8q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.7912T>C (p.Tyr2638His) single nucleotide variant Cohen syndrome [RCV001069348]|not specified [RCV000517572] Chr8:99784447 [GRCh38]
Chr8:100796675 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala) single nucleotide variant Cohen syndrome [RCV000634101]|not specified [RCV000243006] Chr8:99442452 [GRCh38]
Chr8:100454680 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.11044+33C>A single nucleotide variant not provided [RCV001546685]|not specified [RCV000245489] Chr8:99859513 [GRCh38]
Chr8:100871741 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.11052C>G (p.Leu3684=) single nucleotide variant Cohen syndrome [RCV000959401]|not specified [RCV000250446] Chr8:99861783 [GRCh38]
Chr8:100874011 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+33T>G single nucleotide variant Cohen syndrome [RCV000601589]|not provided [RCV004712223]|not specified [RCV000245799] Chr8:99121478 [GRCh38]
Chr8:100133706 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8622-47C>T single nucleotide variant not specified [RCV000245876] Chr8:99819365 [GRCh38]
Chr8:100831593 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4362A>G (p.Glu1454=) single nucleotide variant Cohen syndrome [RCV001500194]|not specified [RCV000248278] Chr8:99511241 [GRCh38]
Chr8:100523469 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1564-16A>T single nucleotide variant Cohen syndrome [RCV002058420]|not specified [RCV000250748] Chr8:99136649 [GRCh38]
Chr8:100148877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) single nucleotide variant Cohen syndrome [RCV000283896]|VPS13B-related disorder [RCV003902405] Chr8:99556565 [GRCh38]
Chr8:100568793 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*431TTA[1] microsatellite Cohen syndrome [RCV000301501] Chr8:99876095..99876097 [GRCh38]
Chr8:100888323..100888325 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3211-11T>C single nucleotide variant Cohen syndrome [RCV000344979] Chr8:99442390 [GRCh38]
Chr8:100454618 [GRCh37]
Chr8:8q22.2		 benign|uncertain significance
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) single nucleotide variant Cohen syndrome [RCV000344901]|VPS13B-related disorder [RCV004742406] Chr8:99832377 [GRCh38]
Chr8:100844605 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*597_*598dup duplication Cohen syndrome [RCV000367841] Chr8:99876261..99876262 [GRCh38]
Chr8:100888489..100888490 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr) single nucleotide variant Cohen syndrome [RCV000393781] Chr8:99641859 [GRCh38]
Chr8:100654087 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) single nucleotide variant Cohen syndrome [RCV000268277]|not provided [RCV003148735]|not specified [RCV001821096] Chr8:99835580 [GRCh38]
Chr8:100847808 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) single nucleotide variant Cohen syndrome [RCV000268723]|Inborn genetic diseases [RCV002519513] Chr8:99096426 [GRCh38]
Chr8:100108654 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*202T>A single nucleotide variant Cohen syndrome [RCV000284904]|not provided [RCV004696043] Chr8:99875868 [GRCh38]
Chr8:100888096 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1212TC[4] microsatellite Cohen syndrome [RCV000285874] Chr8:99876877..99876878 [GRCh38]
Chr8:100889105..100889106 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) single nucleotide variant Cohen syndrome [RCV000303563]|VPS13B-related disorder [RCV004742407] Chr8:99832621 [GRCh38]
Chr8:100844849 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11044+13G>A single nucleotide variant Cohen syndrome [RCV000303972]|not provided [RCV001795996]|not specified [RCV001796745] Chr8:99859493 [GRCh38]
Chr8:100871721 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) single nucleotide variant Cohen syndrome [RCV000323681]|Inborn genetic diseases [RCV002436218]|VPS13B-related disorder [RCV003902404]|not provided [RCV000762534]|not specified [RCV000500194] Chr8:99275134 [GRCh38]
Chr8:100287362 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*33_*36dup duplication Cohen syndrome [RCV000347749]|not provided [RCV001672699] Chr8:99875697..99875698 [GRCh38]
Chr8:100887925..100887926 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.*1355T>G single nucleotide variant Cohen syndrome [RCV000372232]|not provided [RCV004696044] Chr8:99877021 [GRCh38]
Chr8:100889249 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) single nucleotide variant Cohen syndrome [RCV000287883] Chr8:99511430 [GRCh38]
Chr8:100523658 [GRCh37]
Chr8:8q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*1345C>T single nucleotide variant Cohen syndrome [RCV000324633] Chr8:99877011 [GRCh38]
Chr8:100889239 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu) single nucleotide variant Cohen syndrome [RCV000373861] Chr8:99384213 [GRCh38]
Chr8:100396441 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) single nucleotide variant Cohen syndrome [RCV000272061] Chr8:99274265 [GRCh38]
Chr8:100286493 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) single nucleotide variant Cohen syndrome [RCV000287949]|Inborn genetic diseases [RCV003258797]|VPS13B-related disorder [RCV003912549]|not specified [RCV000501573] Chr8:99853773 [GRCh38]
Chr8:100866001 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) single nucleotide variant Cohen syndrome [RCV000328505]|Inborn genetic diseases [RCV002523607]|VPS13B-related disorder [RCV003418078]|not provided [RCV001729563]|not specified [RCV001821095] Chr8:99111101 [GRCh38]
Chr8:100123329 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) single nucleotide variant Cohen syndrome [RCV000328298]|Inborn genetic diseases [RCV004965445]|VPS13B-related disorder [RCV003932491] Chr8:99778927 [GRCh38]
Chr8:100791155 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*140G>A single nucleotide variant Cohen syndrome [RCV000376743] Chr8:99875806 [GRCh38]
Chr8:100888034 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) single nucleotide variant Cohen syndrome [RCV000290420]|VPS13B-related disorder [RCV003922610] Chr8:99875569 [GRCh38]
Chr8:100887797 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*1207G>C single nucleotide variant Cohen syndrome [RCV000378042] Chr8:99876873 [GRCh38]
Chr8:100889101 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) single nucleotide variant Cohen syndrome [RCV000309481]|Inborn genetic diseases [RCV002317855]|VPS13B-related disorder [RCV003922608] Chr8:99832407 [GRCh38]
Chr8:100844635 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala) single nucleotide variant Cohen syndrome [RCV000331260] Chr8:99481797 [GRCh38]
Chr8:100494025 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) single nucleotide variant Cohen syndrome [RCV000353562]|Inborn genetic diseases [RCV002365426]|VPS13B-related disorder [RCV003912547]|not provided [RCV004591135] Chr8:99481745 [GRCh38]
Chr8:100493973 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) single nucleotide variant Cohen syndrome [RCV000379674]|Inborn genetic diseases [RCV002311430]|VPS13B-related disorder [RCV004725187] Chr8:99134714 [GRCh38]
Chr8:100146942 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) single nucleotide variant Cohen syndrome [RCV000402517]|VPS13B-related disorder [RCV003418079]|not provided [RCV001726143] Chr8:99821399 [GRCh38]
Chr8:100833627 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) single nucleotide variant Cohen syndrome [RCV000259605]|Inborn genetic diseases [RCV002523608]|VPS13B-related disorder [RCV003922609]|not provided [RCV000517924] Chr8:99861818 [GRCh38]
Chr8:100874046 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) single nucleotide variant Cohen syndrome [RCV000310577]|VPS13B-related disorder [RCV003922606] Chr8:99442487 [GRCh38]
Chr8:100454715 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*700GAT[1] microsatellite Cohen syndrome [RCV000403342] Chr8:99876365..99876367 [GRCh38]
Chr8:100888593..100888595 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val) single nucleotide variant Cohen syndrome [RCV000403408]|VPS13B-related disorder [RCV004742403] Chr8:99442626 [GRCh38]
Chr8:100454854 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) single nucleotide variant Cohen syndrome [RCV000403552]|Inborn genetic diseases [RCV002314082]|VPS13B-related disorder [RCV003902406] Chr8:99859368 [GRCh38]
Chr8:100871596 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) single nucleotide variant Cohen syndrome [RCV000260271]|Inborn genetic diseases [RCV002311431]|VPS13B-related disorder [RCV003932490]|not provided [RCV000710110]|not specified [RCV000502307] Chr8:99275190 [GRCh38]
Chr8:100287418 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr) single nucleotide variant Cohen syndrome [RCV000276311] Chr8:99720363 [GRCh38]
Chr8:100732591 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1783C>T single nucleotide variant Cohen syndrome [RCV000292907]|not provided [RCV004712423] Chr8:99877449 [GRCh38]
Chr8:100889677 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2934+14A>T single nucleotide variant Cohen syndrome [RCV000293425]|not provided [RCV001712763]|not specified [RCV000781921] Chr8:99384331 [GRCh38]
Chr8:100396559 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn) single nucleotide variant Cohen syndrome [RCV000293711] Chr8:99853489 [GRCh38]
Chr8:100865717 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4746-7T>C single nucleotide variant Cohen syndrome [RCV000383062]|VPS13B-related disorder [RCV003912548] Chr8:99556443 [GRCh38]
Chr8:100568671 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val) single nucleotide variant Cohen syndrome [RCV000405661]|VPS13B-related disorder [RCV004742405] Chr8:99642405 [GRCh38]
Chr8:100654633 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) single nucleotide variant Cohen syndrome [RCV000262224]|not provided [RCV001753838] Chr8:99848776 [GRCh38]
Chr8:100861004 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1540T>C single nucleotide variant Cohen syndrome [RCV000407260] Chr8:99877206 [GRCh38]
Chr8:100889434 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) single nucleotide variant Cohen syndrome [RCV000407798]|VPS13B-related disorder [RCV003401376] Chr8:99853954 [GRCh38]
Chr8:100866182 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) single nucleotide variant Cohen syndrome [RCV000407609]|Inborn genetic diseases [RCV002317854]|not provided [RCV000711295] Chr8:99442433 [GRCh38]
Chr8:100454661 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) single nucleotide variant Cohen syndrome [RCV000263082]|Inborn genetic diseases [RCV002450932]|Intellectual disability [RCV001252625]|VPS13B-related disorder [RCV003418080]|not provided [RCV000513155] Chr8:99868411 [GRCh38]
Chr8:100880639 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.*305G>A single nucleotide variant Cohen syndrome [RCV000278947] Chr8:99875971 [GRCh38]
Chr8:100888199 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1843+10T>C single nucleotide variant Cohen syndrome [RCV000315086]|VPS13B-related disorder [RCV003970060] Chr8:99143175 [GRCh38]
Chr8:100155403 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) single nucleotide variant Cohen syndrome [RCV000360565] Chr8:99832641 [GRCh38]
Chr8:100844869 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) single nucleotide variant Cohen syndrome [RCV000339013]|VPS13B-related disorder [RCV003892128]|not provided [RCV003430941]|not specified [RCV000600412] Chr8:99854144 [GRCh38]
Chr8:100866372 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) single nucleotide variant Cohen syndrome [RCV000339059]|VPS13B-related disorder [RCV003409559]|not provided [RCV001764331]|not specified [RCV000517460] Chr8:99577506 [GRCh38]
Chr8:100589734 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg) single nucleotide variant Cohen syndrome [RCV000362817]|Inborn genetic diseases [RCV004678692] Chr8:99766811 [GRCh38]
Chr8:100779039 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3083-9C>T single nucleotide variant Cohen syndrome [RCV000388991]|VPS13B-related disorder [RCV003972521] Chr8:99431528 [GRCh38]
Chr8:100443756 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) single nucleotide variant Cohen syndrome [RCV000316237] Chr8:99835627 [GRCh38]
Chr8:100847855 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) single nucleotide variant Cohen syndrome [RCV000363716]|Inborn genetic diseases [RCV002314081]|VPS13B-related disorder [RCV003401375]|not specified [RCV000500780] Chr8:99096385 [GRCh38]
Chr8:100108613 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*250_*252dup duplication Cohen syndrome [RCV000342191]|not provided [RCV001653728] Chr8:99875913..99875914 [GRCh38]
Chr8:100888141..100888142 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.*743T>G single nucleotide variant Cohen syndrome [RCV000365372] Chr8:99876409 [GRCh38]
Chr8:100888637 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) single nucleotide variant Cohen syndrome [RCV000300663]|Inborn genetic diseases [RCV003243114]|VPS13B-related disorder [RCV004742404]|not specified [RCV000501281] Chr8:99642253 [GRCh38]
Chr8:100654481 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=) single nucleotide variant Cohen syndrome [RCV000319169] Chr8:99275253 [GRCh38]
Chr8:100287481 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) single nucleotide variant Cohen syndrome [RCV000319748] Chr8:99848844 [GRCh38]
Chr8:100861072 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His) single nucleotide variant Cohen syndrome [RCV000320426] Chr8:99121347 [GRCh38]
Chr8:100133575 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*733A>T single nucleotide variant Cohen syndrome [RCV000269680] Chr8:99876399 [GRCh38]
Chr8:100888627 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) single nucleotide variant Cohen syndrome [RCV001086952]|VPS13B-related disorder [RCV003957440]|not provided [RCV000725620]|not specified [RCV000337184] Chr8:99819541 [GRCh38]
Chr8:100831769 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp) single nucleotide variant Cohen syndrome [RCV000281207] Chr8:99136747 [GRCh38]
Chr8:100148975 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7552_7555del (p.Cys2518fs) microsatellite not provided [RCV000285285] Chr8:99778798..99778801 [GRCh38]
Chr8:100791026..100791029 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) single nucleotide variant Cohen syndrome [RCV001164109]|Inborn genetic diseases [RCV002411160]|VPS13B-related disorder [RCV004742362]|not provided [RCV000306479] Chr8:99817643 [GRCh38]
Chr8:100829871 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9183+6A>G single nucleotide variant VPS13B-related disorder [RCV004742367]|not provided [RCV000378002]|not specified [RCV004701389] Chr8:99821488 [GRCh38]
Chr8:100833716 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) deletion Cohen syndrome [RCV000673645]|Inborn genetic diseases [RCV004678656]|not provided [RCV000299010] Chr8:99661371 [GRCh38]
Chr8:100673599 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) deletion Cohen syndrome [RCV000410131]|VPS13B-related disorder [RCV004742354]|not provided [RCV000300113] Chr8:99766939 [GRCh38]
Chr8:100779167 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2825-4T>A single nucleotide variant Cohen syndrome [RCV001085223]|VPS13B-related disorder [RCV003909971]|not provided [RCV000312428] Chr8:99384204 [GRCh38]
Chr8:100396432 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*1101TGAT[3] microsatellite Cohen syndrome [RCV000273076] Chr8:99876766..99876767 [GRCh38]
Chr8:100888994..100888995 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) deletion Cohen syndrome [RCV000673370]|not provided [RCV000320625] Chr8:99642268..99642269 [GRCh38]
Chr8:100654496..100654497 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) microsatellite Cohen syndrome [RCV000411379]|VPS13B-related disorder [RCV004742355]|not provided [RCV000324904] Chr8:99661366..99661367 [GRCh38]
Chr8:100673594..100673595 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5005dup (p.Ser1669fs) duplication not provided [RCV000334204] Chr8:99575708..99575709 [GRCh38]
Chr8:100587936..100587937 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) single nucleotide variant Cohen syndrome [RCV000792079]|Inborn genetic diseases [RCV002450831]|VPS13B-related disorder [RCV003391056]|not provided [RCV000726533]|not specified [RCV000283079] Chr8:99193013 [GRCh38]
Chr8:100205241 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2569G>C (p.Glu857Gln) single nucleotide variant not provided [RCV000387612] Chr8:99274251 [GRCh38]
Chr8:100286479 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) microsatellite Cohen syndrome [RCV000671822]|VPS13B-related disorder [RCV003409408]|not provided [RCV000286330] Chr8:99819566..99819568 [GRCh38]
Chr8:100831794..100831796 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) single nucleotide variant Cohen syndrome [RCV001859631]|VPS13B-related disorder [RCV003897618]|not provided [RCV000320095] Chr8:99776775 [GRCh38]
Chr8:100789003 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) single nucleotide variant Cohen syndrome [RCV001079204]|Inborn genetic diseases [RCV002401976]|VPS13B-related disorder [RCV003939947]|not provided [RCV000390959] Chr8:99778899 [GRCh38]
Chr8:100791127 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) duplication Cohen syndrome [RCV000409967]|Inborn genetic diseases [RCV000624118]|not provided [RCV000359731] Chr8:99835295..99835296 [GRCh38]
Chr8:100847523..100847524 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) single nucleotide variant Cohen syndrome [RCV001079914]|Inborn genetic diseases [RCV002348015]|VPS13B-related disorder [RCV003920136]|not provided [RCV000393627]|not specified [RCV001820832] Chr8:99467624 [GRCh38]
Chr8:100479852 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.8179C>T (p.Gln2727Ter) single nucleotide variant not provided [RCV000375198] Chr8:99817621 [GRCh38]
Chr8:100829849 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg) single nucleotide variant Cohen syndrome [RCV000277390] Chr8:99038486 [GRCh38]
Chr8:100050714 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) single nucleotide variant Cohen syndrome [RCV001081640]|VPS13B-related disorder [RCV003909990]|not provided [RCV000658165]|not specified [RCV000324644] Chr8:99784336 [GRCh38]
Chr8:100796564 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*1483C>A single nucleotide variant Cohen syndrome [RCV000279809] Chr8:99877149 [GRCh38]
Chr8:100889377 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) single nucleotide variant Cohen syndrome [RCV000408615] Chr8:99156693 [GRCh38]
Chr8:100168921 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) single nucleotide variant Cohen syndrome [RCV000765980]|VPS13B-related disorder [RCV003910016]|not provided [RCV000726218]|not specified [RCV000266439] Chr8:99135699 [GRCh38]
Chr8:100147927 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=) single nucleotide variant Cohen syndrome [RCV001427420]|Inborn genetic diseases [RCV002321966]|not provided [RCV000369620] Chr8:99442445 [GRCh38]
Chr8:100454673 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2651-12A>G single nucleotide variant Cohen syndrome [RCV000268620] Chr8:99275069 [GRCh38]
Chr8:100287297 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys) single nucleotide variant Cohen syndrome [RCV001248066]|VPS13B-related disorder [RCV003409419]|not provided [RCV000301097] Chr8:99193051 [GRCh38]
Chr8:100205279 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) single nucleotide variant Cohen syndrome [RCV000818259]|Inborn genetic diseases [RCV002317803]|VPS13B-related disorder [RCV003391032]|not provided [RCV000370221] Chr8:99147978 [GRCh38]
Chr8:100160206 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) single nucleotide variant Cohen syndrome [RCV001087754]|Inborn genetic diseases [RCV002401997]|VPS13B-related disorder [RCV003940036]|not provided [RCV000726018]|not specified [RCV000407168] Chr8:99853910 [GRCh38]
Chr8:100866138 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5360G>T (p.Ser1787Ile) single nucleotide variant not provided [RCV000489122] Chr8:99641950 [GRCh38]
Chr8:100654178 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3650A>T (p.Lys1217Ile) single nucleotide variant Cohen syndrome [RCV001578970] Chr8:99467618 [GRCh38]
Chr8:100479846 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His) single nucleotide variant Cohen syndrome [RCV001578974] Chr8:99507844 [GRCh38]
Chr8:100520072 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) single nucleotide variant Cohen syndrome [RCV001279381] Chr8:99121360 [GRCh38]
Chr8:100133588 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4616T>C (p.Met1539Thr) single nucleotide variant Cohen syndrome [RCV001279387] Chr8:99511495 [GRCh38]
Chr8:100523723 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10904del (p.Pro3635fs) deletion not provided [RCV001572899] Chr8:99859338 [GRCh38]
Chr8:100871566 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=) single nucleotide variant Cohen syndrome [RCV001279778] Chr8:99835612 [GRCh38]
Chr8:100847840 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.10274G>C (p.Gly3425Ala) single nucleotide variant Cohen syndrome [RCV001279781] Chr8:99853663 [GRCh38]
Chr8:100865891 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4047T>G (p.Val1349=) single nucleotide variant Cohen syndrome [RCV001412273] Chr8:99502840 [GRCh38]
Chr8:100515068 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9330+2T>C single nucleotide variant Cohen syndrome [RCV005091457]|not provided [RCV000579373] Chr8:99823980 [GRCh38]
Chr8:100836208 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2987A>T (p.Asp996Val) single nucleotide variant Inborn genetic diseases [RCV003267979] Chr8:99391609 [GRCh38]
Chr8:100403837 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7892C>T (p.Ala2631Val) single nucleotide variant not provided [RCV000488197] Chr8:99784427 [GRCh38]
Chr8:100796655 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) single nucleotide variant Cohen syndrome [RCV000345287] Chr8:99853815 [GRCh38]
Chr8:100866043 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3667-5C>G single nucleotide variant Cohen syndrome [RCV000361607] Chr8:99481594 [GRCh38]
Chr8:100493822 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys) single nucleotide variant Cohen syndrome [RCV000382996]|VPS13B-related disorder [RCV003897807] Chr8:99115823 [GRCh38]
Chr8:100128051 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8793-7G>A single nucleotide variant Cohen syndrome [RCV000348237] Chr8:99819914 [GRCh38]
Chr8:100832142 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*374ATTT[1] microsatellite Cohen syndrome [RCV000402542] Chr8:99876040..99876043 [GRCh38]
Chr8:100888268..100888271 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu) single nucleotide variant Cohen syndrome [RCV000335301] Chr8:99817723 [GRCh38]
Chr8:100829951 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn) single nucleotide variant Cohen syndrome [RCV000406490] Chr8:99642162 [GRCh38]
Chr8:100654390 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1106_*1108dup duplication Cohen syndrome [RCV000321172] Chr8:99876770..99876771 [GRCh38]
Chr8:100888998..100888999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*336_*353dup duplication Cohen syndrome [RCV000336548] Chr8:99876001..99876002 [GRCh38]
Chr8:100888229..100888230 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8361+12C>T single nucleotide variant Cohen syndrome [RCV000407166]|VPS13B-related disorder [RCV003922607] Chr8:99817815 [GRCh38]
Chr8:100830043 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.*1504_*1507dup duplication Cohen syndrome [RCV000337224] Chr8:99877168..99877169 [GRCh38]
Chr8:100889396..100889397 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*705T>C single nucleotide variant Cohen syndrome [RCV000370333] Chr8:99876371 [GRCh38]
Chr8:100888599 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11496-2A>G single nucleotide variant Cohen syndrome [RCV000533932]|not provided [RCV000522071] Chr8:99871446 [GRCh38]
Chr8:100883674 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) single nucleotide variant Cohen syndrome [RCV000390627]|VPS13B-related disorder [RCV004725188] Chr8:99147951 [GRCh38]
Chr8:100160179 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.99877598T>G single nucleotide variant Cohen syndrome [RCV000266140] Chr8:99877598 [GRCh38]
Chr8:100889826 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4746-14C>T single nucleotide variant Cohen syndrome [RCV000624960] Chr8:99556436 [GRCh38]
Chr8:100568664 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr) single nucleotide variant Cohen syndrome [RCV000324655] Chr8:99784415 [GRCh38]
Chr8:100796643 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro) single nucleotide variant Cohen syndrome [RCV000373653] Chr8:99275182 [GRCh38]
Chr8:100287410 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*270C>T single nucleotide variant Cohen syndrome [RCV000391558] Chr8:99875936 [GRCh38]
Chr8:100888164 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5908+14A>C single nucleotide variant Cohen syndrome [RCV000311646] Chr8:99642512 [GRCh38]
Chr8:100654740 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.-30T>A single nucleotide variant Cohen syndrome [RCV000312637] Chr8:99013347 [GRCh38]
Chr8:100025575 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*740G>C single nucleotide variant Cohen syndrome [RCV000327074] Chr8:99876406 [GRCh38]
Chr8:100888634 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*702dup duplication Cohen syndrome [RCV000313272] Chr8:99876367..99876368 [GRCh38]
Chr8:100888595..100888596 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=) single nucleotide variant Cohen syndrome [RCV000313347] Chr8:99823915 [GRCh38]
Chr8:100836143 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) single nucleotide variant Cohen syndrome [RCV000328888] Chr8:99520952 [GRCh38]
Chr8:100533180 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11393-2A>C single nucleotide variant not provided [RCV000520115] Chr8:99870783 [GRCh38]
Chr8:100883011 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe) single nucleotide variant Cohen syndrome [RCV001578971]|Inborn genetic diseases [RCV000622697] Chr8:99641916 [GRCh38]
Chr8:100654144 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) duplication Cohen syndrome [RCV000592363]|Inborn genetic diseases [RCV004024750]|not provided [RCV000726901] Chr8:99835564..99835565 [GRCh38]
Chr8:100847792..100847793 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10753G>A (p.Asp3585Asn) single nucleotide variant VPS13B-related disorder [RCV004742521]|not provided [RCV000592370] Chr8:99854142 [GRCh38]
Chr8:100866370 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1594C>T (p.Arg532Trp) single nucleotide variant Cohen syndrome [RCV001242970]|VPS13B-related disorder [RCV004742480]|not provided [RCV001805132]|not specified [RCV000516504] Chr8:99136695 [GRCh38]
Chr8:100148923 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1336C>T (p.Gln446Ter) single nucleotide variant not provided [RCV000599085] Chr8:99135048 [GRCh38]
Chr8:100147276 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.816dup (p.Met273fs) duplication Cohen syndrome [RCV001385366]|not provided [RCV000521014] Chr8:99115752..99115753 [GRCh38]
Chr8:100127980..100127981 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) single nucleotide variant Cohen syndrome [RCV002062076]|VPS13B-related disorder [RCV004742529]|not provided [RCV000598005] Chr8:99717370 [GRCh38]
Chr8:100729598 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) single nucleotide variant Cohen syndrome [RCV000984320]|not provided [RCV000599308] Chr8:99721045 [GRCh38]
Chr8:100733273 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8159T>C (p.Val2720Ala) single nucleotide variant VPS13B-related disorder [RCV004742482]|not provided [RCV000518425] Chr8:99817601 [GRCh38]
Chr8:100829829 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) single nucleotide variant Cohen syndrome [RCV000768365]|VPS13B-related disorder [RCV003892691] Chr8:99778728 [GRCh38]
Chr8:100790956 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.78A>G (p.Leu26=) single nucleotide variant Cohen syndrome [RCV002058872]|VPS13B-related disorder [RCV004725206]|not provided [RCV000415782] Chr8:99013866 [GRCh38]
Chr8:100026094 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) indel Cohen syndrome [RCV000409159] Chr8:99391694..99391695 [GRCh38]
Chr8:100403922..100403923 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) deletion Cohen syndrome [RCV000409173] Chr8:99121240 [GRCh38]
Chr8:100133468 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) deletion Cohen syndrome [RCV000409348] Chr8:99442429 [GRCh38]
Chr8:100454657 [GRCh37]
Chr8:8q22.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) deletion Cohen syndrome [RCV000409355] Chr8:99835625 [GRCh38]
Chr8:100847853 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) deletion Cohen syndrome [RCV000409371] Chr8:99135662..99135665 [GRCh38]
Chr8:100147890..100147893 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) deletion Cohen syndrome [RCV000409484] Chr8:99818824 [GRCh38]
Chr8:100831052 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9331-1G>A single nucleotide variant Cohen syndrome [RCV000409532] Chr8:99832368 [GRCh38]
Chr8:100844596 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) single nucleotide variant Cohen syndrome [RCV000409592] Chr8:99820081 [GRCh38]
Chr8:100832309 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) deletion Abnormality of the eye [RCV000504997]|Cohen syndrome [RCV000409691]|not provided [RCV000598802] Chr8:99699773..99699774 [GRCh38]
Chr8:100712001..100712002 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_152564.5(VPS13B):c.1563+1G>A single nucleotide variant Cohen syndrome [RCV000409808] Chr8:99135734 [GRCh38]
Chr8:100147962 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7050+1G>T single nucleotide variant Cohen syndrome [RCV000409821] Chr8:99721048 [GRCh38]
Chr8:100733276 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) duplication Cohen syndrome [RCV000409835] Chr8:99642361..99642362 [GRCh38]
Chr8:100654589..100654590 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) single nucleotide variant Cohen syndrome [RCV000409856] Chr8:99717371 [GRCh38]
Chr8:100729599 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) deletion Cohen syndrome [RCV000409909]|not provided [RCV001561612] Chr8:99871472 [GRCh38]
Chr8:100883700 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) microsatellite Cohen syndrome [RCV000409911] Chr8:99102962..99102963 [GRCh38]
Chr8:100115190..100115191 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7429+2T>C single nucleotide variant Cohen syndrome [RCV000409926] Chr8:99776958 [GRCh38]
Chr8:100789186 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9942+1G>A single nucleotide variant Cohen syndrome [RCV000409975] Chr8:99835739 [GRCh38]
Chr8:100847967 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2268del (p.Val757fs) deletion Cohen syndrome [RCV000409989] Chr8:99170098 [GRCh38]
Chr8:100182326 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2824+2T>C single nucleotide variant Cohen syndrome [RCV000410018]|VPS13B-related disorder [RCV004742409] Chr8:99275256 [GRCh38]
Chr8:100287484 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) single nucleotide variant Cohen syndrome [RCV000410026]|VPS13B-related disorder [RCV004742411]|not provided [RCV001848731] Chr8:99507850 [GRCh38]
Chr8:100520078 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) deletion Cohen syndrome [RCV000410104] Chr8:99148004..99148008 [GRCh38]
Chr8:100160232..100160236 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) single nucleotide variant Cohen syndrome [RCV000410123] Chr8:99766903 [GRCh38]
Chr8:100779131 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8621+2T>G single nucleotide variant Cohen syndrome [RCV000410167] Chr8:99818890 [GRCh38]
Chr8:100831118 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) deletion Cohen syndrome [RCV000410176] Chr8:99431557 [GRCh38]
Chr8:100443785 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.4(VPS13B):c.6733_6748del16 deletion Cohen syndrome [RCV000410227] Chr8:99720342..99720357 [GRCh38]
Chr8:100732570..100732585 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) deletion Cohen syndrome [RCV000410238] Chr8:99431585 [GRCh38]
Chr8:100443813 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) duplication Cohen syndrome [RCV000410386] Chr8:99854061..99854062 [GRCh38]
Chr8:100866289..100866290 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7248-1G>A single nucleotide variant Cohen syndrome [RCV000410423] Chr8:99776774 [GRCh38]
Chr8:100789002 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) single nucleotide variant Cohen syndrome [RCV000410476] Chr8:99818485 [GRCh38]
Chr8:100830713 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) duplication Cohen syndrome [RCV000410502] Chr8:99871532..99871533 [GRCh38]
Chr8:100883760..100883761 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) duplication Cohen syndrome [RCV000410555] Chr8:99875551..99875552 [GRCh38]
Chr8:100887779..100887780 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) single nucleotide variant Cohen syndrome [RCV000410561] Chr8:99699797 [GRCh38]
Chr8:100712025 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_017890.4:c.3542_3543ins5 insertion Cohen syndrome [RCV000410610] Chr8:99467510..99467511 [GRCh38]
Chr8:100479738..100479739 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) deletion Cohen syndrome [RCV000410632] Chr8:99641924 [GRCh38]
Chr8:100654152 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) duplication Cohen syndrome [RCV000410674] Chr8:99501716..99501717 [GRCh38]
Chr8:100513944..100513945 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) single nucleotide variant Cohen syndrome [RCV000410701] Chr8:99871552 [GRCh38]
Chr8:100883780 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) deletion Cohen syndrome [RCV000410722] Chr8:99142991 [GRCh38]
Chr8:100155219 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) deletion Cohen syndrome [RCV000410741] Chr8:99821480 [GRCh38]
Chr8:100833708 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) indel Cohen syndrome [RCV000410755] Chr8:99870863..99870866 [GRCh38]
Chr8:100883091..100883094 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10868-2A>C single nucleotide variant Cohen syndrome [RCV000410769] Chr8:99859302 [GRCh38]
Chr8:100871530 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) single nucleotide variant Cohen syndrome [RCV000410784]|not provided [RCV002222498] Chr8:99102976 [GRCh38]
Chr8:100115204 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) single nucleotide variant Cohen syndrome [RCV000410894] Chr8:99192883 [GRCh38]
Chr8:100205111 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6047-5_6047del deletion Cohen syndrome [RCV000410909] Chr8:99699519..99699524 [GRCh38]
Chr8:100711747..100711752 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.147+1G>A single nucleotide variant Cohen syndrome [RCV000410983] Chr8:99013936 [GRCh38]
Chr8:100026164 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) duplication Cohen syndrome [RCV000410992] Chr8:99391647..99391648 [GRCh38]
Chr8:100403875..100403876 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) single nucleotide variant Cohen syndrome [RCV000411018] Chr8:99096396 [GRCh38]
Chr8:100108624 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.412+1G>A single nucleotide variant Cohen syndrome [RCV000411090] Chr8:99096433 [GRCh38]
Chr8:100108661 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) single nucleotide variant Cohen syndrome [RCV000411092] Chr8:99699777 [GRCh38]
Chr8:100712005 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) deletion Cohen syndrome [RCV000411115] Chr8:99142985..99142992 [GRCh38]
Chr8:100155213..100155220 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) single nucleotide variant Cohen syndrome [RCV000411146] Chr8:99766796 [GRCh38]
Chr8:100779024 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) deletion Cohen syndrome [RCV000411201] Chr8:99821307 [GRCh38]
Chr8:100833535 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) single nucleotide variant Cohen syndrome [RCV000411361] Chr8:99556475 [GRCh38]
Chr8:100568703 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) single nucleotide variant Cohen syndrome [RCV000411447] Chr8:99853495 [GRCh38]
Chr8:100865723 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9184-2_9184del deletion Cohen syndrome [RCV000411468] Chr8:99823828..99823830 [GRCh38]
Chr8:100836056..100836058 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) deletion Cohen syndrome [RCV000411609]|not provided [RCV004999361] Chr8:99868333 [GRCh38]
Chr8:100880561 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) indel Cohen syndrome [RCV000411611] Chr8:99275246 [GRCh38]
Chr8:100287474 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9742+1G>T single nucleotide variant Cohen syndrome [RCV000411617] Chr8:99835325 [GRCh38]
Chr8:100847553 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) deletion Cohen syndrome [RCV000411667] Chr8:99861836..99861845 [GRCh38]
Chr8:100874064..100874073 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11393-1G>A single nucleotide variant Cohen syndrome [RCV000411793] Chr8:99870784 [GRCh38]
Chr8:100883012 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5909-1G>T single nucleotide variant Cohen syndrome [RCV000411803] Chr8:99661353 [GRCh38]
Chr8:100673581 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) deletion Cohen syndrome [RCV000411806] Chr8:99717221 [GRCh38]
Chr8:100729449 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) deletion Cohen syndrome [RCV000411812] Chr8:99835676..99835677 [GRCh38]
Chr8:100847904..100847905 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9615-2A>C single nucleotide variant Cohen syndrome [RCV000411927] Chr8:99835195 [GRCh38]
Chr8:100847423 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) single nucleotide variant Cohen syndrome [RCV000411971] Chr8:99835267 [GRCh38]
Chr8:100847495 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11575del (p.His3859fs) deletion Cohen syndrome [RCV000412009] Chr8:99871527 [GRCh38]
Chr8:100883755 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) single nucleotide variant Cohen syndrome [RCV000412032] Chr8:99875510 [GRCh38]
Chr8:100887738 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) deletion Cohen syndrome [RCV000412055] Chr8:99820011 [GRCh38]
Chr8:100832239 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.4:c.7128_7129ins5 insertion Cohen syndrome [RCV000412067] Chr8:99766776..99766777 [GRCh38]
Chr8:100779004..100779005 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) deletion Cohen syndrome [RCV000412084] Chr8:99835565 [GRCh38]
Chr8:100847793 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11216-1G>A single nucleotide variant Cohen syndrome [RCV000412099] Chr8:99868288 [GRCh38]
Chr8:100880516 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) single nucleotide variant Cohen syndrome [RCV000412148] Chr8:99717186 [GRCh38]
Chr8:100729414 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) deletion Cohen syndrome [RCV000412175]|not provided [RCV000480446] Chr8:99115835..99115838 [GRCh38]
Chr8:100128063..100128066 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) deletion Cohen syndrome [RCV000412199] Chr8:99820116 [GRCh38]
Chr8:100832344 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9614+1G>T single nucleotide variant Cohen syndrome [RCV000412233] Chr8:99832653 [GRCh38]
Chr8:100844881 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) single nucleotide variant Cohen syndrome [RCV000412236]|not provided [RCV003325481] Chr8:99642105 [GRCh38]
Chr8:100654333 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) single nucleotide variant Cohen syndrome [RCV000412237] Chr8:99699821 [GRCh38]
Chr8:100712049 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4746-1G>T single nucleotide variant Cohen syndrome [RCV000412272] Chr8:99556449 [GRCh38]
Chr8:100568677 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs) deletion Cohen syndrome [RCV000412278] Chr8:99835550 [GRCh38]
Chr8:100847778 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) indel Cohen syndrome [RCV000412298] Chr8:99121318..99121319 [GRCh38]
Chr8:100133546..100133547 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.291+1G>A single nucleotide variant Cohen syndrome [RCV000412317] Chr8:99038567 [GRCh38]
Chr8:100050795 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) deletion Cohen syndrome [RCV000412351] Chr8:99720515 [GRCh38]
Chr8:100732743 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) deletion Cohen syndrome [RCV000412362] Chr8:99121279 [GRCh38]
Chr8:100133507 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) deletion Cohen syndrome [RCV000412443] Chr8:99861893..99861894 [GRCh38]
Chr8:100874121..100874122 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) deletion Cohen syndrome [RCV001262673]|not provided [RCV000415911] Chr8:99642026..99642040 [GRCh38]
Chr8:100654254..100654268 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) single nucleotide variant Cohen syndrome [RCV001084311]|Inborn genetic diseases [RCV002402111]|VPS13B-related disorder [RCV003972559]|not provided [RCV000415954]|not specified [RCV000501800] Chr8:99136740 [GRCh38]
Chr8:100148968 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs) deletion Cohen syndrome [RCV001196894]|Short stature [RCV000415177] Chr8:99511424 [GRCh38]
Chr8:100523652 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val) single nucleotide variant Cohen syndrome [RCV000541469] Chr8:99275215 [GRCh38]
Chr8:100287443 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1002T>G (p.Tyr334Ter) single nucleotide variant not provided [RCV000416267] Chr8:99121241 [GRCh38]
Chr8:100133469 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup duplication Retinal dystrophy [RCV000416293] Chr8:8q22.2 likely pathogenic
NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del deletion Retinal dystrophy [RCV000416301] Chr8:8q22.2 pathogenic|likely pathogenic|uncertain significance
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) single nucleotide variant Cohen syndrome [RCV000539744]|not provided [RCV001613344] Chr8:99809443 [GRCh38]
Chr8:100821671 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.8446-1G>T single nucleotide variant Cohen syndrome [RCV000540679]|not provided [RCV001805153] Chr8:99818712 [GRCh38]
Chr8:100830940 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11171_11174dup (p.Leu3726fs) duplication not provided [RCV000413268] Chr8:99861900..99861901 [GRCh38]
Chr8:100874128..100874129 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.581-9dup duplication Cohen syndrome [RCV001523485]|not provided [RCV000727625] Chr8:99111080..99111081 [GRCh38]
Chr8:100123308..100123309 [GRCh37]
Chr8:8q22.2		 benign|uncertain significance
NM_152564.5(VPS13B):c.3595A>G (p.Thr1199Ala) single nucleotide variant not provided [RCV000727654] Chr8:99467563 [GRCh38]
Chr8:100479791 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile) single nucleotide variant Cohen syndrome [RCV001042782]|not provided [RCV000734272] Chr8:99467527 [GRCh38]
Chr8:100479755 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_152564.5(VPS13B):c.412+1G>T single nucleotide variant Abnormal brain morphology [RCV000454258]|Cohen syndrome [RCV003225943] Chr8:99096433 [GRCh38]
Chr8:100108661 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) single nucleotide variant Abnormal brain morphology [RCV000454311]|Cohen syndrome [RCV003497850]|not specified [RCV003330683] Chr8:99013791 [GRCh38]
Chr8:100026019 [GRCh37]
Chr8:8q22.2		 likely pathogenic|uncertain significance
GRCh37/hg19 8q22.2(chr8:100286215-100344358)x1 copy number loss See cases [RCV000446907] Chr8:100286215..100344358 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q22.2(chr8:100221586-100222054)x3 copy number gain See cases [RCV000447630] Chr8:100221586..100222054 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.2(chr8:100638488-100732693)x1 copy number loss See cases [RCV000446580] Chr8:100638488..100732693 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100073432-100594092)x1 copy number loss See cases [RCV000447653] Chr8:100073432..100594092 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+549C>T single nucleotide variant Cohen syndrome [RCV001510944]|not provided [RCV001723989]|not specified [RCV000424631] Chr8:99507752 [GRCh38]
Chr8:100519980 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.292-1G>A single nucleotide variant Cohen syndrome [RCV003984837]|not provided [RCV000419213] Chr8:99096311 [GRCh38]
Chr8:100108539 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) single nucleotide variant Cohen syndrome [RCV000558120]|not provided [RCV000429941] Chr8:99854124 [GRCh38]
Chr8:100866352 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
GRCh37/hg19 8q22.2(chr8:99816841-100523891)x1 copy number loss See cases [RCV000445667] Chr8:99816841..100523891 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) single nucleotide variant Cohen syndrome [RCV001064341]|Inborn genetic diseases [RCV002524704]|VPS13B-related disorder [RCV003897837]|not provided [RCV000436248] Chr8:99818518 [GRCh38]
Chr8:100830746 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2788C>T (p.Gln930Ter) single nucleotide variant not provided [RCV000440511] Chr8:99275218 [GRCh38]
Chr8:100287446 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:100287093-100287625)x1 copy number loss See cases [RCV000448184] Chr8:100287093..100287625 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.11:g.(?_99057631)_(99225625_?)del deletion Schizophrenia [RCV000416726] Chr8:99057631..99225625 [GRCh38]
Chr8:100069859..100237853 [GRCh37]
Chr8:100139035..100307029 [NCBI36]
Chr8:8q22.2		 likely pathogenic
GRCh37/hg19 8q22.2(chr8:100286775-100287625)x3 copy number gain See cases [RCV000448080] Chr8:100286775..100287625 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11124_11125delinsT (p.Asn3709fs) indel not provided [RCV000483748] Chr8:99861855..99861856 [GRCh38]
Chr8:100874083..100874084 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) single nucleotide variant Cohen syndrome [RCV001085315]|Inborn genetic diseases [RCV002311830]|not provided [RCV000514319] Chr8:99853624 [GRCh38]
Chr8:100865852 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.11259del (p.Thr3755fs) deletion not provided [RCV000485494] Chr8:99868332 [GRCh38]
Chr8:100880560 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6309_6310del (p.Ser2104fs) deletion not provided [RCV000479240] Chr8:99699786..99699787 [GRCh38]
Chr8:100712014..100712015 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8793-12T>A single nucleotide variant Cohen syndrome [RCV001401028]|not provided [RCV000483153] Chr8:99819909 [GRCh38]
Chr8:100832137 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys) single nucleotide variant Cohen syndrome [RCV002524329]|Inborn genetic diseases [RCV004678727]|VPS13B-related disorder [RCV003900054]|not specified [RCV000503297] Chr8:99143075 [GRCh38]
Chr8:100155303 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8098-1G>C single nucleotide variant Cohen syndrome [RCV000668997]|not provided [RCV000498849] Chr8:99817539 [GRCh38]
Chr8:100829767 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8320T>C (p.Cys2774Arg) single nucleotide variant not specified [RCV000501092] Chr8:99817762 [GRCh38]
Chr8:100829990 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7247+9T>C single nucleotide variant Cohen syndrome [RCV001450203]|VPS13B-related disorder [RCV004742466]|not specified [RCV000501128] Chr8:99766979 [GRCh38]
Chr8:100779207 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) single nucleotide variant Cohen syndrome [RCV000821626]|Inborn genetic diseases [RCV002524331]|VPS13B-related disorder [RCV004742468]|not provided [RCV000658167]|not specified [RCV000501218] Chr8:99103100 [GRCh38]
Chr8:100115328 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) single nucleotide variant Cohen syndrome [RCV001239531]|Inborn genetic diseases [RCV003243159]|VPS13B-related disorder [RCV003403179]|not provided [RCV002244975]|not specified [RCV000503657] Chr8:99861845 [GRCh38]
Chr8:100874073 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1425+9G>A single nucleotide variant Cohen syndrome [RCV000952568]|not specified [RCV000501402] Chr8:99135146 [GRCh38]
Chr8:100147374 [GRCh37]
Chr8:8q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9868T>C (p.Leu3290=) single nucleotide variant Inborn genetic diseases [RCV002314881]|not specified [RCV000501520] Chr8:99835664 [GRCh38]
Chr8:100847892 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) deletion Cohen syndrome [RCV000503724]|not provided [RCV004591446] Chr8:99661452 [GRCh38]
Chr8:100673680 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile) single nucleotide variant Cohen syndrome [RCV001857183]|VPS13B-related disorder [RCV004742470]|not specified [RCV000501607] Chr8:99556578 [GRCh38]
Chr8:100568806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter) single nucleotide variant Cohen syndrome [RCV001380881]|not provided [RCV000523228] Chr8:99661400 [GRCh38]
Chr8:100673628 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) single nucleotide variant Cohen syndrome [RCV000765981]|Inborn genetic diseases [RCV002524332]|VPS13B-related disorder [RCV003902801]|not provided [RCV004691816]|not specified [RCV000499478] Chr8:99391639 [GRCh38]
Chr8:100403867 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6668G>A (p.Gly2223Asp) single nucleotide variant not specified [RCV000504196] Chr8:99720355 [GRCh38]
Chr8:100732583 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.37T>C (p.Tyr13His) single nucleotide variant not specified [RCV000504237] Chr8:99013825 [GRCh38]
Chr8:100026053 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11355C>T (p.Ile3785=) single nucleotide variant Cohen syndrome [RCV001442590]|VPS13B-related disorder [RCV004742467]|not specified [RCV000504465] Chr8:99868428 [GRCh38]
Chr8:100880656 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1526C>G (p.Thr509Ser) single nucleotide variant not specified [RCV000499797] Chr8:99135696 [GRCh38]
Chr8:100147924 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs) deletion Cohen syndrome [RCV000502057] Chr8:99766822 [GRCh38]
Chr8:100779050 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) single nucleotide variant Cohen syndrome [RCV000872005]|Inborn genetic diseases [RCV002316452]|not provided [RCV003431054]|not specified [RCV000504487] Chr8:99871571 [GRCh38]
Chr8:100883799 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) single nucleotide variant Cohen syndrome [RCV001160661]|not specified [RCV000499902] Chr8:99853518 [GRCh38]
Chr8:100865746 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.162A>G (p.Pro54=) single nucleotide variant Cohen syndrome [RCV001475277]|not specified [RCV000499969] Chr8:99038437 [GRCh38]
Chr8:100050665 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His) single nucleotide variant Cohen syndrome [RCV002524330]|not specified [RCV000502353] Chr8:99875503 [GRCh38]
Chr8:100887731 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9614+8A>T single nucleotide variant not specified [RCV000500277] Chr8:99832660 [GRCh38]
Chr8:100844888 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11495+6A>G single nucleotide variant Cohen syndrome [RCV000945518]|not provided [RCV001568030]|not specified [RCV000500307] Chr8:99870893 [GRCh38]
Chr8:100883121 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1229G>A (p.Ser410Asn) single nucleotide variant Inborn genetic diseases [RCV002527308]|VPS13B-related disorder [RCV004742469]|not specified [RCV000502653] Chr8:99134654 [GRCh38]
Chr8:100146882 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) single nucleotide variant Cohen syndrome [RCV000877296]|Inborn genetic diseases [RCV002413383]|VPS13B-related disorder [RCV003902799]|not provided [RCV004584734]|not specified [RCV000502686] Chr8:99809431 [GRCh38]
Chr8:100821659 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.4633+8C>G single nucleotide variant not specified [RCV000502803] Chr8:99511520 [GRCh38]
Chr8:100523748 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His) single nucleotide variant Cohen syndrome [RCV001205853]|Inborn genetic diseases [RCV004023407]|VPS13B-related disorder [RCV004742465]|not specified [RCV000502903] Chr8:99121239 [GRCh38]
Chr8:100133467 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) single nucleotide variant Cohen syndrome [RCV000923387]|VPS13B-related disorder [RCV003902800]|not provided [RCV003884586]|not specified [RCV000500758] Chr8:99854015 [GRCh38]
Chr8:100866243 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) single nucleotide variant Cohen syndrome [RCV000872066]|Inborn genetic diseases [RCV002376931]|VPS13B-related disorder [RCV003942656]|not provided [RCV004546510]|not specified [RCV000503188] Chr8:99819451 [GRCh38]
Chr8:100831679 [GRCh37]
Chr8:8q22.2		 benign|likely benign
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) single nucleotide variant Cohen syndrome [RCV000673966]|VPS13B-related disorder [RCV003392419]|not provided [RCV000578623] Chr8:99507858 [GRCh38]
Chr8:100520086 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala) single nucleotide variant Cohen syndrome [RCV000793866]|Inborn genetic diseases [RCV003278843]|VPS13B-related disorder [RCV003392324]|not provided [RCV000492966] Chr8:99136728 [GRCh38]
Chr8:100148956 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) single nucleotide variant Cohen syndrome [RCV000634106]|Inborn genetic diseases [RCV004023311]|VPS13B-related disorder [RCV003409683]|not provided [RCV000493326] Chr8:99192898 [GRCh38]
Chr8:100205126 [GRCh37]
Chr8:8q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q22.2(chr8:100604182-100923847)x1 copy number loss See cases [RCV000511046] Chr8:100604182..100923847 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4949+2T>C single nucleotide variant Cohen syndrome [RCV000698485] Chr8:99556655 [GRCh38]
Chr8:100568883 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) deletion Cohen syndrome [RCV000669974] Chr8:99384211 [GRCh38]
Chr8:100396439 [GRCh37]
Chr8:8q22.2		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_152564.5(VPS13B):c.3445+7_3445+9dup duplication Cohen syndrome [RCV000979371]|VPS13B-related disorder [RCV003942704]|not specified [RCV000517485] Chr8:99442640..99442641 [GRCh38]
Chr8:100454868..100454869 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4042+2T>C single nucleotide variant Cohen syndrome [RCV000669010] Chr8:99501860 [GRCh38]
Chr8:100514088 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2515+16609T>G single nucleotide variant Cohen syndrome [RCV000669101] Chr8:99209666 [GRCh38]
Chr8:100221894 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_152564.5(VPS13B):c.9519G>T (p.Gln3173His) single nucleotide variant Inborn genetic diseases [RCV003256174] Chr8:99832557 [GRCh38]
Chr8:100844785 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10169C>T (p.Thr3390Ile) single nucleotide variant Cohen syndrome [RCV000768366] Chr8:99853558 [GRCh38]
Chr8:100865786 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7853G>A (p.Arg2618Gln) single nucleotide variant Cohen syndrome [RCV000634095]|VPS13B-related disorder [RCV003403452] Chr8:99784388 [GRCh38]
Chr8:100796616 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4517G>A (p.Gly1506Asp) single nucleotide variant Cohen syndrome [RCV000634097] Chr8:99511396 [GRCh38]
Chr8:100523624 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys) single nucleotide variant Cohen syndrome [RCV000634099]|Inborn genetic diseases [RCV002529820]|VPS13B-related disorder [RCV003905701]|not provided [RCV004791649] Chr8:99818479 [GRCh38]
Chr8:100830707 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) single nucleotide variant Cohen syndrome [RCV000634100]|VPS13B-related disorder [RCV003965321] Chr8:99641968 [GRCh38]
Chr8:100654196 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3860C>G (p.Thr1287Ser) single nucleotide variant Cohen syndrome [RCV000634105] Chr8:99481792 [GRCh38]
Chr8:100494020 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10682G>A (p.Arg3561Gln) single nucleotide variant Cohen syndrome [RCV000634107]|VPS13B-related disorder [RCV003420100]|not provided [RCV004768488] Chr8:99854071 [GRCh38]
Chr8:100866299 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) single nucleotide variant Cohen syndrome [RCV000634108]|Inborn genetic diseases [RCV002315954]|VPS13B-related disorder [RCV003905702]|not provided [RCV003222070] Chr8:99868385 [GRCh38]
Chr8:100880613 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8498T>G (p.Ile2833Ser) single nucleotide variant Cohen syndrome [RCV000634112]|VPS13B-related disorder [RCV004742543] Chr8:99818765 [GRCh38]
Chr8:100830993 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp) single nucleotide variant Cohen syndrome [RCV000634113]|Inborn genetic diseases [RCV002438673]|VPS13B-related disorder [RCV003424205] Chr8:99861874 [GRCh38]
Chr8:100874102 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=) single nucleotide variant Cohen syndrome [RCV000634115]|VPS13B-related disorder [RCV003945595]|not provided [RCV001726280]|not specified [RCV001700431] Chr8:99193014 [GRCh38]
Chr8:100205242 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=) single nucleotide variant Cohen syndrome [RCV000634118]|VPS13B-related disorder [RCV003918010]|not provided [RCV003432668] Chr8:99819517 [GRCh38]
Chr8:100831745 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2748A>G (p.Pro916=) single nucleotide variant Cohen syndrome [RCV000634119]|Inborn genetic diseases [RCV002438674]|not provided [RCV003432669] Chr8:99275178 [GRCh38]
Chr8:100287406 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) single nucleotide variant Cohen syndrome [RCV001084115]|Inborn genetic diseases [RCV002317384]|VPS13B-related disorder [RCV003892436]|not provided [RCV000734142] Chr8:99859374 [GRCh38]
Chr8:100871602 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1776T>C (p.His592=) single nucleotide variant Cohen syndrome [RCV001401482]|Inborn genetic diseases [RCV002404761]|VPS13B-related disorder [RCV004742544] Chr8:99143098 [GRCh38]
Chr8:100155326 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+9G>T single nucleotide variant Cohen syndrome [RCV000634129]|VPS13B-related disorder [RCV004742545] Chr8:99835747 [GRCh38]
Chr8:100847975 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10821G>A (p.Val3607=) single nucleotide variant Cohen syndrome [RCV001500104] Chr8:99854210 [GRCh38]
Chr8:100866438 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2535C>T (p.Pro845=) single nucleotide variant Cohen syndrome [RCV000634132] Chr8:99274217 [GRCh38]
Chr8:100286445 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) single nucleotide variant Cohen syndrome [RCV000634133]|Inborn genetic diseases [RCV002315955]|not provided [RCV001675947] Chr8:99135706 [GRCh38]
Chr8:100147934 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.975T>G (p.Pro325=) single nucleotide variant Cohen syndrome [RCV000634134] Chr8:99121214 [GRCh38]
Chr8:100133442 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2655T>C (p.Asp885=) single nucleotide variant Cohen syndrome [RCV000634135]|VPS13B-related disorder [RCV003892437] Chr8:99275085 [GRCh38]
Chr8:100287313 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) single nucleotide variant Cohen syndrome [RCV000634136]|Inborn genetic diseases [RCV002315956]|not provided [RCV001613416] Chr8:99143104 [GRCh38]
Chr8:100155332 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.366G>A (p.Pro122=) single nucleotide variant Cohen syndrome [RCV000634138]|VPS13B-related disorder [RCV003928060] Chr8:99096386 [GRCh38]
Chr8:100108614 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.(?_99209572)_(99391724_?)del deletion Cohen syndrome [RCV000634142] Chr8:99209572..99391724 [GRCh38]
Chr8:100221800..100403952 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9517C>T (p.Gln3173Ter) single nucleotide variant Cohen syndrome [RCV000656093] Chr8:99832555 [GRCh38]
Chr8:100844783 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6698T>G (p.Leu2233Arg) single nucleotide variant Cohen syndrome [RCV000558574] Chr8:99720385 [GRCh38]
Chr8:100732613 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs) deletion Cohen syndrome [RCV000537107] Chr8:99699774..99699783 [GRCh38]
Chr8:100712002..100712011 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2515+16596_2515+16608del deletion Cohen syndrome [RCV000672373] Chr8:99209648..99209660 [GRCh38]
Chr8:100221876..100221888 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+4C>T single nucleotide variant Cohen syndrome [RCV001829460]|not provided [RCV000514705] Chr8:99871701 [GRCh38]
Chr8:100883929 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8529G>C (p.Leu2843Phe) single nucleotide variant Inborn genetic diseases [RCV003261821] Chr8:99818796 [GRCh38]
Chr8:100831024 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5909-2A>T single nucleotide variant not provided [RCV000523385] Chr8:99661352 [GRCh38]
Chr8:100673580 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs) insertion Cohen syndrome [RCV000671993] Chr8:99875579..99875580 [GRCh38]
Chr8:100887807..100887808 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10585T>G (p.Leu3529Val) single nucleotide variant Inborn genetic diseases [RCV003299853] Chr8:99853974 [GRCh38]
Chr8:100866202 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100115181-100115348)x1 copy number loss not provided [RCV003312727] Chr8:100115181..100115348 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) single nucleotide variant Cohen syndrome [RCV000533323]|Inborn genetic diseases [RCV002311849]|not provided [RCV000711287]|not specified [RCV002469186] Chr8:99853454 [GRCh38]
Chr8:100865682 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=) single nucleotide variant Cohen syndrome [RCV002066590]|VPS13B-related disorder [RCV003892369]|not specified [RCV000601746] Chr8:99384263 [GRCh38]
Chr8:100396491 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) single nucleotide variant Cohen syndrome [RCV001300243]|VPS13B-related disorder [RCV003419887]|not provided [RCV000513944] Chr8:99192919 [GRCh38]
Chr8:100205147 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1 copy number loss not provided [RCV000512805] Chr8:100587886..100589861 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) single nucleotide variant Cohen syndrome [RCV002524972]|not provided [RCV000513131]|not specified [RCV001821432] Chr8:99467630 [GRCh38]
Chr8:100479858 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1 copy number loss not provided [RCV000513158] Chr8:100050651..100123507 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5387_5390dup (p.Arg1799fs) duplication Inborn genetic diseases [RCV000623172] Chr8:99641974..99641975 [GRCh38]
Chr8:100654202..100654203 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) single nucleotide variant Cohen syndrome [RCV000634094]|VPS13B-related disorder [RCV003905700]|not provided [RCV001356249]|not specified [RCV001821796] Chr8:99642474 [GRCh38]
Chr8:100654702 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln) single nucleotide variant Cohen syndrome [RCV000634096]|VPS13B-related disorder [RCV003424204] Chr8:99556476 [GRCh38]
Chr8:100568704 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2673G>T (p.Leu891Phe) single nucleotide variant Cohen syndrome [RCV000634102] Chr8:99275103 [GRCh38]
Chr8:100287331 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11474A>G (p.Asn3825Ser) single nucleotide variant Cohen syndrome [RCV000634103]|VPS13B-related disorder [RCV003420099]|not provided [RCV002266993] Chr8:99870866 [GRCh38]
Chr8:100883094 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6274A>C (p.Lys2092Gln) single nucleotide variant Cohen syndrome [RCV000634104] Chr8:99699752 [GRCh38]
Chr8:100711980 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1666C>G (p.Gln556Glu) single nucleotide variant Cohen syndrome [RCV000634109] Chr8:99142988 [GRCh38]
Chr8:100155216 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) single nucleotide variant Cohen syndrome [RCV000634111]|Inborn genetic diseases [RCV002529821]|not provided [RCV001508617] Chr8:99835268 [GRCh38]
Chr8:100847496 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) single nucleotide variant Cohen syndrome [RCV000634122]|Inborn genetic diseases [RCV002311977]|not provided [RCV004705734] Chr8:99442603 [GRCh38]
Chr8:100454831 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.4728T>C (p.Leu1576=) single nucleotide variant Cohen syndrome [RCV001463530] Chr8:99520993 [GRCh38]
Chr8:100533221 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) single nucleotide variant Cohen syndrome [RCV000634126]|Inborn genetic diseases [RCV002325219]|VPS13B-related disorder [RCV003928059]|not provided [RCV001797117]|not specified [RCV001816570] Chr8:99431570 [GRCh38]
Chr8:100443798 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3827C>T (p.Thr1276Ile) single nucleotide variant Cohen syndrome [RCV000634127]|VPS13B-related disorder [RCV003945596] Chr8:99481759 [GRCh38]
Chr8:100493987 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3948A>G (p.Gly1316=) single nucleotide variant Cohen syndrome [RCV000634141]|VPS13B-related disorder [RCV004723004] Chr8:99501764 [GRCh38]
Chr8:100513992 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.(?_99274178)_(99721067_?)del deletion Cohen syndrome [RCV000634143] Chr8:99274178..99721067 [GRCh38]
Chr8:100286406..100733295 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) deletion Cohen syndrome [RCV000673396] Chr8:99835712 [GRCh38]
Chr8:100847940 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4158-16A>C single nucleotide variant Cohen syndrome [RCV000673422] Chr8:99507121 [GRCh38]
Chr8:100519349 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) deletion Cohen syndrome [RCV001199914]|not provided [RCV000627618] Chr8:99871652..99871655 [GRCh38]
Chr8:100883880..100883883 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10885_10887del (p.Leu3629del) deletion Cohen syndrome [RCV000656092] Chr8:99859321..99859323 [GRCh38]
Chr8:100871549..100871551 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe) single nucleotide variant Cohen syndrome [RCV000684845]|VPS13B-related disorder [RCV003403581] Chr8:99384263 [GRCh38]
Chr8:100396491 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) deletion Cohen syndrome [RCV000672848] Chr8:99442590..99442625 [GRCh38]
Chr8:100454818..100454853 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs) duplication Cohen syndrome [RCV000672956] Chr8:99875570..99875571 [GRCh38]
Chr8:100887798..100887799 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) duplication Cohen syndrome [RCV000673052] Chr8:99875520..99875521 [GRCh38]
Chr8:100887748..100887749 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=) single nucleotide variant Cohen syndrome [RCV000673101] Chr8:99507137 [GRCh38]
Chr8:100519365 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+556A>G single nucleotide variant Cohen syndrome [RCV000664478] Chr8:99507759 [GRCh38]
Chr8:100519987 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs) duplication Cohen syndrome [RCV000672230] Chr8:99507837..99507838 [GRCh38]
Chr8:100520065..100520066 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8255A>G (p.Glu2752Gly) single nucleotide variant Cohen syndrome [RCV000698487] Chr8:99817697 [GRCh38]
Chr8:100829925 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) deletion Cohen syndrome [RCV000673228] Chr8:99809395..99809420 [GRCh38]
Chr8:100821623..100821648 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10062-2A>G single nucleotide variant Cohen syndrome [RCV000673245] Chr8:99853449 [GRCh38]
Chr8:100865677 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) microsatellite Cohen syndrome [RCV000670730] Chr8:99511416..99511417 [GRCh38]
Chr8:100523644..100523645 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del) microsatellite Cohen syndrome [RCV000670738] Chr8:99875510..99875512 [GRCh38]
Chr8:100887738..100887740 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala) single nucleotide variant Cohen syndrome [RCV000672431] Chr8:99507175 [GRCh38]
Chr8:100519403 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4746-2A>T single nucleotide variant Cohen syndrome [RCV000672443] Chr8:99556448 [GRCh38]
Chr8:100568676 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3666+2T>A single nucleotide variant Cohen syndrome [RCV000672548] Chr8:99467636 [GRCh38]
Chr8:100479864 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del) deletion Cohen syndrome [RCV000670983] Chr8:99853739..99853741 [GRCh38]
Chr8:100865967..100865969 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs) insertion Cohen syndrome [RCV000662044] Chr8:99717294..99717295 [GRCh38]
Chr8:100729522..100729523 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His) single nucleotide variant Cohen syndrome [RCV001049937]|VPS13B-related disorder [RCV004742558]|not provided [RCV000658259] Chr8:99143076 [GRCh38]
Chr8:100155304 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9934_9942+5del deletion Cohen syndrome [RCV000669006] Chr8:99835725..99835738 [GRCh38]
Chr8:100847953..100847966 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6047-1G>A single nucleotide variant Cohen syndrome [RCV000670508] Chr8:99699524 [GRCh38]
Chr8:100711752 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu) single nucleotide variant Cohen syndrome [RCV000670837] Chr8:99507884 [GRCh38]
Chr8:100520112 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del) microsatellite Cohen syndrome [RCV000671342] Chr8:99156569..99156571 [GRCh38]
Chr8:100168797..100168799 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del) microsatellite Cohen syndrome [RCV000669882] Chr8:99853564..99853566 [GRCh38]
Chr8:100865792..100865794 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) single nucleotide variant Cohen syndrome [RCV000669981] Chr8:99192904 [GRCh38]
Chr8:100205132 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs) deletion Cohen syndrome [RCV000671457] Chr8:99853943..99853944 [GRCh38]
Chr8:100866171..100866172 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) deletion Cohen syndrome [RCV000671867] Chr8:99577582 [GRCh38]
Chr8:100589810 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2333+2T>C single nucleotide variant Cohen syndrome [RCV000665038] Chr8:99170165 [GRCh38]
Chr8:100182393 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.803del (p.Asp268fs) deletion Cohen syndrome [RCV000665043] Chr8:99115740 [GRCh38]
Chr8:100127968 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) deletion Cohen syndrome [RCV000677714] Chr8:99854159..99854161 [GRCh38]
Chr8:100866387..100866389 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) indel Cohen syndrome [RCV000670082] Chr8:99275121..99275122 [GRCh38]
Chr8:100287349..100287350 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11732C>T (p.Ala3911Val) single nucleotide variant Cohen syndrome [RCV000698480] Chr8:99871684 [GRCh38]
Chr8:100883912 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) indel Cohen syndrome [RCV000673781] Chr8:99871582..99871583 [GRCh38]
Chr8:100883810..100883811 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=) single nucleotide variant Cohen syndrome [RCV000673855] Chr8:99507806 [GRCh38]
Chr8:100520034 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs) duplication Cohen syndrome [RCV000673947] Chr8:99507196..99507197 [GRCh38]
Chr8:100519424..100519425 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) indel Cohen syndrome [RCV000666709] Chr8:99013895 [GRCh38]
Chr8:100026123 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) single nucleotide variant Cohen syndrome [RCV000667859] Chr8:99121245 [GRCh38]
Chr8:100133473 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1206+19_1206+34del deletion Cohen syndrome [RCV000665383]|VPS13B-related disorder [RCV003945696] Chr8:99121463..99121478 [GRCh38]
Chr8:100133691..100133706 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup) duplication Cohen syndrome [RCV000665396] Chr8:99875587..99875588 [GRCh38]
Chr8:100887815..100887816 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.4(VPS13B):c.10018_10021delGTTG deletion Cohen syndrome [RCV000667131] Chr8:99848775..99848778 [GRCh38]
Chr8:100861003..100861006 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6657+1G>T single nucleotide variant Cohen syndrome [RCV000668268]|Inborn genetic diseases [RCV002360695] Chr8:99717374 [GRCh38]
Chr8:100729602 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) duplication Cohen syndrome [RCV000668378] Chr8:99481617..99481618 [GRCh38]
Chr8:100493845..100493846 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys) single nucleotide variant Cohen syndrome [RCV001830589]|Inborn genetic diseases [RCV002312764]|VPS13B-related disorder [RCV003945739] Chr8:99641985 [GRCh38]
Chr8:100654213 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr) single nucleotide variant Cohen syndrome [RCV000671493] Chr8:99507138 [GRCh38]
Chr8:100519366 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) indel Cohen syndrome [RCV000671494] Chr8:99467471 [GRCh38]
Chr8:100479699 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) duplication Cohen syndrome [RCV000671634] Chr8:99442538..99442539 [GRCh38]
Chr8:100454766..100454767 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) deletion Cohen syndrome [RCV000671779] Chr8:99481713 [GRCh38]
Chr8:100493941 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) microsatellite Cohen syndrome [RCV000671788] Chr8:99853988..99853989 [GRCh38]
Chr8:100866216..100866217 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) duplication Cohen syndrome [RCV000672189] Chr8:99699596..99699597 [GRCh38]
Chr8:100711824..100711825 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4950-1G>C single nucleotide variant Cohen syndrome [RCV000665589] Chr8:99575657 [GRCh38]
Chr8:100587885 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs) duplication Cohen syndrome [RCV000674178] Chr8:99875567..99875568 [GRCh38]
Chr8:100887795..100887796 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) deletion Cohen syndrome [RCV000665744] Chr8:99868432 [GRCh38]
Chr8:100880660 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys) duplication Cohen syndrome [RCV000668495] Chr8:99274260..99274261 [GRCh38]
Chr8:100286488..100286489 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) single nucleotide variant Cohen syndrome [RCV000668515] Chr8:99507798 [GRCh38]
Chr8:100520026 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro) single nucleotide variant Cohen syndrome [RCV000680141] Chr8:99784385 [GRCh38]
Chr8:100796613 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup) duplication Cohen syndrome [RCV000666898] Chr8:99875484..99875485 [GRCh38]
Chr8:100887712..100887713 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) deletion Cohen syndrome [RCV000666929] Chr8:99384238 [GRCh38]
Chr8:100396466 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7999G>A (p.Val2667Met) single nucleotide variant Inborn genetic diseases [RCV002316106]|not provided [RCV004808859] Chr8:99809432 [GRCh38]
Chr8:100821660 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) duplication Cohen syndrome [RCV000667165] Chr8:99875418..99875419 [GRCh38]
Chr8:100887646..100887647 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) duplication Cohen syndrome [RCV000673279] Chr8:99875563..99875564 [GRCh38]
Chr8:100887791..100887792 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) indel Cohen syndrome [RCV000664745]|VPS13B-related disorder [RCV004742560]|not provided [RCV001008386] Chr8:99577567 [GRCh38]
Chr8:100589795 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) deletion Cohen syndrome [RCV000673444] Chr8:99121308..99121311 [GRCh38]
Chr8:100133536..100133539 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) deletion Cohen syndrome [RCV000664918] Chr8:99391640 [GRCh38]
Chr8:100403868 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) deletion Cohen syndrome [RCV000673575] Chr8:99720978 [GRCh38]
Chr8:100733206 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11216-2A>G single nucleotide variant Cohen syndrome [RCV000669791] Chr8:99868287 [GRCh38]
Chr8:100880515 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) duplication Cohen syndrome [RCV000669894] Chr8:99556596..99556597 [GRCh38]
Chr8:100568824..100568825 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3870+1G>T single nucleotide variant Cohen syndrome [RCV000677712] Chr8:99481803 [GRCh38]
Chr8:100494031 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) deletion Cohen syndrome [RCV000677713] Chr8:99853828..99853829 [GRCh38]
Chr8:100866056..100866057 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) deletion Cohen syndrome [RCV000670740] Chr8:99431550 [GRCh38]
Chr8:100443778 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup) duplication Cohen syndrome [RCV000670415] Chr8:99875573..99875574 [GRCh38]
Chr8:100887801..100887802 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) deletion Cohen syndrome [RCV000673941] Chr8:99871453 [GRCh38]
Chr8:100883681 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) deletion Cohen syndrome [RCV000667331] Chr8:99274234..99274241 [GRCh38]
Chr8:100286462..100286469 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) deletion Cohen syndrome [RCV000667350]|VPS13B-related disorder [RCV003420178] Chr8:99853554..99853555 [GRCh38]
Chr8:100865782..100865783 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7780-2A>C single nucleotide variant Cohen syndrome [RCV000667392] Chr8:99784313 [GRCh38]
Chr8:100796541 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) deletion Cohen syndrome [RCV000670574] Chr8:99115824 [GRCh38]
Chr8:100128052 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7941+1G>A single nucleotide variant Cohen syndrome [RCV000670719] Chr8:99784477 [GRCh38]
Chr8:100796705 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) single nucleotide variant Cohen syndrome [RCV000673879] Chr8:99121266 [GRCh38]
Chr8:100133494 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT indel Cohen syndrome [RCV000670423]|VPS13B-related disorder [RCV003907932] Chr8:99819914..99819915 [GRCh38]
Chr8:100832142..100832143 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9331-2A>T single nucleotide variant Cohen syndrome [RCV000670757]|not provided [RCV001698671]|not specified [RCV002249397] Chr8:99832367 [GRCh38]
Chr8:100844595 [GRCh37]
Chr8:8q22.2		 likely pathogenic|benign
NM_152564.5(VPS13B):c.4224+6A>G single nucleotide variant Cohen syndrome [RCV000670833] Chr8:99507209 [GRCh38]
Chr8:100519437 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) single nucleotide variant Cohen syndrome [RCV000667467] Chr8:99121389 [GRCh38]
Chr8:100133617 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) deletion Cohen syndrome [RCV000667574] Chr8:99817609..99817613 [GRCh38]
Chr8:100829837..100829841 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) insertion Cohen syndrome [RCV000672503] Chr8:99776838..99776839 [GRCh38]
Chr8:100789066..100789067 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del) deletion Cohen syndrome [RCV000670945] Chr8:99575677..99575679 [GRCh38]
Chr8:100587905..100587907 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7396del (p.His2466fs) deletion Cohen syndrome [RCV000670950] Chr8:99776922 [GRCh38]
Chr8:100789150 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8445+2T>C single nucleotide variant Cohen syndrome [RCV000671151] Chr8:99818536 [GRCh38]
Chr8:100830764 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1206+40T>C single nucleotide variant Cohen syndrome [RCV000671261] Chr8:99121485 [GRCh38]
Chr8:100133713 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) deletion Cohen syndrome [RCV000671313] Chr8:99871571..99871572 [GRCh38]
Chr8:100883799..100883800 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10061+1G>A single nucleotide variant Cohen syndrome [RCV000671359] Chr8:99848895 [GRCh38]
Chr8:100861123 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del) deletion Cohen syndrome [RCV000665711] Chr8:99511300..99511305 [GRCh38]
Chr8:100523528..100523533 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4950-2dup duplication Cohen syndrome [RCV000672633] Chr8:99575655..99575656 [GRCh38]
Chr8:100587883..100587884 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3082+2T>C single nucleotide variant Cohen syndrome [RCV000673047] Chr8:99391706 [GRCh38]
Chr8:100403934 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) single nucleotide variant Cohen syndrome [RCV000768364]|Inborn genetic diseases [RCV002312465]|not provided [RCV001712735] Chr8:99431658 [GRCh38]
Chr8:100443886 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.2334-2A>G single nucleotide variant Cohen syndrome [RCV000666147] Chr8:99192874 [GRCh38]
Chr8:100205102 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11392+1G>T single nucleotide variant Cohen syndrome [RCV000666192] Chr8:99868466 [GRCh38]
Chr8:100880694 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) microsatellite Cohen syndrome [RCV000666194] Chr8:99832596..99832599 [GRCh38]
Chr8:100844824..100844827 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1303-1G>C single nucleotide variant Cohen syndrome [RCV000674975] Chr8:99135014 [GRCh38]
Chr8:100147242 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6539T>C (p.Ile2180Thr) single nucleotide variant Cohen syndrome [RCV000699103]|VPS13B-related disorder [RCV004742581] Chr8:99717255 [GRCh38]
Chr8:100729483 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3083-2A>C single nucleotide variant Cohen syndrome [RCV000671443] Chr8:99431535 [GRCh38]
Chr8:100443763 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) duplication Cohen syndrome [RCV000671741]|VPS13B-related disorder [RCV003424275]|not provided [RCV001573213]|not specified [RCV003155275] Chr8:99875635..99875636 [GRCh38]
Chr8:100887863..100887864 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) deletion Cohen syndrome [RCV000668051] Chr8:99853748..99853751 [GRCh38]
Chr8:100865976..100865979 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11746-1G>A single nucleotide variant Cohen syndrome [RCV000668082]|not provided [RCV003237983] Chr8:99875417 [GRCh38]
Chr8:100887645 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) deletion Cohen syndrome [RCV000668183] Chr8:99823946..99823949 [GRCh38]
Chr8:100836174..100836177 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) duplication Cohen syndrome [RCV000714846] Chr8:99853673..99853674 [GRCh38]
Chr8:100865901..100865902 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) single nucleotide variant Cohen syndrome [RCV001241463]|Inborn genetic diseases [RCV002316816]|VPS13B-related disorder [RCV004742599]|not provided [RCV001530089] Chr8:99717246 [GRCh38]
Chr8:100729474 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5502G>A (p.Ser1834=) single nucleotide variant Cohen syndrome [RCV000878349]|Inborn genetic diseases [RCV002316837]|VPS13B-related disorder [RCV003938085] Chr8:99642092 [GRCh38]
Chr8:100654320 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del) deletion Cohen syndrome [RCV000666702] Chr8:99809397..99809411 [GRCh38]
Chr8:100821625..100821639 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2516-2A>G single nucleotide variant Cohen syndrome [RCV000671950] Chr8:99274196 [GRCh38]
Chr8:100286424 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs) indel Cohen syndrome [RCV000672228] Chr8:99507771..99507772 [GRCh38]
Chr8:100519999..100520000 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del) deletion Cohen syndrome [RCV000674588] Chr8:99818764..99818766 [GRCh38]
Chr8:100830992..100830994 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) deletion Cohen syndrome [RCV000666116] Chr8:99135016 [GRCh38]
Chr8:100147244 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del) microsatellite Cohen syndrome [RCV000668402] Chr8:99875455..99875457 [GRCh38]
Chr8:100887683..100887685 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup) duplication Cohen syndrome [RCV000668409] Chr8:99875635..99875636 [GRCh38]
Chr8:100887863..100887864 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8361+1G>A single nucleotide variant Cohen syndrome [RCV000668434] Chr8:99817804 [GRCh38]
Chr8:100830032 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2650+1G>A single nucleotide variant Cohen syndrome [RCV000673891] Chr8:99274333 [GRCh38]
Chr8:100286561 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) duplication Cohen syndrome [RCV000674026] Chr8:99868406..99868407 [GRCh38]
Chr8:100880634..100880635 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.6454+1G>C single nucleotide variant Cohen syndrome [RCV000666966] Chr8:99699933 [GRCh38]
Chr8:100712161 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) duplication Cohen syndrome [RCV000672369]|VPS13B-related disorder [RCV003411582] Chr8:99641815..99641816 [GRCh38]
Chr8:100654043..100654044 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=) single nucleotide variant Cohen syndrome [RCV000674907] Chr8:99507860 [GRCh38]
Chr8:100520088 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=) single nucleotide variant Cohen syndrome [RCV000674940] Chr8:99507827 [GRCh38]
Chr8:100520055 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) microsatellite Cohen syndrome [RCV000668599] Chr8:99868451..99868452 [GRCh38]
Chr8:100880679..100880680 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del) microsatellite Cohen syndrome [RCV000668611] Chr8:99861863..99861865 [GRCh38]
Chr8:100874091..100874093 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) insertion Cohen syndrome [RCV000668681] Chr8:99835736..99835737 [GRCh38]
Chr8:100847964..100847965 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4224+725A>T single nucleotide variant Cohen syndrome [RCV000674346] Chr8:99507928 [GRCh38]
Chr8:100520156 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9623T>C (p.Val3208Ala) single nucleotide variant Cohen syndrome [RCV000697986] Chr8:99835205 [GRCh38]
Chr8:100847433 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) duplication Cohen syndrome [RCV000672425]|Inborn genetic diseases [RCV002331310] Chr8:99507899..99507900 [GRCh38]
Chr8:100520127..100520128 [GRCh37]
Chr8:8q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4224+1G>C single nucleotide variant Cohen syndrome [RCV000672703]|not provided [RCV005056418] Chr8:99507204 [GRCh38]
Chr8:100519432 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp) single nucleotide variant Cohen syndrome [RCV000672733] Chr8:99507808 [GRCh38]
Chr8:100520036 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3667-1G>A single nucleotide variant Cohen syndrome [RCV000666527] Chr8:99481598 [GRCh38]
Chr8:100493826 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) duplication Cohen syndrome [RCV000673846] Chr8:99776839..99776840 [GRCh38]
Chr8:100789067..100789068 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1302+2dup duplication Cohen syndrome [RCV000666083] Chr8:99134728..99134729 [GRCh38]
Chr8:100146956..100146957 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs) duplication Cohen syndrome [RCV000674833] Chr8:99875633..99875634 [GRCh38]
Chr8:100887861..100887862 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs) duplication Cohen syndrome [RCV000672853] Chr8:99875637..99875638 [GRCh38]
Chr8:100887865..100887866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn) single nucleotide variant Cohen syndrome [RCV000674012] Chr8:99507847 [GRCh38]
Chr8:100520075 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) deletion Cohen syndrome [RCV000665552] Chr8:99699560 [GRCh38]
Chr8:100711788 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) single nucleotide variant Abnormality of the nervous system [RCV001814211]|Cohen syndrome [RCV000665658]|not provided [RCV001813795] Chr8:99875430 [GRCh38]
Chr8:100887658 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) deletion Cohen syndrome [RCV000673316] Chr8:99121424 [GRCh38]
Chr8:100133652 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe) single nucleotide variant Cohen syndrome [RCV001372513]|Inborn genetic diseases [RCV002316715]|VPS13B-related disorder [RCV003945760] Chr8:99511235 [GRCh38]
Chr8:100523463 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4281C>T (p.Cys1427=) single nucleotide variant Cohen syndrome [RCV002534951]|Inborn genetic diseases [RCV002316759]|VPS13B-related disorder [RCV004742598] Chr8:99507893 [GRCh38]
Chr8:100520121 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.90A>G (p.Leu30=) single nucleotide variant Cohen syndrome [RCV001453759]|Inborn genetic diseases [RCV002316801] Chr8:99013878 [GRCh38]
Chr8:100026106 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) deletion Cohen syndrome [RCV000665769]|See cases [RCV002252202] Chr8:99868309 [GRCh38]
Chr8:100880537 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del) deletion Cohen syndrome [RCV000666858] Chr8:99134686..99134697 [GRCh38]
Chr8:100146914..100146925 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His) single nucleotide variant Cohen syndrome [RCV000673394] Chr8:99507800 [GRCh38]
Chr8:100520028 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7941+20_7941+42del deletion Cohen syndrome [RCV000673441] Chr8:99784496..99784518 [GRCh38]
Chr8:100796724..100796746 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-13G>A single nucleotide variant Cohen syndrome [RCV000664920] Chr8:99577477 [GRCh38]
Chr8:100589705 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) deletion Cohen syndrome [RCV000674736] Chr8:99642242 [GRCh38]
Chr8:100654470 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7051-1G>A single nucleotide variant Cohen syndrome [RCV000666273] Chr8:99766773 [GRCh38]
Chr8:100779001 [GRCh37]
Chr8:8q22.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg) single nucleotide variant Cohen syndrome [RCV000674898] Chr8:99507862 [GRCh38]
Chr8:100520090 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3666+1G>T single nucleotide variant Cohen syndrome [RCV000667390] Chr8:99467635 [GRCh38]
Chr8:100479863 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9942+1G>T single nucleotide variant Cohen syndrome [RCV000667542] Chr8:99835739 [GRCh38]
Chr8:100847967 [GRCh37]
Chr8:8q22.2		 likely pathogenic
GRCh37/hg19 8q22.2(chr8:100121961-100331982)x1 copy number loss not provided [RCV000682945] Chr8:100121961..100331982 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3		 pathogenic
NM_152564.5(VPS13B):c.1418del (p.Ser473fs) deletion Cohen syndrome [RCV000681513] Chr8:99135130 [GRCh38]
Chr8:100147358 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3118T>A (p.Leu1040Met) single nucleotide variant Cohen syndrome [RCV000698508] Chr8:99431572 [GRCh38]
Chr8:100443800 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) single nucleotide variant Cohen syndrome [RCV000685890] Chr8:99384315 [GRCh38]
Chr8:100396543 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11046T>A (p.Gly3682=) single nucleotide variant Cohen syndrome [RCV001471370]|Inborn genetic diseases [RCV002314365] Chr8:99861777 [GRCh38]
Chr8:100874005 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val) single nucleotide variant Cohen syndrome [RCV001228158]|Inborn genetic diseases [RCV004026799]|VPS13B-related disorder [RCV003392553]|not provided [RCV000711292] Chr8:99274299 [GRCh38]
Chr8:100286527 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2816A>G (p.His939Arg) single nucleotide variant Inborn genetic diseases [RCV002440562]|not provided [RCV000711293] Chr8:99275246 [GRCh38]
Chr8:100287474 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3083-1G>A single nucleotide variant Cohen syndrome [RCV001825417]|not provided [RCV000711294] Chr8:99431536 [GRCh38]
Chr8:100443764 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr) single nucleotide variant Cohen syndrome [RCV001275675]|not provided [RCV000711302] Chr8:99778831 [GRCh38]
Chr8:100791059 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) single nucleotide variant Cohen syndrome [RCV001049653]|Inborn genetic diseases [RCV002397496]|VPS13B-related disorder [RCV003424304]|not provided [RCV000711303] Chr8:99778921 [GRCh38]
Chr8:100791149 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) single nucleotide variant Cohen syndrome [RCV001086251]|Inborn genetic diseases [RCV002424736]|not provided [RCV000711304] Chr8:99817686 [GRCh38]
Chr8:100829914 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) single nucleotide variant Cohen syndrome [RCV000702421]|Inborn genetic diseases [RCV004965696]|VPS13B-related disorder [RCV004742583]|not provided [RCV001507742] Chr8:99156583 [GRCh38]
Chr8:100168811 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys) single nucleotide variant Cohen syndrome [RCV001340873]|Inborn genetic diseases [RCV002312793] Chr8:99776789 [GRCh38]
Chr8:100789017 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met) single nucleotide variant Cohen syndrome [RCV001825433]|Inborn genetic diseases [RCV002312797] Chr8:99818716 [GRCh38]
Chr8:100830944 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10881G>A (p.Gly3627=) single nucleotide variant Cohen syndrome [RCV002533002]|Inborn genetic diseases [RCV002316062]|VPS13B-related disorder [RCV004742586] Chr8:99859317 [GRCh38]
Chr8:100871545 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4887G>T (p.Gly1629=) single nucleotide variant Cohen syndrome [RCV000702630]|Inborn genetic diseases [RCV002334361] Chr8:99556591 [GRCh38]
Chr8:100568819 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu) single nucleotide variant Cohen syndrome [RCV001825435]|Inborn genetic diseases [RCV002314389]|not provided [RCV004773124] Chr8:99136687 [GRCh38]
Chr8:100148915 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99096292)_(99193077_?)del deletion Cohen syndrome [RCV000707836] Chr8:99096292..99193077 [GRCh38]
Chr8:100108520..100205305 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter) single nucleotide variant Cohen syndrome [RCV000688450] Chr8:99832454 [GRCh38]
Chr8:100844682 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr) single nucleotide variant Cohen syndrome [RCV000699458]|Inborn genetic diseases [RCV004026474]|VPS13B-related disorder [RCV003420242]|not specified [RCV001816724] Chr8:99859375 [GRCh38]
Chr8:100871603 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) single nucleotide variant Cohen syndrome [RCV000689056]|Inborn genetic diseases [RCV002369848]|VPS13B-related disorder [RCV004742572]|not provided [RCV002469259] Chr8:99832463 [GRCh38]
Chr8:100844691 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11495+4A>G single nucleotide variant Inborn genetic diseases [RCV002314560] Chr8:99870891 [GRCh38]
Chr8:100883119 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu) single nucleotide variant Cohen syndrome [RCV000689193]|Inborn genetic diseases [RCV003303121] Chr8:99275195 [GRCh38]
Chr8:100287423 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99096292)_(99577653_?)del deletion Cohen syndrome [RCV000708473] Chr8:99096292..99577653 [GRCh38]
Chr8:100108520..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3784A>G (p.Thr1262Ala) single nucleotide variant Cohen syndrome [RCV000697338]|VPS13B-related disorder [RCV003392534] Chr8:99481716 [GRCh38]
Chr8:100493944 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9293_9295dup (p.Pro3098dup) duplication Cohen syndrome [RCV000701575] Chr8:99823938..99823939 [GRCh38]
Chr8:100836166..100836167 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.710G>A (p.Arg237His) single nucleotide variant Cohen syndrome [RCV000701576] Chr8:99111227 [GRCh38]
Chr8:100123455 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=) single nucleotide variant Cohen syndrome [RCV001453971]|not provided [RCV000711288] Chr8:99859377 [GRCh38]
Chr8:100871605 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) single nucleotide variant Cohen syndrome [RCV001835935]|Inborn genetic diseases [RCV002369981]|not provided [RCV000711305] Chr8:99819470 [GRCh38]
Chr8:100831698 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1 copy number loss Cohen syndrome [RCV000709914] Chr8:100133404..100133674 [GRCh37]
Chr8:8q22.2		 not provided
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr) single nucleotide variant Cohen syndrome [RCV000690157]|Inborn genetic diseases [RCV002334281]|VPS13B-related disorder [RCV004742574] Chr8:99520910 [GRCh38]
Chr8:100533138 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10069G>A (p.Glu3357Lys) single nucleotide variant Cohen syndrome [RCV000690162] Chr8:99853458 [GRCh38]
Chr8:100865686 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7792G>A (p.Glu2598Lys) single nucleotide variant Cohen syndrome [RCV000688145] Chr8:99784327 [GRCh38]
Chr8:100796555 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2091A>T (p.Lys697Asn) single nucleotide variant Cohen syndrome [RCV000707501] Chr8:99156626 [GRCh38]
Chr8:100168854 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5248G>A (p.Asp1750Asn) single nucleotide variant Cohen syndrome [RCV000707599] Chr8:99641838 [GRCh38]
Chr8:100654066 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.559C>T (p.Arg187Cys) single nucleotide variant Cohen syndrome [RCV000690854]|VPS13B-related disorder [RCV004742575] Chr8:99103099 [GRCh38]
Chr8:100115327 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7247+2T>C single nucleotide variant Cohen syndrome [RCV000707693]|not provided [RCV002273824] Chr8:99766972 [GRCh38]
Chr8:100779200 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|not provided
NM_152564.5(VPS13B):c.5612C>A (p.Thr1871Lys) single nucleotide variant Cohen syndrome [RCV000703076] Chr8:99642202 [GRCh38]
Chr8:100654430 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9413G>A (p.Cys3138Tyr) single nucleotide variant Cohen syndrome [RCV000691062] Chr8:99832451 [GRCh38]
Chr8:100844679 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99115680)_(99193077_?)del deletion Cohen syndrome [RCV000707777] Chr8:99115680..99193077 [GRCh38]
Chr8:100127908..100205305 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99134612)_(99136772_?)del deletion Cohen syndrome [RCV000707871] Chr8:99134612..99136772 [GRCh38]
Chr8:100146840..100149000 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99096292)_(99156763_?)del deletion Cohen syndrome [RCV000708122] Chr8:99096292..99156763 [GRCh38]
Chr8:100108520..100168991 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8633A>T (p.Asp2878Val) single nucleotide variant Cohen syndrome [RCV000696497] Chr8:99819423 [GRCh38]
Chr8:100831651 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99556430)_(99642518_?)del deletion Cohen syndrome [RCV000708226] Chr8:99556430..99642518 [GRCh38]
Chr8:100568658..100654746 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99431517)_(99721067_?)del deletion Cohen syndrome [RCV000708289] Chr8:99431517..99721067 [GRCh38]
Chr8:100443745..100733295 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100025997)_(100133735_?)dup duplication Cohen syndrome [RCV000708347] Chr8:99013769..99121507 [GRCh38]
Chr8:100025997..100133735 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3200T>C (p.Leu1067Pro) single nucleotide variant Cohen syndrome [RCV000701193] Chr8:99431654 [GRCh38]
Chr8:100443882 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1334_1335delinsTT (p.Cys445Phe) indel Cohen syndrome [RCV000692046]|VPS13B-related disorder [RCV004742578] Chr8:99135046..99135047 [GRCh38]
Chr8:100147274..100147275 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3482T>G (p.Phe1161Cys) single nucleotide variant Cohen syndrome [RCV000701328] Chr8:99467450 [GRCh38]
Chr8:100479678 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) single nucleotide variant Cohen syndrome [RCV001160664]|Inborn genetic diseases [RCV002312485] Chr8:99853626 [GRCh38]
Chr8:100865854 [GRCh37]
Chr8:8q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.711T>C (p.Arg237=) single nucleotide variant Cohen syndrome [RCV000873404]|Inborn genetic diseases [RCV002313572]|not provided [RCV003432755] Chr8:99111228 [GRCh38]
Chr8:100123456 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg) single nucleotide variant Cohen syndrome [RCV001207143]|Inborn genetic diseases [RCV002313689]|VPS13B-related disorder [RCV003907993] Chr8:99156583 [GRCh38]
Chr8:100168811 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1652-9T>A single nucleotide variant Cohen syndrome [RCV000768133] Chr8:99142965 [GRCh38]
Chr8:100155193 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10556T>C (p.Leu3519Ser) single nucleotide variant Inborn genetic diseases [RCV002314586] Chr8:99853945 [GRCh38]
Chr8:100866173 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9921C>T (p.Asp3307=) single nucleotide variant Cohen syndrome [RCV001424230]|Inborn genetic diseases [RCV002314588]|VPS13B-related disorder [RCV003907991] Chr8:99835717 [GRCh38]
Chr8:100847945 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7040A>G (p.Asp2347Gly) single nucleotide variant Inborn genetic diseases [RCV002313502] Chr8:99721037 [GRCh38]
Chr8:100733265 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9783C>T (p.Ser3261=) single nucleotide variant Cohen syndrome [RCV000908315]|Inborn genetic diseases [RCV002313524]|VPS13B-related disorder [RCV003907992] Chr8:99835579 [GRCh38]
Chr8:100847807 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) single nucleotide variant Cohen syndrome [RCV001247920]|Inborn genetic diseases [RCV002313609]|VPS13B-related disorder [RCV003403651] Chr8:99103045 [GRCh38]
Chr8:100115273 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.3249T>G (p.Asp1083Glu) single nucleotide variant Inborn genetic diseases [RCV002312452] Chr8:99442439 [GRCh38]
Chr8:100454667 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6930G>A (p.Gly2310=) single nucleotide variant Cohen syndrome [RCV001474131]|Inborn genetic diseases [RCV002313532] Chr8:99720927 [GRCh38]
Chr8:100733155 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) single nucleotide variant Cohen syndrome [RCV001160560]|Inborn genetic diseases [RCV002313622]|VPS13B-related disorder [RCV003420278] Chr8:99819970 [GRCh38]
Chr8:100832198 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) single nucleotide variant Cohen syndrome [RCV000873405]|Inborn genetic diseases [RCV002313575]|VPS13B-related disorder [RCV003928201]|not provided [RCV003432756] Chr8:99575697 [GRCh38]
Chr8:100587925 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) single nucleotide variant Cohen syndrome [RCV001064675]|Inborn genetic diseases [RCV002315388]|VPS13B-related disorder [RCV004742591]|not provided [RCV004800557] Chr8:99854032 [GRCh38]
Chr8:100866260 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) single nucleotide variant Cohen syndrome [RCV001526427]|Inborn genetic diseases [RCV002313544]|VPS13B-related disorder [RCV003420277] Chr8:99384300 [GRCh38]
Chr8:100396528 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7195G>A (p.Asp2399Asn) single nucleotide variant Cohen syndrome [RCV001825438]|Inborn genetic diseases [RCV002315396] Chr8:99766918 [GRCh38]
Chr8:100779146 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11313G>A (p.Ser3771=) single nucleotide variant Cohen syndrome [RCV002533023]|Inborn genetic diseases [RCV002315471]|VPS13B-related disorder [RCV004742594] Chr8:99868386 [GRCh38]
Chr8:100880614 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val) single nucleotide variant Cohen syndrome [RCV001830592]|Inborn genetic diseases [RCV002315430]|VPS13B-related disorder [RCV004742592] Chr8:99817690 [GRCh38]
Chr8:100829918 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) single nucleotide variant Cohen syndrome [RCV001272467]|Inborn genetic diseases [RCV002318053]|VPS13B-related disorder [RCV003424308] Chr8:99859378 [GRCh38]
Chr8:100871606 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9959G>T (p.Gly3320Val) single nucleotide variant Inborn genetic diseases [RCV002316053] Chr8:99848792 [GRCh38]
Chr8:100861020 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6748C>T (p.Gln2250Ter) single nucleotide variant Inborn genetic diseases [RCV002316068] Chr8:99720435 [GRCh38]
Chr8:100732663 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp) single nucleotide variant Cohen syndrome [RCV000814005]|Inborn genetic diseases [RCV002314596] Chr8:99854070 [GRCh38]
Chr8:100866298 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val) single nucleotide variant Cohen syndrome [RCV001055868]|Inborn genetic diseases [RCV002313617] Chr8:99699656 [GRCh38]
Chr8:100711884 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly) single nucleotide variant Cohen syndrome [RCV001862051]|Inborn genetic diseases [RCV002317964] Chr8:99823893 [GRCh38]
Chr8:100836121 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7866G>A (p.Val2622=) single nucleotide variant Cohen syndrome [RCV001041911]|Inborn genetic diseases [RCV002316734] Chr8:99784401 [GRCh38]
Chr8:100796629 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly) single nucleotide variant Cohen syndrome [RCV001066924]|Inborn genetic diseases [RCV002316753] Chr8:99641839 [GRCh38]
Chr8:100654067 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn) single nucleotide variant Cohen syndrome [RCV001308407]|Inborn genetic diseases [RCV002316828] Chr8:99442572 [GRCh38]
Chr8:100454800 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7896T>A (p.Ser2632Arg) single nucleotide variant Inborn genetic diseases [RCV002316867] Chr8:99784431 [GRCh38]
Chr8:100796659 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5469A>G (p.Leu1823=) single nucleotide variant Cohen syndrome [RCV000880454]|Inborn genetic diseases [RCV002318652]|VPS13B-related disorder [RCV003892589] Chr8:99642059 [GRCh38]
Chr8:100654287 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2383A>G (p.Asn795Asp) single nucleotide variant Inborn genetic diseases [RCV002318676] Chr8:99192925 [GRCh38]
Chr8:100205153 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3465G>A (p.Thr1155=) single nucleotide variant Cohen syndrome [RCV001506046]|Inborn genetic diseases [RCV002318711] Chr8:99467433 [GRCh38]
Chr8:100479661 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10974C>G (p.Thr3658=) single nucleotide variant Cohen syndrome [RCV001406471]|Inborn genetic diseases [RCV002318797] Chr8:99859410 [GRCh38]
Chr8:100871638 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3621C>T (p.Leu1207=) single nucleotide variant Cohen syndrome [RCV000878833]|Inborn genetic diseases [RCV002316805]|VPS13B-related disorder [RCV003908007] Chr8:99467589 [GRCh38]
Chr8:100479817 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) single nucleotide variant Cohen syndrome [RCV001164008]|Inborn genetic diseases [RCV002316838] Chr8:99699534 [GRCh38]
Chr8:100711762 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) single nucleotide variant Cohen syndrome [RCV001162085]|Inborn genetic diseases [RCV002316839]|VPS13B-related disorder [RCV004742600] Chr8:99778968 [GRCh38]
Chr8:100791196 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro) single nucleotide variant Cohen syndrome [RCV001362318]|Inborn genetic diseases [RCV002318801] Chr8:99577625 [GRCh38]
Chr8:100589853 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) single nucleotide variant Cohen syndrome [RCV001272339]|Inborn genetic diseases [RCV002318836]|VPS13B-related disorder [RCV003892591]|not specified [RCV004997252] Chr8:99121312 [GRCh38]
Chr8:100133540 [GRCh37]
Chr8:8q22.2		 benign|likely benign|uncertain significance
NM_152564.5(VPS13B):c.9942+4A>G single nucleotide variant Cohen syndrome [RCV001349899]|Inborn genetic diseases [RCV002318848] Chr8:99835742 [GRCh38]
Chr8:100847970 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=) single nucleotide variant Cohen syndrome [RCV000873214]|Inborn genetic diseases [RCV002318851]|VPS13B-related disorder [RCV003908006] Chr8:99135721 [GRCh38]
Chr8:100147949 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.723A>G (p.Thr241=) single nucleotide variant Cohen syndrome [RCV001474564]|Inborn genetic diseases [RCV002315467]|VPS13B-related disorder [RCV003938080] Chr8:99111240 [GRCh38]
Chr8:100123468 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1552A>T (p.Thr518Ser) single nucleotide variant not provided [RCV001573468] Chr8:99135722 [GRCh38]
Chr8:100147950 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.(?_99274178)_(99577653_?)del deletion Cohen syndrome [RCV000813964] Chr8:99274178..99577653 [GRCh38]
Chr8:100286406..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7295C>T (p.Thr2432Ile) single nucleotide variant Cohen syndrome [RCV001578972] Chr8:99776822 [GRCh38]
Chr8:100789050 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5077-311A>G single nucleotide variant not provided [RCV001545583] Chr8:99577179 [GRCh38]
Chr8:100589407 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.11:g.(?_99047163)_(99227439_?)del deletion Schizophrenia [RCV000754354] Chr8:99047163..99227439 [GRCh38]
Chr8:8q22.2		 likely pathogenic
NC_000008.11:g.(?_99118484)_(99159135_?)del deletion Schizophrenia [RCV000754355] Chr8:99118484..99159135 [GRCh38]
Chr8:8q22.2		 likely pathogenic
GRCh37/hg19 8q22.2(chr8:100032844-100528645)x3 copy number gain not provided [RCV000747732] Chr8:100032844..100528645 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8q22.2(chr8:100111153-100351288)x3 copy number gain not provided [RCV000747733] Chr8:100111153..100351288 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8q22.2(chr8:100111153-100371704)x3 copy number gain not provided [RCV000747734] Chr8:100111153..100371704 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8q22.2(chr8:100111153-100544470)x3 copy number gain not provided [RCV000747735] Chr8:100111153..100544470 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8q22.2(chr8:100205147-100252754)x3 copy number gain not provided [RCV000747736] Chr8:100205147..100252754 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8q22.2(chr8:100242018-100515757)x1 copy number loss not provided [RCV000747737] Chr8:100242018..100515757 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8098-312G>A single nucleotide variant not provided [RCV001583134] Chr8:99817228 [GRCh38]
Chr8:100829456 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+97G>C single nucleotide variant Cohen syndrome [RCV001532824]|not provided [RCV001615249] Chr8:99275351 [GRCh38]
Chr8:100287579 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9615-331C>T single nucleotide variant not provided [RCV001692503] Chr8:99834866 [GRCh38]
Chr8:100847094 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.5909-161G>A single nucleotide variant not provided [RCV001724485] Chr8:99661193 [GRCh38]
Chr8:100673421 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9186A>G (p.Leu3062=) single nucleotide variant Cohen syndrome [RCV001436336]|VPS13B-related disorder [RCV004743196] Chr8:99823834 [GRCh38]
Chr8:100836062 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2935-192_2935-191insTA insertion not provided [RCV001611319] Chr8:99391365..99391366 [GRCh38]
Chr8:100403593..100403594 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2013+60_2013+61del deletion not provided [RCV001708969] Chr8:99148055..99148056 [GRCh38]
Chr8:100160283..100160284 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.291+137_291+139del deletion not provided [RCV001571773] Chr8:99038680..99038682 [GRCh38]
Chr8:100050908..100050910 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2013+100G>T single nucleotide variant not provided [RCV001610236] Chr8:99148110 [GRCh38]
Chr8:100160338 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.291+139dup duplication not provided [RCV001612733] Chr8:99038679..99038680 [GRCh38]
Chr8:100050907..100050908 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.6046+210G>A single nucleotide variant not provided [RCV001586207] Chr8:99661701 [GRCh38]
Chr8:100673929 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7146G>A (p.Gln2382=) single nucleotide variant Cohen syndrome [RCV001450779] Chr8:99766869 [GRCh38]
Chr8:100779097 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844-8_1844-4del deletion Cohen syndrome [RCV000977268]|VPS13B-related disorder [RCV004743236] Chr8:99147830..99147834 [GRCh38]
Chr8:100160058..100160062 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+232del deletion not provided [RCV001693136] Chr8:99274560 [GRCh38]
Chr8:100286788 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.5988A>G (p.Lys1996=) single nucleotide variant Cohen syndrome [RCV000873416] Chr8:99661433 [GRCh38]
Chr8:100673661 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.938-164T>G single nucleotide variant not provided [RCV001567558] Chr8:99121013 [GRCh38]
Chr8:100133241 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.420G>T (p.Val140=) single nucleotide variant Cohen syndrome [RCV000978791] Chr8:99102960 [GRCh38]
Chr8:100115188 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8037C>T (p.Tyr2679=) single nucleotide variant Cohen syndrome [RCV001479151] Chr8:99809470 [GRCh38]
Chr8:100821698 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) deletion Cohen syndrome [RCV001588016] Chr8:99577561 [GRCh38]
Chr8:100589789 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.750A>G (p.Pro250=) single nucleotide variant Cohen syndrome [RCV001435061] Chr8:99111267 [GRCh38]
Chr8:100123495 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9183+197G>C single nucleotide variant not provided [RCV001586530] Chr8:99821679 [GRCh38]
Chr8:100833907 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) deletion Cohen syndrome [RCV000761345] Chr8:99384271 [GRCh38]
Chr8:100396499 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs) deletion Cohen syndrome [RCV001002697] Chr8:99103008..99103011 [GRCh38]
Chr8:100115236..100115239 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) single nucleotide variant Cohen syndrome [RCV003768283]|not provided [RCV000760308] Chr8:99835216 [GRCh38]
Chr8:100847444 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.502G>A (p.Val168Ile) single nucleotide variant not provided [RCV000762531] Chr8:99103042 [GRCh38]
Chr8:100115270 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys) single nucleotide variant Cohen syndrome [RCV001869050]|not provided [RCV000762532] Chr8:99115763 [GRCh38]
Chr8:100127991 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) single nucleotide variant Cohen syndrome [RCV001061971]|Inborn genetic diseases [RCV002424759]|not provided [RCV000762533] Chr8:99274221 [GRCh38]
Chr8:100286449 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8252T>C (p.Leu2751Pro) single nucleotide variant not provided [RCV000762535] Chr8:99817694 [GRCh38]
Chr8:100829922 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100123326-100182391) copy number loss Cohen syndrome [RCV001004102] Chr8:100123326..100182391 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7939C>T (p.Gln2647Ter) single nucleotide variant not provided [RCV000760711] Chr8:99784474 [GRCh38]
Chr8:100796702 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter) single nucleotide variant Cohen syndrome [RCV002533847]|not provided [RCV000760792] Chr8:99778699 [GRCh38]
Chr8:100790927 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10867+11A>G single nucleotide variant Cohen syndrome [RCV001164308] Chr8:99854267 [GRCh38]
Chr8:100866495 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) single nucleotide variant Cohen syndrome [RCV001164309]|VPS13B-related disorder [RCV003945884]|not specified [RCV001819865] Chr8:99859445 [GRCh38]
Chr8:100871673 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*701A>T single nucleotide variant Cohen syndrome [RCV001164426] Chr8:99876367 [GRCh38]
Chr8:100888595 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) duplication Cohen syndrome [RCV000988104] Chr8:99870818..99870819 [GRCh38]
Chr8:100883046..100883047 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99520889)_(99521020_?)del deletion Cohen syndrome [RCV001031872] Chr8:100533117..100533248 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99134631)_(99511512_?)dup duplication Cohen syndrome [RCV001032253] Chr8:100146859..100523740 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2244T>G (p.Asp748Glu) single nucleotide variant Cohen syndrome [RCV001065683] Chr8:99170074 [GRCh38]
Chr8:100182302 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99096312)_(99148010_?)del deletion Cohen syndrome [RCV001031992] Chr8:100108540..100160238 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9186A>T (p.Leu3062Phe) single nucleotide variant Cohen syndrome [RCV001065892] Chr8:99823834 [GRCh38]
Chr8:100836062 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala) single nucleotide variant Cohen syndrome [RCV001066141]|Inborn genetic diseases [RCV004963089]|not provided [RCV004693564] Chr8:99170153 [GRCh38]
Chr8:100182381 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10867+96T>A single nucleotide variant not provided [RCV001565414] Chr8:99854352 [GRCh38]
Chr8:100866580 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg) single nucleotide variant Cohen syndrome [RCV001067499]|VPS13B-related disorder [RCV004743281] Chr8:99274204 [GRCh38]
Chr8:100286432 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6158A>G (p.His2053Arg) single nucleotide variant Cohen syndrome [RCV001044891] Chr8:99699636 [GRCh38]
Chr8:100711864 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.821T>G (p.Phe274Cys) single nucleotide variant Cohen syndrome [RCV001044892] Chr8:99115758 [GRCh38]
Chr8:100127986 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11098C>T (p.Arg3700Trp) single nucleotide variant Cohen syndrome [RCV001066882]|VPS13B-related disorder [RCV004743279] Chr8:99861829 [GRCh38]
Chr8:100874057 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8365C>T (p.Pro2789Ser) single nucleotide variant Cohen syndrome [RCV001889024] Chr8:99818454 [GRCh38]
Chr8:100830682 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+16258T>C single nucleotide variant not provided [RCV001547516] Chr8:99209315 [GRCh38]
Chr8:100221543 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2209-334G>A single nucleotide variant not provided [RCV001567294] Chr8:99169705 [GRCh38]
Chr8:100181933 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val) single nucleotide variant Cohen syndrome [RCV001067262]|VPS13B-related disorder [RCV004743280] Chr8:99641841 [GRCh38]
Chr8:100654069 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) single nucleotide variant Cohen syndrome [RCV001588017] Chr8:99778903 [GRCh38]
Chr8:100791131 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) insertion Cohen syndrome [RCV001588018] Chr8:99511165..99511166 [GRCh38]
Chr8:100523393..100523394 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.11:g.(?_99520899)_(99584089_?)del deletion Cohen syndrome [RCV001031503] Chr8:100533127..100596317 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4225-199C>T single nucleotide variant not provided [RCV001567340] Chr8:99510905 [GRCh38]
Chr8:100523133 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) deletion Retinitis pigmentosa [RCV001199597]|not provided [RCV001091695] Chr8:99661424..99661425 [GRCh38]
Chr8:100673652..100673653 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2333+303del deletion not provided [RCV001575563] Chr8:99170460 [GRCh38]
Chr8:100182688 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-99_9331-98dup duplication Cohen syndrome [RCV001827494]|not provided [RCV001568639] Chr8:99832259..99832260 [GRCh38]
Chr8:100844487..100844488 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) single nucleotide variant Cohen syndrome [RCV001164204]|not provided [RCV003327492] Chr8:99832645 [GRCh38]
Chr8:100844873 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4042+90TCTG[7] microsatellite not provided [RCV001679549] Chr8:99501947..99501948 [GRCh38]
Chr8:100514175..100514176 [GRCh37]
Chr8:8q22.2		 benign
NC_000008.11:g.(?_99135005)_(99143175_?)del deletion Cohen syndrome [RCV001032071] Chr8:100147233..100155403 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99013769)_(99038586_?)dup duplication Cohen syndrome [RCV001032108] Chr8:100025997..100050814 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.207A>T (p.Val69=) single nucleotide variant Cohen syndrome [RCV001279379]|VPS13B-related disorder [RCV004743206] Chr8:99038482 [GRCh38]
Chr8:100050710 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.147+8_147+15del deletion Cohen syndrome [RCV001402446] Chr8:99013939..99013946 [GRCh38]
Chr8:100026167..100026174 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) single nucleotide variant Cohen syndrome [RCV000903289]|Inborn genetic diseases [RCV002434194]|VPS13B-related disorder [RCV003910787] Chr8:99384268 [GRCh38]
Chr8:100396496 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10713C>T (p.Leu3571=) single nucleotide variant Cohen syndrome [RCV000926598] Chr8:99854102 [GRCh38]
Chr8:100866330 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11045-6C>T single nucleotide variant Cohen syndrome [RCV001444853]|VPS13B-related disorder [RCV004742674] Chr8:99861770 [GRCh38]
Chr8:100873998 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10173G>A (p.Leu3391=) single nucleotide variant Cohen syndrome [RCV000983724] Chr8:99853562 [GRCh38]
Chr8:100865790 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=) single nucleotide variant Cohen syndrome [RCV000878521]|VPS13B-related disorder [RCV003930465] Chr8:99575694 [GRCh38]
Chr8:100587922 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7429+14dup duplication Cohen syndrome [RCV000921722] Chr8:99776962..99776963 [GRCh38]
Chr8:100789190..100789191 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.7051-7A>C single nucleotide variant Cohen syndrome [RCV001411830] Chr8:99766767 [GRCh38]
Chr8:100778995 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) single nucleotide variant Cohen syndrome [RCV000877688]|Inborn genetic diseases [RCV002390848]|VPS13B-related disorder [RCV003955761] Chr8:99853647 [GRCh38]
Chr8:100865875 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) single nucleotide variant Cohen syndrome [RCV000878816]|Inborn genetic diseases [RCV002390854]|VPS13B-related disorder [RCV003938403] Chr8:99853699 [GRCh38]
Chr8:100865927 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=) single nucleotide variant Cohen syndrome [RCV000878983] Chr8:99871568 [GRCh38]
Chr8:100883796 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11517C>T (p.Gly3839=) single nucleotide variant Cohen syndrome [RCV001447984] Chr8:99871469 [GRCh38]
Chr8:100883697 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=) single nucleotide variant Cohen syndrome [RCV000951212]|VPS13B-related disorder [RCV003933311] Chr8:99859428 [GRCh38]
Chr8:100871656 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) single nucleotide variant Cohen syndrome [RCV000950528] Chr8:99143147 [GRCh38]
Chr8:100155375 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) single nucleotide variant Cohen syndrome [RCV000898856]|VPS13B-related disorder [RCV003983259] Chr8:99192975 [GRCh38]
Chr8:100205203 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.11058C>T (p.Ser3686=) single nucleotide variant Cohen syndrome [RCV000882167] Chr8:99861789 [GRCh38]
Chr8:100874017 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11215+7G>A single nucleotide variant Cohen syndrome [RCV001432353] Chr8:99861953 [GRCh38]
Chr8:100874181 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) single nucleotide variant Cohen syndrome [RCV000927665]|Inborn genetic diseases [RCV002427301]|VPS13B-related disorder [RCV003925791]|not provided [RCV003321764] Chr8:99859395 [GRCh38]
Chr8:100871623 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.10545C>T (p.Tyr3515=) single nucleotide variant Cohen syndrome [RCV001472822] Chr8:99853934 [GRCh38]
Chr8:100866162 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3082+9C>G single nucleotide variant Cohen syndrome [RCV000928833]|VPS13B-related disorder [RCV003960473] Chr8:99391713 [GRCh38]
Chr8:100403941 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=) single nucleotide variant Cohen syndrome [RCV001490641] Chr8:99832623 [GRCh38]
Chr8:100844851 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=) single nucleotide variant Cohen syndrome [RCV000946372]|Inborn genetic diseases [RCV002427377]|VPS13B-related disorder [RCV003942997] Chr8:99859476 [GRCh38]
Chr8:100871704 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=) single nucleotide variant Cohen syndrome [RCV000924357] Chr8:99721044 [GRCh38]
Chr8:100733272 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10023A>G (p.Pro3341=) single nucleotide variant Cohen syndrome [RCV001422498]|VPS13B-related disorder [RCV004743205] Chr8:99848856 [GRCh38]
Chr8:100861084 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=) single nucleotide variant Cohen syndrome [RCV000877683]|VPS13B-related disorder [RCV004742670] Chr8:99859326 [GRCh38]
Chr8:100871554 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.18A>G (p.Val6=) single nucleotide variant Cohen syndrome [RCV001412622] Chr8:99013806 [GRCh38]
Chr8:100026034 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+7A>G single nucleotide variant Cohen syndrome [RCV001417585] Chr8:99854263 [GRCh38]
Chr8:100866491 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=) single nucleotide variant Cohen syndrome [RCV003497891]|VPS13B-related disorder [RCV003968150] Chr8:99699550 [GRCh38]
Chr8:100711778 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.11045-4T>C single nucleotide variant Cohen syndrome [RCV000983545] Chr8:99861772 [GRCh38]
Chr8:100874000 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5439C>T (p.Asp1813=) single nucleotide variant Cohen syndrome [RCV000944507] Chr8:99642029 [GRCh38]
Chr8:100654257 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8664A>G (p.Thr2888=) single nucleotide variant Cohen syndrome [RCV001499331] Chr8:99819454 [GRCh38]
Chr8:100831682 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=) single nucleotide variant Cohen syndrome [RCV000964587]|VPS13B-related disorder [RCV004743229] Chr8:99717280 [GRCh38]
Chr8:100729508 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5982C>T (p.Asp1994=) single nucleotide variant Cohen syndrome [RCV001495338] Chr8:99661427 [GRCh38]
Chr8:100673655 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) single nucleotide variant Cohen syndrome [RCV000929006]|Inborn genetic diseases [RCV002372590]|not provided [RCV003432926] Chr8:99832486 [GRCh38]
Chr8:100844714 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8118G>A (p.Gln2706=) single nucleotide variant Cohen syndrome [RCV000944568] Chr8:99817560 [GRCh38]
Chr8:100829788 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3522C>T (p.Cys1174=) single nucleotide variant Cohen syndrome [RCV001461348] Chr8:99467490 [GRCh38]
Chr8:100479718 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2014-2A>G single nucleotide variant Cohen syndrome [RCV000984495]|not provided [RCV001702873] Chr8:99156547 [GRCh38]
Chr8:100168775 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=) single nucleotide variant Cohen syndrome [RCV000884729]|VPS13B-related disorder [RCV004742675]|not provided [RCV002065494] Chr8:99854198 [GRCh38]
Chr8:100866426 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=) single nucleotide variant Cohen syndrome [RCV000983709] Chr8:99819493 [GRCh38]
Chr8:100831721 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) single nucleotide variant Cohen syndrome [RCV000925519] Chr8:99170074 [GRCh38]
Chr8:100182302 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=) single nucleotide variant Cohen syndrome [RCV000950315]|VPS13B-related disorder [RCV003960610] Chr8:99135700 [GRCh38]
Chr8:100147928 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2567T>C (p.Val856Ala) single nucleotide variant Cohen syndrome [RCV001040439] Chr8:99274249 [GRCh38]
Chr8:100286477 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val) single nucleotide variant Cohen syndrome [RCV001061252]|Inborn genetic diseases [RCV002451259] Chr8:99481605 [GRCh38]
Chr8:100493833 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99096302)_(99136762_?)del deletion Cohen syndrome [RCV001032868] Chr8:100108530..100148990 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile) single nucleotide variant Cohen syndrome [RCV001038722]|Inborn genetic diseases [RCV004678896] Chr8:99431560 [GRCh38]
Chr8:100443788 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter) single nucleotide variant Cohen syndrome [RCV001047393] Chr8:99861862 [GRCh38]
Chr8:100874090 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9128A>G (p.Glu3043Gly) single nucleotide variant Cohen syndrome [RCV001062464] Chr8:99821427 [GRCh38]
Chr8:100833655 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5608G>A (p.Val1870Met) single nucleotide variant Cohen syndrome [RCV001062477] Chr8:99642198 [GRCh38]
Chr8:100654426 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) single nucleotide variant Cohen syndrome [RCV001069351]|Inborn genetic diseases [RCV004963097]|VPS13B-related disorder [RCV004743283] Chr8:99115871 [GRCh38]
Chr8:100128099 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly) single nucleotide variant Cohen syndrome [RCV001061557] Chr8:99143084 [GRCh38]
Chr8:100155312 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4231A>G (p.Thr1411Ala) single nucleotide variant Cohen syndrome [RCV001069500]|Inborn genetic diseases [RCV004030716] Chr8:99511110 [GRCh38]
Chr8:100523338 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.8177G>A (p.Gly2726Asp) single nucleotide variant Cohen syndrome [RCV001056223]|Inborn genetic diseases [RCV004963061]|VPS13B-related disorder [RCV004743271] Chr8:99817619 [GRCh38]
Chr8:100829847 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5095C>T (p.His1699Tyr) single nucleotide variant Cohen syndrome [RCV001035436] Chr8:99577508 [GRCh38]
Chr8:100589736 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99121167)_(99721057_?)del deletion Cohen syndrome [RCV001033681] Chr8:100133395..100733285 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr) single nucleotide variant Cohen syndrome [RCV001051495]|VPS13B-related disorder [RCV003413854] Chr8:99507892 [GRCh38]
Chr8:100520120 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.412+1G>C single nucleotide variant Cohen syndrome [RCV001039389] Chr8:99096433 [GRCh38]
Chr8:100108661 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1615G>A (p.Asp539Asn) single nucleotide variant Cohen syndrome [RCV001039482] Chr8:99136716 [GRCh38]
Chr8:100148944 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8671A>G (p.Ile2891Val) single nucleotide variant Cohen syndrome [RCV001050042] Chr8:99819461 [GRCh38]
Chr8:100831689 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala) single nucleotide variant Cohen syndrome [RCV001051534]|Inborn genetic diseases [RCV002553739] Chr8:99641854 [GRCh38]
Chr8:100654082 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.250A>G (p.Asn84Asp) single nucleotide variant Cohen syndrome [RCV001037956] Chr8:99038525 [GRCh38]
Chr8:100050753 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs) duplication Cohen syndrome [RCV001052238] Chr8:99642128..99642129 [GRCh38]
Chr8:100654356..100654357 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9830C>T (p.Pro3277Leu) single nucleotide variant Cohen syndrome [RCV001042602]|VPS13B-related disorder [RCV003405232] Chr8:99835626 [GRCh38]
Chr8:100847854 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs) deletion Cohen syndrome [RCV001059758] Chr8:99784363 [GRCh38]
Chr8:100796591 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) duplication Cohen syndrome [RCV001048301]|VPS13B-related disorder [RCV004743262]|not provided [RCV001547806] Chr8:99641828..99641829 [GRCh38]
Chr8:100654056..100654057 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.968A>G (p.Gln323Arg) single nucleotide variant Cohen syndrome [RCV001070113] Chr8:99121207 [GRCh38]
Chr8:100133435 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.584C>T (p.Thr195Ile) single nucleotide variant Cohen syndrome [RCV001051847]|Inborn genetic diseases [RCV004678916] Chr8:99111101 [GRCh38]
Chr8:100123329 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5111A>G (p.Asn1704Ser) single nucleotide variant Cohen syndrome [RCV001038089] Chr8:99577524 [GRCh38]
Chr8:100589752 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11945G>A (p.Ser3982Asn) single nucleotide variant Cohen syndrome [RCV001068848] Chr8:99875617 [GRCh38]
Chr8:100887845 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln) single nucleotide variant Cohen syndrome [RCV000768132]|Inborn genetic diseases [RCV002332546]|VPS13B-related disorder [RCV003396333] Chr8:99511133 [GRCh38]
Chr8:100523361 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg) single nucleotide variant Cohen syndrome [RCV000768134]|VPS13B-related disorder [RCV004742634]|not specified [RCV001816824] Chr8:99875557 [GRCh38]
Chr8:100887785 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala) single nucleotide variant Cohen syndrome [RCV001048520] Chr8:99868412 [GRCh38]
Chr8:100880640 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn) single nucleotide variant Cohen syndrome [RCV001050344]|VPS13B-related disorder [RCV004743264] Chr8:99870839 [GRCh38]
Chr8:100883067 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.621C>G (p.Asp207Glu) single nucleotide variant Cohen syndrome [RCV001038231] Chr8:99111138 [GRCh38]
Chr8:100123366 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2243A>G (p.Asp748Gly) single nucleotide variant Cohen syndrome [RCV001039744] Chr8:99170073 [GRCh38]
Chr8:100182301 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) single nucleotide variant Cohen syndrome [RCV001052519]|Inborn genetic diseases [RCV004963046]|VPS13B-related disorder [RCV003393816]|not provided [RCV001819771] Chr8:99778891 [GRCh38]
Chr8:100791119 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=) single nucleotide variant Cohen syndrome [RCV001060491] Chr8:99121376 [GRCh38]
Chr8:100133604 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.3836G>A (p.Cys1279Tyr) single nucleotide variant Cohen syndrome [RCV001060551] Chr8:99481768 [GRCh38]
Chr8:100493996 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2516-3T>A single nucleotide variant Cohen syndrome [RCV001048803]|Inborn genetic diseases [RCV002429627]|VPS13B-related disorder [RCV003413845] Chr8:99274195 [GRCh38]
Chr8:100286423 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) single nucleotide variant Cohen syndrome [RCV001048804]|Inborn genetic diseases [RCV002348387]|VPS13B-related disorder [RCV003396661]|not provided [RCV003227901] Chr8:99103097 [GRCh38]
Chr8:100115325 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7259A>G (p.Glu2420Gly) single nucleotide variant Cohen syndrome [RCV001048897] Chr8:99776786 [GRCh38]
Chr8:100789014 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) single nucleotide variant Cohen syndrome [RCV001052139]|Inborn genetic diseases [RCV002327308]|VPS13B-related disorder [RCV003963012]|not provided [RCV001550931]|not specified [RCV001819770] Chr8:99871566 [GRCh38]
Chr8:100883794 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp) single nucleotide variant Cohen syndrome [RCV001036529]|Inborn genetic diseases [RCV002551360]|not provided [RCV002511019] Chr8:99720519 [GRCh38]
Chr8:100732747 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser) single nucleotide variant Cohen syndrome [RCV000768131] Chr8:99038435 [GRCh38]
Chr8:100050663 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99384188)_(99511532_?)del deletion Cohen syndrome [RCV000817950] Chr8:99384188..99511532 [GRCh38]
Chr8:100396416..100523760 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5221-5T>C single nucleotide variant Cohen syndrome [RCV001275327] Chr8:99641806 [GRCh38]
Chr8:100654034 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) single nucleotide variant Cohen syndrome [RCV000873489]|Inborn genetic diseases [RCV002332834]|VPS13B-related disorder [RCV003975453]|not provided [RCV004707445] Chr8:99511119 [GRCh38]
Chr8:100523347 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3213T>C (p.Leu1071=) single nucleotide variant Cohen syndrome [RCV001402442] Chr8:99442403 [GRCh38]
Chr8:100454631 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=) single nucleotide variant Cohen syndrome [RCV000873960] Chr8:99642386 [GRCh38]
Chr8:100654614 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3645G>A (p.Glu1215=) single nucleotide variant Cohen syndrome [RCV001476529] Chr8:99467613 [GRCh38]
Chr8:100479841 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7063T>C (p.Leu2355=) single nucleotide variant Cohen syndrome [RCV001418959] Chr8:99766786 [GRCh38]
Chr8:100779014 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9609T>C (p.Cys3203=) single nucleotide variant Cohen syndrome [RCV000977440] Chr8:99832647 [GRCh38]
Chr8:100844875 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11216-6T>C single nucleotide variant Cohen syndrome [RCV000873991]|VPS13B-related disorder [RCV003920432] Chr8:99868283 [GRCh38]
Chr8:100880511 [GRCh37]
Chr8:8q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.10868-8C>T single nucleotide variant Cohen syndrome [RCV001496333] Chr8:99859296 [GRCh38]
Chr8:100871524 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.345C>T (p.Ser115=) single nucleotide variant Cohen syndrome [RCV000937899] Chr8:99096365 [GRCh38]
Chr8:100108593 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11022G>A (p.Ser3674=) single nucleotide variant Cohen syndrome [RCV000918354]|VPS13B-related disorder [RCV003923255] Chr8:99859458 [GRCh38]
Chr8:100871686 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+7_11495+8del deletion Cohen syndrome [RCV001479593] Chr8:99870894..99870895 [GRCh38]
Chr8:100883122..100883123 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6954A>G (p.Glu2318=) single nucleotide variant Cohen syndrome [RCV001478693] Chr8:99720951 [GRCh38]
Chr8:100733179 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=) single nucleotide variant Cohen syndrome [RCV000944898]|VPS13B-related disorder [RCV004743217] Chr8:99784428 [GRCh38]
Chr8:100796656 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.999A>G (p.Leu333=) single nucleotide variant Cohen syndrome [RCV001419411] Chr8:99121238 [GRCh38]
Chr8:100133466 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1293T>A (p.Thr431=) single nucleotide variant Cohen syndrome [RCV000876502]|VPS13B-related disorder [RCV003967933] Chr8:99134718 [GRCh38]
Chr8:100146946 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2886G>A (p.Thr962=) single nucleotide variant Cohen syndrome [RCV000871906] Chr8:99384269 [GRCh38]
Chr8:100396497 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2685T>A (p.Leu895=) single nucleotide variant Cohen syndrome [RCV000981607] Chr8:99275115 [GRCh38]
Chr8:100287343 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) single nucleotide variant Cohen syndrome [RCV000877881]|Inborn genetic diseases [RCV002372499]|VPS13B-related disorder [RCV003938382]|not provided [RCV001557440] Chr8:99115822 [GRCh38]
Chr8:100128050 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1209C>T (p.Leu403=) single nucleotide variant Cohen syndrome [RCV000872221]|VPS13B-related disorder [RCV003908281] Chr8:99134634 [GRCh38]
Chr8:100146862 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) single nucleotide variant Cohen syndrome [RCV001160561] Chr8:99820086 [GRCh38]
Chr8:100832314 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=) single nucleotide variant Cohen syndrome [RCV001832120] Chr8:99875645 [GRCh38]
Chr8:100887873 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10650C>T (p.His3550=) single nucleotide variant Cohen syndrome [RCV000960666] Chr8:99854039 [GRCh38]
Chr8:100866267 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=) single nucleotide variant Cohen syndrome [RCV001275676]|VPS13B-related disorder [RCV004742667] Chr8:99823946 [GRCh38]
Chr8:100836174 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=) single nucleotide variant Cohen syndrome [RCV000949187]|VPS13B-related disorder [RCV003895755] Chr8:99809398 [GRCh38]
Chr8:100821626 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2209-4T>G single nucleotide variant Cohen syndrome [RCV000946401]|Inborn genetic diseases [RCV002547184] Chr8:99170035 [GRCh38]
Chr8:100182263 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=) single nucleotide variant Cohen syndrome [RCV000916613]|VPS13B-related disorder [RCV003933058] Chr8:99778920 [GRCh38]
Chr8:100791148 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11392+8G>A single nucleotide variant Cohen syndrome [RCV000876011]|VPS13B-related disorder [RCV003975481]|not provided [RCV001702059] Chr8:99868473 [GRCh38]
Chr8:100880701 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.6885G>A (p.Gly2295=) single nucleotide variant Cohen syndrome [RCV001495403] Chr8:99720882 [GRCh38]
Chr8:100733110 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10527A>G (p.Glu3509=) single nucleotide variant Cohen syndrome [RCV000945140]|Inborn genetic diseases [RCV002409248] Chr8:99853916 [GRCh38]
Chr8:100866144 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-10C>T single nucleotide variant Cohen syndrome [RCV001486137] Chr8:99501677 [GRCh38]
Chr8:100513905 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=) single nucleotide variant Cohen syndrome [RCV000928969] Chr8:99832611 [GRCh38]
Chr8:100844839 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10926C>A (p.Ile3642=) single nucleotide variant Cohen syndrome [RCV000929047]|VPS13B-related disorder [RCV003895650] Chr8:99859362 [GRCh38]
Chr8:100871590 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) single nucleotide variant Cohen syndrome [RCV000778845]|not provided [RCV001091697] Chr8:99853934 [GRCh38]
Chr8:100866162 [GRCh37]
Chr8:8q22.2		 pathogenic|uncertain significance
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) single nucleotide variant Cohen syndrome [RCV000820837]|VPS13B-related disorder [RCV004742652] Chr8:99819955 [GRCh38]
Chr8:100832183 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11218G>A (p.Ala3740Thr) single nucleotide variant Cohen syndrome [RCV000822753] Chr8:99868291 [GRCh38]
Chr8:100880519 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9220G>A (p.Gly3074Ser) single nucleotide variant Cohen syndrome [RCV000823035] Chr8:99823868 [GRCh38]
Chr8:100836096 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2687A>G (p.Gln896Arg) single nucleotide variant Cohen syndrome [RCV000814217]|VPS13B-related disorder [RCV004742646] Chr8:99275117 [GRCh38]
Chr8:100287345 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11874A>G (p.Ala3958=) single nucleotide variant Cohen syndrome [RCV001469801] Chr8:99875546 [GRCh38]
Chr8:100887774 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) single nucleotide variant Cohen syndrome [RCV000799569]|VPS13B-related disorder [RCV003396395]|not provided [RCV002222637] Chr8:99720400 [GRCh38]
Chr8:100732628 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5701A>G (p.Arg1901Gly) single nucleotide variant Cohen syndrome [RCV000798485] Chr8:99642291 [GRCh38]
Chr8:100654519 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu) single nucleotide variant Cohen syndrome [RCV000816145]|Inborn genetic diseases [RCV003279100] Chr8:99556545 [GRCh38]
Chr8:100568773 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu) single nucleotide variant Cohen syndrome [RCV000817756]|Inborn genetic diseases [RCV002372316]|VPS13B-related disorder [RCV003413648] Chr8:99819429 [GRCh38]
Chr8:100831657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99556430)_(99577653_?)del deletion Cohen syndrome [RCV000793479] Chr8:99556430..99577653 [GRCh38]
Chr8:100568658..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99102933)_(99209688_?)del deletion Cohen syndrome [RCV000823259] Chr8:99102933..99209688 [GRCh38]
Chr8:100115161..100221916 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5206A>G (p.Asn1736Asp) single nucleotide variant Cohen syndrome [RCV000805020] Chr8:99577619 [GRCh38]
Chr8:100589847 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6437C>T (p.Ala2146Val) single nucleotide variant Cohen syndrome [RCV000823774]|VPS13B-related disorder [RCV003392628] Chr8:99699915 [GRCh38]
Chr8:100712143 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly) single nucleotide variant Cohen syndrome [RCV000794661]|VPS13B-related disorder [RCV004742638] Chr8:99391615 [GRCh38]
Chr8:100403843 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4394A>T (p.His1465Leu) single nucleotide variant Cohen syndrome [RCV000811376] Chr8:99511273 [GRCh38]
Chr8:100523501 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.236T>C (p.Val79Ala) single nucleotide variant Cohen syndrome [RCV000824463] Chr8:99038511 [GRCh38]
Chr8:100050739 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.99776774G>A single nucleotide variant Cohen syndrome [RCV000824895]   likely pathogenic
NM_152564.5(VPS13B):c.2495A>G (p.Asn832Ser) single nucleotide variant Cohen syndrome [RCV000824547] Chr8:99193037 [GRCh38]
Chr8:100205265 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=) single nucleotide variant Cohen syndrome [RCV000871444] Chr8:99556594 [GRCh38]
Chr8:100568822 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs) microsatellite Cohen syndrome [RCV000816694] Chr8:99699621..99699622 [GRCh38]
Chr8:100711849..100711850 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.232C>A (p.Pro78Thr) single nucleotide variant Cohen syndrome [RCV000805436] Chr8:99038507 [GRCh38]
Chr8:100050735 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser) single nucleotide variant Cohen syndrome [RCV000801916]|Inborn genetic diseases [RCV003243314] Chr8:99156568 [GRCh38]
Chr8:100168796 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr) single nucleotide variant Cohen syndrome [RCV000821965] Chr8:99143096 [GRCh38]
Chr8:100155324 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-2_9331-1del deletion Cohen syndrome [RCV000988102] Chr8:99832367..99832368 [GRCh38]
Chr8:100844595..100844596 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser) single nucleotide variant Cohen syndrome [RCV000800390] Chr8:99859414 [GRCh38]
Chr8:100871642 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) single nucleotide variant Cohen syndrome [RCV000808268]|VPS13B-related disorder [RCV003411785]|not provided [RCV001577950] Chr8:99136691 [GRCh38]
Chr8:100148919 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99661334)_(99661511_?)del deletion Cohen syndrome [RCV000807255] Chr8:99661334..99661511 [GRCh38]
Chr8:100673562..100673739 [GRCh37]
Chr8:8q22.2		 pathogenic|uncertain significance
NM_152564.5(VPS13B):c.6865+1G>T single nucleotide variant Cohen syndrome [RCV000798963] Chr8:99720553 [GRCh38]
Chr8:100732781 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=) single nucleotide variant Cohen syndrome [RCV000958990]|VPS13B-related disorder [RCV003970803]|not specified [RCV001664574] Chr8:99501689 [GRCh38]
Chr8:100513917 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.762+2T>C single nucleotide variant Cohen syndrome [RCV000795917] Chr8:99111281 [GRCh38]
Chr8:100123509 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4801C>G (p.Gln1601Glu) single nucleotide variant Cohen syndrome [RCV000795972] Chr8:99556505 [GRCh38]
Chr8:100568733 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs) deletion Cohen syndrome [RCV000815525] Chr8:99818508 [GRCh38]
Chr8:100830736 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2518G>A (p.Val840Met) single nucleotide variant Cohen syndrome [RCV000799131]|VPS13B-related disorder [RCV004742641] Chr8:99274200 [GRCh38]
Chr8:100286428 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7472T>G (p.Met2491Arg) single nucleotide variant Cohen syndrome [RCV000804268] Chr8:99778724 [GRCh38]
Chr8:100790952 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3839G>T (p.Ser1280Ile) single nucleotide variant Cohen syndrome [RCV000804282] Chr8:99481771 [GRCh38]
Chr8:100493999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3446-382_3463del deletion Cohen syndrome [RCV000792458] Chr8:99467026..99467425 [GRCh38]
Chr8:100479254..100479653 [GRCh37]
Chr8:8q22.2		 likely pathogenic
GRCh37/hg19 8q22.2(chr8:100356422-100777020)x1 copy number loss not provided [RCV000847633] Chr8:100356422..100777020 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11044+6G>A single nucleotide variant Cohen syndrome [RCV000803360]|VPS13B-related disorder [RCV003947992] Chr8:99859486 [GRCh38]
Chr8:100871714 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.6082G>C (p.Ala2028Pro) single nucleotide variant Cohen syndrome [RCV000793696] Chr8:99699560 [GRCh38]
Chr8:100711788 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8426C>G (p.Ser2809Cys) single nucleotide variant Cohen syndrome [RCV000820023] Chr8:99818515 [GRCh38]
Chr8:100830743 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99681689-100173606)x3 copy number gain not provided [RCV000849134] Chr8:99681689..100173606 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99501354-100350153)x3 copy number gain not provided [RCV000849911] Chr8:99501354..100350153 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100032341-100088337)x1 copy number loss not provided [RCV000849913] Chr8:100032341..100088337 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11044+5C>T single nucleotide variant Cohen syndrome [RCV000813050]|Inborn genetic diseases [RCV002453843]|not provided [RCV002298782] Chr8:99859485 [GRCh38]
Chr8:100871713 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.11:g.(?_99274188)_(99275264_?)del deletion Cohen syndrome [RCV000822544] Chr8:99274188..99275264 [GRCh38]
Chr8:100286416..100287492 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) single nucleotide variant Cohen syndrome [RCV000814125]|Inborn genetic diseases [RCV002433968]|VPS13B-related disorder [RCV003396428] Chr8:99861901 [GRCh38]
Chr8:100874129 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5075A>G (p.Glu1692Gly) single nucleotide variant Cohen syndrome [RCV000792179] Chr8:99575783 [GRCh38]
Chr8:100588011 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr) single nucleotide variant Cohen syndrome [RCV000818784]|Inborn genetic diseases [RCV004686618]|not provided [RCV002221586] Chr8:99147873 [GRCh38]
Chr8:100160101 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4711C>T (p.Leu1571Phe) single nucleotide variant Cohen syndrome [RCV000809134] Chr8:99520976 [GRCh38]
Chr8:100533204 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2677C>A (p.Pro893Thr) single nucleotide variant Cohen syndrome [RCV000822181] Chr8:99275107 [GRCh38]
Chr8:100287335 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4310G>A (p.Arg1437His) single nucleotide variant Cohen syndrome [RCV000811545] Chr8:99511189 [GRCh38]
Chr8:100523417 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5675C>T (p.Ser1892Phe) single nucleotide variant Cohen syndrome [RCV000802747] Chr8:99642265 [GRCh38]
Chr8:100654493 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5012G>A (p.Arg1671Gln) single nucleotide variant Cohen syndrome [RCV000819187]|VPS13B-related disorder [RCV004742650] Chr8:99575720 [GRCh38]
Chr8:100587948 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser) single nucleotide variant Cohen syndrome [RCV001275856]|not provided [RCV000991842] Chr8:99809474 [GRCh38]
Chr8:100821702 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.347C>G (p.Thr116Arg) single nucleotide variant Cohen syndrome [RCV001066241]|Inborn genetic diseases [RCV004030601] Chr8:99096367 [GRCh38]
Chr8:100108595 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9775A>C (p.Ile3259Leu) single nucleotide variant Cohen syndrome [RCV001066260] Chr8:99835571 [GRCh38]
Chr8:100847799 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*924A>C single nucleotide variant Cohen syndrome [RCV001164429] Chr8:99876590 [GRCh38]
Chr8:100888818 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.(?_99391537)_(99521030_?)del deletion Cohen syndrome [RCV000805284] Chr8:99391537..99521030 [GRCh38]
Chr8:100403765..100533258 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11146C>T (p.Arg3716Trp) single nucleotide variant Cohen syndrome [RCV000811695]|VPS13B-related disorder [RCV004742645] Chr8:99861877 [GRCh38]
Chr8:100874105 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.773T>C (p.Leu258Ser) single nucleotide variant Cohen syndrome [RCV001045329]|VPS13B-related disorder [RCV004743259] Chr8:99115710 [GRCh38]
Chr8:100127938 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99170039)_(99170163_?)del deletion Cohen syndrome [RCV001031989] Chr8:100182267..100182391 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7718T>C (p.Phe2573Ser) single nucleotide variant Cohen syndrome [RCV001066834] Chr8:99778970 [GRCh38]
Chr8:100791198 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr) single nucleotide variant Cohen syndrome [RCV001045142]|not provided [RCV002223973] Chr8:99136681 [GRCh38]
Chr8:100148909 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) single nucleotide variant Cohen syndrome [RCV000795757]|Inborn genetic diseases [RCV003279070]|VPS13B-related disorder [RCV003938164]|not provided [RCV003236844] Chr8:99170112 [GRCh38]
Chr8:100182340 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99384188)_(99721067_?)del deletion Cohen syndrome [RCV004583205] Chr8:99384188..99721067 [GRCh38]
Chr8:100396416..100733295 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs) duplication Cohen syndrome [RCV000790905] Chr8:99870801..99870802 [GRCh38]
Chr8:100883029..100883030 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val) single nucleotide variant Cohen syndrome [RCV001164108]|VPS13B-related disorder [RCV003918749] Chr8:99809492 [GRCh38]
Chr8:100821720 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer) deletion Cohen syndrome [RCV000809091] Chr8:99577583 [GRCh38]
Chr8:100589811 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val) single nucleotide variant Cohen syndrome [RCV001220473]|not provided [RCV001091694] Chr8:99556467 [GRCh38]
Chr8:100568695 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val) single nucleotide variant Cohen syndrome [RCV000795987]|VPS13B-related disorder [RCV003955509] Chr8:99699525 [GRCh38]
Chr8:100711753 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile) single nucleotide variant Cohen syndrome [RCV000798788]|VPS13B-related disorder [RCV003413598] Chr8:99556580 [GRCh38]
Chr8:100568808 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2609C>T (p.Ser870Phe) single nucleotide variant Cohen syndrome [RCV000821704] Chr8:99274291 [GRCh38]
Chr8:100286519 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10540T>C (p.Tyr3514His) single nucleotide variant Cohen syndrome [RCV000794197] Chr8:99853929 [GRCh38]
Chr8:100866157 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.572del (p.Asp191fs) deletion Cohen syndrome [RCV000796437] Chr8:99103112 [GRCh38]
Chr8:100115340 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7951A>G (p.Ile2651Val) single nucleotide variant Cohen syndrome [RCV000805712] Chr8:99809384 [GRCh38]
Chr8:100821612 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4302_4304dup (p.Lys1434dup) duplication Cohen syndrome [RCV000799339] Chr8:99511177..99511178 [GRCh38]
Chr8:100523405..100523406 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) single nucleotide variant Cohen syndrome [RCV000790948] Chr8:99832501 [GRCh38]
Chr8:100844729 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9568G>C (p.Val3190Leu) single nucleotide variant Cohen syndrome [RCV000802866] Chr8:99832606 [GRCh38]
Chr8:100844834 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu) single nucleotide variant Cohen syndrome [RCV000810986]|Inborn genetic diseases [RCV002538083]|VPS13B-related disorder [RCV003396417]|not provided [RCV002275171]|not specified [RCV001816881] Chr8:99819540 [GRCh38]
Chr8:100831768 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs) duplication Cohen syndrome [RCV000799800] Chr8:99642117..99642118 [GRCh38]
Chr8:100654345..100654346 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8075A>C (p.Gln2692Pro) single nucleotide variant Cohen syndrome [RCV000816385] Chr8:99809508 [GRCh38]
Chr8:100821736 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8353G>A (p.Val2785Ile) single nucleotide variant Cohen syndrome [RCV000820031]|VPS13B-related disorder [RCV004742651] Chr8:99817795 [GRCh38]
Chr8:100830023 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) microsatellite Cohen syndrome [RCV000785964] Chr8:99853943..99853946 [GRCh38]
Chr8:100866171..100866174 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9608G>A (p.Cys3203Tyr) single nucleotide variant Cohen syndrome [RCV000797436] Chr8:99832646 [GRCh38]
Chr8:100844874 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs) microsatellite Cohen syndrome [RCV000817509] Chr8:99556578..99556579 [GRCh38]
Chr8:100568806..100568807 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8694A>G (p.Val2898=) single nucleotide variant Cohen syndrome [RCV001488069] Chr8:99819484 [GRCh38]
Chr8:100831712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser) single nucleotide variant Cohen syndrome [RCV000814507]|Inborn genetic diseases [RCV002352430]|VPS13B-related disorder [RCV003411794] Chr8:99111128 [GRCh38]
Chr8:100123356 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser) single nucleotide variant Cohen syndrome [RCV000814530]|Inborn genetic diseases [RCV002537387]|VPS13B-related disorder [RCV004742647]|not provided [RCV004693356] Chr8:99818512 [GRCh38]
Chr8:100830740 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10513C>T (p.Arg3505Trp) single nucleotide variant Cohen syndrome [RCV000814640] Chr8:99853902 [GRCh38]
Chr8:100866130 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5220+8T>C single nucleotide variant Cohen syndrome [RCV000977616]|VPS13B-related disorder [RCV004743237] Chr8:99577641 [GRCh38]
Chr8:100589869 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2988T>A (p.Asp996Glu) single nucleotide variant Cohen syndrome [RCV001067527] Chr8:99391610 [GRCh38]
Chr8:100403838 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) single nucleotide variant Cohen syndrome [RCV001067552]|Inborn genetic diseases [RCV002429725]|VPS13B-related disorder [RCV003396715]|not provided [RCV001507741] Chr8:99115764 [GRCh38]
Chr8:100127992 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99391557)_(99556653_?)del deletion Cohen syndrome [RCV001031993] Chr8:100403785..100568881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99467404)_(99467644_?)del deletion Cohen syndrome [RCV001032524] Chr8:100479632..100479872 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3762G>C (p.Glu1254Asp) single nucleotide variant Cohen syndrome [RCV001065585]|VPS13B-related disorder [RCV004743277] Chr8:99481694 [GRCh38]
Chr8:100493922 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile) single nucleotide variant Cohen syndrome [RCV001065687]|VPS13B-related disorder [RCV003413882] Chr8:99871575 [GRCh38]
Chr8:100883803 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99209582)_(99275264_?)del deletion Cohen syndrome [RCV001032765] Chr8:100221810..100287492 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3020A>C (p.Lys1007Thr) single nucleotide variant Cohen syndrome [RCV001066356] Chr8:99391642 [GRCh38]
Chr8:100403870 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5777T>C (p.Leu1926Pro) single nucleotide variant Cohen syndrome [RCV001044572] Chr8:99642367 [GRCh38]
Chr8:100654595 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2333+5G>A single nucleotide variant Cohen syndrome [RCV001065137] Chr8:99170168 [GRCh38]
Chr8:100182396 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99481579)_(99721067_?)del deletion Cohen syndrome [RCV001032653] Chr8:100493807..100733295 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:100120427-100423020)x1 copy number loss not provided [RCV000849803] Chr8:100120427..100423020 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1972A>T (p.Asn658Tyr) single nucleotide variant Cohen syndrome [RCV002001551] Chr8:99147969 [GRCh38]
Chr8:100160197 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.501C>T (p.Ile167=) single nucleotide variant Cohen syndrome [RCV001402840]|VPS13B-related disorder [RCV004743190] Chr8:99103041 [GRCh38]
Chr8:100115269 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) single nucleotide variant Cohen syndrome [RCV000988101]|not specified [RCV004526055] Chr8:99577633 [GRCh38]
Chr8:100589861 [GRCh37]
Chr8:8q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.8792+1G>T single nucleotide variant Cohen syndrome [RCV002001736] Chr8:99819583 [GRCh38]
Chr8:100831811 [GRCh37]
Chr8:8q22.2		 likely pathogenic
GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3 copy number gain not provided [RCV001006126] Chr8:100791383..101278033 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100091912-100198780)x1 copy number loss not provided [RCV000848131] Chr8:100091912..100198780 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:99991771-100220890)x1 copy number loss not provided [RCV000849587] Chr8:99991771..100220890 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.*304C>T single nucleotide variant Cohen syndrome [RCV001162378] Chr8:99875970 [GRCh38]
Chr8:100888198 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*438C>T single nucleotide variant Cohen syndrome [RCV001162379] Chr8:99876104 [GRCh38]
Chr8:100888332 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) single nucleotide variant Cohen syndrome [RCV001163715]|VPS13B-related disorder [RCV004743315]|not provided [RCV001354435] Chr8:99143091 [GRCh38]
Chr8:100155319 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe) single nucleotide variant Cohen syndrome [RCV001065845]|Inborn genetic diseases [RCV002429717]|VPS13B-related disorder [RCV003906172] Chr8:99817546 [GRCh38]
Chr8:100829774 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*655G>C single nucleotide variant Cohen syndrome [RCV001162381] Chr8:99876321 [GRCh38]
Chr8:100888549 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.*665T>C single nucleotide variant Cohen syndrome [RCV001162382] Chr8:99876331 [GRCh38]
Chr8:100888559 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8797G>A (p.Glu2933Lys) single nucleotide variant Cohen syndrome [RCV001246582] Chr8:99819925 [GRCh38]
Chr8:100832153 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe) single nucleotide variant Cohen syndrome [RCV001162174] Chr8:99823854 [GRCh38]
Chr8:100836082 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) single nucleotide variant Cohen syndrome [RCV001248485]|Inborn genetic diseases [RCV004967928]|VPS13B-related disorder [RCV003405455] Chr8:99861875 [GRCh38]
Chr8:100874103 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.1294A>G (p.Thr432Ala) single nucleotide variant Cohen syndrome [RCV001229150] Chr8:99134719 [GRCh38]
Chr8:100146947 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) microsatellite Cohen syndrome [RCV001276180]|VPS13B-related disorder [RCV004743249]|not provided [RCV001009293] Chr8:99871460..99871461 [GRCh38]
Chr8:100883688..100883689 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr) single nucleotide variant Cohen syndrome [RCV001246495]|VPS13B-related disorder [RCV003399015] Chr8:99521000 [GRCh38]
Chr8:100533228 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala) single nucleotide variant Cohen syndrome [RCV001202553]|Inborn genetic diseases [RCV004963177] Chr8:99038424 [GRCh38]
Chr8:100050652 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs) duplication Cohen syndrome [RCV001067905] Chr8:99875509..99875510 [GRCh38]
Chr8:100887737..100887738 [GRCh37]
Chr8:8q22.2		 pathogenic|uncertain significance
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter) single nucleotide variant Cohen syndrome [RCV001213996] Chr8:99103087 [GRCh38]
Chr8:100115315 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs) insertion Cohen syndrome [RCV001213997] Chr8:99274209..99274210 [GRCh38]
Chr8:100286437..100286438 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys) single nucleotide variant Cohen syndrome [RCV001161901]|VPS13B-related disorder [RCV003928760] Chr8:99115794 [GRCh38]
Chr8:100128022 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7128C>A (p.Ser2376Arg) single nucleotide variant Cohen syndrome [RCV001212121] Chr8:99766851 [GRCh38]
Chr8:100779079 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter) single nucleotide variant Retinitis pigmentosa [RCV001199599] Chr8:99809470 [GRCh38]
Chr8:100821698 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3768G>A (p.Met1256Ile) single nucleotide variant Cohen syndrome [RCV001233089] Chr8:99481700 [GRCh38]
Chr8:100493928 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11845A>G (p.Met3949Val) single nucleotide variant Cohen syndrome [RCV001220541] Chr8:99875517 [GRCh38]
Chr8:100887745 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6657+2T>C single nucleotide variant Cohen syndrome [RCV001230895] Chr8:99717375 [GRCh38]
Chr8:100729603 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs) deletion Cohen syndrome [RCV001230984] Chr8:99481632 [GRCh38]
Chr8:100493860 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5120C>T (p.Thr1707Ile) single nucleotide variant Cohen syndrome [RCV001240157]|VPS13B-related disorder [RCV003898235] Chr8:99577533 [GRCh38]
Chr8:100589761 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) indel Cohen syndrome [RCV001247574]|VPS13B-related disorder [RCV004743363]|not provided [RCV003433092] Chr8:99192983..99192992 [GRCh38]
Chr8:100205211..100205220 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys) single nucleotide variant Cohen syndrome [RCV001242959]|VPS13B-related disorder [RCV003973161] Chr8:99720902 [GRCh38]
Chr8:100733130 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter) single nucleotide variant Cohen syndrome [RCV001213869] Chr8:99511448 [GRCh38]
Chr8:100523676 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs) deletion Cohen syndrome [RCV001208465] Chr8:99502841..99502844 [GRCh38]
Chr8:100515069..100515072 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) single nucleotide variant Cohen syndrome [RCV001239379]|Inborn genetic diseases [RCV002563940]|not provided [RCV003127716] Chr8:99699740 [GRCh38]
Chr8:100711968 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3354G>T (p.Leu1118Phe) single nucleotide variant Cohen syndrome [RCV001213852] Chr8:99442544 [GRCh38]
Chr8:100454772 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) single nucleotide variant Cohen syndrome [RCV001202981]|Inborn genetic diseases [RCV003346358]|VPS13B-related disorder [RCV003405386]|not specified [RCV001819892] Chr8:99642079 [GRCh38]
Chr8:100654307 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) single nucleotide variant Cohen syndrome [RCV001238925]|Inborn genetic diseases [RCV002430021]|VPS13B-related disorder [RCV003918794] Chr8:99121326 [GRCh38]
Chr8:100133554 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2334-3C>T single nucleotide variant Cohen syndrome [RCV001238982] Chr8:99192873 [GRCh38]
Chr8:100205101 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) single nucleotide variant Cohen syndrome [RCV001240743]|Inborn genetic diseases [RCV004963278]|VPS13B-related disorder [RCV003414045]|not provided [RCV002261318] Chr8:99577543 [GRCh38]
Chr8:100589771 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr) single nucleotide variant Cohen syndrome [RCV001203383]|Inborn genetic diseases [RCV003373024]|VPS13B-related disorder [RCV003398926] Chr8:99819953 [GRCh38]
Chr8:100832181 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7156A>G (p.Ile2386Val) single nucleotide variant Cohen syndrome [RCV001239534]|Inborn genetic diseases [RCV003263879] Chr8:99766879 [GRCh38]
Chr8:100779107 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4946_4947delinsAA (p.Ser1649Lys) indel Cohen syndrome [RCV001237396] Chr8:99556650..99556651 [GRCh38]
Chr8:100568878..100568879 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8011G>A (p.Gly2671Arg) single nucleotide variant Cohen syndrome [RCV001239178]|VPS13B-related disorder [RCV004743348] Chr8:99809444 [GRCh38]
Chr8:100821672 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4589G>A (p.Arg1530Lys) single nucleotide variant Cohen syndrome [RCV001205353] Chr8:99511468 [GRCh38]
Chr8:100523696 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5629A>G (p.Arg1877Gly) single nucleotide variant Cohen syndrome [RCV001208973] Chr8:99642219 [GRCh38]
Chr8:100654447 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala) single nucleotide variant Cohen syndrome [RCV001223025]|Inborn genetic diseases [RCV002418769] Chr8:99156570 [GRCh38]
Chr8:100168798 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys) single nucleotide variant Cohen syndrome [RCV001239325]|Inborn genetic diseases [RCV002322141]|VPS13B-related disorder [RCV004743349] Chr8:99431542 [GRCh38]
Chr8:100443770 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser) single nucleotide variant Cohen syndrome [RCV001224786]|Inborn genetic diseases [RCV002563664]|VPS13B-related disorder [RCV004743335] Chr8:99275254 [GRCh38]
Chr8:100287482 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6023T>A (p.Ile2008Asn) single nucleotide variant Cohen syndrome [RCV001217643] Chr8:99661468 [GRCh38]
Chr8:100673696 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3870+5G>A single nucleotide variant Cohen syndrome [RCV001223093] Chr8:99481807 [GRCh38]
Chr8:100494035 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6602G>T (p.Gly2201Val) single nucleotide variant Cohen syndrome [RCV001241180] Chr8:99717318 [GRCh38]
Chr8:100729546 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4045G>T (p.Val1349Phe) single nucleotide variant Cohen syndrome [RCV001237500]|Inborn genetic diseases [RCV004963267] Chr8:99502838 [GRCh38]
Chr8:100515066 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3799A>C (p.Ser1267Arg) single nucleotide variant Cohen syndrome [RCV001234839] Chr8:99481731 [GRCh38]
Chr8:100493959 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=) single nucleotide variant Cohen syndrome [RCV001217832]|VPS13B-related disorder [RCV004743331] Chr8:99861933 [GRCh38]
Chr8:100874161 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.8405T>C (p.Val2802Ala) single nucleotide variant Cohen syndrome [RCV001223522] Chr8:99818494 [GRCh38]
Chr8:100830722 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5244A>C (p.Lys1748Asn) single nucleotide variant Cohen syndrome [RCV001227012] Chr8:99641834 [GRCh38]
Chr8:100654062 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2013+2341_2166del deletion Cohen syndrome [RCV001223740] Chr8:99150351..99156701 [GRCh38]
Chr8:100162579..100168929 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6652C>A (p.Leu2218Ile) single nucleotide variant Cohen syndrome [RCV001241396] Chr8:99717368 [GRCh38]
Chr8:100729596 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9749C>T (p.Pro3250Leu) single nucleotide variant Cohen syndrome [RCV001221439]|VPS13B-related disorder [RCV004743332] Chr8:99835545 [GRCh38]
Chr8:100847773 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln) single nucleotide variant Cohen syndrome [RCV001221227]|Inborn genetic diseases [RCV002563015] Chr8:99861830 [GRCh38]
Chr8:100874058 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala) single nucleotide variant Cohen syndrome [RCV001218222]|Inborn genetic diseases [RCV002562446] Chr8:99143094 [GRCh38]
Chr8:100155322 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1604del (p.Ala535fs) deletion Cohen syndrome [RCV001224172] Chr8:99136705 [GRCh38]
Chr8:100148933 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2338A>C (p.Lys780Gln) single nucleotide variant Cohen syndrome [RCV001223261] Chr8:99192880 [GRCh38]
Chr8:100205108 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val) single nucleotide variant Cohen syndrome [RCV001241628] Chr8:99115733 [GRCh38]
Chr8:100127961 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu) single nucleotide variant Cohen syndrome [RCV001242571]|Inborn genetic diseases [RCV002322152] Chr8:99442522 [GRCh38]
Chr8:100454750 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10958C>T (p.Pro3653Leu) single nucleotide variant Cohen syndrome [RCV001242646] Chr8:99859394 [GRCh38]
Chr8:100871622 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10327del (p.Val3443fs) deletion Cohen syndrome [RCV001235561] Chr8:99853716 [GRCh38]
Chr8:100865944 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter) single nucleotide variant Cohen syndrome [RCV001235610] Chr8:99115792 [GRCh38]
Chr8:100128020 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3089G>A (p.Arg1030His) single nucleotide variant Cohen syndrome [RCV001240799]|VPS13B-related disorder [RCV004743353] Chr8:99431543 [GRCh38]
Chr8:100443771 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8097+1G>A single nucleotide variant Cohen syndrome [RCV001223534] Chr8:99809531 [GRCh38]
Chr8:100821759 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) single nucleotide variant Cohen syndrome [RCV001241750]|Inborn genetic diseases [RCV004034692]|VPS13B-related disorder [RCV003414049] Chr8:99642118 [GRCh38]
Chr8:100654346 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.762+5G>T single nucleotide variant Cohen syndrome [RCV001242182] Chr8:99111284 [GRCh38]
Chr8:100123512 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr) single nucleotide variant Cohen syndrome [RCV001203954]|Inborn genetic diseases [RCV002418676] Chr8:99854115 [GRCh38]
Chr8:100866343 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3067A>T (p.Thr1023Ser) single nucleotide variant Cohen syndrome [RCV001221652] Chr8:99391689 [GRCh38]
Chr8:100403917 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) single nucleotide variant Cohen syndrome [RCV001247206]|VPS13B-related disorder [RCV004743362] Chr8:99121432 [GRCh38]
Chr8:100133660 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8q22.2(chr8:100479441-100545102) copy number loss Cohen syndrome [RCV001195122] Chr8:100479441..100545102 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:100108619-100160324) copy number loss Cohen syndrome [RCV001195120] Chr8:100108619..100160324 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:100067471-100156392) copy number gain Cohen syndrome [RCV001195123] Chr8:100067471..100156392 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9748C>G (p.Pro3250Ala) single nucleotide variant Cohen syndrome [RCV001241100] Chr8:99835544 [GRCh38]
Chr8:100847772 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr) single nucleotide variant Cohen syndrome [RCV001241132]|Inborn genetic diseases [RCV002430026] Chr8:99817544 [GRCh38]
Chr8:100829772 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) single nucleotide variant Cohen syndrome [RCV001242279]|Inborn genetic diseases [RCV003346407]|VPS13B-related disorder [RCV003973160]|not provided [RCV003481020] Chr8:99870827 [GRCh38]
Chr8:100883055 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6919G>A (p.Asp2307Asn) single nucleotide variant Cohen syndrome [RCV001212836] Chr8:99720916 [GRCh38]
Chr8:100733144 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs) deletion Cohen syndrome [RCV001215317] Chr8:99766914..99766915 [GRCh38]
Chr8:100779142..100779143 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9528C>G (p.Ser3176Arg) single nucleotide variant Cohen syndrome [RCV001204404] Chr8:99832566 [GRCh38]
Chr8:100844794 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) single nucleotide variant Cohen syndrome [RCV001247141]|Inborn genetic diseases [RCV004679041]|VPS13B-related disorder [RCV003938578]|not provided [RCV001751502] Chr8:99115858 [GRCh38]
Chr8:100128086 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) single nucleotide variant Cohen syndrome [RCV001226243]|Inborn genetic diseases [RCV002356960]|VPS13B-related disorder [RCV004743336] Chr8:99699789 [GRCh38]
Chr8:100712017 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1531G>A (p.Ala511Thr) single nucleotide variant Cohen syndrome [RCV001213322] Chr8:99135701 [GRCh38]
Chr8:100147929 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4294G>A (p.Val1432Ile) single nucleotide variant Inborn genetic diseases [RCV003271374] Chr8:99511173 [GRCh38]
Chr8:100523401 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100673582-100673719)x1 copy number loss not provided [RCV003312728] Chr8:100673582..100673719 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1079del (p.Asp360fs) deletion Cohen syndrome [RCV000988100] Chr8:99121318 [GRCh38]
Chr8:100133546 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) deletion Cohen syndrome [RCV000988103] Chr8:99832375..99832376 [GRCh38]
Chr8:100844603..100844604 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) single nucleotide variant Cohen syndrome [RCV000991391] Chr8:99556523 [GRCh38]
Chr8:100568751 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) single nucleotide variant Cohen syndrome [RCV001212585]|Inborn genetic diseases [RCV004678997]|VPS13B-related disorder [RCV004743328]|not provided [RCV003480995] Chr8:99823840 [GRCh38]
Chr8:100836068 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu) single nucleotide variant Cohen syndrome [RCV001158997] Chr8:99556566 [GRCh38]
Chr8:100568794 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe) single nucleotide variant Cohen syndrome [RCV001159092] Chr8:99720395 [GRCh38]
Chr8:100732623 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6574A>G (p.Lys2192Glu) single nucleotide variant Cohen syndrome [RCV001247200] Chr8:99717290 [GRCh38]
Chr8:100729518 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln) single nucleotide variant Cohen syndrome [RCV001159202]|VPS13B-related disorder [RCV004743311] Chr8:99819956 [GRCh38]
Chr8:100832184 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8621+4C>T single nucleotide variant Cohen syndrome [RCV001159201]|VPS13B-related disorder [RCV004743310] Chr8:99818892 [GRCh38]
Chr8:100831120 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4132T>G (p.Phe1378Val) single nucleotide variant Cohen syndrome [RCV001247255] Chr8:99502925 [GRCh38]
Chr8:100515153 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10442G>T (p.Cys3481Phe) single nucleotide variant Cohen syndrome [RCV001246420] Chr8:99853831 [GRCh38]
Chr8:100866059 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100168626-100298366) copy number loss Cohen syndrome [RCV001195121] Chr8:100168626..100298366 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:100274176-100477297) copy number loss Cohen syndrome [RCV001195125] Chr8:100274176..100477297 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:100232749-100493790) copy number loss Cohen syndrome [RCV001195126] Chr8:100232749..100493790 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=) single nucleotide variant Cohen syndrome [RCV001160247] Chr8:99467532 [GRCh38]
Chr8:100479760 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) single nucleotide variant Cohen syndrome [RCV001160336]|Inborn genetic diseases [RCV002557367]|VPS13B-related disorder [RCV003973113] Chr8:99575698 [GRCh38]
Chr8:100587926 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) single nucleotide variant Cohen syndrome [RCV001160339]|Inborn genetic diseases [RCV002348583]|VPS13B-related disorder [RCV003938530] Chr8:99641813 [GRCh38]
Chr8:100654041 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) single nucleotide variant Cohen syndrome [RCV001160340]|VPS13B-related disorder [RCV003945880] Chr8:99641874 [GRCh38]
Chr8:100654102 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala) single nucleotide variant Cohen syndrome [RCV001246659]|Inborn genetic diseases [RCV004963300]|VPS13B-related disorder [RCV003405449]|not specified [RCV001819951] Chr8:99720439 [GRCh38]
Chr8:100732667 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.*1571A>G single nucleotide variant Cohen syndrome [RCV001160867] Chr8:99877237 [GRCh38]
Chr8:100889465 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1771G>A (p.Val591Met) single nucleotide variant Cohen syndrome [RCV001046882] Chr8:99143093 [GRCh38]
Chr8:100155321 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8110G>A (p.Gly2704Arg) single nucleotide variant Cohen syndrome [RCV001246758] Chr8:99817552 [GRCh38]
Chr8:100829780 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) deletion Abnormality of the nervous system [RCV001814256]|Cohen syndrome [RCV001827171]|not provided [RCV001008826] Chr8:99720489 [GRCh38]
Chr8:100732717 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys) single nucleotide variant Cohen syndrome [RCV001164205] Chr8:99835578 [GRCh38]
Chr8:100847806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val) single nucleotide variant Cohen syndrome [RCV001210800]|Inborn genetic diseases [RCV002339545] Chr8:99577598 [GRCh38]
Chr8:100589826 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe) single nucleotide variant Cohen syndrome [RCV001247140]|VPS13B-related disorder [RCV003414068]|not provided [RCV001751501] Chr8:99156586 [GRCh38]
Chr8:100168814 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8800C>T (p.Gln2934Ter) single nucleotide variant not provided [RCV003237212] Chr8:99819928 [GRCh38]
Chr8:100832156 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.763-89C>A single nucleotide variant not provided [RCV001549605] Chr8:99115611 [GRCh38]
Chr8:100127839 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+34G>T single nucleotide variant not provided [RCV001550177] Chr8:99275288 [GRCh38]
Chr8:100287516 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4286C>A (p.Thr1429Lys) single nucleotide variant Cohen syndrome [RCV001827496]|not provided [RCV001569017] Chr8:99511165 [GRCh38]
Chr8:100523393 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4042+285C>T single nucleotide variant not provided [RCV001550553] Chr8:99502143 [GRCh38]
Chr8:100514371 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3666+77_3666+158dup duplication not provided [RCV001569220] Chr8:99467709..99467710 [GRCh38]
Chr8:100479937..100479938 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2825-263G>A single nucleotide variant not provided [RCV001570093] Chr8:99383945 [GRCh38]
Chr8:100396173 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1843+293dup duplication not provided [RCV001548529] Chr8:99143447..99143448 [GRCh38]
Chr8:100155675..100155676 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5978T>C (p.Ile1993Thr) single nucleotide variant Inborn genetic diseases [RCV003292194]|VPS13B-related disorder [RCV004741584] Chr8:99661423 [GRCh38]
Chr8:100673651 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11745+164G>A single nucleotide variant not provided [RCV001567598] Chr8:99871861 [GRCh38]
Chr8:100884089 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3666+289A>C single nucleotide variant not provided [RCV001638685] Chr8:99467923 [GRCh38]
Chr8:100480151 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.5077-241A>G single nucleotide variant not provided [RCV001555502] Chr8:99577249 [GRCh38]
Chr8:100589477 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2934+290A>G single nucleotide variant not provided [RCV001615432] Chr8:99384607 [GRCh38]
Chr8:100396835 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.6658-94A>G single nucleotide variant not provided [RCV001659085] Chr8:99720251 [GRCh38]
Chr8:100732479 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3211-152A>G single nucleotide variant not provided [RCV001561157] Chr8:99442249 [GRCh38]
Chr8:100454477 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-190AC[31] microsatellite not provided [RCV001608650] Chr8:99821104..99821105 [GRCh38]
Chr8:100833332..100833333 [GRCh37]
Chr8:8q22.2		 benign
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4 copy number gain Cohen syndrome [RCV001543354] Chr8:99096530..99142877 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2013+61dup duplication not provided [RCV001610846] Chr8:99148054..99148055 [GRCh38]
Chr8:100160282..100160283 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1843+175G>T single nucleotide variant not provided [RCV001637487] Chr8:99143340 [GRCh38]
Chr8:100155568 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9743-47T>G single nucleotide variant not provided [RCV001564815] Chr8:99835492 [GRCh38]
Chr8:100847720 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile) single nucleotide variant Cohen syndrome [RCV003107835]|not provided [RCV001723445] Chr8:99778976 [GRCh38]
Chr8:100791204 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8995-190AC[19] microsatellite not provided [RCV001645903] Chr8:99821104..99821129 [GRCh38]
Chr8:100833332..100833357 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.412+36A>G single nucleotide variant not provided [RCV001577258] Chr8:99096468 [GRCh38]
Chr8:100108696 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2825-252C>T single nucleotide variant not provided [RCV001651773] Chr8:99383956 [GRCh38]
Chr8:100396184 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3083-81C>A single nucleotide variant not provided [RCV001551370] Chr8:99431456 [GRCh38]
Chr8:100443684 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1849A>G (p.Lys617Glu) single nucleotide variant Cohen syndrome [RCV001907738] Chr8:99147846 [GRCh38]
Chr8:100160074 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9535G>T (p.Ala3179Ser) single nucleotide variant Cohen syndrome [RCV001889201] Chr8:99832573 [GRCh38]
Chr8:100844801 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9615-321G>A single nucleotide variant not provided [RCV001565235] Chr8:99834876 [GRCh38]
Chr8:100847104 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3666+152T>C single nucleotide variant not provided [RCV001582195] Chr8:99467786 [GRCh38]
Chr8:100480014 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7779+102G>A single nucleotide variant not provided [RCV001585000] Chr8:99779133 [GRCh38]
Chr8:100791361 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.412+181G>A single nucleotide variant not provided [RCV001559078] Chr8:99096613 [GRCh38]
Chr8:100108841 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9614+204T>C single nucleotide variant not provided [RCV001673508] Chr8:99832856 [GRCh38]
Chr8:100845084 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2824+82_2824+83insA insertion not provided [RCV001541667] Chr8:99275336..99275337 [GRCh38]
Chr8:100287564..100287565 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3330G>T (p.Met1110Ile) single nucleotide variant Cohen syndrome [RCV001578973] Chr8:99442520 [GRCh38]
Chr8:100454748 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=) single nucleotide variant Cohen syndrome [RCV000886491]|VPS13B-related disorder [RCV003910486] Chr8:99778686 [GRCh38]
Chr8:100790914 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=) single nucleotide variant Cohen syndrome [RCV001272469] Chr8:99868317 [GRCh38]
Chr8:100880545 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9546A>G (p.Arg3182=) single nucleotide variant Cohen syndrome [RCV001395873]|VPS13B-related disorder [RCV004743238] Chr8:99832584 [GRCh38]
Chr8:100844812 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6432C>A (p.Val2144=) single nucleotide variant Cohen syndrome [RCV000979888] Chr8:99699910 [GRCh38]
Chr8:100712138 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=) single nucleotide variant Cohen syndrome [RCV000930452] Chr8:99720876 [GRCh38]
Chr8:100733104 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1953A>T (p.Thr651=) single nucleotide variant Cohen syndrome [RCV001494854] Chr8:99147950 [GRCh38]
Chr8:100160178 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5670C>T (p.Val1890=) single nucleotide variant Cohen syndrome [RCV001433709] Chr8:99642260 [GRCh38]
Chr8:100654488 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=) single nucleotide variant Cohen syndrome [RCV000875088] Chr8:99717361 [GRCh38]
Chr8:100729589 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) single nucleotide variant Cohen syndrome [RCV000974755]|Inborn genetic diseases [RCV002409287]|VPS13B-related disorder [RCV004743234]|not provided [RCV003432978] Chr8:99778947 [GRCh38]
Chr8:100791175 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.11019A>T (p.Thr3673=) single nucleotide variant Cohen syndrome [RCV001448860] Chr8:99859455 [GRCh38]
Chr8:100871683 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-7C>T single nucleotide variant Cohen syndrome [RCV000945312]|VPS13B-related disorder [RCV004743219] Chr8:99853444 [GRCh38]
Chr8:100865672 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=) single nucleotide variant Cohen syndrome [RCV000929961]|VPS13B-related disorder [RCV004743208] Chr8:99859416 [GRCh38]
Chr8:100871644 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=) single nucleotide variant Cohen syndrome [RCV000936837] Chr8:99121316 [GRCh38]
Chr8:100133544 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3564G>A (p.Thr1188=) single nucleotide variant Cohen syndrome [RCV001460072]|VPS13B-related disorder [RCV004743239] Chr8:99467532 [GRCh38]
Chr8:100479760 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10548C>A (p.Ile3516=) single nucleotide variant Cohen syndrome [RCV000977998] Chr8:99853937 [GRCh38]
Chr8:100866165 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2651-8C>A single nucleotide variant Cohen syndrome [RCV000928592] Chr8:99275073 [GRCh38]
Chr8:100287301 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-7G>A single nucleotide variant Cohen syndrome [RCV000894810]|VPS13B-related disorder [RCV003958017] Chr8:99859297 [GRCh38]
Chr8:100871525 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10896T>C (p.Leu3632=) single nucleotide variant Cohen syndrome [RCV000933318] Chr8:99859332 [GRCh38]
Chr8:100871560 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3831C>T (p.Ser1277=) single nucleotide variant Cohen syndrome [RCV000931324] Chr8:99481763 [GRCh38]
Chr8:100493991 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8382C>G (p.Ser2794=) single nucleotide variant Cohen syndrome [RCV001416700] Chr8:99818471 [GRCh38]
Chr8:100830699 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=) single nucleotide variant Cohen syndrome [RCV000904163] Chr8:99111189 [GRCh38]
Chr8:100123417 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8787T>C (p.Ser2929=) single nucleotide variant Cohen syndrome [RCV001460071] Chr8:99819577 [GRCh38]
Chr8:100831805 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-9G>A single nucleotide variant Cohen syndrome [RCV000932165]|VPS13B-related disorder [RCV003895667]|not provided [RCV001700509] Chr8:99135006 [GRCh38]
Chr8:100147234 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.510C>T (p.Ser170=) single nucleotide variant Cohen syndrome [RCV000898979] Chr8:99103050 [GRCh38]
Chr8:100115278 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=) single nucleotide variant Cohen syndrome [RCV000873490]|VPS13B-related disorder [RCV003975454]|not provided [RCV004707446] Chr8:99818715 [GRCh38]
Chr8:100830943 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) single nucleotide variant Cohen syndrome [RCV000951180]|VPS13B-related disorder [RCV003933310]|not provided [RCV003432955] Chr8:99835672 [GRCh38]
Chr8:100847900 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.5790G>C (p.Leu1930=) single nucleotide variant Cohen syndrome [RCV001418472] Chr8:99642380 [GRCh38]
Chr8:100654608 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=) single nucleotide variant Cohen syndrome [RCV000906902]|VPS13B-related disorder [RCV004743184] Chr8:99861801 [GRCh38]
Chr8:100874029 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His) single nucleotide variant Cohen syndrome [RCV001247063]|Inborn genetic diseases [RCV003166551]|VPS13B-related disorder [RCV003414067] Chr8:99832376 [GRCh38]
Chr8:100844604 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4633+4T>C single nucleotide variant Cohen syndrome [RCV001210475]|VPS13B-related disorder [RCV004743326]|not specified [RCV004782668] Chr8:99511516 [GRCh38]
Chr8:100523744 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2921G>C (p.Arg974Thr) single nucleotide variant Cohen syndrome [RCV001242074] Chr8:99384304 [GRCh38]
Chr8:100396532 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val) single nucleotide variant Cohen syndrome [RCV001046431]|VPS13B-related disorder [RCV003425892] Chr8:99720976 [GRCh38]
Chr8:100733204 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99111088)_(99170173_?)del deletion Cohen syndrome [RCV001032182] Chr8:100123316..100182401 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4959del (p.His1654fs) deletion Cohen syndrome [RCV001225984] Chr8:99575666 [GRCh38]
Chr8:100587894 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3341T>C (p.Leu1114Pro) single nucleotide variant Cohen syndrome [RCV001226186] Chr8:99442531 [GRCh38]
Chr8:100454759 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11356G>A (p.Gly3786Arg) single nucleotide variant Cohen syndrome [RCV001226193] Chr8:99868429 [GRCh38]
Chr8:100880657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9263A>G (p.Asn3088Ser) single nucleotide variant Cohen syndrome [RCV001244375] Chr8:99823911 [GRCh38]
Chr8:100836139 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6143C>T (p.Ala2048Val) single nucleotide variant Cohen syndrome [RCV001244382] Chr8:99699621 [GRCh38]
Chr8:100711849 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.-30+6C>G single nucleotide variant Cohen syndrome [RCV001158687] Chr8:99013353 [GRCh38]
Chr8:100025581 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) single nucleotide variant Cohen syndrome [RCV001158798]|Inborn genetic diseases [RCV002559524]|VPS13B-related disorder [RCV003908409] Chr8:99156573 [GRCh38]
Chr8:100168801 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6530G>T (p.Arg2177Leu) single nucleotide variant Cohen syndrome [RCV001222496] Chr8:99717246 [GRCh38]
Chr8:100729474 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11666T>C (p.Ile3889Thr) single nucleotide variant Cohen syndrome [RCV001242592] Chr8:99871618 [GRCh38]
Chr8:100883846 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1904A>G (p.Tyr635Cys) single nucleotide variant Cohen syndrome [RCV001242642]|VPS13B-related disorder [RCV003414052] Chr8:99147901 [GRCh38]
Chr8:100160129 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=) single nucleotide variant Cohen syndrome [RCV001158998]|VPS13B-related disorder [RCV004743307] Chr8:99556651 [GRCh38]
Chr8:100568879 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6866-14C>A single nucleotide variant Cohen syndrome [RCV001159093] Chr8:99720849 [GRCh38]
Chr8:100733077 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) single nucleotide variant Cohen syndrome [RCV001159094]|Inborn genetic diseases [RCV003259129]|VPS13B-related disorder [RCV003396777] Chr8:99720887 [GRCh38]
Chr8:100733115 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg) single nucleotide variant Cohen syndrome [RCV001159095]|VPS13B-related disorder [RCV004743309] Chr8:99766874 [GRCh38]
Chr8:100779102 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9943-2A>G single nucleotide variant Cohen syndrome [RCV001239273] Chr8:99848774 [GRCh38]
Chr8:100861002 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5931A>T (p.Glu1977Asp) single nucleotide variant Cohen syndrome [RCV001244763] Chr8:99661376 [GRCh38]
Chr8:100673604 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6833G>A (p.Arg2278Gln) single nucleotide variant Cohen syndrome [RCV001244764]|VPS13B-related disorder [RCV004743359] Chr8:99720520 [GRCh38]
Chr8:100732748 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys) single nucleotide variant Cohen syndrome [RCV001162276] Chr8:99853933 [GRCh38]
Chr8:100866161 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) single nucleotide variant Cohen syndrome [RCV001163931]|VPS13B-related disorder [RCV003973116] Chr8:99511331 [GRCh38]
Chr8:100523559 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.4746-15T>C single nucleotide variant Cohen syndrome [RCV001163932]|not provided [RCV003433066] Chr8:99556435 [GRCh38]
Chr8:100568663 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) single nucleotide variant Cohen syndrome [RCV001164009]|Inborn genetic diseases [RCV002558584]|VPS13B-related disorder [RCV003898160] Chr8:99699573 [GRCh38]
Chr8:100711801 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val) single nucleotide variant Cohen syndrome [RCV001164107] Chr8:99809375 [GRCh38]
Chr8:100821603 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10061+4G>C single nucleotide variant Cohen syndrome [RCV001159301] Chr8:99848898 [GRCh38]
Chr8:100861126 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100587642-100712137) copy number loss Cohen syndrome [RCV001195124] Chr8:100587642..100712137 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8527T>A (p.Leu2843Met) single nucleotide variant Cohen syndrome [RCV001230277] Chr8:99818794 [GRCh38]
Chr8:100831022 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2081TGG[1] (p.Val695del) microsatellite Cohen syndrome [RCV001231965] Chr8:99156616..99156618 [GRCh38]
Chr8:100168844..100168846 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9850T>G (p.Leu3284Val) single nucleotide variant Cohen syndrome [RCV001239397] Chr8:99835646 [GRCh38]
Chr8:100847874 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7159A>C (p.Asn2387His) single nucleotide variant Cohen syndrome [RCV001243039] Chr8:99766882 [GRCh38]
Chr8:100779110 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10976G>A (p.Arg3659Gln) single nucleotide variant Cohen syndrome [RCV001244824] Chr8:99859412 [GRCh38]
Chr8:100871640 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8981C>T (p.Pro2994Leu) single nucleotide variant Cohen syndrome [RCV001244963] Chr8:99820109 [GRCh38]
Chr8:100832337 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1211G>A single nucleotide variant Cohen syndrome [RCV001159498] Chr8:99876877 [GRCh38]
Chr8:100889105 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4157+5A>G single nucleotide variant Cohen syndrome [RCV001203615]|VPS13B-related disorder [RCV003963122] Chr8:99502955 [GRCh38]
Chr8:100515183 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter) single nucleotide variant Cohen syndrome [RCV001232013] Chr8:99853476 [GRCh38]
Chr8:100865704 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs) deletion Cohen syndrome [RCV001050326] Chr8:99720418 [GRCh38]
Chr8:100732646 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11381A>G (p.Gln3794Arg) single nucleotide variant Cohen syndrome [RCV001222923] Chr8:99868454 [GRCh38]
Chr8:100880682 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter) single nucleotide variant Cohen syndrome [RCV001222963] Chr8:99778828 [GRCh38]
Chr8:100791056 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1612A>G (p.Met538Val) single nucleotide variant Cohen syndrome [RCV001245051] Chr8:99136713 [GRCh38]
Chr8:100148941 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11169C>T (p.Gly3723=) single nucleotide variant Cohen syndrome [RCV001231935] Chr8:99861900 [GRCh38]
Chr8:100874128 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4424A>G (p.Asp1475Gly) single nucleotide variant Cohen syndrome [RCV001239754] Chr8:99511303 [GRCh38]
Chr8:100523531 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1865C>T (p.Thr622Ile) single nucleotide variant Cohen syndrome [RCV001243385] Chr8:99147862 [GRCh38]
Chr8:100160090 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser) single nucleotide variant Cohen syndrome [RCV001245112]|VPS13B-related disorder [RCV003399009] Chr8:99013807 [GRCh38]
Chr8:100026035 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10927G>A (p.Gly3643Arg) single nucleotide variant Cohen syndrome [RCV001245158] Chr8:99859363 [GRCh38]
Chr8:100871591 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) single nucleotide variant Cohen syndrome [RCV001163615]|Inborn genetic diseases [RCV002558571]|VPS13B-related disorder [RCV003413967] Chr8:99501778 [GRCh38]
Chr8:100514006 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) single nucleotide variant Cohen syndrome [RCV001160143]|not provided [RCV004720770] Chr8:99170064 [GRCh38]
Chr8:100182292 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg) single nucleotide variant Cohen syndrome [RCV001160145] Chr8:99192956 [GRCh38]
Chr8:100205184 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11489A>G (p.Tyr3830Cys) single nucleotide variant Cohen syndrome [RCV001248512] Chr8:99870881 [GRCh38]
Chr8:100883109 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1843G>T (p.Asp615Tyr) single nucleotide variant Cohen syndrome [RCV001233721] Chr8:99143165 [GRCh38]
Chr8:100155393 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4746-3C>A single nucleotide variant Cohen syndrome [RCV001243583]|VPS13B-related disorder [RCV003938573] Chr8:99556447 [GRCh38]
Chr8:100568675 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7291G>A (p.Val2431Met) single nucleotide variant Cohen syndrome [RCV001243588] Chr8:99776818 [GRCh38]
Chr8:100789046 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) single nucleotide variant Abnormality of the nervous system [RCV001814277]|Cohen syndrome [RCV002557468]|not provided [RCV001170004] Chr8:99720543 [GRCh38]
Chr8:100732771 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8983C>A (p.Pro2995Thr) single nucleotide variant Cohen syndrome [RCV001240197] Chr8:99820111 [GRCh38]
Chr8:100832339 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1081G>C (p.Asp361His) single nucleotide variant Cohen syndrome [RCV001240230]|VPS13B-related disorder [RCV004743350] Chr8:99121320 [GRCh38]
Chr8:100133548 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3650A>C (p.Lys1217Thr) single nucleotide variant Cohen syndrome [RCV001227698]|VPS13B-related disorder [RCV004743339] Chr8:99467618 [GRCh38]
Chr8:100479846 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8218C>T (p.Leu2740Phe) single nucleotide variant Cohen syndrome [RCV001227545]|VPS13B-related disorder [RCV004743338] Chr8:99817660 [GRCh38]
Chr8:100829888 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr) single nucleotide variant Cohen syndrome [RCV001245587]|VPS13B-related disorder [RCV004743361] Chr8:99778729 [GRCh38]
Chr8:100790957 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4831A>G (p.Ile1611Val) single nucleotide variant Cohen syndrome [RCV001065534] Chr8:99556535 [GRCh38]
Chr8:100568763 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met) single nucleotide variant Cohen syndrome [RCV001065674]|not provided [RCV004820147] Chr8:99861928 [GRCh38]
Chr8:100874156 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2269G>A (p.Val757Ile) single nucleotide variant Cohen syndrome [RCV001208984] Chr8:99170099 [GRCh38]
Chr8:100182327 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6453T>G (p.Pro2151=) single nucleotide variant Cohen syndrome [RCV001240539]|VPS13B-related disorder [RCV003908459] Chr8:99699931 [GRCh38]
Chr8:100712159 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4416A>T (p.Gln1472His) single nucleotide variant Cohen syndrome [RCV001227800] Chr8:99511295 [GRCh38]
Chr8:100523523 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5998C>T (p.Pro2000Ser) single nucleotide variant Cohen syndrome [RCV001065313] Chr8:99661443 [GRCh38]
Chr8:100673671 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1061C>T (p.Pro354Leu) single nucleotide variant Cohen syndrome [RCV001209247]|Inborn genetic diseases [RCV004033765] Chr8:99121300 [GRCh38]
Chr8:100133528 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe) single nucleotide variant Cohen syndrome [RCV001240616]|Inborn genetic diseases [RCV004679033]|VPS13B-related disorder [RCV004743351] Chr8:99854099 [GRCh38]
Chr8:100866327 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2812T>G (p.Cys938Gly) single nucleotide variant Cohen syndrome [RCV001240624] Chr8:99275242 [GRCh38]
Chr8:100287470 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) single nucleotide variant Cohen syndrome [RCV001240940]|Inborn genetic diseases [RCV003246796]|VPS13B-related disorder [RCV004743355]|not provided [RCV002469360] Chr8:99699708 [GRCh38]
Chr8:100711936 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1234T>A (p.Tyr412Asn) single nucleotide variant Cohen syndrome [RCV001240967] Chr8:99134659 [GRCh38]
Chr8:100146887 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg) single nucleotide variant Cohen syndrome [RCV001240996]|Inborn genetic diseases [RCV004679036] Chr8:99835737 [GRCh38]
Chr8:100847965 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11691G>C (p.Gln3897His) single nucleotide variant Cohen syndrome [RCV001217583]|VPS13B-related disorder [RCV004743330] Chr8:99871643 [GRCh38]
Chr8:100883871 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) single nucleotide variant Cohen syndrome [RCV001238125]|Inborn genetic diseases [RCV002563905]|not provided [RCV002281177] Chr8:99501800 [GRCh38]
Chr8:100514028 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4489A>G (p.Thr1497Ala) single nucleotide variant Cohen syndrome [RCV001241407] Chr8:99511368 [GRCh38]
Chr8:100523596 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99102953)_(99170163_?)del deletion Cohen syndrome [RCV001031637] Chr8:100115181..100182391 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys) single nucleotide variant Cohen syndrome [RCV001299001]|VPS13B-related disorder [RCV004726876]|not provided [RCV001091696] Chr8:99699879 [GRCh38]
Chr8:100712107 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3766A>G (p.Met1256Val) single nucleotide variant Cohen syndrome [RCV001241467]|Inborn genetic diseases [RCV004963280] Chr8:99481698 [GRCh38]
Chr8:100493926 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.11471C>T (p.Pro3824Leu) single nucleotide variant Cohen syndrome [RCV001244025]|VPS13B-related disorder [RCV004727038] Chr8:99870863 [GRCh38]
Chr8:100883091 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.416A>T (p.Tyr139Phe) single nucleotide variant Cohen syndrome [RCV001227985] Chr8:99102956 [GRCh38]
Chr8:100115184 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.986A>C (p.Lys329Thr) single nucleotide variant Cohen syndrome [RCV001228003]|not provided [RCV005005100] Chr8:99121225 [GRCh38]
Chr8:100133453 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2306G>C (p.Gly769Ala) single nucleotide variant Cohen syndrome [RCV001244081] Chr8:99170136 [GRCh38]
Chr8:100182364 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99575648)_(99577643_?)del deletion Cohen syndrome [RCV001031819] Chr8:100587876..100589871 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2333+1G>T single nucleotide variant Cohen syndrome [RCV001207048] Chr8:99170164 [GRCh38]
Chr8:100182392 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8793-6del deletion Cohen syndrome [RCV000913513] Chr8:99819914 [GRCh38]
Chr8:100832142 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8793-6G>T single nucleotide variant Cohen syndrome [RCV000913514] Chr8:99819915 [GRCh38]
Chr8:100832143 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=) single nucleotide variant Cohen syndrome [RCV000890618]|Inborn genetic diseases [RCV002336872] Chr8:99556612 [GRCh38]
Chr8:100568840 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) single nucleotide variant Cohen syndrome [RCV001243240]|Inborn genetic diseases [RCV002549117]|VPS13B-related disorder [RCV003411944]|not provided [RCV000999060] Chr8:99511203 [GRCh38]
Chr8:100523431 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.10868-10T>C single nucleotide variant Cohen syndrome [RCV002857884] Chr8:99859294 [GRCh38]
Chr8:100871522 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+259G>A single nucleotide variant not provided [RCV001556533] Chr8:99274591 [GRCh38]
Chr8:100286819 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8855A>G (p.Tyr2952Cys) single nucleotide variant Cohen syndrome [RCV002681135] Chr8:99819983 [GRCh38]
Chr8:100832211 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+105T>G single nucleotide variant not provided [RCV001547844] Chr8:99556758 [GRCh38]
Chr8:100568986 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-266G>A single nucleotide variant not provided [RCV001676973] Chr8:99853185 [GRCh38]
Chr8:100865413 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1844-51G>A single nucleotide variant not provided [RCV001557490] Chr8:99147790 [GRCh38]
Chr8:100160018 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+157C>G single nucleotide variant not provided [RCV001572501] Chr8:99854413 [GRCh38]
Chr8:100866641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3577C>G (p.Leu1193Val) single nucleotide variant not provided [RCV003231944] Chr8:99467545 [GRCh38]
Chr8:100479773 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*33_*34insGATT insertion not provided [RCV001598029] Chr8:99875699..99875700 [GRCh38]
Chr8:100887927..100887928 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.292-282C>A single nucleotide variant not provided [RCV001570961] Chr8:99096030 [GRCh38]
Chr8:100108258 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-257G>A single nucleotide variant not provided [RCV001553282] Chr8:99699268 [GRCh38]
Chr8:100711496 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+83T>A single nucleotide variant not provided [RCV001568531] Chr8:99275337 [GRCh38]
Chr8:100287565 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11393-249T>C single nucleotide variant not provided [RCV001576413] Chr8:99870536 [GRCh38]
Chr8:100882764 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4042+39TCCC[11] microsatellite not provided [RCV001569159] Chr8:99501896..99501897 [GRCh38]
Chr8:100514124..100514125 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.259del (p.Glu87fs) deletion Cohen syndrome [RCV002471665] Chr8:99038533 [GRCh38]
Chr8:100050761 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2515+16591C>G single nucleotide variant Cohen syndrome [RCV002471325]|VPS13B-related disorder [RCV003933797]|not provided [RCV003427488] Chr8:99209648 [GRCh38]
Chr8:100221876 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met) single nucleotide variant Cohen syndrome [RCV002571440]|VPS13B-related disorder [RCV004744369]|not provided [RCV002469928] Chr8:99193056 [GRCh38]
Chr8:100205284 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4558C>T (p.Pro1520Ser) single nucleotide variant Cohen syndrome [RCV001066727] Chr8:99511437 [GRCh38]
Chr8:100523665 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11057C>A (p.Ser3686Tyr) single nucleotide variant Cohen syndrome [RCV001044402] Chr8:99861788 [GRCh38]
Chr8:100874016 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10976G>T (p.Arg3659Leu) single nucleotide variant Cohen syndrome [RCV001066613]|Inborn genetic diseases [RCV004678946] Chr8:99859412 [GRCh38]
Chr8:100871640 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+241dup duplication not provided [RCV001720413] Chr8:99556885..99556886 [GRCh38]
Chr8:100569113..100569114 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8995-190AC[29] microsatellite not provided [RCV001621440] Chr8:99821104..99821109 [GRCh38]
Chr8:100833332..100833337 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2824+51_2824+53del deletion not provided [RCV001639112] Chr8:99275290..99275292 [GRCh38]
Chr8:100287518..100287520 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) single nucleotide variant Cohen syndrome [RCV001836471]|not provided [RCV001677613]|not specified [RCV003987896] Chr8:99832370 [GRCh38]
Chr8:100844598 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.5908+279G>A single nucleotide variant not provided [RCV001713603] Chr8:99642777 [GRCh38]
Chr8:100655005 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.10868-56T>C single nucleotide variant not provided [RCV001536425] Chr8:99859248 [GRCh38]
Chr8:100871476 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4042+39TCCC[9] microsatellite not provided [RCV001696325] Chr8:99501896..99501897 [GRCh38]
Chr8:100514124..100514125 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4157+105A>G single nucleotide variant not provided [RCV001593743] Chr8:99503055 [GRCh38]
Chr8:100515283 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+240G>A single nucleotide variant not provided [RCV001539866] Chr8:99576024 [GRCh38]
Chr8:100588252 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+254A>G single nucleotide variant not provided [RCV001539887] Chr8:99121699 [GRCh38]
Chr8:100133927 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8995-232dup duplication not provided [RCV001540311] Chr8:99821049..99821050 [GRCh38]
Chr8:100833277..100833278 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4042+39TCCC[7] microsatellite not provided [RCV001718112] Chr8:99501897..99501900 [GRCh38]
Chr8:100514125..100514128 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2515+16235C>A single nucleotide variant not provided [RCV001678254] Chr8:99209292 [GRCh38]
Chr8:100221520 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9331-137C>A single nucleotide variant not provided [RCV001710568] Chr8:99832232 [GRCh38]
Chr8:100844460 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8995-190AC[33] microsatellite not provided [RCV001670496] Chr8:99821103..99821104 [GRCh38]
Chr8:100833331..100833332 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11496-146A>G single nucleotide variant not provided [RCV001688696] Chr8:99871302 [GRCh38]
Chr8:100883530 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11044+58del deletion not provided [RCV001710951] Chr8:99859524 [GRCh38]
Chr8:100871752 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3871-156G>A single nucleotide variant not provided [RCV001698847] Chr8:99501531 [GRCh38]
Chr8:100513759 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11044+58dup duplication not provided [RCV001620681] Chr8:99859523..99859524 [GRCh38]
Chr8:100871751..100871752 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2516-146T>C single nucleotide variant not provided [RCV001677027] Chr8:99274052 [GRCh38]
Chr8:100286280 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2013+61del deletion not provided [RCV001638213] Chr8:99148055 [GRCh38]
Chr8:100160283 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4042+68C>T single nucleotide variant not provided [RCV001718113] Chr8:99501926 [GRCh38]
Chr8:100514154 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4633+302G>A single nucleotide variant not provided [RCV001676741] Chr8:99511814 [GRCh38]
Chr8:100524042 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val) single nucleotide variant Cohen syndrome [RCV001048375]|Inborn genetic diseases [RCV002553182] Chr8:99192973 [GRCh38]
Chr8:100205201 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100276485-100494359)x1 copy number loss not provided [RCV001006125] Chr8:100276485..100494359 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2333+12A>T single nucleotide variant Cohen syndrome [RCV001160144] Chr8:99170175 [GRCh38]
Chr8:100182403 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) single nucleotide variant Cohen syndrome [RCV001160562]|VPS13B-related disorder [RCV003928759]|not provided [RCV003128951] Chr8:99821312 [GRCh38]
Chr8:100833540 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val) single nucleotide variant Cohen syndrome [RCV001160563] Chr8:99821322 [GRCh38]
Chr8:100833550 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1382T>C (p.Met461Thr) single nucleotide variant Cohen syndrome [RCV001070833] Chr8:99135094 [GRCh38]
Chr8:100147322 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val) single nucleotide variant Cohen syndrome [RCV001162086] Chr8:99779002 [GRCh38]
Chr8:100791230 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser) single nucleotide variant Cohen syndrome [RCV001161995] Chr8:99641979 [GRCh38]
Chr8:100654207 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val) single nucleotide variant Cohen syndrome [RCV001162084] Chr8:99778939 [GRCh38]
Chr8:100791167 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742+2T>C single nucleotide variant Cohen syndrome [RCV001035639]|VPS13B-related disorder [RCV003411960] Chr8:99835326 [GRCh38]
Chr8:100847554 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2651-15A>C single nucleotide variant Cohen syndrome [RCV001163520]|not provided [RCV001701295] Chr8:99275066 [GRCh38]
Chr8:100287294 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs) deletion Cohen syndrome [RCV001002695] Chr8:99778935 [GRCh38]
Chr8:100791163 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala) single nucleotide variant Cohen syndrome [RCV001163614] Chr8:99481794 [GRCh38]
Chr8:100494022 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8733C>A (p.Phe2911Leu) single nucleotide variant Cohen syndrome [RCV001065584] Chr8:99819523 [GRCh38]
Chr8:100831751 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His) single nucleotide variant Cohen syndrome [RCV001163714]|VPS13B-related disorder [RCV003918748] Chr8:99142990 [GRCh38]
Chr8:100155218 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4746-13G>A single nucleotide variant Cohen syndrome [RCV001158995] Chr8:99556437 [GRCh38]
Chr8:100568665 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro) single nucleotide variant Cohen syndrome [RCV001159090]|not provided [RCV001172189] Chr8:99717198 [GRCh38]
Chr8:100729426 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*61G>A single nucleotide variant Cohen syndrome [RCV001160757] Chr8:99875727 [GRCh38]
Chr8:100887955 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1539A>G single nucleotide variant Cohen syndrome [RCV001160865] Chr8:99877205 [GRCh38]
Chr8:100889433 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.*1570G>A single nucleotide variant Cohen syndrome [RCV001160866] Chr8:99877236 [GRCh38]
Chr8:100889464 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs) deletion Cohen syndrome [RCV001068966] Chr8:99192889..99192890 [GRCh38]
Chr8:100205117..100205118 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys) single nucleotide variant Cohen syndrome [RCV001158996] Chr8:99556552 [GRCh38]
Chr8:100568780 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) single nucleotide variant Cohen syndrome [RCV001159091]|VPS13B-related disorder [RCV004743308] Chr8:99717307 [GRCh38]
Chr8:100729535 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000008.11:g.(?_99699505)_(99721067_?)del deletion Cohen syndrome [RCV001031352] Chr8:100711733..100733295 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met) single nucleotide variant Cohen syndrome [RCV001159200] Chr8:99817712 [GRCh38]
Chr8:100829940 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) single nucleotide variant Cohen syndrome [RCV001159393] Chr8:99868317 [GRCh38]
Chr8:100880545 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) single nucleotide variant Cohen syndrome [RCV001159394]|VPS13B-related disorder [RCV003918746] Chr8:99870883 [GRCh38]
Chr8:100883111 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11932C>T (p.Gln3978Ter) single nucleotide variant Cohen syndrome [RCV001963917] Chr8:99875604 [GRCh38]
Chr8:100887832 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1431G>A single nucleotide variant Cohen syndrome [RCV001159500] Chr8:99877097 [GRCh38]
Chr8:100889325 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99102933)_(99103140_?)del deletion Cohen syndrome [RCV001033561] Chr8:100115161..100115368 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) single nucleotide variant Cohen syndrome [RCV001160337]|not provided [RCV001564562] Chr8:99575762 [GRCh38]
Chr8:100587990 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val) single nucleotide variant Cohen syndrome [RCV001160338] Chr8:99577550 [GRCh38]
Chr8:100589778 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8512_8516del (p.Lys2838fs) deletion not provided [RCV001172190] Chr8:99818777..99818781 [GRCh38]
Chr8:100831005..100831009 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs) deletion Cohen syndrome [RCV001172317] Chr8:99721016 [GRCh38]
Chr8:100733244 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3210+311T>A single nucleotide variant not provided [RCV001611888] Chr8:99431975 [GRCh38]
Chr8:100444203 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4746-85C>T single nucleotide variant not provided [RCV001684128] Chr8:99556365 [GRCh38]
Chr8:100568593 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2515+16235del deletion not provided [RCV001666865] Chr8:99209292 [GRCh38]
Chr8:100221520 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8995-190AC[30] microsatellite not provided [RCV001691036] Chr8:99821104..99821107 [GRCh38]
Chr8:100833332..100833335 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2824+53del deletion not provided [RCV001616733] Chr8:99275290 [GRCh38]
Chr8:100287518 [GRCh37]
Chr8:8q22.2		 benign
NC_000008.11:g.(?_99501677)_(99502960_?)del deletion Cohen syndrome [RCV001032649] Chr8:100513905..100515188 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6046+1G>T single nucleotide variant Cohen syndrome [RCV001068786] Chr8:99661492 [GRCh38]
Chr8:100673720 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.11:g.(?_99467404)_(99521020_?)del deletion Cohen syndrome [RCV001032701] Chr8:100479632..100533248 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7247+247A>G single nucleotide variant not provided [RCV001670910] Chr8:99767217 [GRCh38]
Chr8:100779445 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3666+55T>C single nucleotide variant Cohen syndrome [RCV001532825]|not provided [RCV001619943] Chr8:99467689 [GRCh38]
Chr8:100479917 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4225-55_4225-54insA insertion not provided [RCV001665792] Chr8:99511049..99511050 [GRCh38]
Chr8:100523277..100523278 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4042+116_4042+117insGTC insertion not provided [RCV001588433] Chr8:99501974..99501975 [GRCh38]
Chr8:100514202..100514203 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10198C>T (p.Pro3400Ser) single nucleotide variant Cohen syndrome [RCV001049522] Chr8:99853587 [GRCh38]
Chr8:100865815 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11392+211G>A single nucleotide variant not provided [RCV001667097] Chr8:99868676 [GRCh38]
Chr8:100880904 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) single nucleotide variant Cohen syndrome [RCV001588012] Chr8:99111277 [GRCh38]
Chr8:100123505 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11746-296T>C single nucleotide variant not provided [RCV001670504] Chr8:99875122 [GRCh38]
Chr8:100887350 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr) single nucleotide variant Cohen syndrome [RCV001047489]|Inborn genetic diseases [RCV003346277] Chr8:99832496 [GRCh38]
Chr8:100844724 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs) deletion Cohen syndrome [RCV001071344] Chr8:99868437 [GRCh38]
Chr8:100880665 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4225-54T>A single nucleotide variant not provided [RCV001707469] Chr8:99511050 [GRCh38]
Chr8:100523278 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.10933G>A (p.Gly3645Arg) single nucleotide variant Cohen syndrome [RCV001069399] Chr8:99859369 [GRCh38]
Chr8:100871597 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) duplication Cohen syndrome [RCV001174532] Chr8:99641939..99641940 [GRCh38]
Chr8:100654167..100654168 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2824+84T>A single nucleotide variant not provided [RCV001669940] Chr8:99275338 [GRCh38]
Chr8:100287566 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.412+341del deletion not provided [RCV001669946] Chr8:99096756 [GRCh38]
Chr8:100108984 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2824+86T>A single nucleotide variant not provided [RCV001645869] Chr8:99275340 [GRCh38]
Chr8:100287568 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9331-98dup duplication Cohen syndrome [RCV001827547]|not provided [RCV001614254] Chr8:99832259..99832260 [GRCh38]
Chr8:100844487..100844488 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11958G>A (p.Met3986Ile) single nucleotide variant Cohen syndrome [RCV001588013] Chr8:99875630 [GRCh38]
Chr8:100887858 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+16525del deletion not provided [RCV001641245] Chr8:99209567 [GRCh38]
Chr8:100221795 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.291+277C>T single nucleotide variant not provided [RCV001583408] Chr8:99038843 [GRCh38]
Chr8:100051071 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+47T>C single nucleotide variant not provided [RCV001666173] Chr8:99818581 [GRCh38]
Chr8:100830809 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4042+39TCCC[10] microsatellite not provided [RCV001694463] Chr8:99501896..99501897 [GRCh38]
Chr8:100514124..100514125 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg) single nucleotide variant Cohen syndrome [RCV001050375] Chr8:99156715 [GRCh38]
Chr8:100168943 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5909-327T>A single nucleotide variant not provided [RCV001648311] Chr8:99661027 [GRCh38]
Chr8:100673255 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2013+59_2013+61del deletion not provided [RCV001564762] Chr8:99148055..99148057 [GRCh38]
Chr8:100160283..100160285 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+139del deletion not provided [RCV001690485] Chr8:99038680 [GRCh38]
Chr8:100050908 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9330+222C>T single nucleotide variant not provided [RCV001565236] Chr8:99824200 [GRCh38]
Chr8:100836428 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu) single nucleotide variant Cohen syndrome [RCV001161902]|VPS13B-related disorder [RCV004743313] Chr8:99115834 [GRCh38]
Chr8:100128062 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8621+178T>A single nucleotide variant not provided [RCV001652097] Chr8:99819066 [GRCh38]
Chr8:100831294 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) single nucleotide variant Cohen syndrome [RCV001162175]|Inborn genetic diseases [RCV002559549] Chr8:99823961 [GRCh38]
Chr8:100836189 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99096302)_(99556663_?)del deletion Cohen syndrome [RCV001031249] Chr8:100108530..100568891 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9775A>T (p.Ile3259Phe) single nucleotide variant Cohen syndrome [RCV001067715] Chr8:99835571 [GRCh38]
Chr8:100847799 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6046+1G>C single nucleotide variant Cohen syndrome [RCV001002696] Chr8:99661492 [GRCh38]
Chr8:100673720 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7367T>C (p.Val2456Ala) single nucleotide variant Cohen syndrome [RCV001067952] Chr8:99776894 [GRCh38]
Chr8:100789122 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) single nucleotide variant Cohen syndrome [RCV001163426] Chr8:99135083 [GRCh38]
Chr8:100147311 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.3666+199A>G single nucleotide variant not provided [RCV001724441] Chr8:99467833 [GRCh38]
Chr8:100480061 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup) duplication Cohen syndrome [RCV001215584]|not provided [RCV003480999] Chr8:99832428..99832429 [GRCh38]
Chr8:100844656..100844657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8647G>T (p.Ala2883Ser) single nucleotide variant Cohen syndrome [RCV001246485] Chr8:99819437 [GRCh38]
Chr8:100831665 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1066A>G (p.Ile356Val) single nucleotide variant Cohen syndrome [RCV001041600] Chr8:99121305 [GRCh38]
Chr8:100133533 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7277C>G (p.Thr2426Ser) single nucleotide variant Cohen syndrome [RCV001046831] Chr8:99776804 [GRCh38]
Chr8:100789032 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4420T>G (p.Phe1474Val) single nucleotide variant Cohen syndrome [RCV001233025] Chr8:99511299 [GRCh38]
Chr8:100523527 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8692G>A (p.Val2898Ile) single nucleotide variant Cohen syndrome [RCV001212446] Chr8:99819482 [GRCh38]
Chr8:100831710 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly) single nucleotide variant Cohen syndrome [RCV001041724]|Inborn genetic diseases [RCV003307823]|not provided [RCV001759742] Chr8:99556500 [GRCh38]
Chr8:100568728 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) single nucleotide variant Cohen syndrome [RCV001060183]|Inborn genetic diseases [RCV002554426] Chr8:99642207 [GRCh38]
Chr8:100654435 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99013769)_(99209688_?)del deletion Cohen syndrome [RCV001032599] Chr8:100025997..100221916 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7165G>A (p.Val2389Met) single nucleotide variant Cohen syndrome [RCV001216076] Chr8:99766888 [GRCh38]
Chr8:100779116 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp) single nucleotide variant Cohen syndrome [RCV001237136]|Inborn genetic diseases [RCV003294122]|VPS13B-related disorder [RCV004743346] Chr8:99641825 [GRCh38]
Chr8:100654053 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly) single nucleotide variant Cohen syndrome [RCV001232399]|Inborn genetic diseases [RCV002563221] Chr8:99147921 [GRCh38]
Chr8:100160149 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2330G>A (p.Cys777Tyr) single nucleotide variant Cohen syndrome [RCV001233555] Chr8:99170160 [GRCh38]
Chr8:100182388 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100286427-100287483)x1 copy number loss not provided [RCV001092987] Chr8:100286427..100287483 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp) single nucleotide variant Cohen syndrome [RCV001247267]|Inborn genetic diseases [RCV002451610]|VPS13B-related disorder [RCV003399016] Chr8:99096387 [GRCh38]
Chr8:100108615 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) single nucleotide variant Cohen syndrome [RCV001161996]|Inborn genetic diseases [RCV003284006]|VPS13B-related disorder [RCV004743314] Chr8:99642062 [GRCh38]
Chr8:100654290 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) single nucleotide variant Cohen syndrome [RCV001860546]|Retinitis pigmentosa [RCV001199600] Chr8:99121218 [GRCh38]
Chr8:100133446 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser) single nucleotide variant Cohen syndrome [RCV001057212]|Inborn genetic diseases [RCV003160461] Chr8:99467506 [GRCh38]
Chr8:100479734 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11834G>A (p.Ser3945Asn) single nucleotide variant Cohen syndrome [RCV001061151] Chr8:99875506 [GRCh38]
Chr8:100887734 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10825G>A (p.Ala3609Thr) single nucleotide variant Cohen syndrome [RCV001061244]|Inborn genetic diseases [RCV004963075] Chr8:99854214 [GRCh38]
Chr8:100866442 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*637C>G single nucleotide variant Cohen syndrome [RCV001162380] Chr8:99876303 [GRCh38]
Chr8:100888531 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) single nucleotide variant Cohen syndrome [RCV001004101] Chr8:99013868 [GRCh38]
Chr8:100026096 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser) single nucleotide variant Cohen syndrome [RCV001233680]|Inborn genetic diseases [RCV002563236] Chr8:99481722 [GRCh38]
Chr8:100493950 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg) single nucleotide variant Cohen syndrome [RCV001217963]|VPS13B-related disorder [RCV003414013]|not provided [RCV004778004] Chr8:99853492 [GRCh38]
Chr8:100865720 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr) single nucleotide variant Cohen syndrome [RCV001050967]|Inborn genetic diseases [RCV002393251]|VPS13B-related disorder [RCV004743266] Chr8:99135103 [GRCh38]
Chr8:100147331 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) single nucleotide variant Cohen syndrome [RCV001039387]|Inborn genetic diseases [RCV002552487]|VPS13B-related disorder [RCV004743257]|not provided [RCV004792645] Chr8:99854235 [GRCh38]
Chr8:100866463 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.114C>T (p.Ser38=) single nucleotide variant Cohen syndrome [RCV001057763] Chr8:99013902 [GRCh38]
Chr8:100026130 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2923C>A (p.His975Asn) single nucleotide variant Cohen syndrome [RCV001220147] Chr8:99384306 [GRCh38]
Chr8:100396534 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=) single nucleotide variant Cohen syndrome [RCV001164010] Chr8:99699619 [GRCh38]
Chr8:100711847 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10297C>T (p.Leu3433Phe) single nucleotide variant Cohen syndrome [RCV001230531] Chr8:99853686 [GRCh38]
Chr8:100865914 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3521G>A (p.Cys1174Tyr) single nucleotide variant Cohen syndrome [RCV001039983] Chr8:99467489 [GRCh38]
Chr8:100479717 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu) single nucleotide variant Cohen syndrome [RCV001164203] Chr8:99832538 [GRCh38]
Chr8:100844766 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7247+2043_7403del deletion Cohen syndrome [RCV001234253] Chr8:99769011..99776928 [GRCh38]
Chr8:100781239..100789156 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.907C>G (p.His303Asp) single nucleotide variant Cohen syndrome [RCV001248100] Chr8:99115844 [GRCh38]
Chr8:100128072 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2543C>T (p.Thr848Ile) single nucleotide variant Cohen syndrome [RCV001069286] Chr8:99274225 [GRCh38]
Chr8:100286453 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7705G>A (p.Val2569Ile) single nucleotide variant Cohen syndrome [RCV001069300] Chr8:99778957 [GRCh38]
Chr8:100791185 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11548G>T (p.Val3850Phe) single nucleotide variant Cohen syndrome [RCV001206064] Chr8:99871500 [GRCh38]
Chr8:100883728 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6565C>A (p.Leu2189Met) single nucleotide variant Cohen syndrome [RCV001236235] Chr8:99717281 [GRCh38]
Chr8:100729509 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2139T>A (p.His713Gln) single nucleotide variant Cohen syndrome [RCV001206931] Chr8:99156674 [GRCh38]
Chr8:100168902 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99135015)_(99143165_?)del deletion Cohen syndrome [RCV001033350] Chr8:100147243..100155393 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.11:g.(?_99192876)_(99209768_?)dup duplication Cohen syndrome [RCV001033493] Chr8:100205104..100221996 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8645G>T (p.Cys2882Phe) single nucleotide variant Cohen syndrome [RCV001040251] Chr8:99819435 [GRCh38]
Chr8:100831663 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3666+6T>C single nucleotide variant Cohen syndrome [RCV001058649]|VPS13B-related disorder [RCV003953450] Chr8:99467640 [GRCh38]
Chr8:100479868 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9293C>A (p.Pro3098Gln) single nucleotide variant Cohen syndrome [RCV001216203] Chr8:99823941 [GRCh38]
Chr8:100836169 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile) single nucleotide variant Cohen syndrome [RCV001248081]|Inborn genetic diseases [RCV002570367]|VPS13B-related disorder [RCV004743365] Chr8:99699775 [GRCh38]
Chr8:100712003 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7243C>A (p.Gln2415Lys) single nucleotide variant Cohen syndrome [RCV001218002] Chr8:99766966 [GRCh38]
Chr8:100779194 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr) single nucleotide variant Cohen syndrome [RCV001236309] Chr8:99809391 [GRCh38]
Chr8:100821619 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3802A>T (p.Ser1268Cys) single nucleotide variant Cohen syndrome [RCV001235350] Chr8:99481734 [GRCh38]
Chr8:100493962 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99142974)_(99143165_?)del deletion Cohen syndrome [RCV001033555] Chr8:100155202..100155393 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99766774)_(99784476_?)dup duplication Cohen syndrome [RCV001033617] Chr8:100779002..100796704 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10538T>C (p.Val3513Ala) single nucleotide variant Cohen syndrome [RCV001037745] Chr8:99853927 [GRCh38]
Chr8:100866155 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly) single nucleotide variant Cohen syndrome [RCV001233612]|not specified [RCV001819932] Chr8:99170078 [GRCh38]
Chr8:100182306 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11002G>A (p.Val3668Ile) single nucleotide variant Cohen syndrome [RCV001248216]|VPS13B-related disorder [RCV004743366] Chr8:99859438 [GRCh38]
Chr8:100871666 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99661344)_(99784486_?)del deletion Cohen syndrome [RCV001033953] Chr8:100673572..100796714 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1127A>G (p.His376Arg) single nucleotide variant Cohen syndrome [RCV001213135] Chr8:99121366 [GRCh38]
Chr8:100133594 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2778del (p.Phe927fs) deletion Cohen syndrome [RCV001245977] Chr8:99275207 [GRCh38]
Chr8:100287435 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) single nucleotide variant Cohen syndrome [RCV001038233]|Inborn genetic diseases [RCV004031067]|VPS13B-related disorder [RCV004743256] Chr8:99520941 [GRCh38]
Chr8:100533169 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) single nucleotide variant Cohen syndrome [RCV001041123]|VPS13B-related disorder [RCV003413831] Chr8:99861859 [GRCh38]
Chr8:100874087 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+664A>G single nucleotide variant Cohen syndrome [RCV001230802] Chr8:99507867 [GRCh38]
Chr8:100520095 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.973C>G (p.Pro325Ala) single nucleotide variant Cohen syndrome [RCV001211415] Chr8:99121212 [GRCh38]
Chr8:100133440 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2843G>C (p.Ser948Thr) single nucleotide variant Cohen syndrome [RCV001232947] Chr8:99384226 [GRCh38]
Chr8:100396454 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His) single nucleotide variant Cohen syndrome [RCV001216793]|VPS13B-related disorder [RCV003945924] Chr8:99642012 [GRCh38]
Chr8:100654240 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9259A>C (p.Ile3087Leu) single nucleotide variant Cohen syndrome [RCV001234254] Chr8:99823907 [GRCh38]
Chr8:100836135 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2628A>G (p.Ile876Met) single nucleotide variant Cohen syndrome [RCV001203382]|Inborn genetic diseases [RCV004963181] Chr8:99274310 [GRCh38]
Chr8:100286538 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) insertion Cohen syndrome [RCV001195796] Chr8:99832368..99832369 [GRCh38]
Chr8:100844596..100844597 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile) single nucleotide variant Cohen syndrome [RCV001053819]|VPS13B-related disorder [RCV003405259] Chr8:99511330 [GRCh38]
Chr8:100523558 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6538A>G (p.Ile2180Val) single nucleotide variant Cohen syndrome [RCV001246275]|not provided [RCV004692329] Chr8:99717254 [GRCh38]
Chr8:100729482 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs) deletion Cohen syndrome [RCV001064214] Chr8:99641944..99641965 [GRCh38]
Chr8:100654172..100654193 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln) single nucleotide variant Cohen syndrome [RCV001158797]|VPS13B-related disorder [RCV004743306] Chr8:99147913 [GRCh38]
Chr8:100160141 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7199T>C (p.Leu2400Pro) single nucleotide variant Cohen syndrome [RCV001036101] Chr8:99766922 [GRCh38]
Chr8:100779150 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6698T>C (p.Leu2233Pro) single nucleotide variant Cohen syndrome [RCV001229066]|VPS13B-related disorder [RCV003898217] Chr8:99720385 [GRCh38]
Chr8:100732613 [GRCh37]
Chr8:8q22.2		 likely pathogenic|uncertain significance
NM_152564.5(VPS13B):c.3244A>C (p.Asn1082His) single nucleotide variant Cohen syndrome [RCV001246518] Chr8:99442434 [GRCh38]
Chr8:100454662 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5636G>A (p.Ser1879Asn) single nucleotide variant Cohen syndrome [RCV001064834]|VPS13B-related disorder [RCV003425907] Chr8:99642226 [GRCh38]
Chr8:100654454 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6848A>T (p.Gln2283Leu) single nucleotide variant Cohen syndrome [RCV001247475] Chr8:99720535 [GRCh38]
Chr8:100732763 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2864A>G (p.Asn955Ser) single nucleotide variant Cohen syndrome [RCV001054875] Chr8:99384247 [GRCh38]
Chr8:100396475 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1037C>A single nucleotide variant Cohen syndrome [RCV001159497] Chr8:99876703 [GRCh38]
Chr8:100888931 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*1239C>T single nucleotide variant Cohen syndrome [RCV001159499] Chr8:99876905 [GRCh38]
Chr8:100889133 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11492T>C (p.Val3831Ala) single nucleotide variant Cohen syndrome [RCV001040777] Chr8:99870884 [GRCh38]
Chr8:100883112 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7620A>C (p.Gln2540His) single nucleotide variant Cohen syndrome [RCV001040823]|VPS13B-related disorder [RCV004743258] Chr8:99778872 [GRCh38]
Chr8:100791100 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg) single nucleotide variant Cohen syndrome [RCV001164106]|VPS13B-related disorder [RCV003405362] Chr8:99784466 [GRCh38]
Chr8:100796694 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*745C>G single nucleotide variant Cohen syndrome [RCV001164427] Chr8:99876411 [GRCh38]
Chr8:100888639 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*831C>T single nucleotide variant Cohen syndrome [RCV001164428]|not provided [RCV002223270] Chr8:99876497 [GRCh38]
Chr8:100888725 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2536C>G (p.Leu846Val) single nucleotide variant Cohen syndrome [RCV001036981] Chr8:99274218 [GRCh38]
Chr8:100286446 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7453T>C (p.Phe2485Leu) single nucleotide variant Cohen syndrome [RCV001055362] Chr8:99778705 [GRCh38]
Chr8:100790933 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9023C>A (p.Ala3008Glu) single nucleotide variant Cohen syndrome [RCV001055364] Chr8:99821322 [GRCh38]
Chr8:100833550 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp) single nucleotide variant Cohen syndrome [RCV001160246] Chr8:99442569 [GRCh38]
Chr8:100454797 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) single nucleotide variant Cohen syndrome [RCV001160248]|Inborn genetic diseases [RCV004678972]|VPS13B-related disorder [RCV004743312] Chr8:99467609 [GRCh38]
Chr8:100479837 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.74A>T (p.Asp25Val) single nucleotide variant Cohen syndrome [RCV001247881] Chr8:99013862 [GRCh38]
Chr8:100026090 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter) single nucleotide variant Cohen syndrome [RCV001230538] Chr8:99134671 [GRCh38]
Chr8:100146899 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4224+684T>G single nucleotide variant Cohen syndrome [RCV001248219] Chr8:99507887 [GRCh38]
Chr8:100520115 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly) single nucleotide variant Cohen syndrome [RCV001160450] Chr8:99766958 [GRCh38]
Chr8:100779186 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) single nucleotide variant Cohen syndrome [RCV001160451]|VPS13B-related disorder [RCV003908413] Chr8:99778713 [GRCh38]
Chr8:100790941 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala) single nucleotide variant Cohen syndrome [RCV001160662] Chr8:99853582 [GRCh38]
Chr8:100865810 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2272C>G (p.Pro758Ala) single nucleotide variant Cohen syndrome [RCV001051604] Chr8:99170102 [GRCh38]
Chr8:100182330 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys) single nucleotide variant Cohen syndrome [RCV001248478]|VPS13B-related disorder [RCV004743367]|not provided [RCV004692343] Chr8:99096348 [GRCh38]
Chr8:100108576 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs) duplication Cohen syndrome [RCV001003292] Chr8:99641931..99641932 [GRCh38]
Chr8:100654159..100654160 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11750A>T (p.Asp3917Val) single nucleotide variant Cohen syndrome [RCV001245808] Chr8:99875422 [GRCh38]
Chr8:100887650 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7536G>C (p.Trp2512Cys) single nucleotide variant Cohen syndrome [RCV001041698] Chr8:99778788 [GRCh38]
Chr8:100791016 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.943G>A (p.Glu315Lys) single nucleotide variant Cohen syndrome [RCV001248678]|VPS13B-related disorder [RCV003393918] Chr8:99121182 [GRCh38]
Chr8:100133410 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2912G>A (p.Arg971Gln) single nucleotide variant Cohen syndrome [RCV001248744]|not provided [RCV004692349] Chr8:99384295 [GRCh38]
Chr8:100396523 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4745+1G>A single nucleotide variant Cohen syndrome [RCV001862729]|Global developmental delay [RCV001003972]|Myopia [RCV001003971] Chr8:99521011 [GRCh38]
Chr8:100533239 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln) single nucleotide variant Cohen syndrome [RCV001047634]|Inborn genetic diseases [RCV004963031]|VPS13B-related disorder [RCV004743261]|not provided [RCV004693506] Chr8:99778781 [GRCh38]
Chr8:100791009 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4262A>T (p.His1421Leu) single nucleotide variant Cohen syndrome [RCV001205443] Chr8:99511141 [GRCh38]
Chr8:100523369 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.332G>A (p.Ser111Asn) single nucleotide variant Cohen syndrome [RCV001229389] Chr8:99096352 [GRCh38]
Chr8:100108580 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.(?_99013769)_(99875686_?)dup duplication Cohen syndrome [RCV001033507] Chr8:100025997..100887914 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1960A>G (p.Met654Val) single nucleotide variant Cohen syndrome [RCV001042155] Chr8:99147957 [GRCh38]
Chr8:100160185 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) microsatellite Cohen syndrome [RCV001231742]|Inborn genetic diseases [RCV004963256]|not provided [RCV001788428] Chr8:99871623..99871624 [GRCh38]
Chr8:100883851..100883852 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.10936G>A (p.Val3646Ile) single nucleotide variant Cohen syndrome [RCV001056920] Chr8:99859372 [GRCh38]
Chr8:100871600 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7703T>C (p.Ile2568Thr) single nucleotide variant Cohen syndrome [RCV001056941] Chr8:99778955 [GRCh38]
Chr8:100791183 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7779+5G>T single nucleotide variant Cohen syndrome [RCV001063012]|Inborn genetic diseases [RCV002411580] Chr8:99779036 [GRCh38]
Chr8:100791264 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.865A>G (p.Ile289Val) single nucleotide variant Cohen syndrome [RCV001063060] Chr8:99115802 [GRCh38]
Chr8:100128030 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11542G>C (p.Asp3848His) single nucleotide variant Cohen syndrome [RCV001057036] Chr8:99871494 [GRCh38]
Chr8:100883722 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala) single nucleotide variant Cohen syndrome [RCV001063424] Chr8:99778862 [GRCh38]
Chr8:100791090 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met) single nucleotide variant Cohen syndrome [RCV001232140] Chr8:99861936 [GRCh38]
Chr8:100874164 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys) single nucleotide variant Cohen syndrome [RCV001053261]|Inborn genetic diseases [RCV002553753]|VPS13B-related disorder [RCV003405258] Chr8:99511428 [GRCh38]
Chr8:100523656 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6335A>G (p.Gln2112Arg) single nucleotide variant Cohen syndrome [RCV001042877] Chr8:99699813 [GRCh38]
Chr8:100712041 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2667G>T (p.Glu889Asp) single nucleotide variant Cohen syndrome [RCV001063521] Chr8:99275097 [GRCh38]
Chr8:100287325 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) single nucleotide variant Cohen syndrome [RCV001252627] Chr8:99778777 [GRCh38]
Chr8:100791005 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs) deletion Cohen syndrome [RCV001252628] Chr8:99809502 [GRCh38]
Chr8:100821730 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1950C>A (p.Cys650Ter) single nucleotide variant Cohen syndrome [RCV005093041]|Microcephaly [RCV001252692] Chr8:99147947 [GRCh38]
Chr8:100160175 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2338A>G (p.Lys780Glu) single nucleotide variant Cohen syndrome [RCV002549247]|Microcephaly [RCV001252779] Chr8:99192880 [GRCh38]
Chr8:100205108 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9906G>A (p.Trp3302Ter) single nucleotide variant Microcephaly [RCV001252693] Chr8:99835702 [GRCh38]
Chr8:100847930 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn) single nucleotide variant Cohen syndrome [RCV001255754] Chr8:99556536 [GRCh38]
Chr8:100568764 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter) single nucleotide variant Cohen syndrome [RCV001255790] Chr8:99013867 [GRCh38]
Chr8:100026095 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) deletion Cohen syndrome [RCV001251151] Chr8:99776892 [GRCh38]
Chr8:100789120 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11655del (p.Val3886fs) deletion Cohen syndrome [RCV001880131]|Inborn genetic diseases [RCV001267065] Chr8:99871604 [GRCh38]
Chr8:100883832 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.412+340_412+341del deletion not provided [RCV001580978] Chr8:99096756..99096757 [GRCh38]
Chr8:100108984..100108985 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q22.2(chr8:100324335-100564600)x1 copy number loss not provided [RCV001259020] Chr8:100324335..100564600 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q22.2(chr8:100342240-100494359)x1 copy number loss not provided [RCV001259021] Chr8:100342240..100494359 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3210+184A>C single nucleotide variant not provided [RCV001641595] Chr8:99431848 [GRCh38]
Chr8:100444076 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8963C>T (p.Ala2988Val) single nucleotide variant Cohen syndrome [RCV001313551] Chr8:99820091 [GRCh38]
Chr8:100832319 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3578T>G (p.Leu1193Arg) single nucleotide variant Cohen syndrome [RCV001304560] Chr8:99467546 [GRCh38]
Chr8:100479774 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3957T>A (p.Ser1319Arg) single nucleotide variant Cohen syndrome [RCV001302707]|VPS13B-related disorder [RCV004727107] Chr8:99501773 [GRCh38]
Chr8:100514001 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4950-29G>A single nucleotide variant Cohen syndrome [RCV001255748]|VPS13B-related disorder [RCV003973167]|not provided [RCV004706076] Chr8:99575629 [GRCh38]
Chr8:100587857 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+707C>G single nucleotide variant Cohen syndrome [RCV001879967]|Pituitary stalk interruption syndrome [RCV001257289]|VPS13B-related disorder [RCV003416133] Chr8:99507910 [GRCh38]
Chr8:100520138 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) duplication Cohen syndrome [RCV003148962]|Inborn genetic diseases [RCV001267027]|not provided [RCV004590292] Chr8:99853809..99853810 [GRCh38]
Chr8:100866037..100866038 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1279G>T (p.Glu427Ter) single nucleotide variant Inborn genetic diseases [RCV001267212] Chr8:99134704 [GRCh38]
Chr8:100146932 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6746T>A (p.Val2249Glu) single nucleotide variant Cohen syndrome [RCV001348635] Chr8:99720433 [GRCh38]
Chr8:100732661 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1553C>T (p.Thr518Ile) single nucleotide variant Cohen syndrome [RCV001349059]|VPS13B-related disorder [RCV004743419] Chr8:99135723 [GRCh38]
Chr8:100147951 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11093T>C (p.Met3698Thr) single nucleotide variant not provided [RCV001310639] Chr8:99861824 [GRCh38]
Chr8:100874052 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1948T>C (p.Cys650Arg) single nucleotide variant not provided [RCV001531085] Chr8:99147945 [GRCh38]
Chr8:100160173 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6301A>G (p.Arg2101Gly) single nucleotide variant Cohen syndrome [RCV001349276] Chr8:99699779 [GRCh38]
Chr8:100712007 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1159A>G (p.Ile387Val) single nucleotide variant Cohen syndrome [RCV001279382] Chr8:99121398 [GRCh38]
Chr8:100133626 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5072C>G (p.Thr1691Ser) single nucleotide variant Cohen syndrome [RCV001279389]|VPS13B-related disorder [RCV004743381] Chr8:99575780 [GRCh38]
Chr8:100588008 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=) single nucleotide variant Cohen syndrome [RCV001279779] Chr8:99853454 [GRCh38]
Chr8:100865682 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile) single nucleotide variant Cohen syndrome [RCV001835358]|Inborn genetic diseases [RCV001267432]|VPS13B-related disorder [RCV003405476] Chr8:99819500 [GRCh38]
Chr8:100831728 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle) indel Cohen syndrome [RCV001255770] Chr8:99854194..99854213 [GRCh38]
Chr8:100866422..100866441 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg) single nucleotide variant Cohen syndrome [RCV001315800]|not provided [RCV003313213] Chr8:99861898 [GRCh38]
Chr8:100874126 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2995T>C (p.Ser999Pro) single nucleotide variant Cohen syndrome [RCV001306747] Chr8:99391617 [GRCh38]
Chr8:100403845 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr) single nucleotide variant Cohen syndrome [RCV001301102]|Inborn genetic diseases [RCV004679055]|VPS13B-related disorder [RCV004743390] Chr8:99853524 [GRCh38]
Chr8:100865752 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1406A>G (p.Asn469Ser) single nucleotide variant Cohen syndrome [RCV001301363] Chr8:99135118 [GRCh38]
Chr8:100147346 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser) single nucleotide variant Cohen syndrome [RCV001350891]|Inborn genetic diseases [RCV002368151] Chr8:99720980 [GRCh38]
Chr8:100733208 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9662C>A (p.Thr3221Asn) single nucleotide variant Cohen syndrome [RCV001314564]|VPS13B-related disorder [RCV004743399] Chr8:99835244 [GRCh38]
Chr8:100847472 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile) single nucleotide variant Cohen syndrome [RCV001309960]|Inborn genetic diseases [RCV002350564]|VPS13B-related disorder [RCV004743395] Chr8:99103051 [GRCh38]
Chr8:100115279 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8940G>C (p.Glu2980Asp) single nucleotide variant Cohen syndrome [RCV001319067] Chr8:99820068 [GRCh38]
Chr8:100832296 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1221A>C (p.Gln407His) single nucleotide variant Cohen syndrome [RCV001297620] Chr8:99134646 [GRCh38]
Chr8:100146874 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4868A>C (p.Lys1623Thr) single nucleotide variant Cohen syndrome [RCV001298676] Chr8:99556572 [GRCh38]
Chr8:100568800 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) single nucleotide variant Cohen syndrome [RCV001298743]|not provided [RCV004778049] Chr8:99853609 [GRCh38]
Chr8:100865837 [GRCh37]
Chr8:8q22.2		 benign|uncertain significance
NM_152564.5(VPS13B):c.7540A>G (p.Asn2514Asp) single nucleotide variant Cohen syndrome [RCV001300537] Chr8:99778792 [GRCh38]
Chr8:100791020 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3889G>A (p.Gly1297Ser) single nucleotide variant Cohen syndrome [RCV001314297] Chr8:99501705 [GRCh38]
Chr8:100513933 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9311A>G (p.Asn3104Ser) single nucleotide variant Cohen syndrome [RCV001316251] Chr8:99823959 [GRCh38]
Chr8:100836187 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9068A>G (p.His3023Arg) single nucleotide variant Cohen syndrome [RCV001317437] Chr8:99821367 [GRCh38]
Chr8:100833595 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe) single nucleotide variant Cohen syndrome [RCV001295508]|Inborn genetic diseases [RCV002418886] Chr8:99809510 [GRCh38]
Chr8:100821738 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs) duplication Cohen syndrome [RCV003606012] Chr8:99156640..99156641 [GRCh38]
Chr8:100168868..100168869 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10018G>A (p.Ala3340Thr) single nucleotide variant Cohen syndrome [RCV001301036] Chr8:99848851 [GRCh38]
Chr8:100861079 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2089A>G (p.Lys697Glu) single nucleotide variant Cohen syndrome [RCV001319686] Chr8:99156624 [GRCh38]
Chr8:100168852 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7156A>T (p.Ile2386Phe) single nucleotide variant Cohen syndrome [RCV001351047] Chr8:99766879 [GRCh38]
Chr8:100779107 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11113G>A (p.Glu3705Lys) single nucleotide variant Cohen syndrome [RCV001350790] Chr8:99861844 [GRCh38]
Chr8:100874072 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter) single nucleotide variant Cohen syndrome [RCV002537921]|not provided [RCV001281607] Chr8:99156725 [GRCh38]
Chr8:100168953 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1378del (p.Ile460fs) deletion Cohen syndrome [RCV003820311] Chr8:99135089 [GRCh38]
Chr8:100147317 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu) single nucleotide variant Cohen syndrome [RCV001338892]|VPS13B-related disorder [RCV003898320] Chr8:99699708 [GRCh38]
Chr8:100711936 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5809C>G (p.Pro1937Ala) single nucleotide variant Cohen syndrome [RCV001351058] Chr8:99642399 [GRCh38]
Chr8:100654627 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2380C>A (p.Pro794Thr) single nucleotide variant Cohen syndrome [RCV001327681] Chr8:99192922 [GRCh38]
Chr8:100205150 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.133G>A (p.Asp45Asn) single nucleotide variant Cohen syndrome [RCV001340499] Chr8:99013921 [GRCh38]
Chr8:100026149 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4519C>A (p.Gln1507Lys) single nucleotide variant Cohen syndrome [RCV001320368]|Inborn genetic diseases [RCV004035005] Chr8:99511398 [GRCh38]
Chr8:100523626 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5195T>C (p.Leu1732Pro) single nucleotide variant Cohen syndrome [RCV001349232] Chr8:99577608 [GRCh38]
Chr8:100589836 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3535A>T (p.Met1179Leu) single nucleotide variant Cohen syndrome [RCV001326603]|VPS13B-related disorder [RCV004727146] Chr8:99467503 [GRCh38]
Chr8:100479731 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr) single nucleotide variant Cohen syndrome [RCV001352167]|Inborn genetic diseases [RCV002547549]|VPS13B-related disorder [RCV004743422] Chr8:99577536 [GRCh38]
Chr8:100589764 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4255A>C (p.Ser1419Arg) single nucleotide variant Cohen syndrome [RCV001352275] Chr8:99507867 [GRCh38]
Chr8:100520095 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val) single nucleotide variant Cohen syndrome [RCV001301859] Chr8:99819509 [GRCh38]
Chr8:100831737 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10199C>G (p.Pro3400Arg) single nucleotide variant Cohen syndrome [RCV001300392] Chr8:99853588 [GRCh38]
Chr8:100865816 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1365G>A (p.Met455Ile) single nucleotide variant Cohen syndrome [RCV001294775]|VPS13B-related disorder [RCV004743385] Chr8:99135077 [GRCh38]
Chr8:100147305 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3578T>C (p.Leu1193Pro) single nucleotide variant Cohen syndrome [RCV001296576] Chr8:99467546 [GRCh38]
Chr8:100479774 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9745A>G (p.Ile3249Val) single nucleotide variant Cohen syndrome [RCV001309261]|VPS13B-related disorder [RCV003963207] Chr8:99835541 [GRCh38]
Chr8:100847769 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1769C>A (p.Ala590Glu) single nucleotide variant Cohen syndrome [RCV001302342] Chr8:99143091 [GRCh38]
Chr8:100155319 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) single nucleotide variant Cohen syndrome [RCV001331005]|Inborn genetic diseases [RCV002431939]|VPS13B-related disorder [RCV004743410] Chr8:99817680 [GRCh38]
Chr8:100829908 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3583A>G (p.Thr1195Ala) single nucleotide variant Cohen syndrome [RCV001331001] Chr8:99467551 [GRCh38]
Chr8:100479779 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val) single nucleotide variant Cohen syndrome [RCV001331003]|VPS13B-related disorder [RCV004743409] Chr8:99641860 [GRCh38]
Chr8:100654088 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5407A>G (p.Ile1803Val) single nucleotide variant Cohen syndrome [RCV001321725] Chr8:99641997 [GRCh38]
Chr8:100654225 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.709C>T (p.Arg237Cys) single nucleotide variant Cohen syndrome [RCV001314165]|VPS13B-related disorder [RCV004743398]|not provided [RCV004793413] Chr8:99111226 [GRCh38]
Chr8:100123454 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8695C>T (p.His2899Tyr) single nucleotide variant Cohen syndrome [RCV001295007] Chr8:99819485 [GRCh38]
Chr8:100831713 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2083G>A (p.Val695Met) single nucleotide variant Cohen syndrome [RCV001318716] Chr8:99156618 [GRCh38]
Chr8:100168846 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5714G>C (p.Arg1905Thr) single nucleotide variant Cohen syndrome [RCV001326476] Chr8:99642304 [GRCh38]
Chr8:100654532 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11521C>A (p.Pro3841Thr) single nucleotide variant Cohen syndrome [RCV001326494] Chr8:99871473 [GRCh38]
Chr8:100883701 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2116A>G (p.Met706Val) single nucleotide variant Cohen syndrome [RCV001341370] Chr8:99156651 [GRCh38]
Chr8:100168879 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu) single nucleotide variant Cohen syndrome [RCV001297081]|VPS13B-related disorder [RCV003416166] Chr8:99871474 [GRCh38]
Chr8:100883702 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.148-17A>G single nucleotide variant Cohen syndrome [RCV001376271] Chr8:99038406 [GRCh38]
Chr8:100050634 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4596T>G (p.Phe1532Leu) single nucleotide variant Cohen syndrome [RCV001297070] Chr8:99511475 [GRCh38]
Chr8:100523703 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6747_6752del (p.Gln2250_Val2251del) deletion Cohen syndrome [RCV001315673] Chr8:99720430..99720435 [GRCh38]
Chr8:100732658..100732663 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp) single nucleotide variant Cohen syndrome [RCV001298598]|VPS13B-related disorder [RCV003405514]|not provided [RCV002221622] Chr8:99853983 [GRCh38]
Chr8:100866211 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7466G>T (p.Arg2489Ile) single nucleotide variant Cohen syndrome [RCV001373235] Chr8:99778718 [GRCh38]
Chr8:100790946 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6190A>G (p.Met2064Val) single nucleotide variant Cohen syndrome [RCV001373295]|Inborn genetic diseases [RCV004037563]|VPS13B-related disorder [RCV004743440] Chr8:99699668 [GRCh38]
Chr8:100711896 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4740T>C (p.Ile1580=) single nucleotide variant Cohen syndrome [RCV001422765] Chr8:99521005 [GRCh38]
Chr8:100533233 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9696C>A (p.Ile3232=) single nucleotide variant Cohen syndrome [RCV001415007] Chr8:99835278 [GRCh38]
Chr8:100847506 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2137C>T (p.His713Tyr) single nucleotide variant Cohen syndrome [RCV001295514]|Inborn genetic diseases [RCV004967960] Chr8:99156672 [GRCh38]
Chr8:100168900 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp) single nucleotide variant Cohen syndrome [RCV001295252]|Inborn genetic diseases [RCV002437005]|VPS13B-related disorder [RCV004743387] Chr8:99861817 [GRCh38]
Chr8:100874045 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9237G>A (p.Gln3079=) single nucleotide variant Cohen syndrome [RCV001415175] Chr8:99823885 [GRCh38]
Chr8:100836113 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-23T>G single nucleotide variant Cohen syndrome [RCV001353221] Chr8:99467391 [GRCh38]
Chr8:100479619 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8443A>G (p.Met2815Val) single nucleotide variant Cohen syndrome [RCV001367606] Chr8:99818532 [GRCh38]
Chr8:100830760 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10611C>T (p.Ser3537=) single nucleotide variant Cohen syndrome [RCV001391925] Chr8:99854000 [GRCh38]
Chr8:100866228 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9776T>C (p.Ile3259Thr) single nucleotide variant Cohen syndrome [RCV001325143] Chr8:99835572 [GRCh38]
Chr8:100847800 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5768A>C (p.Asp1923Ala) single nucleotide variant Cohen syndrome [RCV001368954]|VPS13B-related disorder [RCV004728681] Chr8:99642358 [GRCh38]
Chr8:100654586 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7429+6C>T single nucleotide variant Cohen syndrome [RCV001367701] Chr8:99776962 [GRCh38]
Chr8:100789190 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3180T>C (p.Val1060=) single nucleotide variant Cohen syndrome [RCV001394979]|Inborn genetic diseases [RCV002322379]|VPS13B-related disorder [RCV004743451] Chr8:99431634 [GRCh38]
Chr8:100443862 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs) microsatellite Cohen syndrome [RCV001382738] Chr8:99192927..99192928 [GRCh38]
Chr8:100205155..100205156 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5734A>G (p.Ile1912Val) single nucleotide variant Cohen syndrome [RCV001361840] Chr8:99642324 [GRCh38]
Chr8:100654552 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7485A>G (p.Leu2495=) single nucleotide variant Cohen syndrome [RCV001412803] Chr8:99778737 [GRCh38]
Chr8:100790965 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7358C>T (p.Ser2453Phe) single nucleotide variant Cohen syndrome [RCV001363500] Chr8:99776885 [GRCh38]
Chr8:100789113 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs) deletion Cohen syndrome [RCV001336405] Chr8:99853946 [GRCh38]
Chr8:100866174 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2383A>T (p.Asn795Tyr) single nucleotide variant Cohen syndrome [RCV001325472] Chr8:99192925 [GRCh38]
Chr8:100205153 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3150A>G (p.Glu1050=) single nucleotide variant Cohen syndrome [RCV001414371]|VPS13B-related disorder [RCV003920903] Chr8:99431604 [GRCh38]
Chr8:100443832 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.147+3A>G single nucleotide variant Cohen syndrome [RCV001325520]|Inborn genetic diseases [RCV002395719] Chr8:99013938 [GRCh38]
Chr8:100026166 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1575T>C (p.Thr525=) single nucleotide variant Cohen syndrome [RCV001433416] Chr8:99136676 [GRCh38]
Chr8:100148904 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3000T>A (p.Ile1000=) single nucleotide variant Cohen syndrome [RCV001422721] Chr8:99391622 [GRCh38]
Chr8:100403850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2117T>C (p.Met706Thr) single nucleotide variant Cohen syndrome [RCV001376270] Chr8:99156652 [GRCh38]
Chr8:100168880 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7188A>G (p.Val2396=) single nucleotide variant Cohen syndrome [RCV001415002]|VPS13B-related disorder [RCV004743465] Chr8:99766911 [GRCh38]
Chr8:100779139 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8713A>C (p.Asn2905His) single nucleotide variant Cohen syndrome [RCV001316611]|VPS13B-related disorder [RCV003963212]|not provided [RCV001773632] Chr8:99819503 [GRCh38]
Chr8:100831731 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val) single nucleotide variant Cohen syndrome [RCV001338781] Chr8:99115811 [GRCh38]
Chr8:100128039 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.910A>G (p.Asn304Asp) single nucleotide variant Cohen syndrome [RCV001279380] Chr8:99115847 [GRCh38]
Chr8:100128075 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2434T>C (p.Tyr812His) single nucleotide variant Cohen syndrome [RCV001279384] Chr8:99192976 [GRCh38]
Chr8:100205204 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8965G>A (p.Gly2989Ser) single nucleotide variant Cohen syndrome [RCV001279775]|not specified [RCV004690059] Chr8:99820093 [GRCh38]
Chr8:100832321 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6658-13T>A single nucleotide variant Cohen syndrome [RCV001433592]|not provided [RCV001751764] Chr8:99720332 [GRCh38]
Chr8:100732560 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.918T>C (p.Asp306=) single nucleotide variant Cohen syndrome [RCV001415044] Chr8:99115855 [GRCh38]
Chr8:100128083 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100221800)_(100589881_?)del deletion Cohen syndrome [RCV001382978] Chr8:100221800..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6658-3A>T single nucleotide variant Cohen syndrome [RCV001307731]|not specified [RCV001820001] Chr8:99720342 [GRCh38]
Chr8:100732570 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3533C>G (p.Pro1178Arg) single nucleotide variant Cohen syndrome [RCV001358910]|VPS13B-related disorder [RCV004743425] Chr8:99467501 [GRCh38]
Chr8:100479729 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1652-7del deletion Cohen syndrome [RCV001414284] Chr8:99142967 [GRCh38]
Chr8:100155195 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6009T>C (p.Phe2003=) single nucleotide variant Cohen syndrome [RCV001423037] Chr8:99661454 [GRCh38]
Chr8:100673682 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100108530)_(100287492_?)del deletion Cohen syndrome [RCV001383164] Chr8:100108530..100287492 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100127918)_(100221906_?)del deletion Cohen syndrome [RCV001383165] Chr8:100127918..100221906 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9657T>C (p.Tyr3219=) single nucleotide variant Cohen syndrome [RCV001391749]|VPS13B-related disorder [RCV003938657] Chr8:99835239 [GRCh38]
Chr8:100847467 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1696T>C (p.Leu566=) single nucleotide variant Cohen syndrome [RCV001433168] Chr8:99143018 [GRCh38]
Chr8:100155246 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-1delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT indel not provided [RCV001355582] Chr8:99832368 [GRCh38]
Chr8:100844596 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2618T>C (p.Met873Thr) single nucleotide variant Cohen syndrome [RCV001369389] Chr8:99274300 [GRCh38]
Chr8:100286528 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1527del (p.Arg510fs) deletion Cohen syndrome [RCV001383186] Chr8:99135697 [GRCh38]
Chr8:100147925 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11316T>G (p.Gly3772=) single nucleotide variant Cohen syndrome [RCV001413804] Chr8:99868389 [GRCh38]
Chr8:100880617 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+10T>C single nucleotide variant Cohen syndrome [RCV001396050] Chr8:99575794 [GRCh38]
Chr8:100588022 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter) single nucleotide variant Cohen syndrome [RCV001382926] Chr8:99699793 [GRCh38]
Chr8:100712021 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.855C>T (p.Tyr285=) single nucleotide variant Cohen syndrome [RCV001392663]|VPS13B-related disorder [RCV004743450] Chr8:99115792 [GRCh38]
Chr8:100128020 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11882C>T (p.Pro3961Leu) single nucleotide variant Cohen syndrome [RCV001303389] Chr8:99875554 [GRCh38]
Chr8:100887782 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11215+8G>T single nucleotide variant Cohen syndrome [RCV001360331] Chr8:99861954 [GRCh38]
Chr8:100874182 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.203A>G (p.His68Arg) single nucleotide variant Cohen syndrome [RCV001370034] Chr8:99038478 [GRCh38]
Chr8:100050706 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9796C>T (p.His3266Tyr) single nucleotide variant not provided [RCV001310638] Chr8:99835592 [GRCh38]
Chr8:100847820 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9468G>A (p.Gln3156=) single nucleotide variant Cohen syndrome [RCV001421815] Chr8:99832506 [GRCh38]
Chr8:100844734 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1118C>T (p.Ser373Leu) single nucleotide variant Cohen syndrome [RCV001304320]|VPS13B-related disorder [RCV003963203] Chr8:99121357 [GRCh38]
Chr8:100133585 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=) single nucleotide variant Cohen syndrome [RCV001373489] Chr8:99720359 [GRCh38]
Chr8:100732587 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7365C>T (p.Cys2455=) single nucleotide variant Cohen syndrome [RCV001414099] Chr8:99776892 [GRCh38]
Chr8:100789120 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) deletion Cohen syndrome [RCV001376541] Chr8:99156708..99156730 [GRCh38]
Chr8:100168936..100168958 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100182257)_(100479872_?)del deletion Cohen syndrome [RCV001382977] Chr8:100182257..100479872 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100286406)_(100874194_?)del deletion Cohen syndrome [RCV001382979] Chr8:100286406..100874194 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100396426)_(100403942_?)del deletion Cohen syndrome [RCV001382980] Chr8:100396426..100403942 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100396426)_(100523750_?)del deletion Cohen syndrome [RCV001382981] Chr8:100396426..100523750 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs) deletion Cohen syndrome [RCV001383251] Chr8:99859416 [GRCh38]
Chr8:100871644 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8550A>G (p.Pro2850=) single nucleotide variant Cohen syndrome [RCV001415345] Chr8:99818817 [GRCh38]
Chr8:100831045 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10116A>G (p.Ala3372=) single nucleotide variant Cohen syndrome [RCV001397563] Chr8:99853505 [GRCh38]
Chr8:100865733 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys) single nucleotide variant Cohen syndrome [RCV001330793] Chr8:99431637 [GRCh38]
Chr8:100443865 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8741C>T (p.Pro2914Leu) single nucleotide variant Cohen syndrome [RCV001373639] Chr8:99819531 [GRCh38]
Chr8:100831759 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1844-14C>G single nucleotide variant Cohen syndrome [RCV001414884] Chr8:99147827 [GRCh38]
Chr8:100160055 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3345C>T (p.Val1115=) single nucleotide variant Cohen syndrome [RCV001397601] Chr8:99442535 [GRCh38]
Chr8:100454763 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11649C>G (p.Ala3883=) single nucleotide variant Cohen syndrome [RCV001392773] Chr8:99871601 [GRCh38]
Chr8:100883829 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1366del (p.Cys456fs) deletion Cohen syndrome [RCV001383292] Chr8:99135078 [GRCh38]
Chr8:100147306 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile) single nucleotide variant Cohen syndrome [RCV001331002] Chr8:99481599 [GRCh38]
Chr8:100493827 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10444A>G (p.Ile3482Val) single nucleotide variant Cohen syndrome [RCV001371871] Chr8:99853833 [GRCh38]
Chr8:100866061 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4205T>G (p.Leu1402Arg) single nucleotide variant Cohen syndrome [RCV001373787] Chr8:99507817 [GRCh38]
Chr8:100520045 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.580+1G>T single nucleotide variant Cohen syndrome [RCV001376194] Chr8:99103121 [GRCh38]
Chr8:100115349 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4950-18T>G single nucleotide variant Cohen syndrome [RCV001422900] Chr8:99575640 [GRCh38]
Chr8:100587868 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2184T>C (p.Tyr728=) single nucleotide variant Cohen syndrome [RCV001433783] Chr8:99156719 [GRCh38]
Chr8:100168947 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7929C>T (p.His2643=) single nucleotide variant Cohen syndrome [RCV001415424] Chr8:99784464 [GRCh38]
Chr8:100796692 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg) single nucleotide variant Cohen syndrome [RCV001304058]|not provided [RCV001572907] Chr8:99642492 [GRCh38]
Chr8:100654720 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3871G>A (p.Gly1291Arg) single nucleotide variant Cohen syndrome [RCV001337667] Chr8:99501687 [GRCh38]
Chr8:100513915 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100519978)_(100533258_?)del deletion Cohen syndrome [RCV001323794] Chr8:100519978..100533258 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100025997)_(100050814_?)dup duplication Cohen syndrome [RCV001323795] Chr8:100025997..100050814 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5347A>G (p.Ile1783Val) single nucleotide variant Cohen syndrome [RCV001364109] Chr8:99641937 [GRCh38]
Chr8:100654165 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100155202)_(100221801_?)del deletion Cohen syndrome [RCV001309463] Chr8:100155202..100221801 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100025997)_(100887914_?)dup duplication Cohen syndrome [RCV001309464] Chr8:100025997..100887914 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7429+3A>G single nucleotide variant Cohen syndrome [RCV001341925] Chr8:99776959 [GRCh38]
Chr8:100789187 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3853A>G (p.Ile1285Val) single nucleotide variant Cohen syndrome [RCV001322865] Chr8:99481785 [GRCh38]
Chr8:100494013 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10581C>T (p.Ser3527=) single nucleotide variant Cohen syndrome [RCV001323865] Chr8:99853970 [GRCh38]
Chr8:100866198 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7547C>G (p.Ser2516Cys) single nucleotide variant Cohen syndrome [RCV001369406] Chr8:99778799 [GRCh38]
Chr8:100791027 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6048G>A (p.Ala2016=) single nucleotide variant Cohen syndrome [RCV001350881]|VPS13B-related disorder [RCV003399143] Chr8:99699526 [GRCh38]
Chr8:100711754 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8866T>G (p.Leu2956Val) single nucleotide variant Cohen syndrome [RCV001339791] Chr8:99819994 [GRCh38]
Chr8:100832222 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10414T>C (p.Tyr3472His) single nucleotide variant Cohen syndrome [RCV001344783] Chr8:99853803 [GRCh38]
Chr8:100866031 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2959G>A (p.Val987Ile) single nucleotide variant Cohen syndrome [RCV001344804] Chr8:99391581 [GRCh38]
Chr8:100403809 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-3dup duplication not provided [RCV001355938] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3515C>T (p.Thr1172Ile) single nucleotide variant not provided [RCV001356545] Chr8:99467483 [GRCh38]
Chr8:100479711 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9584G>T (p.Gly3195Val) single nucleotide variant Cohen syndrome [RCV001351945] Chr8:99832622 [GRCh38]
Chr8:100844850 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6635A>C (p.Asp2212Ala) single nucleotide variant Cohen syndrome [RCV001300079] Chr8:99717351 [GRCh38]
Chr8:100729579 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4663G>T (p.Val1555Phe) single nucleotide variant Cohen syndrome [RCV001342140] Chr8:99520928 [GRCh38]
Chr8:100533156 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11653C>T (p.Pro3885Ser) single nucleotide variant Cohen syndrome [RCV001345879] Chr8:99871605 [GRCh38]
Chr8:100883833 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val) single nucleotide variant Cohen syndrome [RCV001370098]|VPS13B-related disorder [RCV003426060] Chr8:99661476 [GRCh38]
Chr8:100673704 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val) single nucleotide variant Cohen syndrome [RCV001336404] Chr8:99853773 [GRCh38]
Chr8:100866001 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys) single nucleotide variant Cohen syndrome [RCV001336408] Chr8:99784469 [GRCh38]
Chr8:100796697 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTTT (p.Tyr3111fs) insertion Cohen syndrome [RCV001336409] Chr8:99832368..99832369 [GRCh38]
Chr8:100844596..100844597 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6260G>A (p.Gly2087Asp) single nucleotide variant Cohen syndrome [RCV001342231] Chr8:99699738 [GRCh38]
Chr8:100711966 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6609A>C (p.Glu2203Asp) single nucleotide variant Cohen syndrome [RCV001324054] Chr8:99717325 [GRCh38]
Chr8:100729553 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn) single nucleotide variant Cohen syndrome [RCV001346751]|not provided [RCV004692606] Chr8:99481771 [GRCh38]
Chr8:100493999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1907T>G (p.Ile636Ser) single nucleotide variant Cohen syndrome [RCV001303833] Chr8:99147904 [GRCh38]
Chr8:100160132 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1357A>G (p.Arg453Gly) single nucleotide variant Cohen syndrome [RCV001305572] Chr8:99135069 [GRCh38]
Chr8:100147297 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5950G>A (p.Val1984Ile) single nucleotide variant Cohen syndrome [RCV001338766] Chr8:99661395 [GRCh38]
Chr8:100673623 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10042A>G (p.Ile3348Val) single nucleotide variant Cohen syndrome [RCV001343887]|VPS13B-related disorder [RCV003393988] Chr8:99848875 [GRCh38]
Chr8:100861103 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1206A>G (p.Lys402=) single nucleotide variant Cohen syndrome [RCV001372011] Chr8:99121445 [GRCh38]
Chr8:100133673 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7624GTG[1] (p.Val2543del) microsatellite Cohen syndrome [RCV001361137] Chr8:99778876..99778878 [GRCh38]
Chr8:100791104..100791106 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6336A>T (p.Gln2112His) single nucleotide variant Cohen syndrome [RCV001365295]|VPS13B-related disorder [RCV004743434] Chr8:99699814 [GRCh38]
Chr8:100712042 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5735T>C (p.Ile1912Thr) single nucleotide variant Cohen syndrome [RCV001352236] Chr8:99642325 [GRCh38]
Chr8:100654553 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11030A>C (p.Lys3677Thr) single nucleotide variant Cohen syndrome [RCV001322007] Chr8:99859466 [GRCh38]
Chr8:100871694 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2927T>C (p.Met976Thr) single nucleotide variant Cohen syndrome [RCV001372218] Chr8:99384310 [GRCh38]
Chr8:100396538 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2552G>A (p.Gly851Asp) single nucleotide variant Cohen syndrome [RCV001368618] Chr8:99274234 [GRCh38]
Chr8:100286462 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9406C>T (p.Leu3136Phe) single nucleotide variant Cohen syndrome [RCV001324247] Chr8:99832444 [GRCh38]
Chr8:100844672 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2956C>T (p.Leu986Phe) single nucleotide variant Cohen syndrome [RCV001361416]|VPS13B-related disorder [RCV004743431] Chr8:99391578 [GRCh38]
Chr8:100403806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+3A>T single nucleotide variant Cohen syndrome [RCV001279388] Chr8:99556656 [GRCh38]
Chr8:100568884 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly) single nucleotide variant Cohen syndrome [RCV001279776]|VPS13B-related disorder [RCV004743382]|not provided [RCV004769997] Chr8:99823890 [GRCh38]
Chr8:100836118 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10115C>T (p.Ala3372Val) single nucleotide variant Cohen syndrome [RCV001279780] Chr8:99853504 [GRCh38]
Chr8:100865732 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9283T>G (p.Phe3095Val) single nucleotide variant Cohen syndrome [RCV001338946] Chr8:99823931 [GRCh38]
Chr8:100836159 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8983C>T (p.Pro2995Ser) single nucleotide variant Cohen syndrome [RCV001319041]|not specified [RCV004699305] Chr8:99820111 [GRCh38]
Chr8:100832339 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val) single nucleotide variant Cohen syndrome [RCV001320589]|not provided [RCV005005169] Chr8:99766930 [GRCh38]
Chr8:100779158 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6808A>T (p.Ser2270Cys) single nucleotide variant Cohen syndrome [RCV001344148] Chr8:99720495 [GRCh38]
Chr8:100732723 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8980C>T (p.Pro2994Ser) single nucleotide variant Cohen syndrome [RCV001322225] Chr8:99820108 [GRCh38]
Chr8:100832336 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr) single nucleotide variant Cohen syndrome [RCV001298312]|VPS13B-related disorder [RCV004727095] Chr8:99854241 [GRCh38]
Chr8:100866469 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6022A>T (p.Ile2008Phe) single nucleotide variant Cohen syndrome [RCV001279773]|not specified [RCV004587106] Chr8:99661467 [GRCh38]
Chr8:100673695 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5885T>C (p.Val1962Ala) single nucleotide variant Cohen syndrome [RCV001300628]|Inborn genetic diseases [RCV004679054] Chr8:99642475 [GRCh38]
Chr8:100654703 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7429+4C>A single nucleotide variant Cohen syndrome [RCV001338217] Chr8:99776960 [GRCh38]
Chr8:100789188 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7963G>C (p.Gly2655Arg) single nucleotide variant Cohen syndrome [RCV001319248]|VPS13B-related disorder [RCV004743401] Chr8:99809396 [GRCh38]
Chr8:100821624 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10351G>A (p.Ala3451Thr) single nucleotide variant Cohen syndrome [RCV001341298] Chr8:99853740 [GRCh38]
Chr8:100865968 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly) single nucleotide variant Cohen syndrome [RCV001374356]|VPS13B-related disorder [RCV004743441]|not provided [RCV003481100] Chr8:99481624 [GRCh38]
Chr8:100493852 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-5_9331-3dup duplication not provided [RCV001357047] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6962_6963delinsCG (p.Val2321Ala) indel Cohen syndrome [RCV001307068] Chr8:99720959..99720960 [GRCh38]
Chr8:100733187..100733188 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11240A>G (p.Gln3747Arg) single nucleotide variant Cohen syndrome [RCV001323460]|VPS13B-related disorder [RCV004743405] Chr8:99868313 [GRCh38]
Chr8:100880541 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2732A>G (p.Asn911Ser) single nucleotide variant Cohen syndrome [RCV001345359] Chr8:99275162 [GRCh38]
Chr8:100287390 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8068G>A (p.Val2690Ile) single nucleotide variant Cohen syndrome [RCV001361888] Chr8:99809501 [GRCh38]
Chr8:100821729 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7663T>G (p.Ser2555Ala) single nucleotide variant Cohen syndrome [RCV001359491]|VPS13B-related disorder [RCV004743427] Chr8:99778915 [GRCh38]
Chr8:100791143 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3832A>C (p.Thr1278Pro) single nucleotide variant Cohen syndrome [RCV001297567] Chr8:99481764 [GRCh38]
Chr8:100493992 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7230T>A (p.Asn2410Lys) single nucleotide variant Cohen syndrome [RCV001339278] Chr8:99766953 [GRCh38]
Chr8:100779181 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6298T>C (p.Trp2100Arg) single nucleotide variant Cohen syndrome [RCV001309136] Chr8:99699776 [GRCh38]
Chr8:100712004 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6248C>T (p.Pro2083Leu) single nucleotide variant Cohen syndrome [RCV001347973] Chr8:99699726 [GRCh38]
Chr8:100711954 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5774A>T (p.Gln1925Leu) single nucleotide variant Cohen syndrome [RCV001368196] Chr8:99642364 [GRCh38]
Chr8:100654592 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2555C>T (p.Ser852Leu) single nucleotide variant Cohen syndrome [RCV001368248]|Inborn genetic diseases [RCV004968138] Chr8:99274237 [GRCh38]
Chr8:100286465 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile) single nucleotide variant Cohen syndrome [RCV001306142]|VPS13B-related disorder [RCV004743392] Chr8:99776828 [GRCh38]
Chr8:100789056 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu) single nucleotide variant Cohen syndrome [RCV001331000] Chr8:99442525 [GRCh38]
Chr8:100454753 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10722C>G (p.Ile3574Met) single nucleotide variant Cohen syndrome [RCV001309155] Chr8:99854111 [GRCh38]
Chr8:100866339 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2334-3C>G single nucleotide variant Cohen syndrome [RCV001340272] Chr8:99192873 [GRCh38]
Chr8:100205101 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3376G>A (p.Ala1126Thr) single nucleotide variant Cohen syndrome [RCV001299671] Chr8:99442566 [GRCh38]
Chr8:100454794 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10924A>G (p.Ile3642Val) single nucleotide variant Cohen syndrome [RCV001321224] Chr8:99859360 [GRCh38]
Chr8:100871588 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742+3A>G single nucleotide variant Cohen syndrome [RCV001344549]|VPS13B-related disorder [RCV004743414] Chr8:99835327 [GRCh38]
Chr8:100847555 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5076+3T>C single nucleotide variant Cohen syndrome [RCV001363848] Chr8:99575787 [GRCh38]
Chr8:100588015 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1603G>A (p.Ala535Thr) single nucleotide variant Cohen syndrome [RCV001363859] Chr8:99136704 [GRCh38]
Chr8:100148932 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly) single nucleotide variant Cohen syndrome [RCV001308371]|Inborn genetic diseases [RCV002418937]|VPS13B-related disorder [RCV004743394] Chr8:99809456 [GRCh38]
Chr8:100821684 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2542A>G (p.Thr848Ala) single nucleotide variant Cohen syndrome [RCV001299739]|Inborn genetic diseases [RCV004036147] Chr8:99274224 [GRCh38]
Chr8:100286452 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8505T>G (p.His2835Gln) single nucleotide variant Cohen syndrome [RCV001343315] Chr8:99818772 [GRCh38]
Chr8:100831000 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3662C>T (p.Pro1221Leu) single nucleotide variant Cohen syndrome [RCV001321344] Chr8:99467630 [GRCh38]
Chr8:100479858 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6269T>C (p.Val2090Ala) single nucleotide variant Cohen syndrome [RCV001344581] Chr8:99699747 [GRCh38]
Chr8:100711975 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr) single nucleotide variant Cohen syndrome [RCV001322724]|VPS13B-related disorder [RCV003898309] Chr8:99853713 [GRCh38]
Chr8:100865941 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3000T>G (p.Ile1000Met) single nucleotide variant Cohen syndrome [RCV001323717] Chr8:99391622 [GRCh38]
Chr8:100403850 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8161G>A (p.Val2721Ile) single nucleotide variant Cohen syndrome [RCV001364467]|VPS13B-related disorder [RCV004743432]|not provided [RCV004762124] Chr8:99817603 [GRCh38]
Chr8:100829831 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1396T>C (p.Phe466Leu) single nucleotide variant Cohen syndrome [RCV001364488] Chr8:99135108 [GRCh38]
Chr8:100147336 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8756A>G (p.Gln2919Arg) single nucleotide variant Cohen syndrome [RCV001364534] Chr8:99819546 [GRCh38]
Chr8:100831774 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10578C>G (p.Asn3526Lys) single nucleotide variant Cohen syndrome [RCV001304789] Chr8:99853967 [GRCh38]
Chr8:100866195 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10579A>C (p.Ser3527Arg) single nucleotide variant Cohen syndrome [RCV001324742] Chr8:99853968 [GRCh38]
Chr8:100866196 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) single nucleotide variant Cohen syndrome [RCV001339961]|Inborn genetic diseases [RCV002546887]|VPS13B-related disorder [RCV004743413]|not provided [RCV002261346]|not specified [RCV001820037] Chr8:99111121 [GRCh38]
Chr8:100123349 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10140C>G (p.His3380Gln) single nucleotide variant Cohen syndrome [RCV001370882] Chr8:99853529 [GRCh38]
Chr8:100865757 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4256A>G (p.Gln1419Arg) single nucleotide variant Cohen syndrome [RCV001314571] Chr8:99511135 [GRCh38]
Chr8:100523363 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3494C>A (p.Thr1165Asn) single nucleotide variant Cohen syndrome [RCV001318071] Chr8:99467462 [GRCh38]
Chr8:100479690 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6052G>A (p.Val2018Ile) single nucleotide variant Cohen syndrome [RCV001370915] Chr8:99699530 [GRCh38]
Chr8:100711758 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5624T>A (p.Leu1875His) single nucleotide variant Cohen syndrome [RCV001360019] Chr8:99642214 [GRCh38]
Chr8:100654442 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) single nucleotide variant Cohen syndrome [RCV001336406]|Inborn genetic diseases [RCV002546775] Chr8:99854184 [GRCh38]
Chr8:100866412 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.8382C>T (p.Ser2794=) single nucleotide variant Cohen syndrome [RCV001396033] Chr8:99818471 [GRCh38]
Chr8:100830699 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7299A>G (p.Pro2433=) single nucleotide variant Cohen syndrome [RCV001395489] Chr8:99776826 [GRCh38]
Chr8:100789054 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His) single nucleotide variant Cohen syndrome [RCV001309390]|Inborn genetic diseases [RCV004679064] Chr8:99391653 [GRCh38]
Chr8:100403881 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8628A>G (p.Glu2876=) single nucleotide variant Cohen syndrome [RCV001316410] Chr8:99819418 [GRCh38]
Chr8:100831646 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7326T>A (p.Val2442=) single nucleotide variant Cohen syndrome [RCV001396236] Chr8:99776853 [GRCh38]
Chr8:100789081 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-13T>G single nucleotide variant Cohen syndrome [RCV001395570] Chr8:99809362 [GRCh38]
Chr8:100821590 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2943G>T (p.Val981=) single nucleotide variant Cohen syndrome [RCV001412809] Chr8:99391565 [GRCh38]
Chr8:100403793 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2709C>T (p.Asp903=) single nucleotide variant Cohen syndrome [RCV001414143] Chr8:99275139 [GRCh38]
Chr8:100287367 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.324C>A (p.Thr108=) single nucleotide variant Cohen syndrome [RCV001414169] Chr8:99096344 [GRCh38]
Chr8:100108572 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2109A>C (p.Ser703=) single nucleotide variant Cohen syndrome [RCV001396412] Chr8:99156644 [GRCh38]
Chr8:100168872 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.100246250_100460500del deletion Cohen syndrome [RCV001353222] Chr8:100246250..100460500 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4749A>C (p.Arg1583Ser) single nucleotide variant Cohen syndrome [RCV001315101] Chr8:99556453 [GRCh38]
Chr8:100568681 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11707G>A (p.Val3903Met) single nucleotide variant Cohen syndrome [RCV001318809] Chr8:99871659 [GRCh38]
Chr8:100883887 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.581-17T>C single nucleotide variant Cohen syndrome [RCV001394848] Chr8:99111081 [GRCh38]
Chr8:100123309 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1974C>T (p.Asn658=) single nucleotide variant Cohen syndrome [RCV001279383] Chr8:99147971 [GRCh38]
Chr8:100160199 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8362-6G>A single nucleotide variant Cohen syndrome [RCV001413371] Chr8:99818445 [GRCh38]
Chr8:100830673 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3372T>G (p.Ile1124Met) single nucleotide variant Cohen syndrome [RCV001279385] Chr8:99442562 [GRCh38]
Chr8:100454790 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4137T>C (p.Asn1379=) single nucleotide variant Cohen syndrome [RCV001279386] Chr8:99502930 [GRCh38]
Chr8:100515158 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=) single nucleotide variant Cohen syndrome [RCV001279772]|VPS13B-related disorder [RCV003908494] Chr8:99642092 [GRCh38]
Chr8:100654320 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7737T>A (p.His2579Gln) single nucleotide variant Cohen syndrome [RCV001279774] Chr8:99778989 [GRCh38]
Chr8:100791217 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe) single nucleotide variant Cohen syndrome [RCV001279777] Chr8:99832378 [GRCh38]
Chr8:100844606 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) single nucleotide variant Cohen syndrome [RCV001365368]|Inborn genetic diseases [RCV002550053] Chr8:99147885 [GRCh38]
Chr8:100160113 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10270T>G (p.Cys3424Gly) single nucleotide variant Cohen syndrome [RCV001365375] Chr8:99853659 [GRCh38]
Chr8:100865887 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4020A>G (p.Pro1340=) single nucleotide variant Cohen syndrome [RCV001396471] Chr8:99501836 [GRCh38]
Chr8:100514064 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9184-9A>G single nucleotide variant Cohen syndrome [RCV001395098] Chr8:99823823 [GRCh38]
Chr8:100836051 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6513T>C (p.Ser2171=) single nucleotide variant Cohen syndrome [RCV001395163] Chr8:99717229 [GRCh38]
Chr8:100729457 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10082C>A (p.Thr3361Lys) single nucleotide variant Cohen syndrome [RCV001341226] Chr8:99853471 [GRCh38]
Chr8:100865699 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6220A>G (p.Lys2074Glu) single nucleotide variant Cohen syndrome [RCV001371942] Chr8:99699698 [GRCh38]
Chr8:100711926 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9541G>A (p.Val3181Ile) single nucleotide variant Cohen syndrome [RCV001372036]|VPS13B-related disorder [RCV003399182] Chr8:99832579 [GRCh38]
Chr8:100844807 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9786G>A (p.Glu3262=) single nucleotide variant Cohen syndrome [RCV001395911]|Inborn genetic diseases [RCV002384566]|VPS13B-related disorder [RCV003928880] Chr8:99835582 [GRCh38]
Chr8:100847810 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8229A>G (p.Lys2743=) single nucleotide variant Cohen syndrome [RCV001395962] Chr8:99817671 [GRCh38]
Chr8:100829899 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11305G>A (p.Val3769Ile) single nucleotide variant Cohen syndrome [RCV001361276] Chr8:99868378 [GRCh38]
Chr8:100880606 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9322G>A (p.Gly3108Arg) single nucleotide variant Cohen syndrome [RCV001352085] Chr8:99823970 [GRCh38]
Chr8:100836198 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1921A>G (p.Thr641Ala) single nucleotide variant Cohen syndrome [RCV001369208] Chr8:99147918 [GRCh38]
Chr8:100160146 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=) single nucleotide variant Cohen syndrome [RCV002070227]|VPS13B-related disorder [RCV004743423]|not provided [RCV001355606] Chr8:99820009 [GRCh38]
Chr8:100832237 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1425+8C>T single nucleotide variant Cohen syndrome [RCV001395745]|VPS13B-related disorder [RCV004743453] Chr8:99135145 [GRCh38]
Chr8:100147373 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn) single nucleotide variant Cohen syndrome [RCV001369390]|VPS13B-related disorder [RCV003416283] Chr8:99871620 [GRCh38]
Chr8:100883848 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=) single nucleotide variant Cohen syndrome [RCV001494439]|Inborn genetic diseases [RCV002421133] Chr8:99170065 [GRCh38]
Chr8:100182293 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.437G>A (p.Arg146Gln) single nucleotide variant not provided [RCV001507740] Chr8:99102977 [GRCh38]
Chr8:100115205 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8343G>A (p.Glu2781=) single nucleotide variant Cohen syndrome [RCV001395085] Chr8:99817785 [GRCh38]
Chr8:100830013 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr) single nucleotide variant Cohen syndrome [RCV001331004] Chr8:99661425 [GRCh38]
Chr8:100673653 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8435A>T (p.Gln2812Leu) single nucleotide variant Cohen syndrome [RCV001315823] Chr8:99818524 [GRCh38]
Chr8:100830752 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11757C>T (p.Val3919=) single nucleotide variant Cohen syndrome [RCV001413624]|not provided [RCV004720903] Chr8:99875429 [GRCh38]
Chr8:100887657 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=) single nucleotide variant Cohen syndrome [RCV001365693] Chr8:99854165 [GRCh38]
Chr8:100866393 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9976G>A (p.Val3326Met) single nucleotide variant Cohen syndrome [RCV001365775] Chr8:99848809 [GRCh38]
Chr8:100861037 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8446-8T>A single nucleotide variant Cohen syndrome [RCV001394617]|VPS13B-related disorder [RCV004728705] Chr8:99818705 [GRCh38]
Chr8:100830933 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.7779G>A (p.Gln2593=) single nucleotide variant Cohen syndrome [RCV001303810] Chr8:99779031 [GRCh38]
Chr8:100791259 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.690C>T (p.Tyr230=) single nucleotide variant Cohen syndrome [RCV001421752] Chr8:99111207 [GRCh38]
Chr8:100123435 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7603A>C (p.Arg2535=) single nucleotide variant Cohen syndrome [RCV001421763] Chr8:99778855 [GRCh38]
Chr8:100791083 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9968A>G (p.Tyr3323Cys) single nucleotide variant Cohen syndrome [RCV001298886] Chr8:99848801 [GRCh38]
Chr8:100861029 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10714G>A (p.Val3572Ile) single nucleotide variant Cohen syndrome [RCV001306850]|VPS13B-related disorder [RCV003426036] Chr8:99854103 [GRCh38]
Chr8:100866331 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2281C>T (p.Pro761Ser) single nucleotide variant Cohen syndrome [RCV001299136] Chr8:99170111 [GRCh38]
Chr8:100182339 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9943-4G>T single nucleotide variant Cohen syndrome [RCV001472950]|VPS13B-related disorder [RCV003980394] Chr8:99848772 [GRCh38]
Chr8:100861000 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3291T>C (p.Pro1097=) single nucleotide variant Cohen syndrome [RCV001505502] Chr8:99442481 [GRCh38]
Chr8:100454709 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7731A>G (p.Gly2577=) single nucleotide variant Cohen syndrome [RCV001438264] Chr8:99778983 [GRCh38]
Chr8:100791211 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs) deletion Cohen syndrome [RCV001387057] Chr8:99391690 [GRCh38]
Chr8:100403918 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11811G>A (p.Lys3937=) single nucleotide variant Cohen syndrome [RCV001404424] Chr8:99875483 [GRCh38]
Chr8:100887711 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8926C>T (p.Leu2976=) single nucleotide variant Cohen syndrome [RCV001424433] Chr8:99820054 [GRCh38]
Chr8:100832282 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100781239)_100789156del deletion Cohen syndrome [RCV001377511]   likely pathogenic
NM_152564.5(VPS13B):c.8973T>A (p.Ile2991=) single nucleotide variant Cohen syndrome [RCV001461765]|VPS13B-related disorder [RCV004743507] Chr8:99820101 [GRCh38]
Chr8:100832329 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3669C>G (p.Val1223=) single nucleotide variant Cohen syndrome [RCV001485420] Chr8:99481601 [GRCh38]
Chr8:100493829 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9633T>C (p.Tyr3211=) single nucleotide variant Cohen syndrome [RCV001404581] Chr8:99835215 [GRCh38]
Chr8:100847443 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs) duplication Cohen syndrome [RCV001389508] Chr8:99871675..99871676 [GRCh38]
Chr8:100883903..100883904 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.763-10C>T single nucleotide variant Cohen syndrome [RCV001487207]|VPS13B-related disorder [RCV003900685] Chr8:99115690 [GRCh38]
Chr8:100127918 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-12T>G single nucleotide variant Cohen syndrome [RCV001473248] Chr8:99135003 [GRCh38]
Chr8:100147231 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10539A>G (p.Val3513=) single nucleotide variant Cohen syndrome [RCV001475114]|VPS13B-related disorder [RCV003946233] Chr8:99853928 [GRCh38]
Chr8:100866156 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2209-14T>C single nucleotide variant Cohen syndrome [RCV001492344] Chr8:99170025 [GRCh38]
Chr8:100182253 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7659A>G (p.Ala2553=) single nucleotide variant Cohen syndrome [RCV001499379] Chr8:99778911 [GRCh38]
Chr8:100791139 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4365C>G (p.Gly1455=) single nucleotide variant Cohen syndrome [RCV001499409] Chr8:99511244 [GRCh38]
Chr8:100523472 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10725C>T (p.His3575=) single nucleotide variant Cohen syndrome [RCV001482405]|VPS13B-related disorder [RCV003946255] Chr8:99854114 [GRCh38]
Chr8:100866342 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11055A>G (p.Thr3685=) single nucleotide variant Cohen syndrome [RCV001468333] Chr8:99861786 [GRCh38]
Chr8:100874014 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8460T>C (p.Pro2820=) single nucleotide variant Cohen syndrome [RCV001450796]|not provided [RCV004706171] Chr8:99818727 [GRCh38]
Chr8:100830955 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.372A>G (p.Arg124=) single nucleotide variant Cohen syndrome [RCV001424911] Chr8:99096392 [GRCh38]
Chr8:100108620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9579C>T (p.Pro3193=) single nucleotide variant Cohen syndrome [RCV001441126]|VPS13B-related disorder [RCV004743488] Chr8:99832617 [GRCh38]
Chr8:100844845 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-9G>C single nucleotide variant Cohen syndrome [RCV001404841] Chr8:99135006 [GRCh38]
Chr8:100147234 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10605C>T (p.His3535=) single nucleotide variant Cohen syndrome [RCV001441259]|VPS13B-related disorder [RCV003900514] Chr8:99853994 [GRCh38]
Chr8:100866222 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6063T>C (p.Asp2021=) single nucleotide variant Cohen syndrome [RCV001478394] Chr8:99699541 [GRCh38]
Chr8:100711769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=) single nucleotide variant Cohen syndrome [RCV001461221]|VPS13B-related disorder [RCV004743506]|not provided [RCV001699548] Chr8:99871667 [GRCh38]
Chr8:100883895 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6531C>T (p.Arg2177=) single nucleotide variant Cohen syndrome [RCV001457414] Chr8:99717247 [GRCh38]
Chr8:100729475 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8793-8T>C single nucleotide variant Cohen syndrome [RCV001504360] Chr8:99819913 [GRCh38]
Chr8:100832141 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6723T>G (p.Leu2241=) single nucleotide variant Cohen syndrome [RCV001484262] Chr8:99720410 [GRCh38]
Chr8:100732638 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7848A>G (p.Thr2616=) single nucleotide variant Cohen syndrome [RCV001484329]|VPS13B-related disorder [RCV004743522] Chr8:99784383 [GRCh38]
Chr8:100796611 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1651+8C>T single nucleotide variant Cohen syndrome [RCV001468591] Chr8:99136760 [GRCh38]
Chr8:100148988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8070T>C (p.Val2690=) single nucleotide variant Cohen syndrome [RCV001495961] Chr8:99809503 [GRCh38]
Chr8:100821731 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7684C>T (p.Leu2562=) single nucleotide variant Cohen syndrome [RCV001478728] Chr8:99778936 [GRCh38]
Chr8:100791164 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11313G>T (p.Ser3771=) single nucleotide variant Cohen syndrome [RCV001457499] Chr8:99868386 [GRCh38]
Chr8:100880614 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1491A>C (p.Ser497=) single nucleotide variant Cohen syndrome [RCV001504639]|Inborn genetic diseases [RCV002388556]|VPS13B-related disorder [RCV003956118] Chr8:99135661 [GRCh38]
Chr8:100147889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-6T>C single nucleotide variant Cohen syndrome [RCV001487641] Chr8:99859298 [GRCh38]
Chr8:100871526 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8362-5_8362-4del microsatellite Cohen syndrome [RCV001487783] Chr8:99818444..99818445 [GRCh38]
Chr8:100830672..100830673 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) single nucleotide variant Cohen syndrome [RCV001510384]|Inborn genetic diseases [RCV002377886]|VPS13B-related disorder [RCV003980471] Chr8:99871496 [GRCh38]
Chr8:100883724 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.2127A>G (p.Glu709=) single nucleotide variant Cohen syndrome [RCV001496397] Chr8:99156662 [GRCh38]
Chr8:100168890 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-13T>G single nucleotide variant Cohen syndrome [RCV001482790] Chr8:99192863 [GRCh38]
Chr8:100205091 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11442G>A (p.Gln3814=) single nucleotide variant Cohen syndrome [RCV001458745] Chr8:99870834 [GRCh38]
Chr8:100883062 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1584T>C (p.Ala528=) single nucleotide variant Cohen syndrome [RCV001438814] Chr8:99136685 [GRCh38]
Chr8:100148913 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+8T>G single nucleotide variant Cohen syndrome [RCV001478808] Chr8:99121453 [GRCh38]
Chr8:100133681 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7062C>T (p.Ser2354=) single nucleotide variant Cohen syndrome [RCV001499027] Chr8:99766785 [GRCh38]
Chr8:100779013 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1368C>T (p.Cys456=) single nucleotide variant Cohen syndrome [RCV001399608] Chr8:99135080 [GRCh38]
Chr8:100147308 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=) single nucleotide variant Cohen syndrome [RCV001484661]|VPS13B-related disorder [RCV004743523] Chr8:99642101 [GRCh38]
Chr8:100654329 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2475A>G (p.Ala825=) single nucleotide variant Cohen syndrome [RCV001470678] Chr8:99193017 [GRCh38]
Chr8:100205245 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3177T>A (p.Ile1059=) single nucleotide variant Cohen syndrome [RCV001462736] Chr8:99431631 [GRCh38]
Chr8:100443859 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8049T>C (p.Thr2683=) single nucleotide variant Cohen syndrome [RCV001482983] Chr8:99809482 [GRCh38]
Chr8:100821710 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.810A>G (p.Gln270=) single nucleotide variant Cohen syndrome [RCV001468937] Chr8:99115747 [GRCh38]
Chr8:100127975 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2982A>G (p.Lys994=) single nucleotide variant Cohen syndrome [RCV001496753] Chr8:99391604 [GRCh38]
Chr8:100403832 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+10A>G single nucleotide variant Cohen syndrome [RCV001496770]|VPS13B-related disorder [RCV003966015] Chr8:99835334 [GRCh38]
Chr8:100847562 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=) single nucleotide variant Cohen syndrome [RCV001480050]|not provided [RCV003426143] Chr8:99853862 [GRCh38]
Chr8:100866090 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=) single nucleotide variant Cohen syndrome [RCV001486260]|not provided [RCV004571026] Chr8:99853628 [GRCh38]
Chr8:100865856 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs) microsatellite Cohen syndrome [RCV001380799] Chr8:99871677..99871678 [GRCh38]
Chr8:100883905..100883906 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=) single nucleotide variant Cohen syndrome [RCV001441842] Chr8:99817644 [GRCh38]
Chr8:100829872 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2700C>T (p.Asp900=) single nucleotide variant Cohen syndrome [RCV001441933]|VPS13B-related disorder [RCV004743490] Chr8:99275130 [GRCh38]
Chr8:100287358 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7353C>T (p.Val2451=) single nucleotide variant Cohen syndrome [RCV001461978]|VPS13B-related disorder [RCV004743508] Chr8:99776880 [GRCh38]
Chr8:100789108 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11904C>T (p.Tyr3968=) single nucleotide variant Cohen syndrome [RCV001485112]|VPS13B-related disorder [RCV003900677] Chr8:99875576 [GRCh38]
Chr8:100887804 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11049C>T (p.Thr3683=) single nucleotide variant Cohen syndrome [RCV001491404]|VPS13B-related disorder [RCV004743529] Chr8:99861780 [GRCh38]
Chr8:100874008 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8421C>G (p.Pro2807=) single nucleotide variant Cohen syndrome [RCV001475504] Chr8:99818510 [GRCh38]
Chr8:100830738 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+22del deletion Cohen syndrome [RCV001517068] Chr8:99511527 [GRCh38]
Chr8:100523755 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3432C>T (p.Pro1144=) single nucleotide variant Cohen syndrome [RCV001500536]|VPS13B-related disorder [RCV003921051] Chr8:99442622 [GRCh38]
Chr8:100454850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1843+16A>G single nucleotide variant Cohen syndrome [RCV001500549] Chr8:99143181 [GRCh38]
Chr8:100155409 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11157C>T (p.Pro3719=) single nucleotide variant Cohen syndrome [RCV001483585] Chr8:99861888 [GRCh38]
Chr8:100874116 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1629A>G (p.Thr543=) single nucleotide variant Cohen syndrome [RCV001452166] Chr8:99136730 [GRCh38]
Chr8:100148958 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6658-8T>C single nucleotide variant Cohen syndrome [RCV001476841]|VPS13B-related disorder [RCV004743517] Chr8:99720337 [GRCh38]
Chr8:100732565 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8700T>C (p.Pro2900=) single nucleotide variant Cohen syndrome [RCV001454914]|VPS13B-related disorder [RCV003938815] Chr8:99819490 [GRCh38]
Chr8:100831718 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10857T>C (p.Leu3619=) single nucleotide variant Cohen syndrome [RCV001475672] Chr8:99854246 [GRCh38]
Chr8:100866474 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5466A>G (p.Ser1822=) single nucleotide variant Cohen syndrome [RCV001459826] Chr8:99642056 [GRCh38]
Chr8:100654284 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9318T>C (p.His3106=) single nucleotide variant Cohen syndrome [RCV001480442] Chr8:99823966 [GRCh38]
Chr8:100836194 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3222A>G (p.Gln1074=) single nucleotide variant Cohen syndrome [RCV001428744] Chr8:99442412 [GRCh38]
Chr8:100454640 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1080C>T (p.Asp360=) single nucleotide variant Cohen syndrome [RCV001428793] Chr8:99121319 [GRCh38]
Chr8:100133547 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6G>T (p.Leu2=) single nucleotide variant Cohen syndrome [RCV001439609]|not provided [RCV003883646] Chr8:99013794 [GRCh38]
Chr8:100026022 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2013+9del deletion Cohen syndrome [RCV001515917] Chr8:99148016 [GRCh38]
Chr8:100160244 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1779G>A (p.Arg593=) single nucleotide variant Cohen syndrome [RCV001485425] Chr8:99143101 [GRCh38]
Chr8:100155329 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7329C>T (p.Asp2443=) single nucleotide variant Cohen syndrome [RCV001471811] Chr8:99776856 [GRCh38]
Chr8:100789084 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2634T>C (p.Ile878=) single nucleotide variant Cohen syndrome [RCV001491592] Chr8:99274316 [GRCh38]
Chr8:100286544 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4377T>C (p.Gly1459=) single nucleotide variant Cohen syndrome [RCV001474384] Chr8:99511256 [GRCh38]
Chr8:100523484 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=) single nucleotide variant Cohen syndrome [RCV001491647]|not provided [RCV003434281] Chr8:99819499 [GRCh38]
Chr8:100831727 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10557G>A (p.Leu3519=) single nucleotide variant Cohen syndrome [RCV001463394] Chr8:99853946 [GRCh38]
Chr8:100866174 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.807A>G (p.Gln269=) single nucleotide variant Cohen syndrome [RCV001480732] Chr8:99115744 [GRCh38]
Chr8:100127972 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4959G>A (p.Arg1653=) single nucleotide variant Cohen syndrome [RCV001466656] Chr8:99575667 [GRCh38]
Chr8:100587895 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-6T>C single nucleotide variant Cohen syndrome [RCV001426210] Chr8:99641805 [GRCh38]
Chr8:100654033 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4320A>G (p.Leu1440=) single nucleotide variant Cohen syndrome [RCV001397853] Chr8:99511199 [GRCh38]
Chr8:100523427 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11371C>T (p.Leu3791=) single nucleotide variant Cohen syndrome [RCV001468255] Chr8:99868444 [GRCh38]
Chr8:100880672 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8277G>C (p.Leu2759=) single nucleotide variant Cohen syndrome [RCV001474425] Chr8:99817719 [GRCh38]
Chr8:100829947 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.651C>T (p.Ala217=) single nucleotide variant Cohen syndrome [RCV001504277] Chr8:99111168 [GRCh38]
Chr8:100123396 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3051C>T (p.Ala1017=) single nucleotide variant Cohen syndrome [RCV001426389] Chr8:99391673 [GRCh38]
Chr8:100403901 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220+10A>G single nucleotide variant Cohen syndrome [RCV001429026] Chr8:99577643 [GRCh38]
Chr8:100589871 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) duplication Cohen syndrome [RCV001390727] Chr8:99699612..99699613 [GRCh38]
Chr8:100711840..100711841 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9399C>T (p.Ser3133=) single nucleotide variant Cohen syndrome [RCV001500658] Chr8:99832437 [GRCh38]
Chr8:100844665 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5484T>C (p.Cys1828=) single nucleotide variant Cohen syndrome [RCV001456020] Chr8:99642074 [GRCh38]
Chr8:100654302 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-10C>T single nucleotide variant Cohen syndrome [RCV001456047]|VPS13B-related disorder [RCV004743504] Chr8:99135005 [GRCh38]
Chr8:100147233 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7050+11A>G single nucleotide variant Cohen syndrome [RCV001521599]|not provided [RCV001587459] Chr8:99721058 [GRCh38]
Chr8:100733286 [GRCh37]
Chr8:8q22.2		 benign|likely benign
NM_152564.5(VPS13B):c.11215+10T>G single nucleotide variant Cohen syndrome [RCV001485808] Chr8:99861956 [GRCh38]
Chr8:100874184 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5607G>T (p.Thr1869=) single nucleotide variant Cohen syndrome [RCV001475805] Chr8:99642197 [GRCh38]
Chr8:100654425 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+9G>A single nucleotide variant Cohen syndrome [RCV001460597] Chr8:99835747 [GRCh38]
Chr8:100847975 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-6C>T single nucleotide variant Cohen syndrome [RCV001456601] Chr8:99853445 [GRCh38]
Chr8:100865673 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11028A>C (p.Val3676=) single nucleotide variant Cohen syndrome [RCV001504404] Chr8:99859464 [GRCh38]
Chr8:100871692 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-5T>C single nucleotide variant Cohen syndrome [RCV001470280] Chr8:99102948 [GRCh38]
Chr8:100115176 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs) microsatellite Cohen syndrome [RCV001386413] Chr8:99818726..99818727 [GRCh38]
Chr8:100830954..100830955 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter) single nucleotide variant Cohen syndrome [RCV001386470] Chr8:99818526 [GRCh38]
Chr8:100830754 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs) deletion Cohen syndrome [RCV001381583] Chr8:99859409 [GRCh38]
Chr8:100871637 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs) microsatellite Cohen syndrome [RCV001390904] Chr8:99819981..99819982 [GRCh38]
Chr8:100832209..100832210 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3013T>C (p.Leu1005=) single nucleotide variant Cohen syndrome [RCV001463297] Chr8:99391635 [GRCh38]
Chr8:100403863 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5994T>C (p.Gly1998=) single nucleotide variant Cohen syndrome [RCV001466214] Chr8:99661439 [GRCh38]
Chr8:100673667 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2935-8C>G single nucleotide variant Cohen syndrome [RCV001478255] Chr8:99391549 [GRCh38]
Chr8:100403777 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5631G>A (p.Arg1877=) single nucleotide variant Cohen syndrome [RCV001481434]|VPS13B-related disorder [RCV003956063] Chr8:99642221 [GRCh38]
Chr8:100654449 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8898T>C (p.Leu2966=) single nucleotide variant Cohen syndrome [RCV001484468] Chr8:99820026 [GRCh38]
Chr8:100832254 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7698C>T (p.Thr2566=) single nucleotide variant Cohen syndrome [RCV001487616]|VPS13B-related disorder [RCV004743527] Chr8:99778950 [GRCh38]
Chr8:100791178 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1323T>C (p.Pro441=) single nucleotide variant Cohen syndrome [RCV001393342] Chr8:99135035 [GRCh38]
Chr8:100147263 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1652-7C>A single nucleotide variant Cohen syndrome [RCV001416011]|VPS13B-related disorder [RCV004743467] Chr8:99142967 [GRCh38]
Chr8:100155195 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.141G>C (p.Leu47=) single nucleotide variant Cohen syndrome [RCV001403891] Chr8:99013929 [GRCh38]
Chr8:100026157 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3039C>G (p.Ala1013=) single nucleotide variant Cohen syndrome [RCV001406210] Chr8:99391661 [GRCh38]
Chr8:100403889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=) single nucleotide variant Cohen syndrome [RCV001489660]|not provided [RCV001699555] Chr8:99871619 [GRCh38]
Chr8:100883847 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8769C>G (p.Pro2923=) single nucleotide variant Cohen syndrome [RCV001489713]|VPS13B-related disorder [RCV004743528] Chr8:99819559 [GRCh38]
Chr8:100831787 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6258T>C (p.His2086=) single nucleotide variant Cohen syndrome [RCV001474715]|VPS13B-related disorder [RCV003900636] Chr8:99699736 [GRCh38]
Chr8:100711964 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3441A>G (p.Glu1147=) single nucleotide variant Cohen syndrome [RCV001474718] Chr8:99442631 [GRCh38]
Chr8:100454859 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+10T>C single nucleotide variant Cohen syndrome [RCV001491942]|VPS13B-related disorder [RCV004743530] Chr8:99870897 [GRCh38]
Chr8:100883125 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2799A>G (p.Gln933=) single nucleotide variant Cohen syndrome [RCV001493265] Chr8:99275229 [GRCh38]
Chr8:100287457 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4634-10T>C single nucleotide variant Cohen syndrome [RCV001493326] Chr8:99520889 [GRCh38]
Chr8:100533117 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11045-10G>A single nucleotide variant Cohen syndrome [RCV001481535] Chr8:99861766 [GRCh38]
Chr8:100873994 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3891T>G (p.Gly1297=) single nucleotide variant Cohen syndrome [RCV001481547] Chr8:99501707 [GRCh38]
Chr8:100513935 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6969C>G (p.Thr2323=) single nucleotide variant Cohen syndrome [RCV001464261] Chr8:99720966 [GRCh38]
Chr8:100733194 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11911C>T (p.Leu3971=) single nucleotide variant Cohen syndrome [RCV001464281] Chr8:99875583 [GRCh38]
Chr8:100887811 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7569C>T (p.Phe2523=) single nucleotide variant Cohen syndrome [RCV001467362] Chr8:99778821 [GRCh38]
Chr8:100791049 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=) single nucleotide variant Cohen syndrome [RCV001426979]|VPS13B-related disorder [RCV004743479]|not specified [RCV001820122] Chr8:99442523 [GRCh38]
Chr8:100454751 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10056C>T (p.Thr3352=) single nucleotide variant Cohen syndrome [RCV001403937] Chr8:99848889 [GRCh38]
Chr8:100861117 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6147C>T (p.His2049=) single nucleotide variant Cohen syndrome [RCV001398500] Chr8:99699625 [GRCh38]
Chr8:100711853 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10119G>A (p.Val3373=) single nucleotide variant Cohen syndrome [RCV001501134] Chr8:99853508 [GRCh38]
Chr8:100865736 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1869A>T (p.Ile623=) single nucleotide variant Cohen syndrome [RCV001472563] Chr8:99147866 [GRCh38]
Chr8:100160094 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11742G>A (p.Val3914=) single nucleotide variant Cohen syndrome [RCV001472661] Chr8:99871694 [GRCh38]
Chr8:100883922 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10455T>C (p.Asn3485=) single nucleotide variant Cohen syndrome [RCV001489947] Chr8:99853844 [GRCh38]
Chr8:100866072 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5832C>T (p.His1944=) single nucleotide variant Cohen syndrome [RCV001491981] Chr8:99642422 [GRCh38]
Chr8:100654650 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=) single nucleotide variant Cohen syndrome [RCV001467608]|VPS13B-related disorder [RCV003908703]|not provided [RCV003426123] Chr8:99821434 [GRCh38]
Chr8:100833662 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7362T>C (p.Leu2454=) single nucleotide variant Cohen syndrome [RCV001471233] Chr8:99776889 [GRCh38]
Chr8:100789117 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3771A>G (p.Ala1257=) single nucleotide variant Cohen syndrome [RCV001488519] Chr8:99481703 [GRCh38]
Chr8:100493931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11034C>T (p.His3678=) single nucleotide variant Cohen syndrome [RCV001416374] Chr8:99859470 [GRCh38]
Chr8:100871698 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7041T>C (p.Asp2347=) single nucleotide variant Cohen syndrome [RCV001469057] Chr8:99721038 [GRCh38]
Chr8:100733266 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1281A>G (p.Glu427=) single nucleotide variant Cohen syndrome [RCV001506649] Chr8:99134706 [GRCh38]
Chr8:100146934 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1207-11A>G single nucleotide variant Cohen syndrome [RCV001506727] Chr8:99134621 [GRCh38]
Chr8:100146849 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4758C>T (p.Asn1586=) single nucleotide variant Cohen syndrome [RCV001493719] Chr8:99556462 [GRCh38]
Chr8:100568690 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1713G>A (p.Glu571=) single nucleotide variant Cohen syndrome [RCV001461339] Chr8:99143035 [GRCh38]
Chr8:100155263 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6987T>C (p.Pro2329=) single nucleotide variant Cohen syndrome [RCV001467813] Chr8:99720984 [GRCh38]
Chr8:100733212 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100162579)_100168929del deletion Cohen syndrome [RCV001377509]   likely pathogenic
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter) single nucleotide variant Cohen syndrome [RCV001386923] Chr8:99391647 [GRCh38]
Chr8:100403875 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs) deletion Cohen syndrome [RCV001389060] Chr8:99431648..99431652 [GRCh38]
Chr8:100443876..100443880 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8995-190AC[28] microsatellite not provided [RCV001643556] Chr8:99821104..99821111 [GRCh38]
Chr8:100833332..100833339 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1755T>C (p.Arg585=) single nucleotide variant Cohen syndrome [RCV001438364] Chr8:99143077 [GRCh38]
Chr8:100155305 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100654029)_(100654736_?)del deletion Cohen syndrome [RCV001388036] Chr8:100654029..100654736 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100778992)_(100779208_?)del deletion Cohen syndrome [RCV001388037] Chr8:100778992..100779208 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100123316)_(100123517_?)del deletion Cohen syndrome [RCV001388038] Chr8:100123316..100123517 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100182257)_(100221906_?)del deletion Cohen syndrome [RCV001388041] Chr8:100182257..100221906 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter) single nucleotide variant Cohen syndrome [RCV001389220] Chr8:99467632 [GRCh38]
Chr8:100479860 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.861A>C (p.Gly287=) single nucleotide variant Cohen syndrome [RCV001448483] Chr8:99115798 [GRCh38]
Chr8:100128026 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+7G>C single nucleotide variant Cohen syndrome [RCV001411746]|VPS13B-related disorder [RCV004743463] Chr8:99135740 [GRCh38]
Chr8:100147968 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.558T>C (p.Asp186=) single nucleotide variant Cohen syndrome [RCV001448540] Chr8:99103098 [GRCh38]
Chr8:100115326 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+10_11495+11delinsAC indel Cohen syndrome [RCV001416830] Chr8:99870897..99870898 [GRCh38]
Chr8:100883125..100883126 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11211G>A (p.Leu3737=) single nucleotide variant Cohen syndrome [RCV001394205] Chr8:99861942 [GRCh38]
Chr8:100874170 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs) duplication Cohen syndrome [RCV001386045] Chr8:99717336..99717337 [GRCh38]
Chr8:100729564..100729565 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8961T>G (p.Pro2987=) single nucleotide variant Cohen syndrome [RCV001440915] Chr8:99820089 [GRCh38]
Chr8:100832317 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3039C>T (p.Ala1013=) single nucleotide variant Cohen syndrome [RCV001411891] Chr8:99391661 [GRCh38]
Chr8:100403889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11457T>C (p.His3819=) single nucleotide variant Cohen syndrome [RCV001417237] Chr8:99870849 [GRCh38]
Chr8:100883077 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7941+7G>C single nucleotide variant Cohen syndrome [RCV001427989] Chr8:99784483 [GRCh38]
Chr8:100796711 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1959C>G (p.Ser653=) single nucleotide variant Cohen syndrome [RCV001430356]|VPS13B-related disorder [RCV004743481] Chr8:99147956 [GRCh38]
Chr8:100160184 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11322G>A (p.Gly3774=) single nucleotide variant Cohen syndrome [RCV001407083] Chr8:99868395 [GRCh38]
Chr8:100880623 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8298T>C (p.Asp2766=) single nucleotide variant Cohen syndrome [RCV001446402] Chr8:99817740 [GRCh38]
Chr8:100829968 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=) single nucleotide variant Cohen syndrome [RCV001448815]|Inborn genetic diseases [RCV002432247]|VPS13B-related disorder [RCV003908667] Chr8:99859386 [GRCh38]
Chr8:100871614 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4266A>G (p.Gly1422=) single nucleotide variant Cohen syndrome [RCV001424739] Chr8:99511145 [GRCh38]
Chr8:100523373 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4113G>A (p.Val1371=) single nucleotide variant Cohen syndrome [RCV001399171]|VPS13B-related disorder [RCV004743455] Chr8:99502906 [GRCh38]
Chr8:100515134 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3324C>A (p.Thr1108=) single nucleotide variant Cohen syndrome [RCV001428847] Chr8:99442514 [GRCh38]
Chr8:100454742 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11283A>C (p.Ser3761=) single nucleotide variant Cohen syndrome [RCV001440940] Chr8:99868356 [GRCh38]
Chr8:100880584 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4902T>C (p.Thr1634=) single nucleotide variant Cohen syndrome [RCV001440941] Chr8:99556606 [GRCh38]
Chr8:100568834 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11949A>G (p.Lys3983=) single nucleotide variant Cohen syndrome [RCV001407019] Chr8:99875621 [GRCh38]
Chr8:100887849 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8097+10T>C single nucleotide variant Cohen syndrome [RCV001409562]|VPS13B-related disorder [RCV004743462] Chr8:99809540 [GRCh38]
Chr8:100821768 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3021G>A (p.Lys1007=) single nucleotide variant Cohen syndrome [RCV001412027] Chr8:99391643 [GRCh38]
Chr8:100403871 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3270A>G (p.Thr1090=) single nucleotide variant Cohen syndrome [RCV001399822] Chr8:99442460 [GRCh38]
Chr8:100454688 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9948G>A (p.Val3316=) single nucleotide variant Cohen syndrome [RCV001441304] Chr8:99848781 [GRCh38]
Chr8:100861009 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3445+7G>A single nucleotide variant Cohen syndrome [RCV001435723] Chr8:99442642 [GRCh38]
Chr8:100454870 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6866-9A>G single nucleotide variant Cohen syndrome [RCV001432655] Chr8:99720854 [GRCh38]
Chr8:100733082 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2808C>T (p.Asp936=) single nucleotide variant Cohen syndrome [RCV001432881]|Inborn genetic diseases [RCV002439010]|VPS13B-related disorder [RCV004743483] Chr8:99275238 [GRCh38]
Chr8:100287466 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8362-6G>T single nucleotide variant Cohen syndrome [RCV001448959] Chr8:99818445 [GRCh38]
Chr8:100830673 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.938-7T>C single nucleotide variant Cohen syndrome [RCV001441437]|VPS13B-related disorder [RCV003900515] Chr8:99121170 [GRCh38]
Chr8:100133398 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10257T>C (p.Cys3419=) single nucleotide variant Cohen syndrome [RCV001409918] Chr8:99853646 [GRCh38]
Chr8:100865874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3219A>G (p.Val1073=) single nucleotide variant Cohen syndrome [RCV001409925] Chr8:99442409 [GRCh38]
Chr8:100454637 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2925T>C (p.His975=) single nucleotide variant Cohen syndrome [RCV001410075] Chr8:99384308 [GRCh38]
Chr8:100396536 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3084A>G (p.Glu1028=) single nucleotide variant Cohen syndrome [RCV001427953] Chr8:99431538 [GRCh38]
Chr8:100443766 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.120C>A (p.Leu40=) single nucleotide variant Cohen syndrome [RCV001403414] Chr8:99013908 [GRCh38]
Chr8:100026136 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter) single nucleotide variant Cohen syndrome [RCV001389580] Chr8:99192967 [GRCh38]
Chr8:100205195 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11802C>T (p.Tyr3934=) single nucleotide variant Cohen syndrome [RCV001449101] Chr8:99875474 [GRCh38]
Chr8:100887702 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs) duplication Cohen syndrome [RCV001389984] Chr8:99143075..99143076 [GRCh38]
Chr8:100155303..100155304 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11673T>C (p.Cys3891=) single nucleotide variant Cohen syndrome [RCV001405275] Chr8:99871625 [GRCh38]
Chr8:100883853 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.681T>A (p.Pro227=) single nucleotide variant Cohen syndrome [RCV001410092] Chr8:99111198 [GRCh38]
Chr8:100123426 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8621+144G>A single nucleotide variant not provided [RCV001541189] Chr8:99819032 [GRCh38]
Chr8:100831260 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3546C>G (p.Thr1182=) single nucleotide variant Cohen syndrome [RCV001434246] Chr8:99467514 [GRCh38]
Chr8:100479742 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11044+20G>C single nucleotide variant Cohen syndrome [RCV001424965] Chr8:99859500 [GRCh38]
Chr8:100871728 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1938C>T (p.Leu646=) single nucleotide variant Cohen syndrome [RCV001426686] Chr8:99147935 [GRCh38]
Chr8:100160163 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6834G>A (p.Arg2278=) single nucleotide variant Cohen syndrome [RCV001439780] Chr8:99720521 [GRCh38]
Chr8:100732749 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3147T>C (p.Pro1049=) single nucleotide variant Cohen syndrome [RCV001403481] Chr8:99431601 [GRCh38]
Chr8:100443829 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4833T>C (p.Ile1611=) single nucleotide variant Cohen syndrome [RCV001449377]|not provided [RCV004584909] Chr8:99556537 [GRCh38]
Chr8:100568765 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11031G>A (p.Lys3677=) single nucleotide variant Cohen syndrome [RCV001449385] Chr8:99859467 [GRCh38]
Chr8:100871695 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-10A>G single nucleotide variant Cohen syndrome [RCV001436744]|VPS13B-related disorder [RCV003973288] Chr8:99818703 [GRCh38]
Chr8:100830931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter) single nucleotide variant Cohen syndrome [RCV001380887] Chr8:99699873 [GRCh38]
Chr8:100712101 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2586C>T (p.Ser862=) single nucleotide variant Cohen syndrome [RCV001405326] Chr8:99274268 [GRCh38]
Chr8:100286496 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9234T>C (p.Ile3078=) single nucleotide variant Cohen syndrome [RCV001399582] Chr8:99823882 [GRCh38]
Chr8:100836110 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8631T>C (p.Tyr2877=) single nucleotide variant Cohen syndrome [RCV001430686] Chr8:99819421 [GRCh38]
Chr8:100831649 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11484C>G (p.Val3828=) single nucleotide variant Cohen syndrome [RCV001407670] Chr8:99870876 [GRCh38]
Chr8:100883104 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3504A>G (p.Gly1168=) single nucleotide variant Cohen syndrome [RCV001410170] Chr8:99467472 [GRCh38]
Chr8:100479700 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4959G>T (p.Arg1653=) single nucleotide variant Cohen syndrome [RCV001410177] Chr8:99575667 [GRCh38]
Chr8:100587895 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4042+7G>T single nucleotide variant Cohen syndrome [RCV001449408] Chr8:99501865 [GRCh38]
Chr8:100514093 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9456A>G (p.Ala3152=) single nucleotide variant Cohen syndrome [RCV001428551] Chr8:99832494 [GRCh38]
Chr8:100844722 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.18A>C (p.Val6=) single nucleotide variant Cohen syndrome [RCV001428562] Chr8:99013806 [GRCh38]
Chr8:100026034 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5679T>G (p.Leu1893=) single nucleotide variant Cohen syndrome [RCV001439328] Chr8:99642269 [GRCh38]
Chr8:100654497 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3090C>A (p.Arg1030=) single nucleotide variant Cohen syndrome [RCV001393301] Chr8:99431544 [GRCh38]
Chr8:100443772 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.938-7T>A single nucleotide variant Cohen syndrome [RCV001440034] Chr8:99121170 [GRCh38]
Chr8:100133398 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6594G>A (p.Gly2198=) single nucleotide variant Cohen syndrome [RCV001441826] Chr8:99717310 [GRCh38]
Chr8:100729538 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7430-11T>C single nucleotide variant Cohen syndrome [RCV001444372] Chr8:99778671 [GRCh38]
Chr8:100790899 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3553C>T (p.Leu1185=) single nucleotide variant Cohen syndrome [RCV001407945]|VPS13B-related disorder [RCV003930873] Chr8:99467521 [GRCh38]
Chr8:100479749 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-7T>C single nucleotide variant Cohen syndrome [RCV001410423] Chr8:99809368 [GRCh38]
Chr8:100821596 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11433G>A (p.Gln3811=) single nucleotide variant Cohen syndrome [RCV001449529] Chr8:99870825 [GRCh38]
Chr8:100883053 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5295T>C (p.Gly1765=) single nucleotide variant Cohen syndrome [RCV001426142] Chr8:99641885 [GRCh38]
Chr8:100654113 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3523C>T (p.Leu1175=) single nucleotide variant Cohen syndrome [RCV001418561] Chr8:99467491 [GRCh38]
Chr8:100479719 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100568668)_(100568891_?)del deletion Cohen syndrome [RCV001388035] Chr8:100568668..100568891 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2334-9C>T single nucleotide variant Cohen syndrome [RCV001447224] Chr8:99192867 [GRCh38]
Chr8:100205095 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5925G>A (p.Leu1975=) single nucleotide variant Cohen syndrome [RCV001393374] Chr8:99661370 [GRCh38]
Chr8:100673598 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4584A>G (p.Val1528=) single nucleotide variant Cohen syndrome [RCV001425310] Chr8:99511463 [GRCh38]
Chr8:100523691 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2333+10A>G single nucleotide variant Cohen syndrome [RCV001431038]|VPS13B-related disorder [RCV004743482] Chr8:99170173 [GRCh38]
Chr8:100182401 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7218C>T (p.Asn2406=) single nucleotide variant Cohen syndrome [RCV001408065] Chr8:99766941 [GRCh38]
Chr8:100779169 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7974C>T (p.Asn2658=) single nucleotide variant Cohen syndrome [RCV001410575] Chr8:99809407 [GRCh38]
Chr8:100821635 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) single nucleotide variant Cohen syndrome [RCV001383462] Chr8:99817783 [GRCh38]
Chr8:100830011 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9567T>C (p.Ser3189=) single nucleotide variant Cohen syndrome [RCV001437408] Chr8:99832605 [GRCh38]
Chr8:100844833 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10159C>T (p.Leu3387=) single nucleotide variant Cohen syndrome [RCV001437440] Chr8:99853548 [GRCh38]
Chr8:100865776 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4521G>A (p.Gln1507=) single nucleotide variant Cohen syndrome [RCV001444737] Chr8:99511400 [GRCh38]
Chr8:100523628 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=) single nucleotide variant Cohen syndrome [RCV001444847]|Inborn genetic diseases [RCV002377733] Chr8:99821338 [GRCh38]
Chr8:100833566 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+19A>G single nucleotide variant Cohen syndrome [RCV001447442] Chr8:99038585 [GRCh38]
Chr8:100050813 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.450T>C (p.Asn150=) single nucleotide variant Cohen syndrome [RCV001447443]|VPS13B-related disorder [RCV003900538] Chr8:99102990 [GRCh38]
Chr8:100115218 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5157A>G (p.Gln1719=) single nucleotide variant Cohen syndrome [RCV001405610] Chr8:99577570 [GRCh38]
Chr8:100589798 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8160C>T (p.Val2720=) single nucleotide variant Cohen syndrome [RCV001444702] Chr8:99817602 [GRCh38]
Chr8:100829830 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4827C>T (p.Ile1609=) single nucleotide variant Cohen syndrome [RCV001410709] Chr8:99556531 [GRCh38]
Chr8:100568759 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+8C>T single nucleotide variant Cohen syndrome [RCV001397996] Chr8:99193065 [GRCh38]
Chr8:100205293 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.339T>G (p.Ala113=) single nucleotide variant Cohen syndrome [RCV001398036] Chr8:99096359 [GRCh38]
Chr8:100108587 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7659A>C (p.Ala2553=) single nucleotide variant Cohen syndrome [RCV001444983] Chr8:99778911 [GRCh38]
Chr8:100791139 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10740G>T (p.Leu3580=) single nucleotide variant Cohen syndrome [RCV001444990] Chr8:99854129 [GRCh38]
Chr8:100866357 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10614G>A (p.Gly3538=) single nucleotide variant Cohen syndrome [RCV001447685] Chr8:99854003 [GRCh38]
Chr8:100866231 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9614+302G>A single nucleotide variant not provided [RCV001533835] Chr8:99832954 [GRCh38]
Chr8:100845182 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-86A>T single nucleotide variant not provided [RCV001533975] Chr8:99431451 [GRCh38]
Chr8:100443679 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3285C>T (p.Asp1095=) single nucleotide variant Cohen syndrome [RCV001400048] Chr8:99442475 [GRCh38]
Chr8:100454703 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=) single nucleotide variant Cohen syndrome [RCV001410828]|VPS13B-related disorder [RCV003900408] Chr8:99717172 [GRCh38]
Chr8:100729400 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5373G>A (p.Gln1791=) single nucleotide variant Cohen syndrome [RCV001401282] Chr8:99641963 [GRCh38]
Chr8:100654191 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+7G>A single nucleotide variant Cohen syndrome [RCV001403571] Chr8:99818541 [GRCh38]
Chr8:100830769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs) deletion Cohen syndrome [RCV001388506] Chr8:99699679..99699688 [GRCh38]
Chr8:100711907..100711916 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5022A>G (p.Gly1674=) single nucleotide variant Cohen syndrome [RCV001445174] Chr8:99575730 [GRCh38]
Chr8:100587958 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11216-1G>C single nucleotide variant Cohen syndrome [RCV001378554] Chr8:99868288 [GRCh38]
Chr8:100880516 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1887G>A (p.Val629=) single nucleotide variant Cohen syndrome [RCV001425651] Chr8:99147884 [GRCh38]
Chr8:100160112 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9993G>A (p.Gln3331=) single nucleotide variant Cohen syndrome [RCV001401531]|VPS13B-related disorder [RCV003946053] Chr8:99848826 [GRCh38]
Chr8:100861054 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs) duplication Cohen syndrome [RCV001388880] Chr8:99391610..99391611 [GRCh38]
Chr8:100403838..100403839 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100182257)_(100182401_?)del deletion Cohen syndrome [RCV001390576] Chr8:100182257..100182401 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8274G>A (p.Glu2758=) single nucleotide variant Cohen syndrome [RCV001401346] Chr8:99817716 [GRCh38]
Chr8:100829944 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11583G>A (p.Gly3861=) single nucleotide variant Cohen syndrome [RCV001429373] Chr8:99871535 [GRCh38]
Chr8:100883763 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3909A>T (p.Ser1303=) single nucleotide variant Cohen syndrome [RCV001408756] Chr8:99501725 [GRCh38]
Chr8:100513953 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4830T>C (p.Asn1610=) single nucleotide variant Cohen syndrome [RCV001448052] Chr8:99556534 [GRCh38]
Chr8:100568762 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5556C>T (p.Leu1852=) single nucleotide variant Cohen syndrome [RCV001401627] Chr8:99642146 [GRCh38]
Chr8:100654374 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter) single nucleotide variant Cohen syndrome [RCV001388912] Chr8:99143079 [GRCh38]
Chr8:100155307 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6801A>T (p.Thr2267=) single nucleotide variant Cohen syndrome [RCV001440538] Chr8:99720488 [GRCh38]
Chr8:100732716 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4866G>A (p.Glu1622=) single nucleotide variant Cohen syndrome [RCV001442597]|VPS13B-related disorder [RCV004743492] Chr8:99556570 [GRCh38]
Chr8:100568798 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6636C>T (p.Asp2212=) single nucleotide variant Cohen syndrome [RCV001408515] Chr8:99717352 [GRCh38]
Chr8:100729580 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6417T>C (p.Asn2139=) single nucleotide variant Cohen syndrome [RCV001419481]|Inborn genetic diseases [RCV002358936] Chr8:99699895 [GRCh38]
Chr8:100712123 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1347T>C (p.Phe449=) single nucleotide variant Cohen syndrome [RCV001432025] Chr8:99135059 [GRCh38]
Chr8:100147287 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11188C>T (p.Leu3730=) single nucleotide variant Cohen syndrome [RCV001445454] Chr8:99861919 [GRCh38]
Chr8:100874147 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9750A>G (p.Pro3250=) single nucleotide variant Cohen syndrome [RCV001411317] Chr8:99835546 [GRCh38]
Chr8:100847774 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10533A>G (p.Thr3511=) single nucleotide variant Cohen syndrome [RCV001411331]|VPS13B-related disorder [RCV003930885] Chr8:99853922 [GRCh38]
Chr8:100866150 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1843+283T>C single nucleotide variant not provided [RCV001535081] Chr8:99143448 [GRCh38]
Chr8:100155676 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs) microsatellite Cohen syndrome [RCV001387805] Chr8:99467454..99467455 [GRCh38]
Chr8:100479682..100479683 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2016C>T (p.Asn672=) single nucleotide variant Cohen syndrome [RCV001404134]|VPS13B-related disorder [RCV004743460] Chr8:99156551 [GRCh38]
Chr8:100168779 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2328A>G (p.Thr776=) single nucleotide variant Cohen syndrome [RCV001445322] Chr8:99170158 [GRCh38]
Chr8:100182386 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10110C>T (p.Ser3370=) single nucleotide variant Cohen syndrome [RCV001408808] Chr8:99853499 [GRCh38]
Chr8:100865727 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4653A>G (p.Glu1551=) single nucleotide variant Cohen syndrome [RCV001448083]|VPS13B-related disorder [RCV004743495] Chr8:99520918 [GRCh38]
Chr8:100533146 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+3_11495+34dup duplication Cohen syndrome [RCV001435279] Chr8:99870888..99870889 [GRCh38]
Chr8:100883116..100883117 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-14A>G single nucleotide variant Cohen syndrome [RCV001448318] Chr8:99431523 [GRCh38]
Chr8:100443751 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7430-240A>T single nucleotide variant not provided [RCV001565041] Chr8:99778442 [GRCh38]
Chr8:100790670 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4806C>T (p.Tyr1602=) single nucleotide variant Cohen syndrome [RCV001393868] Chr8:99556510 [GRCh38]
Chr8:100568738 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8751G>T (p.Ser2917=) single nucleotide variant Cohen syndrome [RCV001438204] Chr8:99819541 [GRCh38]
Chr8:100831769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+8T>C single nucleotide variant Cohen syndrome [RCV001401775]|VPS13B-related disorder [RCV004743458] Chr8:99870895 [GRCh38]
Chr8:100883123 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3094T>C (p.Leu1032=) single nucleotide variant Cohen syndrome [RCV001402845]|VPS13B-related disorder [RCV004743459] Chr8:99431548 [GRCh38]
Chr8:100443776 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4674T>C (p.Ile1558=) single nucleotide variant Cohen syndrome [RCV001408909] Chr8:99520939 [GRCh38]
Chr8:100533167 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4932G>A (p.Glu1644=) single nucleotide variant Cohen syndrome [RCV001411513] Chr8:99556636 [GRCh38]
Chr8:100568864 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+2T>G single nucleotide variant Cohen syndrome [RCV001377612]|VPS13B-related disorder [RCV003416298] Chr8:99275256 [GRCh38]
Chr8:100287484 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2001T>A (p.Ile667=) single nucleotide variant Cohen syndrome [RCV001404261]|VPS13B-related disorder [RCV004743461] Chr8:99147998 [GRCh38]
Chr8:100160226 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100396426)_(100479872_?)dup duplication Cohen syndrome [RCV001377508] Chr8:100396426..100479872 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100479254)_100479653del deletion Cohen syndrome [RCV001377510]   likely pathogenic
NM_152564.5(VPS13B):c.3279T>C (p.Ser1093=) single nucleotide variant Cohen syndrome [RCV001424437] Chr8:99442469 [GRCh38]
Chr8:100454697 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-10A>G single nucleotide variant Cohen syndrome [RCV001427558]|VPS13B-related disorder [RCV003946120] Chr8:99699515 [GRCh38]
Chr8:100711743 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs) deletion Cohen syndrome [RCV001389141]|not provided [RCV003332342] Chr8:99642129..99642130 [GRCh38]
Chr8:100654357..100654358 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1107C>T (p.Asn369=) single nucleotide variant Cohen syndrome [RCV001443131] Chr8:99121346 [GRCh38]
Chr8:100133574 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3714C>T (p.Asn1238=) single nucleotide variant Cohen syndrome [RCV001443150]|VPS13B-related disorder [RCV004743493] Chr8:99481646 [GRCh38]
Chr8:100493874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10584G>A (p.Arg3528=) single nucleotide variant Cohen syndrome [RCV001406911] Chr8:99853973 [GRCh38]
Chr8:100866201 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10680A>G (p.Leu3560=) single nucleotide variant Cohen syndrome [RCV001448593] Chr8:99854069 [GRCh38]
Chr8:100866297 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+94dup duplication not provided [RCV001536460] Chr8:99275335..99275336 [GRCh38]
Chr8:100287563..100287564 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4981T>C (p.Leu1661=) single nucleotide variant Cohen syndrome [RCV001467807] Chr8:99575689 [GRCh38]
Chr8:100587917 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+560C>T single nucleotide variant Cohen syndrome [RCV001505353]|VPS13B-related disorder [RCV004743540] Chr8:99507763 [GRCh38]
Chr8:100519991 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11316T>C (p.Gly3772=) single nucleotide variant Cohen syndrome [RCV001485600] Chr8:99868389 [GRCh38]
Chr8:100880617 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-4A>G single nucleotide variant Cohen syndrome [RCV001514354]|Inborn genetic diseases [RCV002568024] Chr8:99135011 [GRCh38]
Chr8:100147239 [GRCh37]
Chr8:8q22.2		 benign|uncertain significance
NM_152564.5(VPS13B):c.3900A>G (p.Ser1300=) single nucleotide variant Cohen syndrome [RCV001494084] Chr8:99501716 [GRCh38]
Chr8:100513944 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2007A>T (p.Gly669=) single nucleotide variant Cohen syndrome [RCV001457517] Chr8:99148004 [GRCh38]
Chr8:100160232 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5190T>C (p.Thr1730=) single nucleotide variant Cohen syndrome [RCV001482084] Chr8:99577603 [GRCh38]
Chr8:100589831 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4280C>T (p.Thr1427Ile) single nucleotide variant not provided [RCV001508614] Chr8:99511159 [GRCh38]
Chr8:100523387 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11001C>T (p.Gly3667=) single nucleotide variant Cohen syndrome [RCV001461351]|Inborn genetic diseases [RCV002432291] Chr8:99859437 [GRCh38]
Chr8:100871665 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3429A>G (p.Arg1143=) single nucleotide variant Cohen syndrome [RCV001501894] Chr8:99442619 [GRCh38]
Chr8:100454847 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.900T>A (p.Leu300=) single nucleotide variant Cohen syndrome [RCV001457139] Chr8:99115837 [GRCh38]
Chr8:100128065 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10078G>T (p.Val3360Phe) single nucleotide variant not provided [RCV001508618] Chr8:99853467 [GRCh38]
Chr8:100865695 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7371T>C (p.Ser2457=) single nucleotide variant Cohen syndrome [RCV001461734] Chr8:99776898 [GRCh38]
Chr8:100789126 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220+10A>C single nucleotide variant Cohen syndrome [RCV001482162] Chr8:99577643 [GRCh38]
Chr8:100589871 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2607C>T (p.Ala869=) single nucleotide variant Cohen syndrome [RCV001485989] Chr8:99274289 [GRCh38]
Chr8:100286517 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11619G>A (p.Val3873=) single nucleotide variant Cohen syndrome [RCV001450235]|VPS13B-related disorder [RCV003908670] Chr8:99871571 [GRCh38]
Chr8:100883799 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg) single nucleotide variant Cohen syndrome [RCV002564255]|not provided [RCV001508615] Chr8:99511414 [GRCh38]
Chr8:100523642 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.69G>A (p.Pro23=) single nucleotide variant Cohen syndrome [RCV001495746] Chr8:99013857 [GRCh38]
Chr8:100026085 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10659C>T (p.Ala3553=) single nucleotide variant Cohen syndrome [RCV001454860] Chr8:99854048 [GRCh38]
Chr8:100866276 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7722A>C (p.Val2574=) single nucleotide variant Cohen syndrome [RCV001454952] Chr8:99778974 [GRCh38]
Chr8:100791202 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3253C>T (p.Leu1085=) single nucleotide variant Cohen syndrome [RCV001458052] Chr8:99442443 [GRCh38]
Chr8:100454671 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.849T>C (p.Ala283=) single nucleotide variant Cohen syndrome [RCV001465484] Chr8:99115786 [GRCh38]
Chr8:100128014 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7032C>T (p.Asp2344=) single nucleotide variant Cohen syndrome [RCV001486345] Chr8:99721029 [GRCh38]
Chr8:100733257 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6528C>T (p.Ser2176=) single nucleotide variant Cohen syndrome [RCV001502520] Chr8:99717244 [GRCh38]
Chr8:100729472 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.624T>C (p.Cys208=) single nucleotide variant Cohen syndrome [RCV001502593] Chr8:99111141 [GRCh38]
Chr8:100123369 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3759A>G (p.Pro1253=) single nucleotide variant Cohen syndrome [RCV001502599] Chr8:99481691 [GRCh38]
Chr8:100493919 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+13C>T single nucleotide variant Cohen syndrome [RCV001510351] Chr8:99835337 [GRCh38]
Chr8:100847565 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11392+19C>T single nucleotide variant Cohen syndrome [RCV001454974] Chr8:99868484 [GRCh38]
Chr8:100880712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4260G>A (p.Lys1420=) single nucleotide variant Cohen syndrome [RCV001458868] Chr8:99507872 [GRCh38]
Chr8:100520100 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9273A>G (p.Pro3091=) single nucleotide variant Cohen syndrome [RCV001486503] Chr8:99823921 [GRCh38]
Chr8:100836149 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+56G>A single nucleotide variant not provided [RCV001667147] Chr8:99854312 [GRCh38]
Chr8:100866540 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3445+247G>A single nucleotide variant not provided [RCV001675521] Chr8:99442882 [GRCh38]
Chr8:100455110 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11622T>C (p.Ser3874=) single nucleotide variant Cohen syndrome [RCV001451744] Chr8:99871574 [GRCh38]
Chr8:100883802 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2037T>C (p.Thr679=) single nucleotide variant Cohen syndrome [RCV001476479] Chr8:99156572 [GRCh38]
Chr8:100168800 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6867A>G (p.Glu2289=) single nucleotide variant Cohen syndrome [RCV001451845] Chr8:99720864 [GRCh38]
Chr8:100733092 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3211-9C>G single nucleotide variant Cohen syndrome [RCV001503505] Chr8:99442392 [GRCh38]
Chr8:100454620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4236C>A (p.Thr1412=) single nucleotide variant Cohen syndrome [RCV001462500] Chr8:99507848 [GRCh38]
Chr8:100520076 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3453T>C (p.Ala1151=) single nucleotide variant Cohen syndrome [RCV001459560]|VPS13B-related disorder [RCV004743505] Chr8:99467421 [GRCh38]
Chr8:100479649 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11658C>T (p.Val3886=) single nucleotide variant Cohen syndrome [RCV001500310] Chr8:99871610 [GRCh38]
Chr8:100883838 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.147+112T>C single nucleotide variant not provided [RCV001653212] Chr8:99014047 [GRCh38]
Chr8:100026275 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1593A>G (p.Gln531=) single nucleotide variant Cohen syndrome [RCV001459755] Chr8:99136694 [GRCh38]
Chr8:100148922 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1425+14C>T single nucleotide variant Cohen syndrome [RCV001503826] Chr8:99135151 [GRCh38]
Chr8:100147379 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7059T>C (p.Cys2353=) single nucleotide variant Cohen syndrome [RCV001477038] Chr8:99766782 [GRCh38]
Chr8:100779010 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11577T>C (p.His3859=) single nucleotide variant Cohen syndrome [RCV001497532]|not provided [RCV003434288] Chr8:99871529 [GRCh38]
Chr8:100883757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5541G>A (p.Lys1847=) single nucleotide variant Cohen syndrome [RCV001460140] Chr8:99642131 [GRCh38]
Chr8:100654359 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5919G>A (p.Lys1973=) single nucleotide variant Cohen syndrome [RCV001460143] Chr8:99661364 [GRCh38]
Chr8:100673592 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6087C>T (p.Asn2029=) single nucleotide variant Cohen syndrome [RCV001480609] Chr8:99699565 [GRCh38]
Chr8:100711793 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5196G>A (p.Leu1732=) single nucleotide variant Cohen syndrome [RCV001470432] Chr8:99577609 [GRCh38]
Chr8:100589837 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+16841dup duplication not provided [RCV001693636] Chr8:99209896..99209897 [GRCh38]
Chr8:100222124..100222125 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3234G>A (p.Val1078=) single nucleotide variant Cohen syndrome [RCV001477090] Chr8:99442424 [GRCh38]
Chr8:100454652 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8362-8A>C single nucleotide variant Cohen syndrome [RCV001452526] Chr8:99818443 [GRCh38]
Chr8:100830671 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7164C>T (p.Leu2388=) single nucleotide variant Cohen syndrome [RCV001455912]|Inborn genetic diseases [RCV002377758]|VPS13B-related disorder [RCV003908678] Chr8:99766887 [GRCh38]
Chr8:100779115 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5613A>C (p.Thr1871=) single nucleotide variant Cohen syndrome [RCV001460280] Chr8:99642203 [GRCh38]
Chr8:100654431 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.537T>C (p.Tyr179=) single nucleotide variant Cohen syndrome [RCV001453153] Chr8:99103077 [GRCh38]
Chr8:100115305 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-10_8446-6del deletion Cohen syndrome [RCV001470754]|VPS13B-related disorder [RCV004743514] Chr8:99818699..99818703 [GRCh38]
Chr8:100830927..100830931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10902C>T (p.Ser3634=) single nucleotide variant Cohen syndrome [RCV001452707] Chr8:99859338 [GRCh38]
Chr8:100871566 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2934+7G>A single nucleotide variant Cohen syndrome [RCV001477456] Chr8:99384324 [GRCh38]
Chr8:100396552 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10794C>T (p.Pro3598=) single nucleotide variant Cohen syndrome [RCV001477962] Chr8:99854183 [GRCh38]
Chr8:100866411 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=) single nucleotide variant Cohen syndrome [RCV001504555]|VPS13B-related disorder [RCV004743539] Chr8:99431616 [GRCh38]
Chr8:100443844 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9006A>G (p.Gln3002=) single nucleotide variant Cohen syndrome [RCV001481159] Chr8:99821305 [GRCh38]
Chr8:100833533 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4293T>C (p.Phe1431=) single nucleotide variant Cohen syndrome [RCV001498236] Chr8:99507905 [GRCh38]
Chr8:100520133 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6058T>C (p.Leu2020=) single nucleotide variant Cohen syndrome [RCV001460742] Chr8:99699536 [GRCh38]
Chr8:100711764 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4887G>A (p.Gly1629=) single nucleotide variant Cohen syndrome [RCV001456550] Chr8:99556591 [GRCh38]
Chr8:100568819 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11393-9T>C single nucleotide variant Cohen syndrome [RCV001453764]|VPS13B-related disorder [RCV004743500] Chr8:99870776 [GRCh38]
Chr8:100883004 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5178A>G (p.Val1726=) single nucleotide variant Cohen syndrome [RCV001505520]|Inborn genetic diseases [RCV002334560] Chr8:99577591 [GRCh38]
Chr8:100589819 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=) single nucleotide variant Cohen syndrome [RCV001501334]|VPS13B-related disorder [RCV003956107]|not specified [RCV001820210] Chr8:99776793 [GRCh38]
Chr8:100789021 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+52_2824+53del deletion not provided [RCV001678934] Chr8:99275290..99275291 [GRCh38]
Chr8:100287518..100287519 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3615C>T (p.Val1205=) single nucleotide variant Cohen syndrome [RCV001453948] Chr8:99467583 [GRCh38]
Chr8:100479811 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=) single nucleotide variant Cohen syndrome [RCV001456918]|VPS13B-related disorder [RCV003900569] Chr8:99642257 [GRCh38]
Chr8:100654485 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+53C>T single nucleotide variant not provided [RCV001648413] Chr8:99511565 [GRCh38]
Chr8:100523793 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter) single nucleotide variant Cohen syndrome [RCV001384640] Chr8:99832371 [GRCh38]
Chr8:100844599 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1602G>A (p.Gly534=) single nucleotide variant Cohen syndrome [RCV001435579] Chr8:99136703 [GRCh38]
Chr8:100148931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6921T>C (p.Asp2307=) single nucleotide variant Cohen syndrome [RCV001419026] Chr8:99720918 [GRCh38]
Chr8:100733146 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5154T>G (p.Val1718=) single nucleotide variant Cohen syndrome [RCV001439260] Chr8:99577567 [GRCh38]
Chr8:100589795 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8304C>T (p.Asp2768=) single nucleotide variant Cohen syndrome [RCV001460153] Chr8:99817746 [GRCh38]
Chr8:100829974 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.627A>T (p.Thr209=) single nucleotide variant Cohen syndrome [RCV001462448] Chr8:99111144 [GRCh38]
Chr8:100123372 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3594T>C (p.Asp1198=) single nucleotide variant Cohen syndrome [RCV001499877]|Inborn genetic diseases [RCV002456903] Chr8:99467562 [GRCh38]
Chr8:100479790 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6948T>C (p.Tyr2316=) single nucleotide variant Cohen syndrome [RCV001458067] Chr8:99720945 [GRCh38]
Chr8:100733173 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-6C>T single nucleotide variant Cohen syndrome [RCV001486200]|VPS13B-related disorder [RCV004743526] Chr8:99699519 [GRCh38]
Chr8:100711747 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11523A>T (p.Pro3841=) single nucleotide variant Cohen syndrome [RCV001469746]|VPS13B-related disorder [RCV003946223] Chr8:99871475 [GRCh38]
Chr8:100883703 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-16C>T single nucleotide variant Cohen syndrome [RCV001426947] Chr8:99859288 [GRCh38]
Chr8:100871516 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100133395)_(100134000_?)del deletion Cohen syndrome [RCV001388039] Chr8:100133395..100134000 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100147223)_(100155413_?)del deletion Cohen syndrome [RCV001388040] Chr8:100147223..100155413 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs) deletion Cohen syndrome [RCV001381105] Chr8:99818761..99818762 [GRCh38]
Chr8:100830989..100830990 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8362-8A>T single nucleotide variant Cohen syndrome [RCV001431270] Chr8:99818443 [GRCh38]
Chr8:100830671 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) single nucleotide variant Cohen syndrome [RCV001442266]|Inborn genetic diseases [RCV004038403]|VPS13B-related disorder [RCV003399230] Chr8:99821334 [GRCh38]
Chr8:100833562 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017890.5(VPS13B):c.4218C>T (p.Asp1406=) single nucleotide variant Cohen syndrome [RCV001458241] Chr8:99507830 [GRCh38]
Chr8:100520058 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7851G>A (p.Leu2617=) single nucleotide variant Cohen syndrome [RCV001452953] Chr8:99784386 [GRCh38]
Chr8:100796614 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5088G>A (p.Val1696=) single nucleotide variant Cohen syndrome [RCV001462503]|VPS13B-related disorder [RCV003983908] Chr8:99577501 [GRCh38]
Chr8:100589729 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10749C>T (p.Ala3583=) single nucleotide variant Cohen syndrome [RCV001455321] Chr8:99854138 [GRCh38]
Chr8:100866366 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2014-12A>G single nucleotide variant Cohen syndrome [RCV001481406] Chr8:99156537 [GRCh38]
Chr8:100168765 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3792A>G (p.Pro1264=) single nucleotide variant Cohen syndrome [RCV001504645] Chr8:99481724 [GRCh38]
Chr8:100493952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) single nucleotide variant Cohen syndrome [RCV001468514]|VPS13B-related disorder [RCV003900617]|not provided [RCV003434254] Chr8:99871607 [GRCh38]
Chr8:100883835 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.581-10T>C single nucleotide variant Cohen syndrome [RCV001487165]|not provided [RCV001796519] Chr8:99111088 [GRCh38]
Chr8:100123316 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10827C>G (p.Ala3609=) single nucleotide variant Cohen syndrome [RCV001490587] Chr8:99854216 [GRCh38]
Chr8:100866444 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6020A>G (p.Gln2007Arg) single nucleotide variant not provided [RCV001508616] Chr8:99661465 [GRCh38]
Chr8:100673693 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7845G>A (p.Glu2615=) single nucleotide variant Cohen syndrome [RCV001495520] Chr8:99784380 [GRCh38]
Chr8:100796608 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1944T>C (p.Cys648=) single nucleotide variant Cohen syndrome [RCV001399557] Chr8:99147941 [GRCh38]
Chr8:100160169 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7302A>G (p.Thr2434=) single nucleotide variant Cohen syndrome [RCV001437992] Chr8:99776829 [GRCh38]
Chr8:100789057 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6030C>T (p.Asp2010=) single nucleotide variant Cohen syndrome [RCV001401609] Chr8:99661475 [GRCh38]
Chr8:100673703 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9975T>C (p.Tyr3325=) single nucleotide variant Cohen syndrome [RCV001458330] Chr8:99848808 [GRCh38]
Chr8:100861036 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11208C>T (p.Ser3736=) single nucleotide variant Cohen syndrome [RCV001451167]|VPS13B-related disorder [RCV003900550] Chr8:99861939 [GRCh38]
Chr8:100874167 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+19G>A single nucleotide variant Cohen syndrome [RCV001513031] Chr8:99870906 [GRCh38]
Chr8:100883134 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.5910T>C (p.Asp1970=) single nucleotide variant Cohen syndrome [RCV001497865] Chr8:99661355 [GRCh38]
Chr8:100673583 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11895T>C (p.Val3965=) single nucleotide variant Cohen syndrome [RCV001453173] Chr8:99875567 [GRCh38]
Chr8:100887795 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.148-10G>A single nucleotide variant Cohen syndrome [RCV001500089] Chr8:99038413 [GRCh38]
Chr8:100050641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1470T>A (p.Gly490=) single nucleotide variant Cohen syndrome [RCV001503032] Chr8:99135640 [GRCh38]
Chr8:100147868 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6492C>T (p.Asn2164=) single nucleotide variant Cohen syndrome [RCV001467200] Chr8:99717208 [GRCh38]
Chr8:100729436 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9255A>G (p.Thr3085=) single nucleotide variant Cohen syndrome [RCV001506093] Chr8:99823903 [GRCh38]
Chr8:100836131 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1564-5G>T single nucleotide variant Cohen syndrome [RCV001468606] Chr8:99136660 [GRCh38]
Chr8:100148888 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10719C>T (p.Ser3573=) single nucleotide variant Cohen syndrome [RCV001487785] Chr8:99854108 [GRCh38]
Chr8:100866336 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5433C>T (p.Pro1811=) single nucleotide variant Cohen syndrome [RCV001450863] Chr8:99642023 [GRCh38]
Chr8:100654251 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7896T>C (p.Ser2632=) single nucleotide variant Cohen syndrome [RCV001417361] Chr8:99784431 [GRCh38]
Chr8:100796659 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6339T>C (p.Thr2113=) single nucleotide variant Cohen syndrome [RCV001476890]|VPS13B-related disorder [RCV004743518] Chr8:99699817 [GRCh38]
Chr8:100712045 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11307C>T (p.Val3769=) single nucleotide variant Cohen syndrome [RCV001438079] Chr8:99868380 [GRCh38]
Chr8:100880608 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=) single nucleotide variant Cohen syndrome [RCV001498530] Chr8:99135056 [GRCh38]
Chr8:100147284 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100146850)_(100287492_?)del deletion Cohen syndrome [RCV001388380] Chr8:100146850..100287492 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_99346108)_100589843del deletion Cohen syndrome [RCV001388381]   pathogenic
NC_000008.10:g.(?_100443745)_(100589881_?)del deletion Cohen syndrome [RCV001390750] Chr8:100443745..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100454619)_(100533248_?)del deletion Cohen syndrome [RCV001390751] Chr8:100454619..100533248 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100479632)_(100494040_?)del deletion Cohen syndrome [RCV001390752] Chr8:100479632..100494040 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100479622)_(100533258_?)del deletion Cohen syndrome [RCV001390753] Chr8:100479622..100533258 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100533117)_(100568891_?)del deletion Cohen syndrome [RCV001390754] Chr8:100533117..100568891 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10251T>G (p.Leu3417=) single nucleotide variant Cohen syndrome [RCV001477868] Chr8:99853640 [GRCh38]
Chr8:100865868 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10410A>G (p.Glu3470=) single nucleotide variant Cohen syndrome [RCV001498045]|Inborn genetic diseases [RCV002405175] Chr8:99853799 [GRCh38]
Chr8:100866027 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6132G>A (p.Lys2044=) single nucleotide variant Cohen syndrome [RCV001457071] Chr8:99699610 [GRCh38]
Chr8:100711838 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8362-8A>G single nucleotide variant Cohen syndrome [RCV001482123] Chr8:99818443 [GRCh38]
Chr8:100830671 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8850G>A (p.Lys2950=) single nucleotide variant Cohen syndrome [RCV001486358] Chr8:99819978 [GRCh38]
Chr8:100832206 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10776G>C (p.Ser3592=) single nucleotide variant Cohen syndrome [RCV001470714] Chr8:99854165 [GRCh38]
Chr8:100866393 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5355G>A (p.Gln1785=) single nucleotide variant Cohen syndrome [RCV001473851] Chr8:99641945 [GRCh38]
Chr8:100654173 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11526A>G (p.Glu3842=) single nucleotide variant Cohen syndrome [RCV001491263] Chr8:99871478 [GRCh38]
Chr8:100883706 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2589A>G (p.Thr863=) single nucleotide variant Cohen syndrome [RCV001458386]|not provided [RCV004706184] Chr8:99274271 [GRCh38]
Chr8:100286499 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4989C>T (p.Pro1663=) single nucleotide variant Cohen syndrome [RCV001452515]|VPS13B-related disorder [RCV004743499] Chr8:99575697 [GRCh38]
Chr8:100587925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9147T>C (p.Thr3049=) single nucleotide variant Cohen syndrome [RCV001458560] Chr8:99821446 [GRCh38]
Chr8:100833674 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1173A>T (p.Gly391=) single nucleotide variant Cohen syndrome [RCV001458629] Chr8:99121412 [GRCh38]
Chr8:100133640 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1479C>T (p.Tyr493=) single nucleotide variant Cohen syndrome [RCV001451463] Chr8:99135649 [GRCh38]
Chr8:100147877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-10T>C single nucleotide variant Cohen syndrome [RCV001486025] Chr8:99102943 [GRCh38]
Chr8:100115171 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3600A>G (p.Arg1200=) single nucleotide variant Cohen syndrome [RCV001468748] Chr8:99467568 [GRCh38]
Chr8:100479796 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-6C>G single nucleotide variant Cohen syndrome [RCV001474045] Chr8:99699519 [GRCh38]
Chr8:100711747 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9675C>T (p.Asp3225=) single nucleotide variant Cohen syndrome [RCV001474302] Chr8:99835257 [GRCh38]
Chr8:100847485 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10152T>C (p.Ala3384=) single nucleotide variant Cohen syndrome [RCV001452634] Chr8:99853541 [GRCh38]
Chr8:100865769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.69G>C (p.Pro23=) single nucleotide variant Cohen syndrome [RCV001440125] Chr8:99013857 [GRCh38]
Chr8:100026085 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2877C>A (p.Ile959=) single nucleotide variant Cohen syndrome [RCV001498205] Chr8:99384260 [GRCh38]
Chr8:100396488 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4974A>G (p.Arg1658=) single nucleotide variant Cohen syndrome [RCV001498266] Chr8:99575682 [GRCh38]
Chr8:100587910 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-4C>T single nucleotide variant Cohen syndrome [RCV001500369] Chr8:99821290 [GRCh38]
Chr8:100833518 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.63A>G (p.Leu21=) single nucleotide variant Cohen syndrome [RCV001464580] Chr8:99013851 [GRCh38]
Chr8:100026079 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3667-5C>T single nucleotide variant Cohen syndrome [RCV001471363] Chr8:99481594 [GRCh38]
Chr8:100493822 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7734G>A (p.Gln2578=) single nucleotide variant Cohen syndrome [RCV001454408] Chr8:99778986 [GRCh38]
Chr8:100791214 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3606A>G (p.Ser1202=) single nucleotide variant Cohen syndrome [RCV001498309] Chr8:99467574 [GRCh38]
Chr8:100479802 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+9_11495+11del microsatellite Cohen syndrome [RCV001465978] Chr8:99870893..99870895 [GRCh38]
Chr8:100883121..100883123 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3336A>G (p.Gly1112=) single nucleotide variant Cohen syndrome [RCV001465980] Chr8:99442526 [GRCh38]
Chr8:100454754 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-19T>A single nucleotide variant Cohen syndrome [RCV001483278] Chr8:99431518 [GRCh38]
Chr8:100443746 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2715T>C (p.His905=) single nucleotide variant Cohen syndrome [RCV001436326]|VPS13B-related disorder [RCV004743485] Chr8:99275145 [GRCh38]
Chr8:100287373 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5967G>A (p.Val1989=) single nucleotide variant Cohen syndrome [RCV001436489] Chr8:99661412 [GRCh38]
Chr8:100673640 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5448T>C (p.Ile1816=) single nucleotide variant Cohen syndrome [RCV001477819] Chr8:99642038 [GRCh38]
Chr8:100654266 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10828C>T (p.Leu3610=) single nucleotide variant Cohen syndrome [RCV001454449] Chr8:99854217 [GRCh38]
Chr8:100866445 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1564-8G>T single nucleotide variant Cohen syndrome [RCV001403989] Chr8:99136657 [GRCh38]
Chr8:100148885 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10053T>C (p.Asn3351=) single nucleotide variant Cohen syndrome [RCV001440524] Chr8:99848886 [GRCh38]
Chr8:100861114 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+14A>G single nucleotide variant Cohen syndrome [RCV001443165] Chr8:99511526 [GRCh38]
Chr8:100523754 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6951A>G (p.Pro2317=) single nucleotide variant Cohen syndrome [RCV001451807]|Inborn genetic diseases [RCV002368388] Chr8:99720948 [GRCh38]
Chr8:100733176 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11518A>C (p.Arg3840=) single nucleotide variant Cohen syndrome [RCV001455833]|VPS13B-related disorder [RCV004743503] Chr8:99871470 [GRCh38]
Chr8:100883698 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8595T>C (p.Leu2865=) single nucleotide variant Cohen syndrome [RCV001483404] Chr8:99818862 [GRCh38]
Chr8:100831090 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8430del (p.Val2811fs) deletion Cohen syndrome [RCV001380096] Chr8:99818518 [GRCh38]
Chr8:100830746 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter) single nucleotide variant Cohen syndrome [RCV001380191] Chr8:99817672 [GRCh38]
Chr8:100829900 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.234A>G (p.Pro78=) single nucleotide variant Cohen syndrome [RCV001415843]|not provided [RCV003426087] Chr8:99038509 [GRCh38]
Chr8:100050737 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11883C>G (p.Pro3961=) single nucleotide variant Cohen syndrome [RCV001483475]|VPS13B-related disorder [RCV004743521] Chr8:99875555 [GRCh38]
Chr8:100887783 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-16_2334-11del deletion Cohen syndrome [RCV001466212] Chr8:99192857..99192862 [GRCh38]
Chr8:100205085..100205090 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4704C>T (p.Asp1568=) single nucleotide variant Cohen syndrome [RCV001505268] Chr8:99520969 [GRCh38]
Chr8:100533197 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5331A>G (p.Lys1777=) single nucleotide variant Cohen syndrome [RCV001467779] Chr8:99641921 [GRCh38]
Chr8:100654149 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10899C>A (p.Gly3633=) single nucleotide variant Cohen syndrome [RCV001420031] Chr8:99859335 [GRCh38]
Chr8:100871563 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5889C>T (p.Ala1963=) single nucleotide variant Cohen syndrome [RCV001438600] Chr8:99642479 [GRCh38]
Chr8:100654707 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11392+17C>G single nucleotide variant Cohen syndrome [RCV001440849] Chr8:99868482 [GRCh38]
Chr8:100880710 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3807A>C (p.Ile1269=) single nucleotide variant Cohen syndrome [RCV001452008]|VPS13B-related disorder [RCV003900555] Chr8:99481739 [GRCh38]
Chr8:100493967 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11739T>C (p.Asp3913=) single nucleotide variant Cohen syndrome [RCV001478797] Chr8:99871691 [GRCh38]
Chr8:100883919 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5909-10G>A single nucleotide variant Cohen syndrome [RCV001456065] Chr8:99661344 [GRCh38]
Chr8:100673572 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6306T>C (p.Ala2102=) single nucleotide variant Cohen syndrome [RCV001463296] Chr8:99699784 [GRCh38]
Chr8:100712012 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11148G>A (p.Arg3716=) single nucleotide variant Cohen syndrome [RCV001434719] Chr8:99861879 [GRCh38]
Chr8:100874107 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8691G>A (p.Lys2897=) single nucleotide variant Cohen syndrome [RCV001436645]|VPS13B-related disorder [RCV004743486] Chr8:99819481 [GRCh38]
Chr8:100831709 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2160A>G (p.Gln720=) single nucleotide variant Cohen syndrome [RCV001400327] Chr8:99156695 [GRCh38]
Chr8:100168923 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7395C>T (p.Phe2465=) single nucleotide variant Cohen syndrome [RCV001483554] Chr8:99776922 [GRCh38]
Chr8:100789150 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10221G>C (p.Gly3407=) single nucleotide variant Cohen syndrome [RCV001466297] Chr8:99853610 [GRCh38]
Chr8:100865838 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.453A>G (p.Val151=) single nucleotide variant Cohen syndrome [RCV001485185] Chr8:99102993 [GRCh38]
Chr8:100115221 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.732C>T (p.Asn244=) single nucleotide variant Cohen syndrome [RCV001485196]|VPS13B-related disorder [RCV004743524] Chr8:99111249 [GRCh38]
Chr8:100123477 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11124C>T (p.Tyr3708=) single nucleotide variant Cohen syndrome [RCV001398273] Chr8:99861855 [GRCh38]
Chr8:100874083 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3381G>A (p.Gly1127=) single nucleotide variant Cohen syndrome [RCV001398410] Chr8:99442571 [GRCh38]
Chr8:100454799 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.938-1G>C single nucleotide variant Cohen syndrome [RCV001378898] Chr8:99121176 [GRCh38]
Chr8:100133404 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1245A>G (p.Pro415=) single nucleotide variant Cohen syndrome [RCV001418224] Chr8:99134670 [GRCh38]
Chr8:100146898 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4446A>G (p.Leu1482=) single nucleotide variant Cohen syndrome [RCV001420077] Chr8:99511325 [GRCh38]
Chr8:100523553 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100654029)_(100712170_?)del deletion Cohen syndrome [RCV001380366] Chr8:100654029..100712170 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8073G>A (p.Gln2691=) single nucleotide variant Cohen syndrome [RCV001428033] Chr8:99809506 [GRCh38]
Chr8:100821734 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs) microsatellite Cohen syndrome [RCV001389368] Chr8:99832574..99832575 [GRCh38]
Chr8:100844802..100844803 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4878C>T (p.Val1626=) single nucleotide variant Cohen syndrome [RCV001443651] Chr8:99556582 [GRCh38]
Chr8:100568810 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2646C>G (p.Ala882=) single nucleotide variant Cohen syndrome [RCV001443681] Chr8:99274328 [GRCh38]
Chr8:100286556 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7852C>A (p.Arg2618=) single nucleotide variant Cohen syndrome [RCV001459346] Chr8:99784387 [GRCh38]
Chr8:100796615 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6312C>T (p.Ser2104=) single nucleotide variant Cohen syndrome [RCV001461844] Chr8:99699790 [GRCh38]
Chr8:100712018 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10878T>C (p.Val3626=) single nucleotide variant Cohen syndrome [RCV001454625]|VPS13B-related disorder [RCV003955991] Chr8:99859314 [GRCh38]
Chr8:100871542 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6750A>G (p.Gln2250=) single nucleotide variant Cohen syndrome [RCV001424011] Chr8:99720437 [GRCh38]
Chr8:100732665 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter) single nucleotide variant Cohen syndrome [RCV001384101] Chr8:99274242 [GRCh38]
Chr8:100286470 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7227A>G (p.Gln2409=) single nucleotide variant Cohen syndrome [RCV001418482] Chr8:99766950 [GRCh38]
Chr8:100779178 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=) single nucleotide variant Cohen syndrome [RCV001400763]|VPS13B-related disorder [RCV004743456] Chr8:99817713 [GRCh38]
Chr8:100829941 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.318T>C (p.Asn106=) single nucleotide variant Cohen syndrome [RCV001418016] Chr8:99096338 [GRCh38]
Chr8:100108566 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-8C>T single nucleotide variant Cohen syndrome [RCV001427809]|VPS13B-related disorder [RCV004743480] Chr8:99501679 [GRCh38]
Chr8:100513907 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8836C>T (p.Leu2946=) single nucleotide variant Cohen syndrome [RCV001443801] Chr8:99819964 [GRCh38]
Chr8:100832192 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1452C>T (p.Asp484=) single nucleotide variant Cohen syndrome [RCV001432905] Chr8:99135622 [GRCh38]
Chr8:100147850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1623G>A (p.Leu541=) single nucleotide variant Cohen syndrome [RCV001496947] Chr8:99136724 [GRCh38]
Chr8:100148952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11418T>C (p.Ser3806=) single nucleotide variant Cohen syndrome [RCV001452262] Chr8:99870810 [GRCh38]
Chr8:100883038 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1207-10T>C single nucleotide variant Cohen syndrome [RCV001461945] Chr8:99134622 [GRCh38]
Chr8:100146850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8793-4A>T single nucleotide variant Cohen syndrome [RCV001499419]|VPS13B-related disorder [RCV003956101] Chr8:99819917 [GRCh38]
Chr8:100832145 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-16C>G single nucleotide variant Cohen syndrome [RCV001501002] Chr8:99859288 [GRCh38]
Chr8:100871516 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4080T>A (p.Ala1360=) single nucleotide variant Cohen syndrome [RCV001393764] Chr8:99502873 [GRCh38]
Chr8:100515101 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3828C>T (p.Thr1276=) single nucleotide variant Cohen syndrome [RCV001437082] Chr8:99481760 [GRCh38]
Chr8:100493988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+10T>C single nucleotide variant Cohen syndrome [RCV001437388] Chr8:99135743 [GRCh38]
Chr8:100147971 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+7A>G single nucleotide variant Cohen syndrome [RCV001425947] Chr8:99275261 [GRCh38]
Chr8:100287489 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100654019)_(100673739_?)del deletion Cohen syndrome [RCV001380365] Chr8:100654019..100673739 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10326T>G (p.Ala3442=) single nucleotide variant Cohen syndrome [RCV001428002] Chr8:99853715 [GRCh38]
Chr8:100865943 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-4A>G single nucleotide variant Cohen syndrome [RCV001404802] Chr8:99699521 [GRCh38]
Chr8:100711749 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10797C>T (p.Ile3599=) single nucleotide variant Cohen syndrome [RCV001404831] Chr8:99854186 [GRCh38]
Chr8:100866414 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9183+8C>G single nucleotide variant Cohen syndrome [RCV001499511] Chr8:99821490 [GRCh38]
Chr8:100833718 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-6T>A single nucleotide variant Cohen syndrome [RCV001398662] Chr8:99467408 [GRCh38]
Chr8:100479636 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844-8A>C single nucleotide variant Cohen syndrome [RCV001393850] Chr8:99147833 [GRCh38]
Chr8:100160061 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1456T>C (p.Leu486=) single nucleotide variant Cohen syndrome [RCV001426318] Chr8:99135626 [GRCh38]
Chr8:100147854 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100821603)_(100821758_?)del deletion Cohen syndrome [RCV001379211] Chr8:100821603..100821758 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100515082)_100589871del deletion Cohen syndrome [RCV001379212]   likely pathogenic
NC_000008.10:g.(?_100443755)_(100443902_?)dup duplication Cohen syndrome [RCV001379213] Chr8:100443755..100443902 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9615-9C>T single nucleotide variant Cohen syndrome [RCV001437516] Chr8:99835188 [GRCh38]
Chr8:100847416 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11571G>A (p.Gln3857=) single nucleotide variant Cohen syndrome [RCV001489072] Chr8:99871523 [GRCh38]
Chr8:100883751 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5958A>G (p.Leu1986=) single nucleotide variant Cohen syndrome [RCV001489116] Chr8:99661403 [GRCh38]
Chr8:100673631 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4080T>C (p.Ala1360=) single nucleotide variant Cohen syndrome [RCV001398620] Chr8:99502873 [GRCh38]
Chr8:100515101 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs) deletion Cohen syndrome [RCV001386140] Chr8:99868324 [GRCh38]
Chr8:100880552 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.405A>G (p.Leu135=) single nucleotide variant Cohen syndrome [RCV001441459] Chr8:99096425 [GRCh38]
Chr8:100108653 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11993G>A (p.Ter3998=) single nucleotide variant Cohen syndrome [RCV001441461] Chr8:99875665 [GRCh38]
Chr8:100887893 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.504C>T (p.Val168=) single nucleotide variant Cohen syndrome [RCV001441519] Chr8:99103044 [GRCh38]
Chr8:100115272 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2208+9del deletion Cohen syndrome [RCV001512182] Chr8:99156749 [GRCh38]
Chr8:100168977 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11493C>T (p.Val3831=) single nucleotide variant Cohen syndrome [RCV001454949] Chr8:99870885 [GRCh38]
Chr8:100883113 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=) single nucleotide variant Cohen syndrome [RCV001398904]|VPS13B-related disorder [RCV003898398]|not provided [RCV003433135] Chr8:99275181 [GRCh38]
Chr8:100287409 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+1G>T single nucleotide variant Cohen syndrome [RCV001379285] Chr8:99854257 [GRCh38]
Chr8:100866485 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6960A>G (p.Arg2320=) single nucleotide variant Cohen syndrome [RCV001484010] Chr8:99720957 [GRCh38]
Chr8:100733185 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3445+227A>G single nucleotide variant not provided [RCV001538854] Chr8:99442862 [GRCh38]
Chr8:100455090 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.292-270A>C single nucleotide variant not provided [RCV001538929] Chr8:99096042 [GRCh38]
Chr8:100108270 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1651+9T>A single nucleotide variant Cohen syndrome [RCV001495170] Chr8:99136761 [GRCh38]
Chr8:100148989 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1764C>T (p.Ser588=) single nucleotide variant Cohen syndrome [RCV001424568] Chr8:99143086 [GRCh38]
Chr8:100155314 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4692T>C (p.Ala1564=) single nucleotide variant Cohen syndrome [RCV001482496] Chr8:99520957 [GRCh38]
Chr8:100533185 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1975T>C (p.Leu659=) single nucleotide variant Cohen syndrome [RCV001489750] Chr8:99147972 [GRCh38]
Chr8:100160200 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2516-5A>T single nucleotide variant Cohen syndrome [RCV001398895]|not provided [RCV004706096] Chr8:99274193 [GRCh38]
Chr8:100286421 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3027A>G (p.Gln1009=) single nucleotide variant Cohen syndrome [RCV001401171]|VPS13B-related disorder [RCV004743457] Chr8:99391649 [GRCh38]
Chr8:100403877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6648T>C (p.Gly2216=) single nucleotide variant Cohen syndrome [RCV001441774]|VPS13B-related disorder [RCV004743489] Chr8:99717364 [GRCh38]
Chr8:100729592 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2830G>A (p.Val944Ile) single nucleotide variant not provided [RCV001508613] Chr8:99384213 [GRCh38]
Chr8:100396441 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=) single nucleotide variant Cohen syndrome [RCV001479616]|VPS13B-related disorder [RCV004743519]|not specified [RCV001820177] Chr8:99823948 [GRCh38]
Chr8:100836176 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10968G>T (p.Gly3656=) single nucleotide variant Cohen syndrome [RCV001462357] Chr8:99859404 [GRCh38]
Chr8:100871632 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.309T>C (p.Cys103=) single nucleotide variant Cohen syndrome [RCV001479651] Chr8:99096329 [GRCh38]
Chr8:100108557 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2209-8T>C single nucleotide variant Cohen syndrome [RCV001394314] Chr8:99170031 [GRCh38]
Chr8:100182259 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=) single nucleotide variant Cohen syndrome [RCV001522594] Chr8:99779004 [GRCh38]
Chr8:100791232 [GRCh37]
Chr8:8q22.2		 benign
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=) single nucleotide variant Cohen syndrome [RCV001505818]|VPS13B-related disorder [RCV004743541]|not provided [RCV003434296] Chr8:99507792 [GRCh38]
Chr8:100520020 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.937+8A>G single nucleotide variant Cohen syndrome [RCV001424949] Chr8:99115882 [GRCh38]
Chr8:100128110 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.297C>T (p.Asp99=) single nucleotide variant Cohen syndrome [RCV001435960] Chr8:99096317 [GRCh38]
Chr8:100108545 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4950-90A>T single nucleotide variant not provided [RCV001732707] Chr8:99575568 [GRCh38]
Chr8:100587796 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3445+20dup duplication Cohen syndrome [RCV003108574] Chr8:99442648..99442649 [GRCh38]
Chr8:100454876..100454877 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.10613G>A (p.Gly3538Glu) single nucleotide variant Cohen syndrome [RCV003109115] Chr8:99854002 [GRCh38]
Chr8:100866230 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2507del (p.Leu836fs) deletion Cohen syndrome [RCV003108325] Chr8:99193049 [GRCh38]
Chr8:100205277 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu) single nucleotide variant Cohen syndrome [RCV003108333]|VPS13B-related disorder [RCV003936695]|not provided [RCV004790473] Chr8:99809428 [GRCh38]
Chr8:100821656 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) deletion Cohen syndrome [RCV001784017] Chr8:99835282 [GRCh38]
Chr8:100847510 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) deletion Cohen syndrome [RCV001784019] Chr8:99832432..99832436 [GRCh38]
Chr8:100844660..100844664 [GRCh37]
Chr8:8q22.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.11787C>G (p.Asn3929Lys) single nucleotide variant Cohen syndrome [RCV003104878] Chr8:99875459 [GRCh38]
Chr8:100887687 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) single nucleotide variant Cohen syndrome [RCV001780242] Chr8:99121283 [GRCh38]
Chr8:100133511 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala) single nucleotide variant Cohen syndrome [RCV001784172]|Inborn genetic diseases [RCV004040816] Chr8:99142979 [GRCh38]
Chr8:100155207 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2934+263del deletion not provided [RCV001733351] Chr8:99384579 [GRCh38]
Chr8:100396807 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1651+1G>A single nucleotide variant not provided [RCV002254513] Chr8:99136753 [GRCh38]
Chr8:100148981 [GRCh37]
Chr8:8q22.2		 not provided
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) deletion Cohen syndrome [RCV002255239] Chr8:99575705 [GRCh38]
Chr8:100587933 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) duplication Cohen syndrome [RCV001784018] Chr8:99875479..99875480 [GRCh38]
Chr8:100887707..100887708 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2867_2869del (p.Ile956_Asp957delinsAsn) deletion not provided [RCV001772604] Chr8:99384250..99384252 [GRCh38]
Chr8:100396478..100396480 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) deletion Cohen syndrome [RCV001784016] Chr8:99135651 [GRCh38]
Chr8:100147879 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs) deletion Cohen syndrome [RCV001785125] Chr8:99818762 [GRCh38]
Chr8:100830990 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1679C>G (p.Ser560Ter) single nucleotide variant not provided [RCV003237987] Chr8:99143001 [GRCh38]
Chr8:100155229 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11884C>T (p.Pro3962Ser) single nucleotide variant not provided [RCV001754363] Chr8:99875556 [GRCh38]
Chr8:100887784 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5436T>G (p.Phe1812Leu) single nucleotide variant Cohen syndrome [RCV003772054]|not provided [RCV001774577] Chr8:99642026 [GRCh38]
Chr8:100654254 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4290A>T (p.Lys1430Asn) single nucleotide variant not provided [RCV001772998] Chr8:99511169 [GRCh38]
Chr8:100523397 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8045G>A (p.Arg2682Gln) single nucleotide variant VPS13B-related disorder [RCV003407794]|not provided [RCV001767565] Chr8:99809478 [GRCh38]
Chr8:100821706 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile) single nucleotide variant Cohen syndrome [RCV002540334]|not provided [RCV001774070] Chr8:99853837 [GRCh38]
Chr8:100866065 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6931A>T (p.Met2311Leu) single nucleotide variant not provided [RCV001765579] Chr8:99720928 [GRCh38]
Chr8:100733156 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5329A>C (p.Lys1777Gln) single nucleotide variant not provided [RCV001770592] Chr8:99641919 [GRCh38]
Chr8:100654147 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7128del (p.Ser2376fs) deletion Cohen syndrome [RCV001785124] Chr8:99766851 [GRCh38]
Chr8:100779079 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7145A>C (p.Gln2382Pro) single nucleotide variant not provided [RCV001760895] Chr8:99766868 [GRCh38]
Chr8:100779096 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met) single nucleotide variant Cohen syndrome [RCV002540264]|VPS13B-related disorder [RCV004743570]|not provided [RCV001766984] Chr8:99467432 [GRCh38]
Chr8:100479660 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) single nucleotide variant Cohen syndrome [RCV002478024]|Inborn genetic diseases [RCV002544325]|VPS13B-related disorder [RCV003416458]|not provided [RCV001794784] Chr8:99870826 [GRCh38]
Chr8:100883054 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5135T>C (p.Phe1712Ser) single nucleotide variant not provided [RCV001758068] Chr8:99577548 [GRCh38]
Chr8:100589776 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8441G>A (p.Arg2814Gln) single nucleotide variant Cohen syndrome [RCV001882839]|not provided [RCV001758245] Chr8:99818530 [GRCh38]
Chr8:100830758 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter) single nucleotide variant Cohen syndrome [RCV001808010] Chr8:99384288 [GRCh38]
Chr8:100396516 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1664A>G (p.Gln555Arg) single nucleotide variant not specified [RCV001820608] Chr8:99142986 [GRCh38]
Chr8:100155214 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4550G>T (p.Arg1517Leu) single nucleotide variant not specified [RCV001817306] Chr8:99511429 [GRCh38]
Chr8:100523657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys) single nucleotide variant Cohen syndrome [RCV001869781]|VPS13B-related disorder [RCV003407829]|not specified [RCV001817691] Chr8:99819518 [GRCh38]
Chr8:100831746 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) single nucleotide variant Cohen syndrome [RCV001869690]|Inborn genetic diseases [RCV002449434]|VPS13B-related disorder [RCV003956397]|not provided [RCV004770214]|not specified [RCV001819389] Chr8:99818713 [GRCh38]
Chr8:100830941 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10196C>T (p.Ala3399Val) single nucleotide variant not provided [RCV004801888] Chr8:99853585 [GRCh38]
Chr8:100865813 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6853G>A (p.Val2285Ile) single nucleotide variant not provided [RCV004809115] Chr8:99720540 [GRCh38]
Chr8:100732768 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs) duplication Cohen syndrome [RCV001806373] Chr8:99661380..99661381 [GRCh38]
Chr8:100673608..100673609 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7654A>T (p.Met2552Leu) single nucleotide variant Cohen syndrome [RCV002001906] Chr8:99778906 [GRCh38]
Chr8:100791134 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7536G>T (p.Trp2512Cys) single nucleotide variant Cohen syndrome [RCV001863712] Chr8:99778788 [GRCh38]
Chr8:100791016 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2783C>G (p.Thr928Arg) single nucleotide variant Cohen syndrome [RCV001988265] Chr8:99275213 [GRCh38]
Chr8:100287441 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu) single nucleotide variant Cohen syndrome [RCV001864260]|VPS13B-related disorder [RCV003401783] Chr8:99575752 [GRCh38]
Chr8:100587980 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter) single nucleotide variant Cohen syndrome [RCV001896694] Chr8:99384262 [GRCh38]
Chr8:100396490 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10518A>G (p.Leu3506=) single nucleotide variant Cohen syndrome [RCV002008264] Chr8:99853907 [GRCh38]
Chr8:100866135 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.6970C>G (p.Leu2324Val) single nucleotide variant Cohen syndrome [RCV002044793] Chr8:99720967 [GRCh38]
Chr8:100733195 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9743-4T>G single nucleotide variant Cohen syndrome [RCV001892873] Chr8:99835535 [GRCh38]
Chr8:100847763 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8965G>T (p.Gly2989Cys) single nucleotide variant Cohen syndrome [RCV001988281] Chr8:99820093 [GRCh38]
Chr8:100832321 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.585T>A (p.Thr195=) single nucleotide variant Cohen syndrome [RCV002009050] Chr8:99111102 [GRCh38]
Chr8:100123330 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del) deletion Cohen syndrome [RCV002009051]|VPS13B-related disorder [RCV004744200] Chr8:99875485..99875487 [GRCh38]
Chr8:100887713..100887715 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10634T>A (p.Met3545Lys) single nucleotide variant Cohen syndrome [RCV002044715]|Inborn genetic diseases [RCV004038900] Chr8:99854023 [GRCh38]
Chr8:100866251 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10993G>C (p.Val3665Leu) single nucleotide variant Cohen syndrome [RCV001874091] Chr8:99859429 [GRCh38]
Chr8:100871657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4885G>C (p.Gly1629Arg) single nucleotide variant Cohen syndrome [RCV002025015] Chr8:99556589 [GRCh38]
Chr8:100568817 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3010C>T (p.Pro1004Ser) single nucleotide variant Cohen syndrome [RCV001988613] Chr8:99391632 [GRCh38]
Chr8:100403860 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.173T>C (p.Leu58Ser) single nucleotide variant Cohen syndrome [RCV001871322] Chr8:99038448 [GRCh38]
Chr8:100050676 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8614C>A (p.Gln2872Lys) single nucleotide variant Cohen syndrome [RCV001950052] Chr8:99818881 [GRCh38]
Chr8:100831109 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11095G>A (p.Asp3699Asn) single nucleotide variant Cohen syndrome [RCV001915042] Chr8:99861826 [GRCh38]
Chr8:100874054 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7691A>G (p.Asp2564Gly) single nucleotide variant Cohen syndrome [RCV001864681] Chr8:99778943 [GRCh38]
Chr8:100791171 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11876A>T (p.Glu3959Val) single nucleotide variant Cohen syndrome [RCV001985661] Chr8:99875548 [GRCh38]
Chr8:100887776 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.161C>T (p.Pro54Leu) single nucleotide variant Cohen syndrome [RCV001928283] Chr8:99038436 [GRCh38]
Chr8:100050664 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2887T>G (p.Trp963Gly) single nucleotide variant Cohen syndrome [RCV001928959] Chr8:99384270 [GRCh38]
Chr8:100396498 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11572G>C (p.Glu3858Gln) single nucleotide variant Cohen syndrome [RCV001874526] Chr8:99871524 [GRCh38]
Chr8:100883752 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742+2dup duplication Cohen syndrome [RCV001929598]|VPS13B-related disorder [RCV004743659] Chr8:99835325..99835326 [GRCh38]
Chr8:100847553..100847554 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-21_9331-3del deletion Cohen syndrome [RCV001971681] Chr8:99832342..99832360 [GRCh38]
Chr8:100844570..100844588 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.322A>G (p.Thr108Ala) single nucleotide variant Cohen syndrome [RCV002041968] Chr8:99096342 [GRCh38]
Chr8:100108570 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10337G>T (p.Cys3446Phe) single nucleotide variant Cohen syndrome [RCV001987950] Chr8:99853726 [GRCh38]
Chr8:100865954 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4792G>A (p.Glu1598Lys) single nucleotide variant Cohen syndrome [RCV002024773] Chr8:99556496 [GRCh38]
Chr8:100568724 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10664T>C (p.Val3555Ala) single nucleotide variant Cohen syndrome [RCV002044709] Chr8:99854053 [GRCh38]
Chr8:100866281 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2924A>G (p.His975Arg) single nucleotide variant Cohen syndrome [RCV001987955] Chr8:99384307 [GRCh38]
Chr8:100396535 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6673G>C (p.Glu2225Gln) single nucleotide variant Cohen syndrome [RCV001915442] Chr8:99720360 [GRCh38]
Chr8:100732588 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7276A>G (p.Thr2426Ala) single nucleotide variant Cohen syndrome [RCV001988838] Chr8:99776803 [GRCh38]
Chr8:100789031 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7248-1G>C single nucleotide variant Cohen syndrome [RCV002005656] Chr8:99776774 [GRCh38]
Chr8:100789002 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.335C>A (p.Thr112Asn) single nucleotide variant Cohen syndrome [RCV002007749] Chr8:99096355 [GRCh38]
Chr8:100108583 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg) single nucleotide variant Cohen syndrome [RCV002045345]|Inborn genetic diseases [RCV002398091]|VPS13B-related disorder [RCV004744205] Chr8:99778875 [GRCh38]
Chr8:100791103 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6592G>A (p.Gly2198Arg) single nucleotide variant Cohen syndrome [RCV001929625]|VPS13B-related disorder [RCV004743660] Chr8:99717308 [GRCh38]
Chr8:100729536 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7231G>A (p.Gly2411Arg) single nucleotide variant Cohen syndrome [RCV001950263] Chr8:99766954 [GRCh38]
Chr8:100779182 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1727G>C (p.Ser576Thr) single nucleotide variant Cohen syndrome [RCV001872333] Chr8:99143049 [GRCh38]
Chr8:100155277 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6358A>G (p.Met2120Val) single nucleotide variant Cohen syndrome [RCV001964321] Chr8:99699836 [GRCh38]
Chr8:100712064 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4551C>T (p.Arg1517=) single nucleotide variant Cohen syndrome [RCV002002030]|Inborn genetic diseases [RCV002331488] Chr8:99511430 [GRCh38]
Chr8:100523658 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys) single nucleotide variant Cohen syndrome [RCV001913949] Chr8:99717245 [GRCh38]
Chr8:100729473 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4334A>T (p.Glu1445Val) single nucleotide variant Cohen syndrome [RCV001874182] Chr8:99511213 [GRCh38]
Chr8:100523441 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10570C>T (p.Leu3524Phe) single nucleotide variant Cohen syndrome [RCV001971121] Chr8:99853959 [GRCh38]
Chr8:100866187 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.112A>T (p.Ser38Cys) single nucleotide variant Cohen syndrome [RCV001911193] Chr8:99013900 [GRCh38]
Chr8:100026128 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8087T>C (p.Val2696Ala) single nucleotide variant Cohen syndrome [RCV001913983] Chr8:99809520 [GRCh38]
Chr8:100821748 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6749A>C (p.Gln2250Pro) single nucleotide variant Cohen syndrome [RCV002044308] Chr8:99720436 [GRCh38]
Chr8:100732664 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10320C>G (p.His3440Gln) single nucleotide variant Cohen syndrome [RCV001929286] Chr8:99853709 [GRCh38]
Chr8:100865937 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2648C>T (p.Pro883Leu) single nucleotide variant Cohen syndrome [RCV001988186] Chr8:99274330 [GRCh38]
Chr8:100286558 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer) deletion Cohen syndrome [RCV001908640] Chr8:99115800 [GRCh38]
Chr8:100128028 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4640A>G (p.Gln1547Arg) single nucleotide variant Cohen syndrome [RCV001971149] Chr8:99520905 [GRCh38]
Chr8:100533133 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4569T>C (p.Tyr1523=) single nucleotide variant Cohen syndrome [RCV001929665] Chr8:99511448 [GRCh38]
Chr8:100523676 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter) single nucleotide variant Cohen syndrome [RCV002004524] Chr8:99861855 [GRCh38]
Chr8:100874083 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6451C>T (p.Pro2151Ser) single nucleotide variant Cohen syndrome [RCV002044369] Chr8:99699929 [GRCh38]
Chr8:100712157 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3535A>G (p.Met1179Val) single nucleotide variant Cohen syndrome [RCV001914089]|VPS13B-related disorder [RCV004743653] Chr8:99467503 [GRCh38]
Chr8:100479731 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3013T>A (p.Leu1005Met) single nucleotide variant Cohen syndrome [RCV001896120] Chr8:99391635 [GRCh38]
Chr8:100403863 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2897A>G (p.Tyr966Cys) single nucleotide variant Cohen syndrome [RCV001950132] Chr8:99384280 [GRCh38]
Chr8:100396508 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.249C>G (p.Ile83Met) single nucleotide variant Cohen syndrome [RCV001915272] Chr8:99038524 [GRCh38]
Chr8:100050752 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2098C>G (p.Leu700Val) single nucleotide variant Cohen syndrome [RCV002041622] Chr8:99156633 [GRCh38]
Chr8:100168861 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11912T>C (p.Leu3971Pro) single nucleotide variant Cohen syndrome [RCV002005832] Chr8:99875584 [GRCh38]
Chr8:100887812 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1097T>C (p.Phe366Ser) single nucleotide variant Cohen syndrome [RCV001949718] Chr8:99121336 [GRCh38]
Chr8:100133564 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8735A>G (p.Tyr2912Cys) single nucleotide variant Cohen syndrome [RCV001988077]|VPS13B-related disorder [RCV003958438] Chr8:99819525 [GRCh38]
Chr8:100831753 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3870+1G>A single nucleotide variant Cohen syndrome [RCV002044466] Chr8:99481803 [GRCh38]
Chr8:100494031 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs) duplication Cohen syndrome [RCV001895535] Chr8:99511406..99511407 [GRCh38]
Chr8:100523634..100523635 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter) single nucleotide variant Cohen syndrome [RCV001949369] Chr8:99809401 [GRCh38]
Chr8:100821629 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11638C>G (p.Gln3880Glu) single nucleotide variant Cohen syndrome [RCV002044498] Chr8:99871590 [GRCh38]
Chr8:100883818 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter) single nucleotide variant Cohen syndrome [RCV001895910] Chr8:99192876 [GRCh38]
Chr8:100205104 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2817C>A (p.His939Gln) single nucleotide variant Cohen syndrome [RCV001929100]|VPS13B-related disorder [RCV004743657] Chr8:99275247 [GRCh38]
Chr8:100287475 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4060G>A (p.Glu1354Lys) single nucleotide variant Cohen syndrome [RCV001895925] Chr8:99502853 [GRCh38]
Chr8:100515081 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu) single nucleotide variant Cohen syndrome [RCV001949979]|not provided [RCV003149007] Chr8:99192973 [GRCh38]
Chr8:100205201 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100205084)_(100454883_?)del deletion Cohen syndrome [RCV002007243] Chr8:100205084..100454883 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs) duplication Cohen syndrome [RCV002007374] Chr8:99832600..99832601 [GRCh38]
Chr8:100844828..100844829 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11929G>T (p.Ala3977Ser) single nucleotide variant Cohen syndrome [RCV001914583] Chr8:99875601 [GRCh38]
Chr8:100887829 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4708C>G (p.Pro1570Ala) single nucleotide variant Cohen syndrome [RCV001950494] Chr8:99520973 [GRCh38]
Chr8:100533201 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs) microsatellite Cohen syndrome [RCV002007417] Chr8:99193053..99193054 [GRCh38]
Chr8:100205281..100205282 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter) single nucleotide variant Cohen syndrome [RCV001872831] Chr8:99556511 [GRCh38]
Chr8:100568739 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100403775)_(100568891_?)del deletion Cohen syndrome [RCV001949445] Chr8:100403775..100568891 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs) deletion Cohen syndrome [RCV001985331] Chr8:99870863..99870866 [GRCh38]
Chr8:100883091..100883094 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:100638488-100732693) copy number loss not specified [RCV002053788] Chr8:100638488..100732693 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter) duplication Cohen syndrome [RCV001893711] Chr8:99819986..99819987 [GRCh38]
Chr8:100832214..100832215 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11206A>T (p.Ser3736Cys) single nucleotide variant Cohen syndrome [RCV002003665] Chr8:99861937 [GRCh38]
Chr8:100874165 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) single nucleotide variant Cohen syndrome [RCV001894062] Chr8:99784454 [GRCh38]
Chr8:100796682 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11617G>C (p.Val3873Leu) single nucleotide variant Cohen syndrome [RCV001966017] Chr8:99871569 [GRCh38]
Chr8:100883797 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3026A>T (p.Gln1009Leu) single nucleotide variant Cohen syndrome [RCV001967704] Chr8:99391648 [GRCh38]
Chr8:100403876 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3327C>T (p.Ser1109=) single nucleotide variant Cohen syndrome [RCV001967212] Chr8:99442517 [GRCh38]
Chr8:100454745 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1469G>A (p.Gly490Asp) single nucleotide variant Cohen syndrome [RCV002043103] Chr8:99135639 [GRCh38]
Chr8:100147867 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4349A>G (p.His1450Arg) single nucleotide variant Cohen syndrome [RCV002005864] Chr8:99511228 [GRCh38]
Chr8:100523456 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.60C>A (p.Asn20Lys) single nucleotide variant Cohen syndrome [RCV001965115] Chr8:99013848 [GRCh38]
Chr8:100026076 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2677C>G (p.Pro893Ala) single nucleotide variant Cohen syndrome [RCV001968986] Chr8:99275107 [GRCh38]
Chr8:100287335 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs) deletion Cohen syndrome [RCV001894136] Chr8:99699595 [GRCh38]
Chr8:100711823 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.706A>G (p.Thr236Ala) single nucleotide variant Cohen syndrome [RCV001911547]|VPS13B-related disorder [RCV004743633] Chr8:99111223 [GRCh38]
Chr8:100123451 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4208C>T (p.Ser1403Phe) single nucleotide variant Cohen syndrome [RCV001911562] Chr8:99507820 [GRCh38]
Chr8:100520048 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100533117)_(100589871_?)del deletion Cohen syndrome [RCV001946918] Chr8:100533117..100589871 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10255T>C (p.Cys3419Arg) single nucleotide variant Cohen syndrome [RCV002020505] Chr8:99853644 [GRCh38]
Chr8:100865872 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11753G>A (p.Gly3918Glu) single nucleotide variant Cohen syndrome [RCV001968851] Chr8:99875425 [GRCh38]
Chr8:100887653 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.704G>T (p.Arg235Ile) single nucleotide variant Cohen syndrome [RCV001889013] Chr8:99111221 [GRCh38]
Chr8:100123449 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.148-2A>G single nucleotide variant Cohen syndrome [RCV002005928] Chr8:99038421 [GRCh38]
Chr8:100050649 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11679G>C (p.Gln3893His) single nucleotide variant Cohen syndrome [RCV001986117] Chr8:99871631 [GRCh38]
Chr8:100883859 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7549G>A (p.Val2517Ile) single nucleotide variant Cohen syndrome [RCV001907891] Chr8:99778801 [GRCh38]
Chr8:100791029 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5551A>T (p.Asn1851Tyr) single nucleotide variant Cohen syndrome [RCV001964558] Chr8:99642141 [GRCh38]
Chr8:100654369 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11993_*2dup (p.Ter3998=) duplication Cohen syndrome [RCV001889664] Chr8:99875663..99875664 [GRCh38]
Chr8:100887891..100887892 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1823C>T (p.Pro608Leu) single nucleotide variant Cohen syndrome [RCV002020942] Chr8:99143145 [GRCh38]
Chr8:100155373 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9433A>G (p.Ile3145Val) single nucleotide variant Cohen syndrome [RCV002041383]|VPS13B-related disorder [RCV004728849] Chr8:99832471 [GRCh38]
Chr8:100844699 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5781G>T (p.Glu1927Asp) single nucleotide variant Cohen syndrome [RCV001888952] Chr8:99642371 [GRCh38]
Chr8:100654599 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11759G>C (p.Arg3920Pro) single nucleotide variant Cohen syndrome [RCV001870670] Chr8:99875431 [GRCh38]
Chr8:100887659 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3310T>A (p.Tyr1104Asn) single nucleotide variant Cohen syndrome [RCV001964559] Chr8:99442500 [GRCh38]
Chr8:100454728 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7508G>A (p.Arg2503Lys) single nucleotide variant Cohen syndrome [RCV001945666] Chr8:99778760 [GRCh38]
Chr8:100790988 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs) duplication Cohen syndrome [RCV001946233] Chr8:99848826..99848827 [GRCh38]
Chr8:100861054..100861055 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter) single nucleotide variant Cohen syndrome [RCV001946994] Chr8:99809379 [GRCh38]
Chr8:100821607 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1651G>T (p.Gly551Cys) single nucleotide variant Cohen syndrome [RCV001968042] Chr8:99136752 [GRCh38]
Chr8:100148980 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3805A>G (p.Ile1269Val) single nucleotide variant Cohen syndrome [RCV001967308] Chr8:99481737 [GRCh38]
Chr8:100493965 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6544C>A (p.Pro2182Thr) single nucleotide variant Cohen syndrome [RCV001983956] Chr8:99717260 [GRCh38]
Chr8:100729488 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.763-7A>G single nucleotide variant Cohen syndrome [RCV002004624] Chr8:99115693 [GRCh38]
Chr8:100127921 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11881C>G (p.Pro3961Ala) single nucleotide variant Cohen syndrome [RCV002021699] Chr8:99875553 [GRCh38]
Chr8:100887781 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs) duplication Cohen syndrome [RCV001909071] Chr8:99875472..99875473 [GRCh38]
Chr8:100887700..100887701 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del deletion Cohen syndrome [RCV001844702] Chr8:100160068..100168972 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.329G>A (p.Arg110His) single nucleotide variant Cohen syndrome [RCV001911904]|VPS13B-related disorder [RCV003434338] Chr8:99096349 [GRCh38]
Chr8:100108577 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu) single nucleotide variant Cohen syndrome [RCV002545251]|VPS13B-related disorder [RCV004743589]|not specified [RCV001844703] Chr8:99135088 [GRCh38]
Chr8:100147316 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1869A>G (p.Ile623Met) single nucleotide variant Cohen syndrome [RCV002006124] Chr8:99147866 [GRCh38]
Chr8:100160094 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11062A>T (p.Thr3688Ser) single nucleotide variant Cohen syndrome [RCV001985547] Chr8:99861793 [GRCh38]
Chr8:100874021 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4051A>T (p.Met1351Leu) single nucleotide variant Cohen syndrome [RCV001968120] Chr8:99502844 [GRCh38]
Chr8:100515072 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99834003-100199851) copy number gain not specified [RCV002053787] Chr8:99834003..100199851 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6881C>T (p.Pro2294Leu) single nucleotide variant Cohen syndrome [RCV001967639] Chr8:99720878 [GRCh38]
Chr8:100733106 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4231C>T (p.Arg1411Cys) single nucleotide variant Cohen syndrome [RCV001870994]|VPS13B-related disorder [RCV004743614]|not provided [RCV004693833] Chr8:99507843 [GRCh38]
Chr8:100520071 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11674G>A (p.Ala3892Thr) single nucleotide variant Cohen syndrome [RCV001968126] Chr8:99871626 [GRCh38]
Chr8:100883854 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3305G>A (p.Ser1102Asn) single nucleotide variant Cohen syndrome [RCV001871388] Chr8:99442495 [GRCh38]
Chr8:100454723 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7606A>G (p.Asn2536Asp) single nucleotide variant Cohen syndrome [RCV002039773] Chr8:99778858 [GRCh38]
Chr8:100791086 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4357T>C (p.Ser1453Pro) single nucleotide variant Cohen syndrome [RCV001967666]|VPS13B-related disorder [RCV004744162] Chr8:99511236 [GRCh38]
Chr8:100523464 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8750C>G (p.Ser2917Trp) single nucleotide variant Cohen syndrome [RCV002039888] Chr8:99819540 [GRCh38]
Chr8:100831768 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1762del (p.Ser588fs) deletion Cohen syndrome [RCV001964612] Chr8:99143084 [GRCh38]
Chr8:100155312 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9268A>G (p.Thr3090Ala) single nucleotide variant Cohen syndrome [RCV001823841] Chr8:99823916 [GRCh38]
Chr8:100836144 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9697C>G (p.His3233Asp) single nucleotide variant Cohen syndrome [RCV001912484] Chr8:99835279 [GRCh38]
Chr8:100847507 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3020A>G (p.Lys1007Arg) single nucleotide variant Cohen syndrome [RCV001949049] Chr8:99391642 [GRCh38]
Chr8:100403870 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100108530)_(100182401_?)del deletion Cohen syndrome [RCV001982952] Chr8:100108530..100182401 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu) single nucleotide variant Cohen syndrome [RCV002003511]|Inborn genetic diseases [RCV002324447] Chr8:99442439 [GRCh38]
Chr8:100454667 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2605G>A (p.Ala869Thr) single nucleotide variant Cohen syndrome [RCV001871031] Chr8:99274287 [GRCh38]
Chr8:100286515 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser) single nucleotide variant Cohen syndrome [RCV001948383]|VPS13B-related disorder [RCV003407971] Chr8:99809473 [GRCh38]
Chr8:100821701 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5650T>G (p.Ser1884Ala) single nucleotide variant Cohen syndrome [RCV002007830]|VPS13B-related disorder [RCV004744193] Chr8:99642240 [GRCh38]
Chr8:100654468 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7616T>G (p.Met2539Arg) single nucleotide variant Cohen syndrome [RCV001895290] Chr8:99778868 [GRCh38]
Chr8:100791096 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100026017)_(100133693_?)dup duplication Cohen syndrome [RCV001946194] Chr8:100026017..100133693 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser) single nucleotide variant Cohen syndrome [RCV002040108]|VPS13B-related disorder [RCV003892893] Chr8:99853630 [GRCh38]
Chr8:100865858 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5737G>T (p.Val1913Phe) single nucleotide variant Cohen syndrome [RCV001984671] Chr8:99642327 [GRCh38]
Chr8:100654555 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu) single nucleotide variant Cohen syndrome [RCV001927802]|VPS13B-related disorder [RCV003923357] Chr8:99766910 [GRCh38]
Chr8:100779138 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10555T>G (p.Leu3519Val) single nucleotide variant Cohen syndrome [RCV001928193] Chr8:99853944 [GRCh38]
Chr8:100866172 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5653G>T (p.Gly1885Trp) single nucleotide variant Cohen syndrome [RCV001895593] Chr8:99642243 [GRCh38]
Chr8:100654471 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn) single nucleotide variant Cohen syndrome [RCV002034735]|not provided [RCV004693770]|not specified [RCV001844704] Chr8:99778714 [GRCh38]
Chr8:100790942 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.413-2A>G single nucleotide variant Cohen syndrome [RCV002007578] Chr8:99102951 [GRCh38]
Chr8:100115179 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter) single nucleotide variant Cohen syndrome [RCV002007579] Chr8:99111181 [GRCh38]
Chr8:100123409 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe) single nucleotide variant Cohen syndrome [RCV001968135]|VPS13B-related disorder [RCV004744164] Chr8:99766859 [GRCh38]
Chr8:100779087 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11285C>T (p.Ala3762Val) single nucleotide variant Cohen syndrome [RCV001946087] Chr8:99868358 [GRCh38]
Chr8:100880586 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) single nucleotide variant Cohen syndrome [RCV002007583] Chr8:99853537 [GRCh38]
Chr8:100865765 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1732del (p.Val578fs) deletion Cohen syndrome [RCV001914306] Chr8:99143054 [GRCh38]
Chr8:100155282 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4058G>A (p.Ser1353Asn) single nucleotide variant Cohen syndrome [RCV002008188]|VPS13B-related disorder [RCV004744197] Chr8:99502851 [GRCh38]
Chr8:100515079 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11317G>A (p.Val3773Met) single nucleotide variant Cohen syndrome [RCV002040649] Chr8:99868390 [GRCh38]
Chr8:100880618 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.623G>A (p.Cys208Tyr) single nucleotide variant Cohen syndrome [RCV001913736] Chr8:99111140 [GRCh38]
Chr8:100123368 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter) single nucleotide variant Cohen syndrome [RCV001908031] Chr8:99121380 [GRCh38]
Chr8:100133608 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu) single nucleotide variant Cohen syndrome [RCV001927925] Chr8:99556592 [GRCh38]
Chr8:100568820 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9400A>G (p.Ser3134Gly) single nucleotide variant Cohen syndrome [RCV001987335]|VPS13B-related disorder [RCV004743671] Chr8:99832438 [GRCh38]
Chr8:100844666 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6866-14C>G single nucleotide variant Cohen syndrome [RCV001970258] Chr8:99720849 [GRCh38]
Chr8:100733077 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His) single nucleotide variant Cohen syndrome [RCV001911621]|Inborn genetic diseases [RCV002343989] Chr8:99875606 [GRCh38]
Chr8:100887834 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9142G>A (p.Asp3048Asn) single nucleotide variant Cohen syndrome [RCV001948590] Chr8:99821441 [GRCh38]
Chr8:100833669 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9572C>G (p.Ala3191Gly) single nucleotide variant Cohen syndrome [RCV001895402] Chr8:99832610 [GRCh38]
Chr8:100844838 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11755G>A (p.Val3919Ile) single nucleotide variant Cohen syndrome [RCV002007954] Chr8:99875427 [GRCh38]
Chr8:100887655 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7688T>G (p.Leu2563Arg) single nucleotide variant Cohen syndrome [RCV001987367]|Inborn genetic diseases [RCV004970588] Chr8:99778940 [GRCh38]
Chr8:100791168 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5773C>A (p.Gln1925Lys) single nucleotide variant Cohen syndrome [RCV002002209] Chr8:99642363 [GRCh38]
Chr8:100654591 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7022G>A (p.Ser2341Asn) single nucleotide variant Cohen syndrome [RCV001890083] Chr8:99721019 [GRCh38]
Chr8:100733247 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7025C>T (p.Thr2342Ile) single nucleotide variant Cohen syndrome [RCV002023361] Chr8:99721022 [GRCh38]
Chr8:100733250 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.937+6G>A single nucleotide variant Cohen syndrome [RCV001913000] Chr8:99115880 [GRCh38]
Chr8:100128108 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7692C>G (p.Asp2564Glu) single nucleotide variant Cohen syndrome [RCV001965092] Chr8:99778944 [GRCh38]
Chr8:100791172 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1303-3T>C single nucleotide variant Cohen syndrome [RCV002022576] Chr8:99135012 [GRCh38]
Chr8:100147240 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) insertion Cohen syndrome [RCV001908765] Chr8:99577566..99577567 [GRCh38]
Chr8:100589794..100589795 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7330T>A (p.Ser2444Thr) single nucleotide variant Cohen syndrome [RCV002004513] Chr8:99776857 [GRCh38]
Chr8:100789085 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser) single nucleotide variant Cohen syndrome [RCV002052153] Chr8:99136752 [GRCh38]
Chr8:100148980 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs) deletion Cohen syndrome [RCV001965272] Chr8:99779029 [GRCh38]
Chr8:100791257 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100568668)_(100673729_?)del deletion Cohen syndrome [RCV001946920] Chr8:100568668..100673729 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10510G>C (p.Ala3504Pro) single nucleotide variant Cohen syndrome [RCV001892156] Chr8:99853899 [GRCh38]
Chr8:100866127 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742G>A (p.Asp3248Asn) single nucleotide variant Cohen syndrome [RCV002021230] Chr8:99835324 [GRCh38]
Chr8:100847552 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6447del (p.Val2150fs) deletion Cohen syndrome [RCV001967887] Chr8:99699921 [GRCh38]
Chr8:100712149 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3307T>A (p.Trp1103Arg) single nucleotide variant Cohen syndrome [RCV001913862] Chr8:99442497 [GRCh38]
Chr8:100454725 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) single nucleotide variant Cohen syndrome [RCV001926373] Chr8:99391644 [GRCh38]
Chr8:100403872 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9655T>C (p.Tyr3219His) single nucleotide variant Cohen syndrome [RCV001948297] Chr8:99835237 [GRCh38]
Chr8:100847465 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7430-13_7430-10del microsatellite Cohen syndrome [RCV001949375]|VPS13B-related disorder [RCV004744179] Chr8:99778663..99778666 [GRCh38]
Chr8:100790891..100790894 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6398C>A (p.Ala2133Glu) single nucleotide variant Cohen syndrome [RCV001890751] Chr8:99699876 [GRCh38]
Chr8:100712104 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8548C>T (p.Pro2850Ser) single nucleotide variant Cohen syndrome [RCV001890868] Chr8:99818815 [GRCh38]
Chr8:100831043 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100032327-100217652)x1 copy number loss not provided [RCV001834400] Chr8:100032327..100217652 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11542G>A (p.Asp3848Asn) single nucleotide variant Cohen syndrome [RCV001948313] Chr8:99871494 [GRCh38]
Chr8:100883722 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.610A>C (p.Asn204His) single nucleotide variant Cohen syndrome [RCV001926653] Chr8:99111127 [GRCh38]
Chr8:100123355 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9706T>C (p.Cys3236Arg) single nucleotide variant Cohen syndrome [RCV001910890] Chr8:99835288 [GRCh38]
Chr8:100847516 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5156A>G (p.Gln1719Arg) single nucleotide variant Cohen syndrome [RCV002022546] Chr8:99577569 [GRCh38]
Chr8:100589797 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6039T>A (p.Asn2013Lys) single nucleotide variant Cohen syndrome [RCV001892322] Chr8:99661484 [GRCh38]
Chr8:100673712 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7706T>C (p.Val2569Ala) single nucleotide variant Cohen syndrome [RCV001967751] Chr8:99778958 [GRCh38]
Chr8:100791186 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3277T>G (p.Ser1093Ala) single nucleotide variant Cohen syndrome [RCV001986839] Chr8:99442467 [GRCh38]
Chr8:100454695 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2536del (p.Leu846fs) deletion Cohen syndrome [RCV001967799] Chr8:99274215 [GRCh38]
Chr8:100286443 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly) single nucleotide variant Cohen syndrome [RCV001926979]|VPS13B-related disorder [RCV003958424]|not provided [RCV003426256] Chr8:99143070 [GRCh38]
Chr8:100155298 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_100205094)_(100221906_?)del deletion Cohen syndrome [RCV001983002] Chr8:100205094..100221906 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11021C>T (p.Ser3674Leu) single nucleotide variant Cohen syndrome [RCV001912873]|VPS13B-related disorder [RCV004743636] Chr8:99859457 [GRCh38]
Chr8:100871685 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) single nucleotide variant Cohen syndrome [RCV002052219] Chr8:99819416 [GRCh38]
Chr8:100831644 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu) single nucleotide variant Cohen syndrome [RCV002005051]|Inborn genetic diseases [RCV004970681] Chr8:99275227 [GRCh38]
Chr8:100287455 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer) duplication Cohen syndrome [RCV001946579] Chr8:99818768..99818769 [GRCh38]
Chr8:100830996..100830997 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6719A>T (p.Tyr2240Phe) single nucleotide variant Cohen syndrome [RCV002003677] Chr8:99720406 [GRCh38]
Chr8:100732634 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu) single nucleotide variant Cohen syndrome [RCV001985332]|VPS13B-related disorder [RCV003407994]|not provided [RCV004793643] Chr8:99121425 [GRCh38]
Chr8:100133653 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs) duplication Cohen syndrome [RCV001926562] Chr8:99507844..99507845 [GRCh38]
Chr8:100520072..100520073 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3755C>T (p.Ser1252Phe) single nucleotide variant Cohen syndrome [RCV002022816] Chr8:99481687 [GRCh38]
Chr8:100493915 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1207-10T>A single nucleotide variant Cohen syndrome [RCV001966985] Chr8:99134622 [GRCh38]
Chr8:100146850 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.580+1G>A single nucleotide variant Cohen syndrome [RCV002021487] Chr8:99103121 [GRCh38]
Chr8:100115349 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7427C>A (p.Thr2476Lys) single nucleotide variant Cohen syndrome [RCV001969309] Chr8:99776954 [GRCh38]
Chr8:100789182 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8706C>T (p.Gly2902=) single nucleotide variant Cohen syndrome [RCV002023756] Chr8:99819496 [GRCh38]
Chr8:100831724 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2077A>C (p.Ile693Leu) single nucleotide variant Cohen syndrome [RCV001967921] Chr8:99156612 [GRCh38]
Chr8:100168840 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1166C>A (p.Ser389Tyr) single nucleotide variant Cohen syndrome [RCV002005753] Chr8:99121405 [GRCh38]
Chr8:100133633 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2208+14A>G single nucleotide variant Cohen syndrome [RCV001945403] Chr8:99156757 [GRCh38]
Chr8:100168985 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.10975C>T (p.Arg3659Trp) single nucleotide variant Cohen syndrome [RCV001891650] Chr8:99859411 [GRCh38]
Chr8:100871639 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1469G>C (p.Gly490Ala) single nucleotide variant Cohen syndrome [RCV002041794] Chr8:99135639 [GRCh38]
Chr8:100147867 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1664A>C (p.Gln555Pro) single nucleotide variant Cohen syndrome [RCV002003320] Chr8:99142986 [GRCh38]
Chr8:100155214 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8480A>G (p.His2827Arg) single nucleotide variant Cohen syndrome [RCV001910415] Chr8:99818747 [GRCh38]
Chr8:100830975 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1424C>T (p.Thr475Ile) single nucleotide variant Cohen syndrome [RCV001871027] Chr8:99135136 [GRCh38]
Chr8:100147364 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.825T>G (p.Ile275Met) single nucleotide variant Cohen syndrome [RCV001890359]|Inborn genetic diseases [RCV002552843] Chr8:99115762 [GRCh38]
Chr8:100127990 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) single nucleotide variant Cohen syndrome [RCV001823839]|Inborn genetic diseases [RCV003247037]|VPS13B-related disorder [RCV004743587] Chr8:99481674 [GRCh38]
Chr8:100493902 [GRCh37]
Chr8:8q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_152564.5(VPS13B):c.7942-6dup duplication Cohen syndrome [RCV001823851] Chr8:99809368..99809369 [GRCh38]
Chr8:100821596..100821597 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100251329-100422704)x1 copy number loss not provided [RCV001834491] Chr8:100251329..100422704 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4042+90TCTG[4] microsatellite not provided [RCV001837712] Chr8:99501948..99501955 [GRCh38]
Chr8:100514176..100514183 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.7050+5G>A single nucleotide variant Cohen syndrome [RCV001982740] Chr8:99721052 [GRCh38]
Chr8:100733280 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_99135566)_(106815766_?)dup duplication Cohen syndrome [RCV001997398] Chr8:99135566..106815766 [GRCh37]
Chr8:8q22.2-23.1		 uncertain significance
NM_152564.5(VPS13B):c.1814A>C (p.Glu605Ala) single nucleotide variant Cohen syndrome [RCV002019761] Chr8:99143136 [GRCh38]
Chr8:100155364 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8633A>G (p.Asp2878Gly) single nucleotide variant Cohen syndrome [RCV001926116] Chr8:99819423 [GRCh38]
Chr8:100831651 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4158-2A>G single nucleotide variant Cohen syndrome [RCV002030666] Chr8:99507768 [GRCh38]
Chr8:100519996 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6544C>T (p.Pro2182Ser) single nucleotide variant Cohen syndrome [RCV001934950] Chr8:99717260 [GRCh38]
Chr8:100729488 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1321C>T (p.Pro441Ser) single nucleotide variant Cohen syndrome [RCV002017434] Chr8:99135033 [GRCh38]
Chr8:100147261 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100123306)_(100133735_?)dup duplication Cohen syndrome [RCV002034116] Chr8:100123306..100133735 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3570A>G (p.Gln1190=) single nucleotide variant Cohen syndrome [RCV001925428] Chr8:99467538 [GRCh38]
Chr8:100479766 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln) single nucleotide variant Cohen syndrome [RCV002037017]|Inborn genetic diseases [RCV002346334]|VPS13B-related disorder [RCV004744221] Chr8:99575666 [GRCh38]
Chr8:100587894 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2584A>G (p.Ser862Gly) single nucleotide variant Cohen syndrome [RCV001886632] Chr8:99274266 [GRCh38]
Chr8:100286494 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100026017)_(100026183_?)del deletion Cohen syndrome [RCV001963284] Chr8:100026017..100026183 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5624T>C (p.Leu1875Pro) single nucleotide variant Cohen syndrome [RCV001942656] Chr8:99642214 [GRCh38]
Chr8:100654442 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4225-1G>A single nucleotide variant Cohen syndrome [RCV002038491] Chr8:99511103 [GRCh38]
Chr8:100523331 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8060T>C (p.Ile2687Thr) single nucleotide variant Cohen syndrome [RCV001888450] Chr8:99809493 [GRCh38]
Chr8:100821721 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2893_2895del (p.Ile965del) deletion Cohen syndrome [RCV002038918]|VPS13B-related disorder [RCV004744219] Chr8:99384274..99384276 [GRCh38]
Chr8:100396502..100396504 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7625T>C (p.Val2542Ala) single nucleotide variant Cohen syndrome [RCV002034944] Chr8:99778877 [GRCh38]
Chr8:100791105 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter) single nucleotide variant Cohen syndrome [RCV001922167] Chr8:99818827 [GRCh38]
Chr8:100831055 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2934+1G>T single nucleotide variant Cohen syndrome [RCV001998707] Chr8:99384318 [GRCh38]
Chr8:100396546 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9827A>T (p.Tyr3276Phe) single nucleotide variant Cohen syndrome [RCV001943180] Chr8:99835623 [GRCh38]
Chr8:100847851 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs) duplication Cohen syndrome [RCV001905347] Chr8:99817582..99817583 [GRCh38]
Chr8:100829810..100829811 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11600C>T (p.Ser3867Leu) single nucleotide variant Cohen syndrome [RCV001886757] Chr8:99871552 [GRCh38]
Chr8:100883780 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3691G>T (p.Asp1231Tyr) single nucleotide variant Cohen syndrome [RCV001886537] Chr8:99481623 [GRCh38]
Chr8:100493851 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2149A>G (p.Ser717Gly) single nucleotide variant Cohen syndrome [RCV002019471] Chr8:99156684 [GRCh38]
Chr8:100168912 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter) single nucleotide variant Cohen syndrome [RCV002037766] Chr8:99778810 [GRCh38]
Chr8:100791038 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs) deletion Cohen syndrome [RCV001918125] Chr8:99875480 [GRCh38]
Chr8:100887708 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs) insertion Cohen syndrome [RCV001922533] Chr8:99835686..99835687 [GRCh38]
Chr8:100847914..100847915 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10132A>T (p.Thr3378Ser) single nucleotide variant Cohen syndrome [RCV002020331] Chr8:99853521 [GRCh38]
Chr8:100865749 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4812A>G (p.Ile1604Met) single nucleotide variant Cohen syndrome [RCV001887242] Chr8:99556516 [GRCh38]
Chr8:100568744 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg) single nucleotide variant Cohen syndrome [RCV001887731] Chr8:99776872 [GRCh38]
Chr8:100789100 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1520A>G (p.Asn507Ser) single nucleotide variant Cohen syndrome [RCV002037087] Chr8:99135690 [GRCh38]
Chr8:100147918 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7454T>C (p.Phe2485Ser) single nucleotide variant Cohen syndrome [RCV001944339] Chr8:99778706 [GRCh38]
Chr8:100790934 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5372A>T (p.Gln1791Leu) single nucleotide variant Cohen syndrome [RCV002010800] Chr8:99641962 [GRCh38]
Chr8:100654190 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11258A>G (p.Gln3753Arg) single nucleotide variant Cohen syndrome [RCV002028585] Chr8:99868331 [GRCh38]
Chr8:100880559 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11334G>C (p.Met3778Ile) single nucleotide variant Cohen syndrome [RCV001880814] Chr8:99868407 [GRCh38]
Chr8:100880635 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5662A>G (p.Ile1888Val) single nucleotide variant Cohen syndrome [RCV001907328] Chr8:99642252 [GRCh38]
Chr8:100654480 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4285A>T (p.Thr1429Ser) single nucleotide variant Cohen syndrome [RCV001883215]|VPS13B-related disorder [RCV003401814] Chr8:99511164 [GRCh38]
Chr8:100523392 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn) single nucleotide variant Cohen syndrome [RCV001982555]|Inborn genetic diseases [RCV002562899]|VPS13B-related disorder [RCV004744169] Chr8:99717243 [GRCh38]
Chr8:100729471 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5690A>G (p.His1897Arg) single nucleotide variant Cohen syndrome [RCV001934185] Chr8:99642280 [GRCh38]
Chr8:100654508 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs) deletion Cohen syndrome [RCV001925111] Chr8:99871575..99871578 [GRCh38]
Chr8:100883803..100883806 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10650C>G (p.His3550Gln) single nucleotide variant Cohen syndrome [RCV001886677] Chr8:99854039 [GRCh38]
Chr8:100866267 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2464A>C (p.Ser822Arg) single nucleotide variant Cohen syndrome [RCV002013586] Chr8:99193006 [GRCh38]
Chr8:100205234 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8605C>G (p.Leu2869Val) single nucleotide variant Cohen syndrome [RCV001922928] Chr8:99818872 [GRCh38]
Chr8:100831100 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile) single nucleotide variant Cohen syndrome [RCV002035025]|not provided [RCV002292672] Chr8:99784382 [GRCh38]
Chr8:100796610 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs) deletion Cohen syndrome [RCV001917146] Chr8:99778986..99778998 [GRCh38]
Chr8:100791214..100791226 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4746-1G>C single nucleotide variant Cohen syndrome [RCV001961556] Chr8:99556449 [GRCh38]
Chr8:100568677 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10455T>G (p.Asn3485Lys) single nucleotide variant Cohen syndrome [RCV001886394] Chr8:99853844 [GRCh38]
Chr8:100866072 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9743-2A>C single nucleotide variant Cohen syndrome [RCV002039169] Chr8:99835537 [GRCh38]
Chr8:100847765 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2788C>A (p.Gln930Lys) single nucleotide variant Cohen syndrome [RCV002017356] Chr8:99275218 [GRCh38]
Chr8:100287446 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100123306)_(100182411_?)del deletion Cohen syndrome [RCV001960576] Chr8:100123306..100182411 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3551C>G (p.Thr1184Ser) single nucleotide variant Cohen syndrome [RCV001915917] Chr8:99467519 [GRCh38]
Chr8:100479747 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) single nucleotide variant Cohen syndrome [RCV001952448]|Inborn genetic diseases [RCV004041952]|VPS13B-related disorder [RCV004743665]|not provided [RCV005054389] Chr8:99853903 [GRCh38]
Chr8:100866131 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4895C>T (p.Thr1632Ile) single nucleotide variant Cohen syndrome [RCV002015179] Chr8:99556599 [GRCh38]
Chr8:100568827 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3826A>G (p.Thr1276Ala) single nucleotide variant Cohen syndrome [RCV001982487] Chr8:99481758 [GRCh38]
Chr8:100493986 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs) deletion Cohen syndrome [RCV001942084] Chr8:99870830..99870842 [GRCh38]
Chr8:100883058..100883070 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11711A>G (p.Gln3904Arg) single nucleotide variant Cohen syndrome [RCV002001012] Chr8:99871663 [GRCh38]
Chr8:100883891 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs) deletion Cohen syndrome [RCV001888298] Chr8:99170150..99170151 [GRCh38]
Chr8:100182378..100182379 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3360_3361insC (p.Ile1121fs) insertion Cohen syndrome [RCV002000007] Chr8:99442550..99442551 [GRCh38]
Chr8:100454778..100454779 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10868-18C>T single nucleotide variant Cohen syndrome [RCV002000052] Chr8:99859286 [GRCh38]
Chr8:100871514 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.817_818del (p.Met273fs) deletion Cohen syndrome [RCV001951162] Chr8:99115753..99115754 [GRCh38]
Chr8:100127981..100127982 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7424G>A (p.Gly2475Asp) single nucleotide variant Cohen syndrome [RCV001902785] Chr8:99776951 [GRCh38]
Chr8:100789179 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11572G>A (p.Glu3858Lys) single nucleotide variant Cohen syndrome [RCV002038361] Chr8:99871524 [GRCh38]
Chr8:100883752 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2381del (p.Pro794fs) deletion Cohen syndrome [RCV001888319] Chr8:99192922 [GRCh38]
Chr8:100205150 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2738G>C (p.Ser913Thr) single nucleotide variant Cohen syndrome [RCV001943519] Chr8:99275168 [GRCh38]
Chr8:100287396 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100568668)_(100654736_?)del deletion Cohen syndrome [RCV001951221] Chr8:100568668..100654736 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100146850)_(100221906_?)del deletion Cohen syndrome [RCV001951225] Chr8:100146850..100221906 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.186T>G (p.Ile62Met) single nucleotide variant Cohen syndrome [RCV001996539] Chr8:99038461 [GRCh38]
Chr8:100050689 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1206+6T>A single nucleotide variant Cohen syndrome [RCV002038388] Chr8:99121451 [GRCh38]
Chr8:100133679 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3751A>C (p.Thr1251Pro) single nucleotide variant Cohen syndrome [RCV001888880] Chr8:99481683 [GRCh38]
Chr8:100493911 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5904T>C (p.Cys1968=) single nucleotide variant Cohen syndrome [RCV001960917]|VPS13B-related disorder [RCV003941228] Chr8:99642494 [GRCh38]
Chr8:100654722 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3210G>C (p.Gln1070His) single nucleotide variant Cohen syndrome [RCV001934701] Chr8:99431664 [GRCh38]
Chr8:100443892 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8200C>T (p.Arg2734Trp) single nucleotide variant Cohen syndrome [RCV001923440]|VPS13B-related disorder [RCV003426250] Chr8:99817642 [GRCh38]
Chr8:100829870 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100026017)_(100887894_?)del deletion Cohen syndrome [RCV001941683] Chr8:100026017..100887894 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs) deletion Cohen syndrome [RCV002037973] Chr8:99861778 [GRCh38]
Chr8:100874006 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.174A>T (p.Leu58Phe) single nucleotide variant Cohen syndrome [RCV001887574] Chr8:99038449 [GRCh38]
Chr8:100050677 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter) single nucleotide variant Cohen syndrome [RCV001943717] Chr8:99274265 [GRCh38]
Chr8:100286493 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter) single nucleotide variant Cohen syndrome [RCV001897608] Chr8:99699555 [GRCh38]
Chr8:100711783 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6507A>C (p.Lys2169Asn) single nucleotide variant Cohen syndrome [RCV001906567] Chr8:99717223 [GRCh38]
Chr8:100729451 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter) single nucleotide variant Cohen syndrome [RCV001960524] Chr8:99832563 [GRCh38]
Chr8:100844791 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3214G>A (p.Glu1072Lys) single nucleotide variant Cohen syndrome [RCV002037536] Chr8:99442404 [GRCh38]
Chr8:100454632 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100286416)_(100568891_?)del deletion Cohen syndrome [RCV001963248] Chr8:100286416..100568891 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) single nucleotide variant Cohen syndrome [RCV001943054]|VPS13B-related disorder [RCV004743646]|not provided [RCV002261419] Chr8:99809412 [GRCh38]
Chr8:100821640 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10961A>T (p.Tyr3654Phe) single nucleotide variant Cohen syndrome [RCV001943772] Chr8:99859397 [GRCh38]
Chr8:100871625 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs) deletion Cohen syndrome [RCV001951506] Chr8:99642426..99642430 [GRCh38]
Chr8:100654654..100654658 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10064C>T (p.Ala3355Val) single nucleotide variant Cohen syndrome [RCV001903013] Chr8:99853453 [GRCh38]
Chr8:100865681 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4615A>G (p.Met1539Val) single nucleotide variant Cohen syndrome [RCV001901851] Chr8:99511494 [GRCh38]
Chr8:100523722 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6524G>T (p.Arg2175Ile) single nucleotide variant Cohen syndrome [RCV001994960] Chr8:99717240 [GRCh38]
Chr8:100729468 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6371C>G (p.Pro2124Arg) single nucleotide variant Cohen syndrome [RCV002026886] Chr8:99699849 [GRCh38]
Chr8:100712077 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.762+4G>A single nucleotide variant Cohen syndrome [RCV001867189] Chr8:99111283 [GRCh38]
Chr8:100123511 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1943G>A (p.Cys648Tyr) single nucleotide variant Cohen syndrome [RCV002029395] Chr8:99147940 [GRCh38]
Chr8:100160168 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.380A>G (p.Gln127Arg) single nucleotide variant Cohen syndrome [RCV001957001] Chr8:99096400 [GRCh38]
Chr8:100108628 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4053G>C (p.Met1351Ile) single nucleotide variant Cohen syndrome [RCV001995599] Chr8:99502846 [GRCh38]
Chr8:100515074 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11781G>C (p.Gln3927His) single nucleotide variant Cohen syndrome [RCV002046861] Chr8:99875453 [GRCh38]
Chr8:100887681 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7370C>G (p.Ser2457Cys) single nucleotide variant Cohen syndrome [RCV001934928] Chr8:99776897 [GRCh38]
Chr8:100789125 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1651+5del deletion Cohen syndrome [RCV001955579]|VPS13B-related disorder [RCV003892995] Chr8:99136756 [GRCh38]
Chr8:100148984 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1528C>A (p.Arg510Ser) single nucleotide variant Cohen syndrome [RCV002050719] Chr8:99135698 [GRCh38]
Chr8:100147926 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn) single nucleotide variant Cohen syndrome [RCV002048186] Chr8:99642110 [GRCh38]
Chr8:100654338 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100108530)_(100168981_?)del deletion Cohen syndrome [RCV001923087] Chr8:100108530..100168981 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs) deletion Cohen syndrome [RCV001881093] Chr8:99642360 [GRCh38]
Chr8:100654588 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly) single nucleotide variant Cohen syndrome [RCV002048303]|VPS13B-related disorder [RCV004744213] Chr8:99102964 [GRCh38]
Chr8:100115192 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3326G>A (p.Ser1109Asn) single nucleotide variant Cohen syndrome [RCV001937112] Chr8:99442516 [GRCh38]
Chr8:100454744 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1221A>T (p.Gln407His) single nucleotide variant Cohen syndrome [RCV001879046] Chr8:99134646 [GRCh38]
Chr8:100146874 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8330C>T (p.Ser2777Phe) single nucleotide variant Cohen syndrome [RCV001875100] Chr8:99817772 [GRCh38]
Chr8:100830000 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5731A>G (p.Thr1911Ala) single nucleotide variant Cohen syndrome [RCV001971833] Chr8:99642321 [GRCh38]
Chr8:100654549 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3584C>T (p.Thr1195Met) single nucleotide variant Cohen syndrome [RCV001899564]|VPS13B-related disorder [RCV004743615] Chr8:99467552 [GRCh38]
Chr8:100479780 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7012C>T (p.Pro2338Ser) single nucleotide variant Cohen syndrome [RCV002026045] Chr8:99721009 [GRCh38]
Chr8:100733237 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3391A>G (p.Met1131Val) single nucleotide variant Cohen syndrome [RCV001990161] Chr8:99442581 [GRCh38]
Chr8:100454809 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2438A>G (p.Gln813Arg) single nucleotide variant Cohen syndrome [RCV001920865]|VPS13B-related disorder [RCV003407942] Chr8:99192980 [GRCh38]
Chr8:100205208 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1639A>T (p.Thr547Ser) single nucleotide variant Cohen syndrome [RCV001934143] Chr8:99136740 [GRCh38]
Chr8:100148968 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7426A>G (p.Thr2476Ala) single nucleotide variant Cohen syndrome [RCV001952308] Chr8:99776953 [GRCh38]
Chr8:100789181 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3587G>T (p.Gly1196Val) single nucleotide variant Cohen syndrome [RCV002051124] Chr8:99467555 [GRCh38]
Chr8:100479783 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11242C>A (p.Pro3748Thr) single nucleotide variant Cohen syndrome [RCV002015830] Chr8:99868315 [GRCh38]
Chr8:100880543 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4084A>G (p.Ile1362Val) single nucleotide variant Cohen syndrome [RCV001930347] Chr8:99502877 [GRCh38]
Chr8:100515105 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8994+6A>G single nucleotide variant Cohen syndrome [RCV001875261] Chr8:99820128 [GRCh38]
Chr8:100832356 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2531A>G (p.Asn844Ser) single nucleotide variant Cohen syndrome [RCV001898436] Chr8:99274213 [GRCh38]
Chr8:100286441 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7099G>T (p.Ala2367Ser) single nucleotide variant Cohen syndrome [RCV001878153] Chr8:99766822 [GRCh38]
Chr8:100779050 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5924T>G (p.Leu1975Arg) single nucleotide variant Cohen syndrome [RCV001957295] Chr8:99661369 [GRCh38]
Chr8:100673597 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6050A>G (p.Asp2017Gly) single nucleotide variant Cohen syndrome [RCV001957908] Chr8:99699528 [GRCh38]
Chr8:100711756 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2626A>G (p.Ile876Val) single nucleotide variant Cohen syndrome [RCV001901066] Chr8:99274308 [GRCh38]
Chr8:100286536 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1906A>G (p.Ile636Val) single nucleotide variant Cohen syndrome [RCV001930427] Chr8:99147903 [GRCh38]
Chr8:100160131 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2348A>G (p.Gln783Arg) single nucleotide variant Cohen syndrome [RCV002050228] Chr8:99192890 [GRCh38]
Chr8:100205118 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7040A>T (p.Asp2347Val) single nucleotide variant Cohen syndrome [RCV002015306] Chr8:99721037 [GRCh38]
Chr8:100733265 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2879T>C (p.Leu960Ser) single nucleotide variant Cohen syndrome [RCV001989257] Chr8:99384262 [GRCh38]
Chr8:100396490 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6229C>T (p.Arg2077Cys) single nucleotide variant Cohen syndrome [RCV001955028] Chr8:99699707 [GRCh38]
Chr8:100711935 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4756A>C (p.Asn1586His) single nucleotide variant Cohen syndrome [RCV001917236] Chr8:99556460 [GRCh38]
Chr8:100568688 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6082G>A (p.Ala2028Thr) single nucleotide variant Cohen syndrome [RCV001990491] Chr8:99699560 [GRCh38]
Chr8:100711788 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5483G>A (p.Cys1828Tyr) single nucleotide variant Cohen syndrome [RCV001931883] Chr8:99642073 [GRCh38]
Chr8:100654301 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100108530)_(100205295_?)del deletion Cohen syndrome [RCV001951223] Chr8:100108530..100205295 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3445+3A>T single nucleotide variant Cohen syndrome [RCV001931991] Chr8:99442638 [GRCh38]
Chr8:100454866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2881T>C (p.Tyr961His) single nucleotide variant Cohen syndrome [RCV001880807] Chr8:99384264 [GRCh38]
Chr8:100396492 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100587866)_(100589881_?)dup duplication Cohen syndrome [RCV001951230] Chr8:100587866..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val) single nucleotide variant Cohen syndrome [RCV001989333]|Inborn genetic diseases [RCV002625356]|VPS13B-related disorder [RCV004744203] Chr8:99442461 [GRCh38]
Chr8:100454689 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg) insertion Cohen syndrome [RCV001974899] Chr8:99699764..99699765 [GRCh38]
Chr8:100711992..100711993 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9156A>T (p.Arg3052Ser) single nucleotide variant Cohen syndrome [RCV001974904]|VPS13B-related disorder [RCV004744161] Chr8:99821455 [GRCh38]
Chr8:100833683 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1008G>C (p.Gln336His) single nucleotide variant Cohen syndrome [RCV001957421] Chr8:99121247 [GRCh38]
Chr8:100133475 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) single nucleotide variant Cohen syndrome [RCV001904127]|VPS13B-related disorder [RCV003401782] Chr8:99853627 [GRCh38]
Chr8:100865855 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.483del (p.Lys161fs) deletion Cohen syndrome [RCV001951357] Chr8:99103020 [GRCh38]
Chr8:100115248 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_017890.5(VPS13B):c.4195G>A (p.Gly1399Ser) single nucleotide variant Cohen syndrome [RCV002026526] Chr8:99507807 [GRCh38]
Chr8:100520035 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4870G>C (p.Glu1624Gln) single nucleotide variant Cohen syndrome [RCV002027848] Chr8:99556574 [GRCh38]
Chr8:100568802 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr) single nucleotide variant Cohen syndrome [RCV001920052]|Inborn genetic diseases [RCV003355621] Chr8:99835713 [GRCh38]
Chr8:100847941 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3679del (p.Tyr1227fs) deletion Cohen syndrome [RCV001972364] Chr8:99481611 [GRCh38]
Chr8:100493839 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100493807)_(100533258_?)del deletion Cohen syndrome [RCV001972429] Chr8:100493807..100533258 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11959G>C (p.Val3987Leu) single nucleotide variant Cohen syndrome [RCV001866984] Chr8:99875631 [GRCh38]
Chr8:100887859 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs) deletion Cohen syndrome [RCV001952776] Chr8:99835638..99835657 [GRCh38]
Chr8:100847866..100847885 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter) single nucleotide variant Cohen syndrome [RCV001972399] Chr8:99854085 [GRCh38]
Chr8:100866313 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11929G>A (p.Ala3977Thr) single nucleotide variant Cohen syndrome [RCV001974897] Chr8:99875601 [GRCh38]
Chr8:100887829 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2693C>T (p.Pro898Leu) single nucleotide variant Cohen syndrome [RCV002010152] Chr8:99275123 [GRCh38]
Chr8:100287351 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter) single nucleotide variant Cohen syndrome [RCV001922295] Chr8:99013933 [GRCh38]
Chr8:100026161 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5819T>C (p.Leu1940Pro) single nucleotide variant Cohen syndrome [RCV002016699] Chr8:99642409 [GRCh38]
Chr8:100654637 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8824A>G (p.Met2942Val) single nucleotide variant Cohen syndrome [RCV001922939] Chr8:99819952 [GRCh38]
Chr8:100832180 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100882993)_(100883945_?)dup duplication Cohen syndrome [RCV002027988] Chr8:100882993..100883945 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.498T>G (p.Asp166Glu) single nucleotide variant Cohen syndrome [RCV001976358] Chr8:99103038 [GRCh38]
Chr8:100115266 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100026017)_(100026183_?)dup duplication Cohen syndrome [RCV001919002] Chr8:100026017..100026183 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3568C>A (p.Gln1190Lys) single nucleotide variant Cohen syndrome [RCV001904510] Chr8:99467536 [GRCh38]
Chr8:100479764 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10936del (p.Val3646fs) deletion Cohen syndrome [RCV001959027] Chr8:99859369 [GRCh38]
Chr8:100871597 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8444T>G (p.Met2815Arg) single nucleotide variant Cohen syndrome [RCV001884330] Chr8:99818533 [GRCh38]
Chr8:100830761 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7429+11T>C single nucleotide variant Cohen syndrome [RCV001886212] Chr8:99776967 [GRCh38]
Chr8:100789195 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6556A>G (p.Thr2186Ala) single nucleotide variant Cohen syndrome [RCV002019916] Chr8:99717272 [GRCh38]
Chr8:100729500 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9208A>G (p.Met3070Val) single nucleotide variant Cohen syndrome [RCV001897731] Chr8:99823856 [GRCh38]
Chr8:100836084 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2241G>C (p.Leu747Phe) single nucleotide variant Cohen syndrome [RCV001976491] Chr8:99170071 [GRCh38]
Chr8:100182299 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2452C>T (p.Leu818Phe) single nucleotide variant Cohen syndrome [RCV001990930] Chr8:99192994 [GRCh38]
Chr8:100205222 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7683G>T (p.Lys2561Asn) single nucleotide variant Cohen syndrome [RCV001867141] Chr8:99778935 [GRCh38]
Chr8:100791163 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.107T>A (p.Val36Glu) single nucleotide variant Cohen syndrome [RCV001993588] Chr8:99013895 [GRCh38]
Chr8:100026123 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3221A>G (p.Gln1074Arg) single nucleotide variant Cohen syndrome [RCV002031666] Chr8:99442411 [GRCh38]
Chr8:100454639 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7645T>C (p.Phe2549Leu) single nucleotide variant Cohen syndrome [RCV001904540]|VPS13B-related disorder [RCV004743602] Chr8:99778897 [GRCh38]
Chr8:100791125 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7153G>A (p.Asp2385Asn) single nucleotide variant Cohen syndrome [RCV002033631] Chr8:99766876 [GRCh38]
Chr8:100779104 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11692AAC[1] (p.Asn3899del) microsatellite Cohen syndrome [RCV001997564] Chr8:99871644..99871646 [GRCh38]
Chr8:100883872..100883874 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6563A>G (p.Asn2188Ser) single nucleotide variant Cohen syndrome [RCV001931042]|VPS13B-related disorder [RCV004743651] Chr8:99717279 [GRCh38]
Chr8:100729507 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4634-2A>G single nucleotide variant Cohen syndrome [RCV002011629] Chr8:99520897 [GRCh38]
Chr8:100533125 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4456A>G (p.Ile1486Val) single nucleotide variant Cohen syndrome [RCV001937027] Chr8:99511335 [GRCh38]
Chr8:100523563 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.451G>A (p.Val151Ile) single nucleotide variant Cohen syndrome [RCV001958501] Chr8:99102991 [GRCh38]
Chr8:100115219 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100443745)_(100443912_?)del deletion Cohen syndrome [RCV001959111] Chr8:100443745..100443912 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg) single nucleotide variant Cohen syndrome [RCV001932473]|VPS13B-related disorder [RCV004728878] Chr8:99136681 [GRCh38]
Chr8:100148909 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His) single nucleotide variant Cohen syndrome [RCV001933723]|Inborn genetic diseases [RCV002561381]|VPS13B-related disorder [RCV003911106] Chr8:99853897 [GRCh38]
Chr8:100866125 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10242G>T (p.Leu3414Phe) single nucleotide variant Cohen syndrome [RCV001920504] Chr8:99853631 [GRCh38]
Chr8:100865859 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8269A>G (p.Thr2757Ala) single nucleotide variant Cohen syndrome [RCV002033717] Chr8:99817711 [GRCh38]
Chr8:100829939 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742+13C>G single nucleotide variant Cohen syndrome [RCV001951836] Chr8:99835337 [GRCh38]
Chr8:100847565 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr) single nucleotide variant Cohen syndrome [RCV001897992]|Inborn genetic diseases [RCV004039120]|not provided [RCV004770260] Chr8:99835584 [GRCh38]
Chr8:100847812 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3955A>G (p.Ser1319Gly) single nucleotide variant Cohen syndrome [RCV001867378] Chr8:99501771 [GRCh38]
Chr8:100513999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) single nucleotide variant Cohen syndrome [RCV001935255] Chr8:99870811 [GRCh38]
Chr8:100883039 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.3211-16T>A single nucleotide variant Cohen syndrome [RCV001998289] Chr8:99442385 [GRCh38]
Chr8:100454613 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2843G>A (p.Ser948Asn) single nucleotide variant Cohen syndrome [RCV001916770] Chr8:99384226 [GRCh38]
Chr8:100396454 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6579G>C (p.Trp2193Cys) single nucleotide variant Cohen syndrome [RCV001991271] Chr8:99717295 [GRCh38]
Chr8:100729523 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=) single nucleotide variant Cohen syndrome [RCV001957824]|Inborn genetic diseases [RCV002386770]|VPS13B-related disorder [RCV003911117] Chr8:99853589 [GRCh38]
Chr8:100865817 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1721C>G (p.Thr574Ser) single nucleotide variant Cohen syndrome [RCV001924625] Chr8:99143043 [GRCh38]
Chr8:100155271 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe) single nucleotide variant Cohen syndrome [RCV001981293]|Inborn genetic diseases [RCV002331507] Chr8:99511258 [GRCh38]
Chr8:100523486 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7658C>T (p.Ala2553Val) single nucleotide variant Cohen syndrome [RCV001920820] Chr8:99778910 [GRCh38]
Chr8:100791138 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11191T>C (p.Ser3731Pro) single nucleotide variant Cohen syndrome [RCV001938581] Chr8:99861922 [GRCh38]
Chr8:100874150 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6362A>G (p.Glu2121Gly) single nucleotide variant Cohen syndrome [RCV001980154] Chr8:99699840 [GRCh38]
Chr8:100712068 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2824G>T (p.Gly942Cys) single nucleotide variant Cohen syndrome [RCV002035685] Chr8:99275254 [GRCh38]
Chr8:100287482 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10382G>C (p.Ser3461Thr) single nucleotide variant Cohen syndrome [RCV001866352] Chr8:99853771 [GRCh38]
Chr8:100865999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11723C>G (p.Pro3908Arg) single nucleotide variant Cohen syndrome [RCV001936325] Chr8:99871675 [GRCh38]
Chr8:100883903 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4634C>G (p.Ala1545Gly) single nucleotide variant Cohen syndrome [RCV001939216] Chr8:99520899 [GRCh38]
Chr8:100533127 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11481T>G (p.His3827Gln) single nucleotide variant Cohen syndrome [RCV001925281] Chr8:99870873 [GRCh38]
Chr8:100883101 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5017A>G (p.Thr1673Ala) single nucleotide variant Cohen syndrome [RCV002045910] Chr8:99575725 [GRCh38]
Chr8:100587953 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.902C>G (p.Thr301Ser) single nucleotide variant Cohen syndrome [RCV002048548] Chr8:99115839 [GRCh38]
Chr8:100128067 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11660C>T (p.Thr3887Ile) single nucleotide variant Cohen syndrome [RCV001900882] Chr8:99871612 [GRCh38]
Chr8:100883840 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3385A>G (p.Lys1129Glu) single nucleotide variant Cohen syndrome [RCV001978957] Chr8:99442575 [GRCh38]
Chr8:100454803 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2498A>G (p.Glu833Gly) single nucleotide variant Cohen syndrome [RCV001958008] Chr8:99193040 [GRCh38]
Chr8:100205268 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs) deletion Cohen syndrome [RCV001958694] Chr8:99766856 [GRCh38]
Chr8:100779084 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2642A>C (p.Lys881Thr) single nucleotide variant Cohen syndrome [RCV001996637] Chr8:99274324 [GRCh38]
Chr8:100286552 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100026017)_(100149000_?)dup duplication Cohen syndrome [RCV001997205] Chr8:100026017..100149000 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2309A>G (p.Lys770Arg) single nucleotide variant Cohen syndrome [RCV001998457] Chr8:99170139 [GRCh38]
Chr8:100182367 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter) single nucleotide variant Cohen syndrome [RCV001864782] Chr8:99809418 [GRCh38]
Chr8:100821646 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6132G>T (p.Lys2044Asn) single nucleotide variant Cohen syndrome [RCV002012132] Chr8:99699610 [GRCh38]
Chr8:100711838 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100286416)_(100454873_?)del deletion Cohen syndrome [RCV001960570] Chr8:100286416..100454873 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7509A>G (p.Arg2503=) single nucleotide variant Cohen syndrome [RCV001989014] Chr8:99778761 [GRCh38]
Chr8:100790989 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro) single nucleotide variant Cohen syndrome [RCV001897143]|not provided [RCV003128823] Chr8:99875578 [GRCh38]
Chr8:100887806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9300A>T (p.Leu3100=) single nucleotide variant Cohen syndrome [RCV001950984] Chr8:99823948 [GRCh38]
Chr8:100836176 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9359T>C (p.Phe3120Ser) single nucleotide variant Cohen syndrome [RCV001899814] Chr8:99832397 [GRCh38]
Chr8:100844625 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6117C>A (p.Asn2039Lys) single nucleotide variant Cohen syndrome [RCV001879434] Chr8:99699595 [GRCh38]
Chr8:100711823 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1302+14A>G single nucleotide variant Cohen syndrome [RCV001950979] Chr8:99134741 [GRCh38]
Chr8:100146969 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1429G>T (p.Ala477Ser) single nucleotide variant Cohen syndrome [RCV002050036] Chr8:99135599 [GRCh38]
Chr8:100147827 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln) single nucleotide variant Cohen syndrome [RCV002030161] Chr8:99819487 [GRCh38]
Chr8:100831715 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9377G>A (p.Gly3126Glu) single nucleotide variant Cohen syndrome [RCV001904850] Chr8:99832415 [GRCh38]
Chr8:100844643 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.746T>C (p.Met249Thr) single nucleotide variant Cohen syndrome [RCV001980303] Chr8:99111263 [GRCh38]
Chr8:100123491 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val) single nucleotide variant Cohen syndrome [RCV001924786]|Inborn genetic diseases [RCV003355613]|VPS13B-related disorder [RCV004728897] Chr8:99832513 [GRCh38]
Chr8:100844741 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter) single nucleotide variant Cohen syndrome [RCV002035259] Chr8:99431605 [GRCh38]
Chr8:100443833 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6073C>G (p.Pro2025Ala) single nucleotide variant Cohen syndrome [RCV001866652] Chr8:99699551 [GRCh38]
Chr8:100711779 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8755C>A (p.Gln2919Lys) single nucleotide variant Cohen syndrome [RCV001901216] Chr8:99819545 [GRCh38]
Chr8:100831773 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9513C>G (p.Ser3171Arg) single nucleotide variant Cohen syndrome [RCV001879550] Chr8:99832551 [GRCh38]
Chr8:100844779 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11099G>T (p.Arg3700Leu) single nucleotide variant Cohen syndrome [RCV001937566] Chr8:99861830 [GRCh38]
Chr8:100874058 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100493817)_(100588022_?)del deletion Cohen syndrome [RCV001958824] Chr8:100493817..100588022 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5953T>G (p.Trp1985Gly) single nucleotide variant Cohen syndrome [RCV002046247] Chr8:99661398 [GRCh38]
Chr8:100673626 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100443755)_(100568891_?)del deletion Cohen syndrome [RCV001953775] Chr8:100443755..100568891 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1168A>G (p.Ile390Val) single nucleotide variant Cohen syndrome [RCV001976081]|VPS13B-related disorder [RCV003408037] Chr8:99121407 [GRCh38]
Chr8:100133635 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9911A>G (p.Asp3304Gly) single nucleotide variant Cohen syndrome [RCV001976139] Chr8:99835707 [GRCh38]
Chr8:100847935 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11690A>G (p.Gln3897Arg) single nucleotide variant Cohen syndrome [RCV001915975] Chr8:99871642 [GRCh38]
Chr8:100883870 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5653G>A (p.Gly1885Arg) single nucleotide variant Cohen syndrome [RCV001994367] Chr8:99642243 [GRCh38]
Chr8:100654471 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3470G>T (p.Ser1157Ile) single nucleotide variant Cohen syndrome [RCV001936586] Chr8:99467438 [GRCh38]
Chr8:100479666 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10705A>G (p.Asn3569Asp) single nucleotide variant Cohen syndrome [RCV001918728] Chr8:99854094 [GRCh38]
Chr8:100866322 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs) deletion Cohen syndrome [RCV001993243] Chr8:99661375 [GRCh38]
Chr8:100673603 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9615-1G>A single nucleotide variant Cohen syndrome [RCV001881028] Chr8:99835196 [GRCh38]
Chr8:100847424 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4270C>T (p.Leu1424Phe) single nucleotide variant Cohen syndrome [RCV001883618] Chr8:99511149 [GRCh38]
Chr8:100523377 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100403765)_(100403952_?)del deletion Cohen syndrome [RCV001951303] Chr8:100403765..100403952 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4582G>C (p.Val1528Leu) single nucleotide variant Cohen syndrome [RCV002027904] Chr8:99511461 [GRCh38]
Chr8:100523689 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2561A>G (p.Gln854Arg) single nucleotide variant Cohen syndrome [RCV001917528] Chr8:99274243 [GRCh38]
Chr8:100286471 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2012A>G (p.Lys671Arg) single nucleotide variant Cohen syndrome [RCV001898835] Chr8:99148009 [GRCh38]
Chr8:100160237 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs) microsatellite Cohen syndrome [RCV001958943] Chr8:99875444..99875445 [GRCh38]
Chr8:100887672..100887673 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100790900)_(100836216_?)dup duplication Cohen syndrome [RCV002034110] Chr8:100790900..100836216 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100654029)_(100733285_?)del deletion Cohen syndrome [RCV001958958] Chr8:100654029..100733285 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr) single nucleotide variant Cohen syndrome [RCV001997481]|not provided [RCV005001258] Chr8:99854088 [GRCh38]
Chr8:100866316 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4282T>C (p.Tyr1428His) single nucleotide variant Cohen syndrome [RCV001905655] Chr8:99511161 [GRCh38]
Chr8:100523389 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6529C>A (p.Arg2177Ser) single nucleotide variant Cohen syndrome [RCV001981028] Chr8:99717245 [GRCh38]
Chr8:100729473 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7319C>T (p.Thr2440Ile) single nucleotide variant Cohen syndrome [RCV001952799]|VPS13B-related disorder [RCV004743667] Chr8:99776846 [GRCh38]
Chr8:100789074 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6221A>C (p.Lys2074Thr) single nucleotide variant Cohen syndrome [RCV002026634]|VPS13B-related disorder [RCV004744215] Chr8:99699699 [GRCh38]
Chr8:100711927 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9183+1G>A single nucleotide variant Cohen syndrome [RCV001990824] Chr8:99821483 [GRCh38]
Chr8:100833711 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val) single nucleotide variant Cohen syndrome [RCV001870295]|Inborn genetic diseases [RCV002545851] Chr8:99809378 [GRCh38]
Chr8:100821606 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4233C>T (p.Arg1411=) single nucleotide variant Cohen syndrome [RCV001923191] Chr8:99507845 [GRCh38]
Chr8:100520073 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.8293G>A (p.Gly2765Arg) single nucleotide variant Cohen syndrome [RCV001883697] Chr8:99817735 [GRCh38]
Chr8:100829963 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter) single nucleotide variant Cohen syndrome [RCV001972506] Chr8:99835701 [GRCh38]
Chr8:100847929 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3503G>A (p.Gly1168Glu) single nucleotide variant Cohen syndrome [RCV001918961] Chr8:99467471 [GRCh38]
Chr8:100479699 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.505C>T (p.Leu169Phe) single nucleotide variant Cohen syndrome [RCV001921343] Chr8:99103045 [GRCh38]
Chr8:100115273 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter) single nucleotide variant Cohen syndrome [RCV001880919] Chr8:99467429 [GRCh38]
Chr8:100479657 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_99135566)_(100205305_?)dup duplication Cohen syndrome [RCV001980003] Chr8:99135566..100205305 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2419C>G (p.Leu807Val) single nucleotide variant Cohen syndrome [RCV001979917] Chr8:99192961 [GRCh38]
Chr8:100205189 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11059A>G (p.Ile3687Val) single nucleotide variant Cohen syndrome [RCV002017704]|VPS13B-related disorder [RCV003893075] Chr8:99861790 [GRCh38]
Chr8:100874018 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11129G>A (p.Arg3710Gln) single nucleotide variant Cohen syndrome [RCV001923857]|VPS13B-related disorder [RCV003401894] Chr8:99861860 [GRCh38]
Chr8:100874088 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.610A>G (p.Asn204Asp) single nucleotide variant Cohen syndrome [RCV002011294] Chr8:99111127 [GRCh38]
Chr8:100123355 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4130G>T (p.Ser1377Ile) single nucleotide variant Cohen syndrome [RCV001878902] Chr8:99502923 [GRCh38]
Chr8:100515151 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8506T>G (p.Leu2836Val) single nucleotide variant Cohen syndrome [RCV002033956] Chr8:99818773 [GRCh38]
Chr8:100831001 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8788G>A (p.Asp2930Asn) single nucleotide variant Cohen syndrome [RCV002018467] Chr8:99819578 [GRCh38]
Chr8:100831806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2934G>A (p.Gln978=) single nucleotide variant Cohen syndrome [RCV001997236] Chr8:99384317 [GRCh38]
Chr8:100396545 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr) single nucleotide variant Cohen syndrome [RCV001997274]|Inborn genetic diseases [RCV004970640]|not provided [RCV003128836] Chr8:99556481 [GRCh38]
Chr8:100568709 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1735A>G (p.Ile579Val) single nucleotide variant Cohen syndrome [RCV001924125] Chr8:99143057 [GRCh38]
Chr8:100155285 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8621+4C>G single nucleotide variant Cohen syndrome [RCV001980258] Chr8:99818892 [GRCh38]
Chr8:100831120 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-2A>G single nucleotide variant Cohen syndrome [RCV001980262] Chr8:99832367 [GRCh38]
Chr8:100844595 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5818C>G (p.Leu1940Val) single nucleotide variant Cohen syndrome [RCV001924151]|Inborn genetic diseases [RCV004970547] Chr8:99642408 [GRCh38]
Chr8:100654636 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1094A>C (p.Asp365Ala) single nucleotide variant Cohen syndrome [RCV001938206] Chr8:99121333 [GRCh38]
Chr8:100133561 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3882A>G (p.Ile1294Met) single nucleotide variant Cohen syndrome [RCV001905282] Chr8:99501698 [GRCh38]
Chr8:100513926 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser) single nucleotide variant Cohen syndrome [RCV001937979] Chr8:99556533 [GRCh38]
Chr8:100568761 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11608C>G (p.Leu3870Val) single nucleotide variant Cohen syndrome [RCV001980746] Chr8:99871560 [GRCh38]
Chr8:100883788 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11252A>T (p.Asn3751Ile) single nucleotide variant Cohen syndrome [RCV001905492] Chr8:99868325 [GRCh38]
Chr8:100880553 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val) single nucleotide variant Cohen syndrome [RCV001925149]|Inborn genetic diseases [RCV002555298] Chr8:99778771 [GRCh38]
Chr8:100790999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1574C>G (p.Thr525Ser) single nucleotide variant Cohen syndrome [RCV001998283] Chr8:99136675 [GRCh38]
Chr8:100148903 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9388G>C (p.Ala3130Pro) single nucleotide variant Cohen syndrome [RCV002035808]|Inborn genetic diseases [RCV004046156] Chr8:99832426 [GRCh38]
Chr8:100844654 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1652-2A>T single nucleotide variant Cohen syndrome [RCV002035956] Chr8:99142972 [GRCh38]
Chr8:100155200 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2800T>C (p.Tyr934His) single nucleotide variant Cohen syndrome [RCV002036177]|VPS13B-related disorder [RCV004744218] Chr8:99275230 [GRCh38]
Chr8:100287458 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10403A>G (p.Glu3468Gly) single nucleotide variant Cohen syndrome [RCV001980370] Chr8:99853792 [GRCh38]
Chr8:100866020 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10076T>C (p.Ile3359Thr) single nucleotide variant Cohen syndrome [RCV001938887] Chr8:99853465 [GRCh38]
Chr8:100865693 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6823G>C (p.Asp2275His) single nucleotide variant Cohen syndrome [RCV001906630] Chr8:99720510 [GRCh38]
Chr8:100732738 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8107T>C (p.Cys2703Arg) single nucleotide variant Cohen syndrome [RCV001998874] Chr8:99817549 [GRCh38]
Chr8:100829777 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2845A>G (p.Ile949Val) single nucleotide variant Cohen syndrome [RCV001886267] Chr8:99384228 [GRCh38]
Chr8:100396456 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.744G>T (p.Lys248Asn) single nucleotide variant Cohen syndrome [RCV001884737] Chr8:99111261 [GRCh38]
Chr8:100123489 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro) single nucleotide variant Cohen syndrome [RCV002035119]|Inborn genetic diseases [RCV003365465] Chr8:99481701 [GRCh38]
Chr8:100493929 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1528C>G (p.Arg510Gly) single nucleotide variant Cohen syndrome [RCV001981887]|not provided [RCV004693996] Chr8:99135698 [GRCh38]
Chr8:100147926 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1564-3C>T single nucleotide variant Cohen syndrome [RCV001998935] Chr8:99136662 [GRCh38]
Chr8:100148890 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6589A>C (p.Ser2197Arg) single nucleotide variant Cohen syndrome [RCV001915624] Chr8:99717305 [GRCh38]
Chr8:100729533 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7430C>T (p.Ala2477Val) single nucleotide variant Cohen syndrome [RCV001917564] Chr8:99778682 [GRCh38]
Chr8:100790910 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4310G>T (p.Arg1437Leu) single nucleotide variant Cohen syndrome [RCV001954559] Chr8:99511189 [GRCh38]
Chr8:100523417 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.896del (p.Asp299fs) deletion Cohen syndrome [RCV001956377] Chr8:99115833 [GRCh38]
Chr8:100128061 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11794G>A (p.Val3932Met) single nucleotide variant Cohen syndrome [RCV001995683] Chr8:99875466 [GRCh38]
Chr8:100887694 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.884G>A (p.Gly295Asp) single nucleotide variant Cohen syndrome [RCV001906563] Chr8:99115821 [GRCh38]
Chr8:100128049 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) single nucleotide variant Cohen syndrome [RCV001981696]|Inborn genetic diseases [RCV002562884]|VPS13B-related disorder [RCV003923384] Chr8:99853886 [GRCh38]
Chr8:100866114 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser) single nucleotide variant Cohen syndrome [RCV001982317] Chr8:99501717 [GRCh38]
Chr8:100513945 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4889T>C (p.Val1630Ala) single nucleotide variant Cohen syndrome [RCV001886264]|Inborn genetic diseases [RCV004681288] Chr8:99556593 [GRCh38]
Chr8:100568821 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100778144)_(100779154_?)del deletion Cohen syndrome [RCV002027991] Chr8:100778144..100779154 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2935-1G>A single nucleotide variant Cohen syndrome [RCV002011473] Chr8:99391556 [GRCh38]
Chr8:100403784 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2516-17C>T single nucleotide variant Cohen syndrome [RCV001899037] Chr8:99274181 [GRCh38]
Chr8:100286409 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly) single nucleotide variant Cohen syndrome [RCV001937213]|Inborn genetic diseases [RCV004686696]|VPS13B-related disorder [RCV004743609] Chr8:99641949 [GRCh38]
Chr8:100654177 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9782C>T (p.Ser3261Phe) single nucleotide variant Cohen syndrome [RCV001952760]|not provided [RCV004591646] Chr8:99835578 [GRCh38]
Chr8:100847806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5677C>T (p.Leu1893Phe) single nucleotide variant Cohen syndrome [RCV001919346]|VPS13B-related disorder [RCV003401900] Chr8:99642267 [GRCh38]
Chr8:100654495 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100568668)_(100589871_?)del deletion Cohen syndrome [RCV002051405] Chr8:100568668..100589871 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1956T>G (p.Ile652Met) single nucleotide variant Cohen syndrome [RCV001882252] Chr8:99147953 [GRCh38]
Chr8:100160181 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1563+1G>T single nucleotide variant Cohen syndrome [RCV002046127] Chr8:99135734 [GRCh38]
Chr8:100147962 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1025C>T (p.Pro342Leu) single nucleotide variant Cohen syndrome [RCV002011604] Chr8:99121264 [GRCh38]
Chr8:100133492 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9143A>G (p.Asp3048Gly) single nucleotide variant Cohen syndrome [RCV001902635] Chr8:99821442 [GRCh38]
Chr8:100833670 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1143G>C (p.Gln381His) single nucleotide variant Cohen syndrome [RCV001977504] Chr8:99121382 [GRCh38]
Chr8:100133610 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7960G>A (p.Glu2654Lys) single nucleotide variant Cohen syndrome [RCV001995844] Chr8:99809393 [GRCh38]
Chr8:100821621 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9391A>G (p.Met3131Val) single nucleotide variant Cohen syndrome [RCV001951968] Chr8:99832429 [GRCh38]
Chr8:100844657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5660A>C (p.Lys1887Thr) single nucleotide variant Cohen syndrome [RCV001878185]|Inborn genetic diseases [RCV004968360] Chr8:99642250 [GRCh38]
Chr8:100654478 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11527G>A (p.Val3843Ile) single nucleotide variant Cohen syndrome [RCV001935851] Chr8:99871479 [GRCh38]
Chr8:100883707 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2032A>G (p.Asn678Asp) single nucleotide variant Cohen syndrome [RCV002031591] Chr8:99156567 [GRCh38]
Chr8:100168795 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11860C>T (p.Pro3954Ser) single nucleotide variant Cohen syndrome [RCV002029028] Chr8:99875532 [GRCh38]
Chr8:100887760 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6184A>G (p.Asn2062Asp) single nucleotide variant Cohen syndrome [RCV001878338] Chr8:99699662 [GRCh38]
Chr8:100711890 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9388G>A (p.Ala3130Thr) single nucleotide variant Cohen syndrome [RCV002026127] Chr8:99832426 [GRCh38]
Chr8:100844654 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6266G>A (p.Gly2089Glu) single nucleotide variant Cohen syndrome [RCV001990115] Chr8:99699744 [GRCh38]
Chr8:100711972 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100205094)_(100287492_?)del deletion Cohen syndrome [RCV001951219] Chr8:100205094..100287492 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3512T>G (p.Val1171Gly) single nucleotide variant Cohen syndrome [RCV002011724] Chr8:99467480 [GRCh38]
Chr8:100479708 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5126T>C (p.Leu1709Pro) single nucleotide variant Cohen syndrome [RCV002029951] Chr8:99577539 [GRCh38]
Chr8:100589767 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1726A>G (p.Ser576Gly) single nucleotide variant Cohen syndrome [RCV002014294] Chr8:99143048 [GRCh38]
Chr8:100155276 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.359T>A (p.Ile120Asn) single nucleotide variant Cohen syndrome [RCV002030110] Chr8:99096379 [GRCh38]
Chr8:100108607 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10765C>T (p.Leu3589Phe) single nucleotide variant Cohen syndrome [RCV001882936] Chr8:99854154 [GRCh38]
Chr8:100866382 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100108530)_(100182401_?)dup duplication Cohen syndrome [RCV002046399] Chr8:100108530..100182401 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6226T>G (p.Tyr2076Asp) single nucleotide variant Cohen syndrome [RCV001902029] Chr8:99699704 [GRCh38]
Chr8:100711932 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1318G>A (p.Glu440Lys) single nucleotide variant Cohen syndrome [RCV001996294] Chr8:99135030 [GRCh38]
Chr8:100147258 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100108530)_(100589871_?)del deletion Cohen syndrome [RCV001951224] Chr8:100108530..100589871 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10867+1G>A single nucleotide variant Cohen syndrome [RCV002050892] Chr8:99854257 [GRCh38]
Chr8:100866485 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln) single nucleotide variant Cohen syndrome [RCV001936250]|VPS13B-related disorder [RCV003407967] Chr8:99776917 [GRCh38]
Chr8:100789145 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10037G>C (p.Gly3346Ala) single nucleotide variant Cohen syndrome [RCV001921662] Chr8:99848870 [GRCh38]
Chr8:100861098 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9111A>G (p.Glu3037=) single nucleotide variant Cohen syndrome [RCV001869990] Chr8:99821410 [GRCh38]
Chr8:100833638 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_017890.5(VPS13B):c.4198G>A (p.Val1400Ile) single nucleotide variant Cohen syndrome [RCV001996457] Chr8:99507810 [GRCh38]
Chr8:100520038 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100205094)_(100205295_?)dup duplication Cohen syndrome [RCV002046387] Chr8:100205094..100205295 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4970G>A (p.Arg1657Lys) single nucleotide variant Cohen syndrome [RCV001931769] Chr8:99575678 [GRCh38]
Chr8:100587906 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7492A>G (p.Met2498Val) single nucleotide variant Cohen syndrome [RCV001883073] Chr8:99778744 [GRCh38]
Chr8:100790972 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter) single nucleotide variant Cohen syndrome [RCV001953411] Chr8:99520982 [GRCh38]
Chr8:100533210 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter) single nucleotide variant Cohen syndrome [RCV001953423] Chr8:99501790 [GRCh38]
Chr8:100514018 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly) single nucleotide variant Cohen syndrome [RCV001952408]|VPS13B-related disorder [RCV003416629] Chr8:99136743 [GRCh38]
Chr8:100148971 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2445G>T (p.Trp815Cys) single nucleotide variant Cohen syndrome [RCV001866671] Chr8:99192987 [GRCh38]
Chr8:100205215 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1954A>G (p.Ile652Val) single nucleotide variant Cohen syndrome [RCV001918121] Chr8:99147951 [GRCh38]
Chr8:100160179 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5720C>T (p.Ala1907Val) single nucleotide variant Cohen syndrome [RCV001917418] Chr8:99642310 [GRCh38]
Chr8:100654538 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5840A>G (p.Lys1947Arg) single nucleotide variant Cohen syndrome [RCV001977169] Chr8:99642430 [GRCh38]
Chr8:100654658 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7147_7149del (p.Leu2383del) deletion Cohen syndrome [RCV001876992] Chr8:99766869..99766871 [GRCh38]
Chr8:100779097..100779099 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3546C>T (p.Thr1182=) single nucleotide variant Cohen syndrome [RCV002128034] Chr8:99467514 [GRCh38]
Chr8:100479742 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5658A>G (p.Lys1886=) single nucleotide variant Cohen syndrome [RCV002108049] Chr8:99642248 [GRCh38]
Chr8:100654476 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4950-10dup duplication Cohen syndrome [RCV002168248]|VPS13B-related disorder [RCV003892191] Chr8:99575647..99575648 [GRCh38]
Chr8:100587875..100587876 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10359C>A (p.Pro3453=) single nucleotide variant Cohen syndrome [RCV002087305] Chr8:99853748 [GRCh38]
Chr8:100865976 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3012C>T (p.Pro1004=) single nucleotide variant Cohen syndrome [RCV002088913] Chr8:99391634 [GRCh38]
Chr8:100403862 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9405C>A (p.Ser3135=) single nucleotide variant Cohen syndrome [RCV002188869] Chr8:99832443 [GRCh38]
Chr8:100844671 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9492T>G (p.Ser3164=) single nucleotide variant Cohen syndrome [RCV002088424] Chr8:99832530 [GRCh38]
Chr8:100844758 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2322C>T (p.Leu774=) single nucleotide variant Cohen syndrome [RCV002109981] Chr8:99170152 [GRCh38]
Chr8:100182380 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11008A>C (p.Arg3670=) single nucleotide variant Cohen syndrome [RCV002189251] Chr8:99859444 [GRCh38]
Chr8:100871672 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10764T>G (p.Pro3588=) single nucleotide variant Cohen syndrome [RCV002189354] Chr8:99854153 [GRCh38]
Chr8:100866381 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+8T>C single nucleotide variant Cohen syndrome [RCV002090779] Chr8:99871705 [GRCh38]
Chr8:100883933 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11325A>G (p.Lys3775=) single nucleotide variant Cohen syndrome [RCV002107248] Chr8:99868398 [GRCh38]
Chr8:100880626 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9588T>C (p.Asn3196=) single nucleotide variant Cohen syndrome [RCV002126801] Chr8:99832626 [GRCh38]
Chr8:100844854 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1491A>G (p.Ser497=) single nucleotide variant Cohen syndrome [RCV002110165] Chr8:99135661 [GRCh38]
Chr8:100147889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3339A>G (p.Thr1113=) single nucleotide variant Cohen syndrome [RCV002104520] Chr8:99442529 [GRCh38]
Chr8:100454757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4336C>A (p.Arg1446=) single nucleotide variant Cohen syndrome [RCV002190597] Chr8:99511215 [GRCh38]
Chr8:100523443 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5490C>G (p.Ala1830=) single nucleotide variant Cohen syndrome [RCV002210653] Chr8:99642080 [GRCh38]
Chr8:100654308 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6261T>C (p.Gly2087=) single nucleotide variant Cohen syndrome [RCV002086244] Chr8:99699739 [GRCh38]
Chr8:100711967 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-8dup duplication Cohen syndrome [RCV002127397] Chr8:99641797..99641798 [GRCh38]
Chr8:100654025..100654026 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8058C>T (p.Leu2686=) single nucleotide variant Cohen syndrome [RCV002168729] Chr8:99809491 [GRCh38]
Chr8:100821719 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2013+17G>A single nucleotide variant Cohen syndrome [RCV002091048] Chr8:99148027 [GRCh38]
Chr8:100160255 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8796T>C (p.Asn2932=) single nucleotide variant Cohen syndrome [RCV002186259] Chr8:99819924 [GRCh38]
Chr8:100832152 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5184T>C (p.Asn1728=) single nucleotide variant Cohen syndrome [RCV002088852] Chr8:99577597 [GRCh38]
Chr8:100589825 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9061C>T (p.Leu3021=) single nucleotide variant Cohen syndrome [RCV002146874] Chr8:99821360 [GRCh38]
Chr8:100833588 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10356A>G (p.Glu3452=) single nucleotide variant Cohen syndrome [RCV002145872] Chr8:99853745 [GRCh38]
Chr8:100865973 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11215+12C>T single nucleotide variant Cohen syndrome [RCV002189225] Chr8:99861958 [GRCh38]
Chr8:100874186 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.219A>G (p.Lys73=) single nucleotide variant Cohen syndrome [RCV002185536] Chr8:99038494 [GRCh38]
Chr8:100050722 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+15del deletion Cohen syndrome [RCV002185108] Chr8:99871709 [GRCh38]
Chr8:100883937 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3774G>A (p.Gly1258=) single nucleotide variant Cohen syndrome [RCV002087712] Chr8:99481706 [GRCh38]
Chr8:100493934 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+7G>C single nucleotide variant Cohen syndrome [RCV002110585] Chr8:99835745 [GRCh38]
Chr8:100847973 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11691G>A (p.Gln3897=) single nucleotide variant Cohen syndrome [RCV002189818] Chr8:99871643 [GRCh38]
Chr8:100883871 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8319G>A (p.Val2773=) single nucleotide variant Cohen syndrome [RCV002189416] Chr8:99817761 [GRCh38]
Chr8:100829989 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3618T>C (p.Cys1206=) single nucleotide variant Cohen syndrome [RCV002147440] Chr8:99467586 [GRCh38]
Chr8:100479814 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9276T>C (p.Tyr3092=) single nucleotide variant Cohen syndrome [RCV002086245] Chr8:99823924 [GRCh38]
Chr8:100836152 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6455-13A>G single nucleotide variant Cohen syndrome [RCV002186617] Chr8:99717158 [GRCh38]
Chr8:100729386 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11746-7A>C single nucleotide variant Cohen syndrome [RCV002168504] Chr8:99875411 [GRCh38]
Chr8:100887639 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2333+11C>A single nucleotide variant Cohen syndrome [RCV002208078] Chr8:99170174 [GRCh38]
Chr8:100182402 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6600A>C (p.Pro2200=) single nucleotide variant Cohen syndrome [RCV002208090] Chr8:99717316 [GRCh38]
Chr8:100729544 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.105G>A (p.Val35=) single nucleotide variant Cohen syndrome [RCV002129546] Chr8:99013893 [GRCh38]
Chr8:100026121 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11045-10G>C single nucleotide variant Cohen syndrome [RCV002129022] Chr8:99861766 [GRCh38]
Chr8:100873994 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8097+19A>G single nucleotide variant Cohen syndrome [RCV002207695] Chr8:99809549 [GRCh38]
Chr8:100821777 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3082+17G>A single nucleotide variant Cohen syndrome [RCV002186787] Chr8:99391721 [GRCh38]
Chr8:100403949 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5964A>G (p.Thr1988=) single nucleotide variant Cohen syndrome [RCV002089276] Chr8:99661409 [GRCh38]
Chr8:100673637 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7429+18A>G single nucleotide variant Cohen syndrome [RCV002189532] Chr8:99776974 [GRCh38]
Chr8:100789202 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2646C>T (p.Ala882=) single nucleotide variant Cohen syndrome [RCV002089302] Chr8:99274328 [GRCh38]
Chr8:100286556 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11718G>A (p.Lys3906=) single nucleotide variant Cohen syndrome [RCV002209481] Chr8:99871670 [GRCh38]
Chr8:100883898 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+8T>A single nucleotide variant Cohen syndrome [RCV002112514] Chr8:99835332 [GRCh38]
Chr8:100847560 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1564-6T>C single nucleotide variant Cohen syndrome [RCV002187303] Chr8:99136659 [GRCh38]
Chr8:100148887 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4038C>G (p.Gly1346=) single nucleotide variant Cohen syndrome [RCV002108017] Chr8:99501854 [GRCh38]
Chr8:100514082 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2385T>C (p.Asn795=) single nucleotide variant Cohen syndrome [RCV002089910] Chr8:99192927 [GRCh38]
Chr8:100205155 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4386T>C (p.His1462=) single nucleotide variant Cohen syndrome [RCV002148147] Chr8:99511265 [GRCh38]
Chr8:100523493 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5277C>A (p.Thr1759=) single nucleotide variant Cohen syndrome [RCV002185285] Chr8:99641867 [GRCh38]
Chr8:100654095 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11016C>T (p.Thr3672=) single nucleotide variant Cohen syndrome [RCV002086840] Chr8:99859452 [GRCh38]
Chr8:100871680 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2148C>T (p.Ser716=) single nucleotide variant Cohen syndrome [RCV002187192] Chr8:99156683 [GRCh38]
Chr8:100168911 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2853A>C (p.Gly951=) single nucleotide variant Cohen syndrome [RCV002091248] Chr8:99384236 [GRCh38]
Chr8:100396464 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+8C>T single nucleotide variant Cohen syndrome [RCV002147679] Chr8:99274340 [GRCh38]
Chr8:100286568 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8521C>T (p.Leu2841=) single nucleotide variant Cohen syndrome [RCV002207882] Chr8:99818788 [GRCh38]
Chr8:100831016 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7545T>A (p.Gly2515=) single nucleotide variant Cohen syndrome [RCV002074854] Chr8:99778797 [GRCh38]
Chr8:100791025 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.99A>G (p.Gly33=) single nucleotide variant Cohen syndrome [RCV002111814] Chr8:99013887 [GRCh38]
Chr8:100026115 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1533A>G (p.Ala511=) single nucleotide variant Cohen syndrome [RCV002207941] Chr8:99135703 [GRCh38]
Chr8:100147931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10047A>G (p.Leu3349=) single nucleotide variant Cohen syndrome [RCV002191609] Chr8:99848880 [GRCh38]
Chr8:100861108 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4533C>T (p.Thr1511=) single nucleotide variant Cohen syndrome [RCV002129477] Chr8:99511412 [GRCh38]
Chr8:100523640 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.378G>A (p.Gln126=) single nucleotide variant Cohen syndrome [RCV002075545] Chr8:99096398 [GRCh38]
Chr8:100108626 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7311T>G (p.Ala2437=) single nucleotide variant Cohen syndrome [RCV002106842] Chr8:99776838 [GRCh38]
Chr8:100789066 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2283C>G (p.Pro761=) single nucleotide variant Cohen syndrome [RCV002206483] Chr8:99170113 [GRCh38]
Chr8:100182341 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1656C>A (p.Ser552=) single nucleotide variant Cohen syndrome [RCV002111410] Chr8:99142978 [GRCh38]
Chr8:100155206 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10497T>C (p.Phe3499=) single nucleotide variant Cohen syndrome [RCV002111423]|VPS13B-related disorder [RCV004744264] Chr8:99853886 [GRCh38]
Chr8:100866114 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9933G>A (p.Gln3311=) single nucleotide variant Cohen syndrome [RCV002208618] Chr8:99835729 [GRCh38]
Chr8:100847957 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4530G>A (p.Arg1510=) single nucleotide variant Cohen syndrome [RCV002169883] Chr8:99511409 [GRCh38]
Chr8:100523637 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3585G>T (p.Thr1195=) single nucleotide variant Cohen syndrome [RCV002088325] Chr8:99467553 [GRCh38]
Chr8:100479781 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11044+8G>A single nucleotide variant Cohen syndrome [RCV002167559] Chr8:99859488 [GRCh38]
Chr8:100871716 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1652-8T>G single nucleotide variant Cohen syndrome [RCV002164876]|VPS13B-related disorder [RCV004744230] Chr8:99142966 [GRCh38]
Chr8:100155194 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9231T>C (p.Ile3077=) single nucleotide variant Cohen syndrome [RCV002185731] Chr8:99823879 [GRCh38]
Chr8:100836107 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9743-9A>T single nucleotide variant Cohen syndrome [RCV002071789] Chr8:99835530 [GRCh38]
Chr8:100847758 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8793-16G>A single nucleotide variant Cohen syndrome [RCV002190643] Chr8:99819905 [GRCh38]
Chr8:100832133 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4881A>G (p.Ser1627=) single nucleotide variant Cohen syndrome [RCV002146939] Chr8:99556585 [GRCh38]
Chr8:100568813 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10791A>G (p.Gly3597=) single nucleotide variant Cohen syndrome [RCV002169981] Chr8:99854180 [GRCh38]
Chr8:100866408 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3981G>A (p.Gln1327=) single nucleotide variant Cohen syndrome [RCV002170048] Chr8:99501797 [GRCh38]
Chr8:100514025 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3423C>T (p.Ile1141=) single nucleotide variant Cohen syndrome [RCV002088870] Chr8:99442613 [GRCh38]
Chr8:100454841 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3597A>C (p.Thr1199=) single nucleotide variant Cohen syndrome [RCV002190481] Chr8:99467565 [GRCh38]
Chr8:100479793 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8160C>A (p.Val2720=) single nucleotide variant Cohen syndrome [RCV002111664] Chr8:99817602 [GRCh38]
Chr8:100829830 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10227G>A (p.Glu3409=) single nucleotide variant Cohen syndrome [RCV002185503] Chr8:99853616 [GRCh38]
Chr8:100865844 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10689G>A (p.Leu3563=) single nucleotide variant Cohen syndrome [RCV002192351] Chr8:99854078 [GRCh38]
Chr8:100866306 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10644A>T (p.Thr3548=) single nucleotide variant Cohen syndrome [RCV002192371] Chr8:99854033 [GRCh38]
Chr8:100866261 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9483G>A (p.Leu3161=) single nucleotide variant Cohen syndrome [RCV002090216] Chr8:99832521 [GRCh38]
Chr8:100844749 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7429+7T>C single nucleotide variant Cohen syndrome [RCV002167990] Chr8:99776963 [GRCh38]
Chr8:100789191 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8895G>C (p.Leu2965=) single nucleotide variant Cohen syndrome [RCV002092496]|VPS13B-related disorder [RCV004744224] Chr8:99820023 [GRCh38]
Chr8:100832251 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9735C>T (p.Asn3245=) single nucleotide variant Cohen syndrome [RCV002165524] Chr8:99835317 [GRCh38]
Chr8:100847545 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1665A>G (p.Gln555=) single nucleotide variant Cohen syndrome [RCV002092260] Chr8:99142987 [GRCh38]
Chr8:100155215 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10681C>A (p.Arg3561=) single nucleotide variant Cohen syndrome [RCV002110207] Chr8:99854070 [GRCh38]
Chr8:100866298 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6546A>G (p.Pro2182=) single nucleotide variant Cohen syndrome [RCV002106001] Chr8:99717262 [GRCh38]
Chr8:100729490 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1623G>C (p.Leu541=) single nucleotide variant Cohen syndrome [RCV002076050]|VPS13B-related disorder [RCV004744290] Chr8:99136724 [GRCh38]
Chr8:100148952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6186C>T (p.Asn2062=) single nucleotide variant Cohen syndrome [RCV002105421] Chr8:99699664 [GRCh38]
Chr8:100711892 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4949+10G>T single nucleotide variant Cohen syndrome [RCV002189153] Chr8:99556663 [GRCh38]
Chr8:100568891 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7953C>A (p.Ile2651=) single nucleotide variant Cohen syndrome [RCV002189229] Chr8:99809386 [GRCh38]
Chr8:100821614 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-6G>A single nucleotide variant Cohen syndrome [RCV002145648] Chr8:99192870 [GRCh38]
Chr8:100205098 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9693T>C (p.Ile3231=) single nucleotide variant Cohen syndrome [RCV002145520] Chr8:99835275 [GRCh38]
Chr8:100847503 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2014-19G>A single nucleotide variant Cohen syndrome [RCV002108833] Chr8:99156530 [GRCh38]
Chr8:100168758 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5418T>C (p.Asn1806=) single nucleotide variant Cohen syndrome [RCV002089111] Chr8:99642008 [GRCh38]
Chr8:100654236 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4359T>C (p.Ser1453=) single nucleotide variant Cohen syndrome [RCV002072430] Chr8:99511238 [GRCh38]
Chr8:100523466 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4634-18del deletion Cohen syndrome [RCV002168443] Chr8:99520881 [GRCh38]
Chr8:100533109 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.762+19dup duplication Cohen syndrome [RCV002127246] Chr8:99111290..99111291 [GRCh38]
Chr8:100123518..100123519 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.5094C>A (p.Gly1698=) single nucleotide variant Cohen syndrome [RCV002205032] Chr8:99577507 [GRCh38]
Chr8:100589735 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-13C>T single nucleotide variant Cohen syndrome [RCV002072442] Chr8:99853438 [GRCh38]
Chr8:100865666 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10764T>C (p.Pro3588=) single nucleotide variant Cohen syndrome [RCV002107880] Chr8:99854153 [GRCh38]
Chr8:100866381 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+8C>T single nucleotide variant Cohen syndrome [RCV002188431] Chr8:99854264 [GRCh38]
Chr8:100866492 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9612C>G (p.Thr3204=) single nucleotide variant Cohen syndrome [RCV002084725] Chr8:99832650 [GRCh38]
Chr8:100844878 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9444A>G (p.Ser3148=) single nucleotide variant Cohen syndrome [RCV002086816] Chr8:99832482 [GRCh38]
Chr8:100844710 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.581-18G>A single nucleotide variant Cohen syndrome [RCV002129433] Chr8:99111080 [GRCh38]
Chr8:100123308 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8994+16T>A single nucleotide variant Cohen syndrome [RCV002145804] Chr8:99820138 [GRCh38]
Chr8:100832366 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1122C>A (p.Thr374=) single nucleotide variant Cohen syndrome [RCV002207809] Chr8:99121361 [GRCh38]
Chr8:100133589 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2014-15A>G single nucleotide variant Cohen syndrome [RCV003605773]|not provided [RCV002223437] Chr8:99156534 [GRCh38]
Chr8:100168762 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5221-24871G>T single nucleotide variant Cohen syndrome [RCV002227713] Chr8:99616940 [GRCh38]
Chr8:100629168 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3446-19C>T single nucleotide variant Cohen syndrome [RCV002125953] Chr8:99467395 [GRCh38]
Chr8:100479623 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8323C>T (p.Leu2775=) single nucleotide variant Cohen syndrome [RCV002166181] Chr8:99817765 [GRCh38]
Chr8:100829993 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.420G>A (p.Val140=) single nucleotide variant Cohen syndrome [RCV002106444]|not provided [RCV003426343] Chr8:99102960 [GRCh38]
Chr8:100115188 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1843+10T>G single nucleotide variant Cohen syndrome [RCV002209604] Chr8:99143175 [GRCh38]
Chr8:100155403 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+17A>G single nucleotide variant Cohen syndrome [RCV002165955] Chr8:99870904 [GRCh38]
Chr8:100883132 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11895T>A (p.Val3965=) single nucleotide variant Cohen syndrome [RCV002108044] Chr8:99875567 [GRCh38]
Chr8:100887795 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7686G>A (p.Leu2562=) single nucleotide variant Cohen syndrome [RCV002125430] Chr8:99778938 [GRCh38]
Chr8:100791166 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9943-11T>G single nucleotide variant Cohen syndrome [RCV002166297] Chr8:99848765 [GRCh38]
Chr8:100860993 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.627A>G (p.Thr209=) single nucleotide variant Cohen syndrome [RCV002167406] Chr8:99111144 [GRCh38]
Chr8:100123372 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8792+19C>G single nucleotide variant Cohen syndrome [RCV002072835] Chr8:99819601 [GRCh38]
Chr8:100831829 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2946A>T (p.Val982=) single nucleotide variant Cohen syndrome [RCV002206661] Chr8:99391568 [GRCh38]
Chr8:100403796 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11706A>G (p.Thr3902=) single nucleotide variant Cohen syndrome [RCV002108118] Chr8:99871658 [GRCh38]
Chr8:100883886 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7179G>A (p.Lys2393=) single nucleotide variant Cohen syndrome [RCV002129906] Chr8:99766902 [GRCh38]
Chr8:100779130 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11721G>A (p.Gln3907=) single nucleotide variant Cohen syndrome [RCV002167381] Chr8:99871673 [GRCh38]
Chr8:100883901 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3738C>G (p.Leu1246=) single nucleotide variant Cohen syndrome [RCV002107105] Chr8:99481670 [GRCh38]
Chr8:100493898 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.513C>T (p.Val171=) single nucleotide variant Cohen syndrome [RCV002169062] Chr8:99103053 [GRCh38]
Chr8:100115281 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2208+20T>C single nucleotide variant Cohen syndrome [RCV002091165] Chr8:99156763 [GRCh38]
Chr8:100168991 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6483C>A (p.Leu2161=) single nucleotide variant Cohen syndrome [RCV002205673] Chr8:99717199 [GRCh38]
Chr8:100729427 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4812A>C (p.Ile1604=) single nucleotide variant Cohen syndrome [RCV002192187] Chr8:99556516 [GRCh38]
Chr8:100568744 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11601A>G (p.Ser3867=) single nucleotide variant Cohen syndrome [RCV002092050] Chr8:99871553 [GRCh38]
Chr8:100883781 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3861T>G (p.Thr1287=) single nucleotide variant Cohen syndrome [RCV002088324] Chr8:99481793 [GRCh38]
Chr8:100494021 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-11C>T single nucleotide variant Cohen syndrome [RCV002089885] Chr8:99467403 [GRCh38]
Chr8:100479631 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4157+16T>C single nucleotide variant Cohen syndrome [RCV002075624] Chr8:99502966 [GRCh38]
Chr8:100515194 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-8G>T single nucleotide variant Cohen syndrome [RCV002112097]|VPS13B-related disorder [RCV004744265] Chr8:99431529 [GRCh38]
Chr8:100443757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4779T>C (p.Pro1593=) single nucleotide variant Cohen syndrome [RCV002089924] Chr8:99556483 [GRCh38]
Chr8:100568711 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9429T>G (p.Pro3143=) single nucleotide variant Cohen syndrome [RCV002145522] Chr8:99832467 [GRCh38]
Chr8:100844695 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-18_2334-15del microsatellite Cohen syndrome [RCV002190255] Chr8:99192854..99192857 [GRCh38]
Chr8:100205082..100205085 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1116A>G (p.Ala372=) single nucleotide variant Cohen syndrome [RCV002071729] Chr8:99121355 [GRCh38]
Chr8:100133583 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+18A>G single nucleotide variant Cohen syndrome [RCV002088707] Chr8:99275272 [GRCh38]
Chr8:100287500 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7986A>G (p.Ser2662=) single nucleotide variant Cohen syndrome [RCV002166495] Chr8:99809419 [GRCh38]
Chr8:100821647 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3237T>C (p.Phe1079=) single nucleotide variant Cohen syndrome [RCV002191804] Chr8:99442427 [GRCh38]
Chr8:100454655 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.763-5T>C single nucleotide variant Cohen syndrome [RCV002130213]|VPS13B-related disorder [RCV004744301] Chr8:99115695 [GRCh38]
Chr8:100127923 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2935-12G>T single nucleotide variant Cohen syndrome [RCV002190424] Chr8:99391545 [GRCh38]
Chr8:100403773 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-7A>G single nucleotide variant Cohen syndrome [RCV002125424] Chr8:99467407 [GRCh38]
Chr8:100479635 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9240T>C (p.Ile3080=) single nucleotide variant Cohen syndrome [RCV002128207] Chr8:99823888 [GRCh38]
Chr8:100836116 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+7T>G single nucleotide variant Cohen syndrome [RCV002197401] Chr8:99511519 [GRCh38]
Chr8:100523747 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6693T>G (p.Val2231=) single nucleotide variant Cohen syndrome [RCV002174944] Chr8:99720380 [GRCh38]
Chr8:100732608 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10842T>C (p.Tyr3614=) single nucleotide variant Cohen syndrome [RCV002093908] Chr8:99854231 [GRCh38]
Chr8:100866459 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+10G>A single nucleotide variant Cohen syndrome [RCV002086150] Chr8:99274342 [GRCh38]
Chr8:100286570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4668G>A (p.Leu1556=) single nucleotide variant Cohen syndrome [RCV002124486] Chr8:99520933 [GRCh38]
Chr8:100533161 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+14C>T single nucleotide variant Cohen syndrome [RCV002110730] Chr8:99818548 [GRCh38]
Chr8:100830776 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6888C>G (p.Val2296=) single nucleotide variant Cohen syndrome [RCV002193425] Chr8:99720885 [GRCh38]
Chr8:100733113 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7938A>G (p.Pro2646=) single nucleotide variant Cohen syndrome [RCV002194986] Chr8:99784473 [GRCh38]
Chr8:100796701 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+17C>A single nucleotide variant Cohen syndrome [RCV002095745] Chr8:99274349 [GRCh38]
Chr8:100286577 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5909-8C>T single nucleotide variant Cohen syndrome [RCV002116418] Chr8:99661346 [GRCh38]
Chr8:100673574 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3210+10A>T single nucleotide variant Cohen syndrome [RCV002109133] Chr8:99431674 [GRCh38]
Chr8:100443902 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6216C>A (p.Val2072=) single nucleotide variant Cohen syndrome [RCV002209435] Chr8:99699694 [GRCh38]
Chr8:100711922 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11529C>T (p.Val3843=) single nucleotide variant Cohen syndrome [RCV002095795]|Inborn genetic diseases [RCV002352846] Chr8:99871481 [GRCh38]
Chr8:100883709 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-11G>C single nucleotide variant Cohen syndrome [RCV002192733] Chr8:99859293 [GRCh38]
Chr8:100871521 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3099A>G (p.Ser1033=) single nucleotide variant Cohen syndrome [RCV002086613] Chr8:99431553 [GRCh38]
Chr8:100443781 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2209-8T>G single nucleotide variant Cohen syndrome [RCV002167117] Chr8:99170031 [GRCh38]
Chr8:100182259 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+20A>C single nucleotide variant Cohen syndrome [RCV002170279] Chr8:99038586 [GRCh38]
Chr8:100050814 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2802T>C (p.Tyr934=) single nucleotide variant Cohen syndrome [RCV002097331] Chr8:99275232 [GRCh38]
Chr8:100287460 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6454+19del deletion Cohen syndrome [RCV002114169] Chr8:99699948 [GRCh38]
Chr8:100712176 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2733T>C (p.Asn911=) single nucleotide variant Cohen syndrome [RCV002074740] Chr8:99275163 [GRCh38]
Chr8:100287391 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11556G>A (p.Val3852=) single nucleotide variant Cohen syndrome [RCV002209649] Chr8:99871508 [GRCh38]
Chr8:100883736 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-10A>C single nucleotide variant Cohen syndrome [RCV002093559] Chr8:99699515 [GRCh38]
Chr8:100711743 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7965T>A (p.Gly2655=) single nucleotide variant Cohen syndrome [RCV002151392] Chr8:99809398 [GRCh38]
Chr8:100821626 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+13G>T single nucleotide variant Cohen syndrome [RCV002152494] Chr8:99511525 [GRCh38]
Chr8:100523753 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4560T>C (p.Pro1520=) single nucleotide variant Cohen syndrome [RCV002079698] Chr8:99511439 [GRCh38]
Chr8:100523667 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.150A>G (p.Glu50=) single nucleotide variant Cohen syndrome [RCV002213032] Chr8:99038425 [GRCh38]
Chr8:100050653 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9582C>T (p.Leu3194=) single nucleotide variant Cohen syndrome [RCV002146079] Chr8:99832620 [GRCh38]
Chr8:100844848 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7248-4A>G single nucleotide variant Cohen syndrome [RCV002091374] Chr8:99776771 [GRCh38]
Chr8:100788999 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1425+9G>T single nucleotide variant Cohen syndrome [RCV002092585] Chr8:99135146 [GRCh38]
Chr8:100147374 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.333T>C (p.Ser111=) single nucleotide variant Cohen syndrome [RCV002071124] Chr8:99096353 [GRCh38]
Chr8:100108581 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3225T>C (p.Ser1075=) single nucleotide variant Cohen syndrome [RCV002206487] Chr8:99442415 [GRCh38]
Chr8:100454643 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9183+7T>A single nucleotide variant Cohen syndrome [RCV002093294] Chr8:99821489 [GRCh38]
Chr8:100833717 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+9G>C single nucleotide variant Cohen syndrome [RCV002076233] Chr8:99661500 [GRCh38]
Chr8:100673728 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2676T>A (p.Ile892=) single nucleotide variant Cohen syndrome [RCV002125203] Chr8:99275106 [GRCh38]
Chr8:100287334 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11044+12C>T single nucleotide variant Cohen syndrome [RCV002212526] Chr8:99859492 [GRCh38]
Chr8:100871720 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.171T>C (p.Phe57=) single nucleotide variant Cohen syndrome [RCV002080717] Chr8:99038446 [GRCh38]
Chr8:100050674 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11514G>T (p.Leu3838=) single nucleotide variant Cohen syndrome [RCV002078372] Chr8:99871466 [GRCh38]
Chr8:100883694 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10470C>A (p.Ile3490=) single nucleotide variant Cohen syndrome [RCV002104752] Chr8:99853859 [GRCh38]
Chr8:100866087 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9594G>A (p.Arg3198=) single nucleotide variant Cohen syndrome [RCV002148169] Chr8:99832632 [GRCh38]
Chr8:100844860 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2013+20A>G single nucleotide variant Cohen syndrome [RCV002091763] Chr8:99148030 [GRCh38]
Chr8:100160258 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7503C>T (p.Ser2501=) single nucleotide variant Cohen syndrome [RCV002078502] Chr8:99778755 [GRCh38]
Chr8:100790983 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8610A>G (p.Thr2870=) single nucleotide variant Cohen syndrome [RCV002151356] Chr8:99818877 [GRCh38]
Chr8:100831105 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.900T>G (p.Leu300=) single nucleotide variant Cohen syndrome [RCV002172700] Chr8:99115837 [GRCh38]
Chr8:100128065 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2496T>C (p.Asn832=) single nucleotide variant Cohen syndrome [RCV002195151] Chr8:99193038 [GRCh38]
Chr8:100205266 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.969A>G (p.Gln323=) single nucleotide variant Cohen syndrome [RCV002195324]|VPS13B-related disorder [RCV004744246] Chr8:99121208 [GRCh38]
Chr8:100133436 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4821G>A (p.Gln1607=) single nucleotide variant Cohen syndrome [RCV002151618] Chr8:99556525 [GRCh38]
Chr8:100568753 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5385C>T (p.Ala1795=) single nucleotide variant Cohen syndrome [RCV002195360] Chr8:99641975 [GRCh38]
Chr8:100654203 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+8del deletion Cohen syndrome [RCV002167936] Chr8:99661497 [GRCh38]
Chr8:100673725 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3048T>C (p.Tyr1016=) single nucleotide variant Cohen syndrome [RCV002172121] Chr8:99391670 [GRCh38]
Chr8:100403898 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3667-10A>G single nucleotide variant Cohen syndrome [RCV002078829] Chr8:99481589 [GRCh38]
Chr8:100493817 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+18G>A single nucleotide variant Cohen syndrome [RCV002133575] Chr8:99766988 [GRCh38]
Chr8:100779216 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-14C>T single nucleotide variant Cohen syndrome [RCV002196463] Chr8:99577476 [GRCh38]
Chr8:100589704 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10506A>G (p.Lys3502=) single nucleotide variant Cohen syndrome [RCV002149678]|VPS13B-related disorder [RCV004744283] Chr8:99853895 [GRCh38]
Chr8:100866123 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.938-13T>C single nucleotide variant Cohen syndrome [RCV002093981] Chr8:99121164 [GRCh38]
Chr8:100133392 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2946A>G (p.Val982=) single nucleotide variant Cohen syndrome [RCV002104995] Chr8:99391568 [GRCh38]
Chr8:100403796 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11976G>A (p.Leu3992=) single nucleotide variant Cohen syndrome [RCV002077558] Chr8:99875648 [GRCh38]
Chr8:100887876 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7464C>T (p.Asp2488=) single nucleotide variant Cohen syndrome [RCV002216317] Chr8:99778716 [GRCh38]
Chr8:100790944 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11454A>G (p.Leu3818=) single nucleotide variant Cohen syndrome [RCV002171794] Chr8:99870846 [GRCh38]
Chr8:100883074 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.285G>A (p.Gly95=) single nucleotide variant Cohen syndrome [RCV002078166]|not provided [RCV002264450] Chr8:99038560 [GRCh38]
Chr8:100050788 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4647A>T (p.Ala1549=) single nucleotide variant Cohen syndrome [RCV002079072] Chr8:99520912 [GRCh38]
Chr8:100533140 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4548C>A (p.Ser1516=) single nucleotide variant Cohen syndrome [RCV002194379] Chr8:99511427 [GRCh38]
Chr8:100523655 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7917C>T (p.Ser2639=) single nucleotide variant Cohen syndrome [RCV002189125] Chr8:99784452 [GRCh38]
Chr8:100796680 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2985G>A (p.Glu995=) single nucleotide variant Cohen syndrome [RCV002115363] Chr8:99391607 [GRCh38]
Chr8:100403835 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2253A>T (p.Gly751=) single nucleotide variant Cohen syndrome [RCV002115392] Chr8:99170083 [GRCh38]
Chr8:100182311 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7167G>A (p.Val2389=) single nucleotide variant Cohen syndrome [RCV002094370] Chr8:99766890 [GRCh38]
Chr8:100779118 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6866-10T>C single nucleotide variant Cohen syndrome [RCV002153626] Chr8:99720853 [GRCh38]
Chr8:100733081 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11215+14G>C single nucleotide variant Cohen syndrome [RCV002110521] Chr8:99861960 [GRCh38]
Chr8:100874188 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6865+18C>G single nucleotide variant Cohen syndrome [RCV002115409] Chr8:99720570 [GRCh38]
Chr8:100732798 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11415T>G (p.Leu3805=) single nucleotide variant Cohen syndrome [RCV002172143] Chr8:99870807 [GRCh38]
Chr8:100883035 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7821T>C (p.Phe2607=) single nucleotide variant Cohen syndrome [RCV002135301]|VPS13B-related disorder [RCV004729094] Chr8:99784356 [GRCh38]
Chr8:100796584 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1302+12A>G single nucleotide variant Cohen syndrome [RCV002115594] Chr8:99134739 [GRCh38]
Chr8:100146967 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1602G>T (p.Gly534=) single nucleotide variant Cohen syndrome [RCV002172454] Chr8:99136703 [GRCh38]
Chr8:100148931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.288A>T (p.Ile96=) single nucleotide variant Cohen syndrome [RCV002171214] Chr8:99038563 [GRCh38]
Chr8:100050791 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1449T>C (p.Gly483=) single nucleotide variant Cohen syndrome [RCV002212549] Chr8:99135619 [GRCh38]
Chr8:100147847 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10335C>T (p.Val3445=) single nucleotide variant Cohen syndrome [RCV002174742] Chr8:99853724 [GRCh38]
Chr8:100865952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9481C>T (p.Leu3161=) single nucleotide variant Cohen syndrome [RCV002113944] Chr8:99832519 [GRCh38]
Chr8:100844747 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10419G>A (p.Lys3473=) single nucleotide variant Cohen syndrome [RCV002152238] Chr8:99853808 [GRCh38]
Chr8:100866036 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4464T>C (p.Ser1488=) single nucleotide variant Cohen syndrome [RCV002213860] Chr8:99511343 [GRCh38]
Chr8:100523571 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8997A>G (p.Glu2999=) single nucleotide variant Cohen syndrome [RCV002076566] Chr8:99821296 [GRCh38]
Chr8:100833524 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9501A>G (p.Pro3167=) single nucleotide variant Cohen syndrome [RCV002079977]|VPS13B-related disorder [RCV004744222] Chr8:99832539 [GRCh38]
Chr8:100844767 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496-10T>C single nucleotide variant Cohen syndrome [RCV002170775] Chr8:99871438 [GRCh38]
Chr8:100883666 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7245A>G (p.Gln2415=) single nucleotide variant Cohen syndrome [RCV002115234]|VPS13B-related disorder [RCV004744272] Chr8:99766968 [GRCh38]
Chr8:100779196 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4536T>C (p.His1512=) single nucleotide variant Cohen syndrome [RCV002078229] Chr8:99511415 [GRCh38]
Chr8:100523643 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=) single nucleotide variant Cohen syndrome [RCV002114612]|not provided [RCV003434438] Chr8:99853541 [GRCh38]
Chr8:100865769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4634-9T>C single nucleotide variant Cohen syndrome [RCV002151748] Chr8:99520890 [GRCh38]
Chr8:100533118 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.138G>A (p.Val46=) single nucleotide variant Cohen syndrome [RCV002113988] Chr8:99013926 [GRCh38]
Chr8:100026154 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.870C>A (p.Gly290=) single nucleotide variant Cohen syndrome [RCV002194224] Chr8:99115807 [GRCh38]
Chr8:100128035 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11841T>G (p.Ser3947=) single nucleotide variant Cohen syndrome [RCV002114645] Chr8:99875513 [GRCh38]
Chr8:100887741 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2541A>G (p.Pro847=) single nucleotide variant Cohen syndrome [RCV002133266] Chr8:99274223 [GRCh38]
Chr8:100286451 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1047C>T (p.Ala349=) single nucleotide variant Cohen syndrome [RCV002075007] Chr8:99121286 [GRCh38]
Chr8:100133514 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6652C>T (p.Leu2218=) single nucleotide variant Cohen syndrome [RCV002092869] Chr8:99717368 [GRCh38]
Chr8:100729596 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6852T>C (p.Tyr2284=) single nucleotide variant Cohen syndrome [RCV002194898] Chr8:99720539 [GRCh38]
Chr8:100732767 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7941+16C>A single nucleotide variant Cohen syndrome [RCV002095541] Chr8:99784492 [GRCh38]
Chr8:100796720 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6780T>C (p.Ser2260=) single nucleotide variant Cohen syndrome [RCV002171846] Chr8:99720467 [GRCh38]
Chr8:100732695 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10779G>A (p.Val3593=) single nucleotide variant Cohen syndrome [RCV002092929] Chr8:99854168 [GRCh38]
Chr8:100866396 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6455-4del deletion Cohen syndrome [RCV002077049] Chr8:99717159 [GRCh38]
Chr8:100729387 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3315T>C (p.His1105=) single nucleotide variant Cohen syndrome [RCV002194282] Chr8:99442505 [GRCh38]
Chr8:100454733 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7206A>G (p.Arg2402=) single nucleotide variant Cohen syndrome [RCV002079624] Chr8:99766929 [GRCh38]
Chr8:100779157 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5676T>C (p.Ser1892=) single nucleotide variant Cohen syndrome [RCV002196762] Chr8:99642266 [GRCh38]
Chr8:100654494 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2333+20A>G single nucleotide variant Cohen syndrome [RCV002215401] Chr8:99170183 [GRCh38]
Chr8:100182411 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4695C>T (p.Pro1565=) single nucleotide variant Cohen syndrome [RCV002169421] Chr8:99520960 [GRCh38]
Chr8:100533188 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.105G>T (p.Val35=) single nucleotide variant Cohen syndrome [RCV002171873] Chr8:99013893 [GRCh38]
Chr8:100026121 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1704A>T (p.Thr568=) single nucleotide variant Cohen syndrome [RCV002214871] Chr8:99143026 [GRCh38]
Chr8:100155254 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4281A>G (p.Thr1427=) single nucleotide variant Cohen syndrome [RCV002116579] Chr8:99511160 [GRCh38]
Chr8:100523388 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+19C>T single nucleotide variant Cohen syndrome [RCV002196861] Chr8:99818553 [GRCh38]
Chr8:100830781 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4065A>G (p.Leu1355=) single nucleotide variant Cohen syndrome [RCV002107119] Chr8:99502858 [GRCh38]
Chr8:100515086 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9743-18C>G single nucleotide variant Cohen syndrome [RCV002078450] Chr8:99835521 [GRCh38]
Chr8:100847749 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8994+17A>G single nucleotide variant Cohen syndrome [RCV002194711] Chr8:99820139 [GRCh38]
Chr8:100832367 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7659A>T (p.Ala2553=) single nucleotide variant Cohen syndrome [RCV002080291] Chr8:99778911 [GRCh38]
Chr8:100791139 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1207-9A>G single nucleotide variant Cohen syndrome [RCV002174375]|VPS13B-related disorder [RCV004744320] Chr8:99134623 [GRCh38]
Chr8:100146851 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7824G>C (p.Val2608=) single nucleotide variant Cohen syndrome [RCV002091879] Chr8:99784359 [GRCh38]
Chr8:100796587 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6882T>C (p.Pro2294=) single nucleotide variant Cohen syndrome [RCV002131090] Chr8:99720879 [GRCh38]
Chr8:100733107 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3030A>G (p.Ser1010=) single nucleotide variant Cohen syndrome [RCV002114211] Chr8:99391652 [GRCh38]
Chr8:100403880 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6765G>C (p.Val2255=) single nucleotide variant Cohen syndrome [RCV002133458] Chr8:99720452 [GRCh38]
Chr8:100732680 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220+14dup duplication Cohen syndrome [RCV002134665] Chr8:99577646..99577647 [GRCh38]
Chr8:100589874..100589875 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6600A>G (p.Pro2200=) single nucleotide variant Cohen syndrome [RCV002131296] Chr8:99717316 [GRCh38]
Chr8:100729544 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7941+12A>G single nucleotide variant Cohen syndrome [RCV002194750] Chr8:99784488 [GRCh38]
Chr8:100796716 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5154T>C (p.Val1718=) single nucleotide variant Cohen syndrome [RCV002108618]|VPS13B-related disorder [RCV004744300] Chr8:99577567 [GRCh38]
Chr8:100589795 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11196G>T (p.Arg3732=) single nucleotide variant Cohen syndrome [RCV002149670] Chr8:99861927 [GRCh38]
Chr8:100874155 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7429+18A>C single nucleotide variant Cohen syndrome [RCV002132634] Chr8:99776974 [GRCh38]
Chr8:100789202 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9184-10T>C single nucleotide variant Cohen syndrome [RCV002094392] Chr8:99823822 [GRCh38]
Chr8:100836050 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-9A>G single nucleotide variant Cohen syndrome [RCV002214984] Chr8:99102944 [GRCh38]
Chr8:100115172 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6454+10A>G single nucleotide variant Cohen syndrome [RCV002171213] Chr8:99699942 [GRCh38]
Chr8:100712170 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4308C>T (p.Val1436=) single nucleotide variant Cohen syndrome [RCV002127103] Chr8:99511187 [GRCh38]
Chr8:100523415 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8697C>T (p.His2899=) single nucleotide variant Cohen syndrome [RCV002150111] Chr8:99819487 [GRCh38]
Chr8:100831715 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11394T>C (p.Gly3798=) single nucleotide variant Cohen syndrome [RCV002150227] Chr8:99870786 [GRCh38]
Chr8:100883014 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6282A>G (p.Ser2094=) single nucleotide variant Cohen syndrome [RCV002194004] Chr8:99699760 [GRCh38]
Chr8:100711988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8490C>T (p.Asp2830=) single nucleotide variant Cohen syndrome [RCV002215805] Chr8:99818757 [GRCh38]
Chr8:100830985 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+9G>A single nucleotide variant Cohen syndrome [RCV002197101]|VPS13B-related disorder [RCV004744239] Chr8:99661500 [GRCh38]
Chr8:100673728 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8730A>G (p.Glu2910=) single nucleotide variant Cohen syndrome [RCV002174652] Chr8:99819520 [GRCh38]
Chr8:100831748 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2175G>A (p.Leu725=) single nucleotide variant Cohen syndrome [RCV002085432] Chr8:99156710 [GRCh38]
Chr8:100168938 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9608G>C (p.Cys3203Ser) single nucleotide variant Cohen syndrome [RCV002209015] Chr8:99832646 [GRCh38]
Chr8:100844874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5598T>C (p.Cys1866=) single nucleotide variant Cohen syndrome [RCV002190841] Chr8:99642188 [GRCh38]
Chr8:100654416 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2516-6T>C single nucleotide variant Cohen syndrome [RCV002090583] Chr8:99274192 [GRCh38]
Chr8:100286420 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.193T>C (p.Leu65=) single nucleotide variant Cohen syndrome [RCV002171120]|VPS13B-related disorder [RCV003895858] Chr8:99038468 [GRCh38]
Chr8:100050696 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1426-8del deletion Cohen syndrome [RCV002077490] Chr8:99135588 [GRCh38]
Chr8:100147816 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6915T>C (p.Thr2305=) single nucleotide variant Cohen syndrome [RCV002151529] Chr8:99720912 [GRCh38]
Chr8:100733140 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9183+16A>G single nucleotide variant Cohen syndrome [RCV002121101] Chr8:99821498 [GRCh38]
Chr8:100833726 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6171T>C (p.Thr2057=) single nucleotide variant Cohen syndrome [RCV002180634] Chr8:99699649 [GRCh38]
Chr8:100711877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8527T>C (p.Leu2843=) single nucleotide variant Cohen syndrome [RCV002097850] Chr8:99818794 [GRCh38]
Chr8:100831022 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10197C>T (p.Ala3399=) single nucleotide variant Cohen syndrome [RCV002081277] Chr8:99853586 [GRCh38]
Chr8:100865814 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-12_9331-3del deletion Cohen syndrome [RCV002123222]|VPS13B-related disorder [RCV004744304] Chr8:99832342..99832351 [GRCh38]
Chr8:100844570..100844579 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6366T>C (p.Thr2122=) single nucleotide variant Cohen syndrome [RCV002119371] Chr8:99699844 [GRCh38]
Chr8:100712072 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8625A>G (p.Glu2875=) single nucleotide variant Cohen syndrome [RCV002139057] Chr8:99819415 [GRCh38]
Chr8:100831643 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2934+25dup duplication Cohen syndrome [RCV002201753] Chr8:99384336..99384337 [GRCh38]
Chr8:100396564..100396565 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.1572C>T (p.Tyr524=) single nucleotide variant Cohen syndrome [RCV002102037] Chr8:99136673 [GRCh38]
Chr8:100148901 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2935-4C>A single nucleotide variant Cohen syndrome [RCV002159755] Chr8:99391553 [GRCh38]
Chr8:100403781 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6570A>G (p.Glu2190=) single nucleotide variant Cohen syndrome [RCV002139486] Chr8:99717286 [GRCh38]
Chr8:100729514 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+22dup duplication Cohen syndrome [RCV002141120] Chr8:99511526..99511527 [GRCh38]
Chr8:100523754..100523755 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.7551C>A (p.Val2517=) single nucleotide variant Cohen syndrome [RCV002177554] Chr8:99778803 [GRCh38]
Chr8:100791031 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9121C>T (p.Leu3041=) single nucleotide variant Cohen syndrome [RCV002083676] Chr8:99821420 [GRCh38]
Chr8:100833648 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.292-18T>C single nucleotide variant Cohen syndrome [RCV002083654] Chr8:99096294 [GRCh38]
Chr8:100108522 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+20G>A single nucleotide variant Cohen syndrome [RCV002120184] Chr8:99121465 [GRCh38]
Chr8:100133693 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7911G>A (p.Gln2637=) single nucleotide variant Cohen syndrome [RCV002160240] Chr8:99784446 [GRCh38]
Chr8:100796674 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1887G>C (p.Val629=) single nucleotide variant Cohen syndrome [RCV002177723] Chr8:99147884 [GRCh38]
Chr8:100160112 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10061+10_10061+13del deletion Cohen syndrome [RCV002156456] Chr8:99848901..99848904 [GRCh38]
Chr8:100861129..100861132 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7429+15A>T single nucleotide variant Cohen syndrome [RCV002177948] Chr8:99776971 [GRCh38]
Chr8:100789199 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9411T>G (p.Pro3137=) single nucleotide variant Cohen syndrome [RCV002179820] Chr8:99832449 [GRCh38]
Chr8:100844677 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11007C>T (p.Ser3669=) single nucleotide variant Cohen syndrome [RCV002120170] Chr8:99859443 [GRCh38]
Chr8:100871671 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.813G>C (p.Leu271=) single nucleotide variant Cohen syndrome [RCV002221071]|VPS13B-related disorder [RCV004729069] Chr8:99115750 [GRCh38]
Chr8:100127978 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+15T>C single nucleotide variant Cohen syndrome [RCV002100808] Chr8:99854271 [GRCh38]
Chr8:100866499 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5508A>T (p.Ser1836=) single nucleotide variant Cohen syndrome [RCV002204305] Chr8:99642098 [GRCh38]
Chr8:100654326 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-15T>C single nucleotide variant Cohen syndrome [RCV002120205] Chr8:99192861 [GRCh38]
Chr8:100205089 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11061C>T (p.Ile3687=) single nucleotide variant Cohen syndrome [RCV002158797] Chr8:99861792 [GRCh38]
Chr8:100874020 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6705A>G (p.Glu2235=) single nucleotide variant Cohen syndrome [RCV002082329] Chr8:99720392 [GRCh38]
Chr8:100732620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+724A>G single nucleotide variant Cohen syndrome [RCV002102991] Chr8:99507927 [GRCh38]
Chr8:100520155 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9033C>T (p.Asn3011=) single nucleotide variant Cohen syndrome [RCV002155106] Chr8:99821332 [GRCh38]
Chr8:100833560 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7284T>C (p.Asp2428=) single nucleotide variant Cohen syndrome [RCV002136558] Chr8:99776811 [GRCh38]
Chr8:100789039 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496-14C>T single nucleotide variant Cohen syndrome [RCV002082553] Chr8:99871434 [GRCh38]
Chr8:100883662 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2034T>C (p.Asn678=) single nucleotide variant Cohen syndrome [RCV002178413] Chr8:99156569 [GRCh38]
Chr8:100168797 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+18T>G single nucleotide variant Cohen syndrome [RCV002219669] Chr8:99661509 [GRCh38]
Chr8:100673737 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-17T>C single nucleotide variant Cohen syndrome [RCV002102939] Chr8:99641794 [GRCh38]
Chr8:100654022 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5010C>T (p.Val1670=) single nucleotide variant Cohen syndrome [RCV002219865] Chr8:99575718 [GRCh38]
Chr8:100587946 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8793-13G>T single nucleotide variant Cohen syndrome [RCV002157491] Chr8:99819908 [GRCh38]
Chr8:100832136 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8439A>G (p.Gln2813=) single nucleotide variant Cohen syndrome [RCV002177187] Chr8:99818528 [GRCh38]
Chr8:100830756 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496-6A>G single nucleotide variant Cohen syndrome [RCV002099881] Chr8:99871442 [GRCh38]
Chr8:100883670 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9348C>T (p.Asp3116=) single nucleotide variant Cohen syndrome [RCV002144422] Chr8:99832386 [GRCh38]
Chr8:100844614 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6516C>G (p.Leu2172=) single nucleotide variant Cohen syndrome [RCV002154052] Chr8:99717232 [GRCh38]
Chr8:100729460 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+18G>A single nucleotide variant Cohen syndrome [RCV002097968] Chr8:99835342 [GRCh38]
Chr8:100847570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4836T>C (p.Gly1612=) single nucleotide variant Cohen syndrome [RCV002218591] Chr8:99556540 [GRCh38]
Chr8:100568768 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2613G>A (p.Gly871=) single nucleotide variant Cohen syndrome [RCV002081408] Chr8:99274295 [GRCh38]
Chr8:100286523 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8049T>A (p.Thr2683=) single nucleotide variant Cohen syndrome [RCV002175484] Chr8:99809482 [GRCh38]
Chr8:100821710 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.939T>C (p.Gly313=) single nucleotide variant Cohen syndrome [RCV002083444] Chr8:99121178 [GRCh38]
Chr8:100133406 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11001C>A (p.Gly3667=) single nucleotide variant Cohen syndrome [RCV002158017] Chr8:99859437 [GRCh38]
Chr8:100871665 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3210+11A>T single nucleotide variant Cohen syndrome [RCV002139391] Chr8:99431675 [GRCh38]
Chr8:100443903 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4782A>T (p.Gly1594=) single nucleotide variant Cohen syndrome [RCV002142964] Chr8:99556486 [GRCh38]
Chr8:100568714 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2976A>G (p.Arg992=) single nucleotide variant Cohen syndrome [RCV002143066] Chr8:99391598 [GRCh38]
Chr8:100403826 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11215+13G>A single nucleotide variant Cohen syndrome [RCV002083590] Chr8:99861959 [GRCh38]
Chr8:100874187 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10653C>G (p.Ala3551=) single nucleotide variant Cohen syndrome [RCV002154238] Chr8:99854042 [GRCh38]
Chr8:100866270 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8292A>G (p.Lys2764=) single nucleotide variant Cohen syndrome [RCV002216832] Chr8:99817734 [GRCh38]
Chr8:100829962 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-10T>C single nucleotide variant Cohen syndrome [RCV002179464] Chr8:99809365 [GRCh38]
Chr8:100821593 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+7A>C single nucleotide variant Cohen syndrome [RCV002143134] Chr8:99038573 [GRCh38]
Chr8:100050801 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2301T>A (p.Leu767=) single nucleotide variant Cohen syndrome [RCV002163570] Chr8:99170131 [GRCh38]
Chr8:100182359 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9597A>G (p.Glu3199=) single nucleotide variant Cohen syndrome [RCV002098365] Chr8:99832635 [GRCh38]
Chr8:100844863 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11746-11T>C single nucleotide variant Cohen syndrome [RCV002100279] Chr8:99875407 [GRCh38]
Chr8:100887635 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.87A>G (p.Ser29=) single nucleotide variant Cohen syndrome [RCV002158278] Chr8:99013875 [GRCh38]
Chr8:100026103 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-4T>G single nucleotide variant Cohen syndrome [RCV002163650]|VPS13B-related disorder [RCV004744318] Chr8:99832365 [GRCh38]
Chr8:100844593 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10137C>T (p.His3379=) single nucleotide variant Cohen syndrome [RCV002163671] Chr8:99853526 [GRCh38]
Chr8:100865754 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4335G>A (p.Glu1445=) single nucleotide variant Cohen syndrome [RCV002198358] Chr8:99511214 [GRCh38]
Chr8:100523442 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5478T>C (p.Tyr1826=) single nucleotide variant Cohen syndrome [RCV002100392]|VPS13B-related disorder [RCV004744266] Chr8:99642068 [GRCh38]
Chr8:100654296 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9696C>T (p.Ile3232=) single nucleotide variant Cohen syndrome [RCV002100416] Chr8:99835278 [GRCh38]
Chr8:100847506 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7689T>C (p.Leu2563=) single nucleotide variant Cohen syndrome [RCV002163705] Chr8:99778941 [GRCh38]
Chr8:100791169 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6657+8G>A single nucleotide variant Cohen syndrome [RCV002217158] Chr8:99717381 [GRCh38]
Chr8:100729609 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11472A>G (p.Pro3824=) single nucleotide variant Cohen syndrome [RCV002083954] Chr8:99870864 [GRCh38]
Chr8:100883092 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+10T>G single nucleotide variant Cohen syndrome [RCV002156589] Chr8:99038576 [GRCh38]
Chr8:100050804 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+18C>T single nucleotide variant Cohen syndrome [RCV002156708] Chr8:99870905 [GRCh38]
Chr8:100883133 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.139C>T (p.Leu47=) single nucleotide variant Cohen syndrome [RCV002219332] Chr8:99013927 [GRCh38]
Chr8:100026155 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.675G>A (p.Gln225=) single nucleotide variant Cohen syndrome [RCV002179909] Chr8:99111192 [GRCh38]
Chr8:100123420 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11586C>T (p.Cys3862=) single nucleotide variant Cohen syndrome [RCV002082267] Chr8:99871538 [GRCh38]
Chr8:100883766 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2670G>A (p.Lys890=) single nucleotide variant Cohen syndrome [RCV002082288] Chr8:99275100 [GRCh38]
Chr8:100287328 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2488T>C (p.Leu830=) single nucleotide variant Cohen syndrome [RCV002217435] Chr8:99193030 [GRCh38]
Chr8:100205258 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3210+9A>C single nucleotide variant Cohen syndrome [RCV002219426] Chr8:99431673 [GRCh38]
Chr8:100443901 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+12A>G single nucleotide variant Cohen syndrome [RCV002158776] Chr8:99835336 [GRCh38]
Chr8:100847564 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11045-10G>T single nucleotide variant Cohen syndrome [RCV002183791] Chr8:99861766 [GRCh38]
Chr8:100873994 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+10_2515+11del microsatellite Cohen syndrome [RCV002200774] Chr8:99193065..99193066 [GRCh38]
Chr8:100205293..100205294 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9957T>C (p.Thr3319=) single nucleotide variant Cohen syndrome [RCV002178271] Chr8:99848790 [GRCh38]
Chr8:100861018 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11655C>G (p.Pro3885=) single nucleotide variant Cohen syndrome [RCV002204735] Chr8:99871607 [GRCh38]
Chr8:100883835 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7797A>G (p.Val2599=) single nucleotide variant Cohen syndrome [RCV002204741] Chr8:99784332 [GRCh38]
Chr8:100796560 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3072A>G (p.Lys1024=) single nucleotide variant Cohen syndrome [RCV002164244] Chr8:99391694 [GRCh38]
Chr8:100403922 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10171C>T (p.Leu3391=) single nucleotide variant Cohen syndrome [RCV002084461] Chr8:99853560 [GRCh38]
Chr8:100865788 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2825-9G>A single nucleotide variant Cohen syndrome [RCV002164541] Chr8:99384199 [GRCh38]
Chr8:100396427 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8391T>C (p.Tyr2797=) single nucleotide variant Cohen syndrome [RCV002159121]|not provided [RCV004707792] Chr8:99818480 [GRCh38]
Chr8:100830708 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11409T>A (p.Ala3803=) single nucleotide variant Cohen syndrome [RCV002161177] Chr8:99870801 [GRCh38]
Chr8:100883029 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5001T>C (p.Asp1667=) single nucleotide variant Cohen syndrome [RCV002164575] Chr8:99575709 [GRCh38]
Chr8:100587937 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5547A>G (p.Ser1849=) single nucleotide variant Cohen syndrome [RCV002103408] Chr8:99642137 [GRCh38]
Chr8:100654365 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2400T>G (p.Ala800=) single nucleotide variant Cohen syndrome [RCV002160613] Chr8:99192942 [GRCh38]
Chr8:100205170 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3612T>C (p.Val1204=) single nucleotide variant Cohen syndrome [RCV002155579] Chr8:99467580 [GRCh38]
Chr8:100479808 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9057T>C (p.Ile3019=) single nucleotide variant Cohen syndrome [RCV002119258]|VPS13B-related disorder [RCV004744306] Chr8:99821356 [GRCh38]
Chr8:100833584 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7740A>C (p.Val2580=) single nucleotide variant Cohen syndrome [RCV002199518] Chr8:99778992 [GRCh38]
Chr8:100791220 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4260G>A (p.Gln1420=) single nucleotide variant Cohen syndrome [RCV002135456] Chr8:99511139 [GRCh38]
Chr8:100523367 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+17C>T single nucleotide variant Cohen syndrome [RCV002121254] Chr8:99274349 [GRCh38]
Chr8:100286577 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1953A>G (p.Thr651=) single nucleotide variant Cohen syndrome [RCV002201487] Chr8:99147950 [GRCh38]
Chr8:100160178 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7665C>T (p.Ser2555=) single nucleotide variant Cohen syndrome [RCV002182308] Chr8:99778917 [GRCh38]
Chr8:100791145 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4518T>C (p.Gly1506=) single nucleotide variant Cohen syndrome [RCV002184283] Chr8:99511397 [GRCh38]
Chr8:100523625 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9048A>G (p.Ser3016=) single nucleotide variant Cohen syndrome [RCV002081333] Chr8:99821347 [GRCh38]
Chr8:100833575 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-4C>T single nucleotide variant Cohen syndrome [RCV002083295] Chr8:99853447 [GRCh38]
Chr8:100865675 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8337C>A (p.Ala2779=) single nucleotide variant Cohen syndrome [RCV002178995] Chr8:99817779 [GRCh38]
Chr8:100830007 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4791C>T (p.Ile1597=) single nucleotide variant Cohen syndrome [RCV002220359]|VPS13B-related disorder [RCV004744249] Chr8:99556495 [GRCh38]
Chr8:100568723 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9330+17G>A single nucleotide variant Cohen syndrome [RCV002103312] Chr8:99823995 [GRCh38]
Chr8:100836223 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2208+10G>A single nucleotide variant Cohen syndrome [RCV002180568] Chr8:99156753 [GRCh38]
Chr8:100168981 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5670C>A (p.Val1890=) single nucleotide variant Cohen syndrome [RCV002156176] Chr8:99642260 [GRCh38]
Chr8:100654488 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9345A>G (p.Pro3115=) single nucleotide variant Cohen syndrome [RCV002157840] Chr8:99832383 [GRCh38]
Chr8:100844611 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+17T>C single nucleotide variant Cohen syndrome [RCV002102007] Chr8:99511529 [GRCh38]
Chr8:100523757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1564-15T>C single nucleotide variant Cohen syndrome [RCV002119651] Chr8:99136650 [GRCh38]
Chr8:100148878 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1041A>T (p.Ser347=) single nucleotide variant Cohen syndrome [RCV002182572] Chr8:99121280 [GRCh38]
Chr8:100133508 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=) single nucleotide variant Cohen syndrome [RCV002098125]|VPS13B-related disorder [RCV003978629]|not provided [RCV004706331] Chr8:99135697 [GRCh38]
Chr8:100147925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.927A>C (p.Gly309=) single nucleotide variant Cohen syndrome [RCV002098126]|VPS13B-related disorder [RCV003893273] Chr8:99115864 [GRCh38]
Chr8:100128092 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11070C>G (p.Leu3690=) single nucleotide variant Cohen syndrome [RCV002103641] Chr8:99861801 [GRCh38]
Chr8:100874029 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2516-5A>G single nucleotide variant Cohen syndrome [RCV002184633] Chr8:99274193 [GRCh38]
Chr8:100286421 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=) single nucleotide variant Cohen syndrome [RCV002184687]|VPS13B-related disorder [RCV004744238] Chr8:99502906 [GRCh38]
Chr8:100515134 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11398T>C (p.Leu3800=) single nucleotide variant Cohen syndrome [RCV002179444] Chr8:99870790 [GRCh38]
Chr8:100883018 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-15C>T single nucleotide variant Cohen syndrome [RCV002102358] Chr8:99135000 [GRCh38]
Chr8:100147228 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4968A>G (p.Glu1656=) single nucleotide variant Cohen syndrome [RCV002158353] Chr8:99575676 [GRCh38]
Chr8:100587904 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4305T>C (p.Asn1435=) single nucleotide variant Cohen syndrome [RCV002181013] Chr8:99511184 [GRCh38]
Chr8:100523412 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9421T>C (p.Leu3141=) single nucleotide variant Cohen syndrome [RCV002154561]|VPS13B-related disorder [RCV003933631] Chr8:99832459 [GRCh38]
Chr8:100844687 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3843A>G (p.Pro1281=) single nucleotide variant Cohen syndrome [RCV002200272] Chr8:99481775 [GRCh38]
Chr8:100494003 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1207-5del deletion Cohen syndrome [RCV002201981] Chr8:99134627 [GRCh38]
Chr8:100146855 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4164G>A (p.Gly1388=) single nucleotide variant Cohen syndrome [RCV002139619] Chr8:99507776 [GRCh38]
Chr8:100520004 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4278G>A (p.Leu1426=) single nucleotide variant Cohen syndrome [RCV002123224] Chr8:99511157 [GRCh38]
Chr8:100523385 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8621+18C>T single nucleotide variant Cohen syndrome [RCV002123445] Chr8:99818906 [GRCh38]
Chr8:100831134 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4389T>C (p.Phe1463=) single nucleotide variant Cohen syndrome [RCV002084007] Chr8:99511268 [GRCh38]
Chr8:100523496 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10908A>G (p.Ala3636=) single nucleotide variant Cohen syndrome [RCV002098737] Chr8:99859344 [GRCh38]
Chr8:100871572 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10458A>G (p.Glu3486=) single nucleotide variant Cohen syndrome [RCV002200571] Chr8:99853847 [GRCh38]
Chr8:100866075 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-7A>G single nucleotide variant Cohen syndrome [RCV002154725] Chr8:99501680 [GRCh38]
Chr8:100513908 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4293T>G (p.Ala1431=) single nucleotide variant Cohen syndrome [RCV002098789] Chr8:99511172 [GRCh38]
Chr8:100523400 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5025A>G (p.Ala1675=) single nucleotide variant Cohen syndrome [RCV002200602] Chr8:99575733 [GRCh38]
Chr8:100587961 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8604C>T (p.His2868=) single nucleotide variant Cohen syndrome [RCV002217412] Chr8:99818871 [GRCh38]
Chr8:100831099 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2730C>T (p.Leu910=) single nucleotide variant Cohen syndrome [RCV002203794] Chr8:99275160 [GRCh38]
Chr8:100287388 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2265A>G (p.Leu755=) single nucleotide variant Cohen syndrome [RCV002161968] Chr8:99170095 [GRCh38]
Chr8:100182323 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+20C>T single nucleotide variant Cohen syndrome [RCV002217537] Chr8:99835758 [GRCh38]
Chr8:100847986 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6558T>G (p.Thr2186=) single nucleotide variant Cohen syndrome [RCV002217557] Chr8:99717274 [GRCh38]
Chr8:100729502 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11337G>C (p.Gly3779=) single nucleotide variant Cohen syndrome [RCV002179888] Chr8:99868410 [GRCh38]
Chr8:100880638 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-8T>C single nucleotide variant Cohen syndrome [RCV002200749] Chr8:99467406 [GRCh38]
Chr8:100479634 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11589G>A (p.Leu3863=) single nucleotide variant Cohen syndrome [RCV002160117] Chr8:99871541 [GRCh38]
Chr8:100883769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+10C>T single nucleotide variant Cohen syndrome [RCV002162054] Chr8:99854266 [GRCh38]
Chr8:100866494 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+8A>C single nucleotide variant Cohen syndrome [RCV002136503] Chr8:99766978 [GRCh38]
Chr8:100779206 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7780-18G>A single nucleotide variant Cohen syndrome [RCV002122217]|VPS13B-related disorder [RCV003893306] Chr8:99784297 [GRCh38]
Chr8:100796525 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1992A>C (p.Leu664=) single nucleotide variant Cohen syndrome [RCV002155228] Chr8:99147989 [GRCh38]
Chr8:100160217 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7780-9T>C single nucleotide variant Cohen syndrome [RCV002155294] Chr8:99784306 [GRCh38]
Chr8:100796534 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-13T>C single nucleotide variant Cohen syndrome [RCV002118906] Chr8:99192863 [GRCh38]
Chr8:100205091 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.762+5_762+6dup duplication Cohen syndrome [RCV002118963] Chr8:99111283..99111284 [GRCh38]
Chr8:100123511..100123512 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3891T>A (p.Gly1297=) single nucleotide variant Cohen syndrome [RCV002201301] Chr8:99501707 [GRCh38]
Chr8:100513935 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4545A>T (p.Thr1515=) single nucleotide variant Cohen syndrome [RCV002137203] Chr8:99511424 [GRCh38]
Chr8:100523652 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-18_8446-14del deletion Cohen syndrome [RCV002117691] Chr8:99818693..99818697 [GRCh38]
Chr8:100830921..100830925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8667C>T (p.Ser2889=) single nucleotide variant Cohen syndrome [RCV002103353] Chr8:99819457 [GRCh38]
Chr8:100831685 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8361+18A>G single nucleotide variant Cohen syndrome [RCV002135690]|VPS13B-related disorder [RCV004744314] Chr8:99817821 [GRCh38]
Chr8:100830049 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6657+14G>A single nucleotide variant Cohen syndrome [RCV002103424] Chr8:99717387 [GRCh38]
Chr8:100729615 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11709G>A (p.Val3903=) single nucleotide variant Cohen syndrome [RCV002183157] Chr8:99871661 [GRCh38]
Chr8:100883889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5909-14T>C single nucleotide variant Cohen syndrome [RCV002117611] Chr8:99661340 [GRCh38]
Chr8:100673568 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9765T>C (p.Tyr3255=) single nucleotide variant Cohen syndrome [RCV002203494] Chr8:99835561 [GRCh38]
Chr8:100847789 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3870+20C>T single nucleotide variant Cohen syndrome [RCV002119879] Chr8:99481822 [GRCh38]
Chr8:100494050 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4101A>T (p.Val1367=) single nucleotide variant Cohen syndrome [RCV002179470] Chr8:99502894 [GRCh38]
Chr8:100515122 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6456C>G (p.Gly2152=) single nucleotide variant Cohen syndrome [RCV002143273]|VPS13B-related disorder [RCV004744313] Chr8:99717172 [GRCh38]
Chr8:100729400 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.777G>C (p.Val259=) single nucleotide variant Cohen syndrome [RCV002154151] Chr8:99115714 [GRCh38]
Chr8:100127942 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-19T>A single nucleotide variant Cohen syndrome [RCV002137561] Chr8:99809356 [GRCh38]
Chr8:100821584 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10917G>A (p.Val3639=) single nucleotide variant Cohen syndrome [RCV002220808] Chr8:99859353 [GRCh38]
Chr8:100871581 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11169C>G (p.Gly3723=) single nucleotide variant Cohen syndrome [RCV002081870] Chr8:99861900 [GRCh38]
Chr8:100874128 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2499A>G (p.Glu833=) single nucleotide variant Cohen syndrome [RCV002100455] Chr8:99193041 [GRCh38]
Chr8:100205269 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1831A>C (p.Arg611=) single nucleotide variant Cohen syndrome [RCV002177851] Chr8:99143153 [GRCh38]
Chr8:100155381 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8310A>G (p.Ser2770=) single nucleotide variant Cohen syndrome [RCV002179587] Chr8:99817752 [GRCh38]
Chr8:100829980 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11392+8G>T single nucleotide variant Cohen syndrome [RCV002181425] Chr8:99868473 [GRCh38]
Chr8:100880701 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7677G>A (p.Val2559=) single nucleotide variant Cohen syndrome [RCV002120193] Chr8:99778929 [GRCh38]
Chr8:100791157 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1260T>G (p.Ser420=) single nucleotide variant Cohen syndrome [RCV002102585] Chr8:99134685 [GRCh38]
Chr8:100146913 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2014-20C>T single nucleotide variant Cohen syndrome [RCV002141221] Chr8:99156529 [GRCh38]
Chr8:100168757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4042+15T>C single nucleotide variant Cohen syndrome [RCV002143707] Chr8:99501873 [GRCh38]
Chr8:100514101 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6103C>T (p.Leu2035=) single nucleotide variant Cohen syndrome [RCV002100588] Chr8:99699581 [GRCh38]
Chr8:100711809 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5385C>G (p.Ala1795=) single nucleotide variant Cohen syndrome [RCV002156667] Chr8:99641975 [GRCh38]
Chr8:100654203 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-20T>G single nucleotide variant Cohen syndrome [RCV002160023] Chr8:99859284 [GRCh38]
Chr8:100871512 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2058G>T (p.Arg686=) single nucleotide variant Cohen syndrome [RCV002139891] Chr8:99156593 [GRCh38]
Chr8:100168821 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1098T>C (p.Phe366=) single nucleotide variant Cohen syndrome [RCV002098978]|VPS13B-related disorder [RCV004729090] Chr8:99121337 [GRCh38]
Chr8:100133565 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_152564.5(VPS13B):c.11637A>G (p.Thr3879=) single nucleotide variant Cohen syndrome [RCV002141822] Chr8:99871589 [GRCh38]
Chr8:100883817 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1236T>C (p.Tyr412=) single nucleotide variant Cohen syndrome [RCV002184074] Chr8:99134661 [GRCh38]
Chr8:100146889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8928A>G (p.Leu2976=) single nucleotide variant Cohen syndrome [RCV002162745] Chr8:99820056 [GRCh38]
Chr8:100832284 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4236C>T (p.Thr1412=) single nucleotide variant Cohen syndrome [RCV002198873] Chr8:99507848 [GRCh38]
Chr8:100520076 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10873G>T (p.Val3625Leu) single nucleotide variant Cohen syndrome [RCV002204543] Chr8:99859309 [GRCh38]
Chr8:100871537 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3660T>C (p.Asn1220=) single nucleotide variant Cohen syndrome [RCV002160439] Chr8:99467628 [GRCh38]
Chr8:100479856 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-4A>G single nucleotide variant Cohen syndrome [RCV002184249] Chr8:99641807 [GRCh38]
Chr8:100654035 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-11G>A single nucleotide variant Cohen syndrome [RCV002144232] Chr8:99859293 [GRCh38]
Chr8:100871521 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-5del deletion Cohen syndrome [RCV002138466] Chr8:99818704 [GRCh38]
Chr8:100830932 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11004C>T (p.Val3668=) single nucleotide variant Cohen syndrome [RCV002178395] Chr8:99859440 [GRCh38]
Chr8:100871668 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4225-10T>C single nucleotide variant Cohen syndrome [RCV002144283] Chr8:99511094 [GRCh38]
Chr8:100523322 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3300A>T (p.Val1100=) single nucleotide variant Cohen syndrome [RCV002121062] Chr8:99442490 [GRCh38]
Chr8:100454718 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=) single nucleotide variant Cohen syndrome [RCV002220209] Chr8:99502933 [GRCh38]
Chr8:100515161 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2536C>T (p.Leu846=) single nucleotide variant Cohen syndrome [RCV002103028]|VPS13B-related disorder [RCV004744267] Chr8:99274218 [GRCh38]
Chr8:100286446 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9780C>T (p.Pro3260=) single nucleotide variant Cohen syndrome [RCV002159306] Chr8:99835576 [GRCh38]
Chr8:100847804 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7671T>C (p.Asp2557=) single nucleotide variant Cohen syndrome [RCV002199628] Chr8:99778923 [GRCh38]
Chr8:100791151 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2784A>C (p.Thr928=) single nucleotide variant Cohen syndrome [RCV002199631] Chr8:99275214 [GRCh38]
Chr8:100287442 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5850G>A (p.Val1950=) single nucleotide variant Cohen syndrome [RCV002182708]|VPS13B-related disorder [RCV004729063] Chr8:99642440 [GRCh38]
Chr8:100654668 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8361+13G>A single nucleotide variant Cohen syndrome [RCV002184753]|VPS13B-related disorder [RCV003913554] Chr8:99817816 [GRCh38]
Chr8:100830044 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8827C>A (p.Arg2943=) single nucleotide variant Cohen syndrome [RCV002163395] Chr8:99819955 [GRCh38]
Chr8:100832183 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6870T>C (p.Ser2290=) single nucleotide variant Cohen syndrome [RCV002184803] Chr8:99720867 [GRCh38]
Chr8:100733095 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10247A>G (p.Glu3416Gly) single nucleotide variant Cohen syndrome [RCV003110421]|VPS13B-related disorder [RCV004741551] Chr8:99853636 [GRCh38]
Chr8:100865864 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.938-9A>G single nucleotide variant Cohen syndrome [RCV003110647] Chr8:99121168 [GRCh38]
Chr8:100133396 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10765C>G (p.Leu3589Val) single nucleotide variant Cohen syndrome [RCV003114702] Chr8:99854154 [GRCh38]
Chr8:100866382 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10208G>A (p.Gly3403Asp) single nucleotide variant Cohen syndrome [RCV003111974] Chr8:99853597 [GRCh38]
Chr8:100865825 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5064T>A (p.Asn1688Lys) single nucleotide variant Cohen syndrome [RCV003114833] Chr8:99575772 [GRCh38]
Chr8:100588000 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4508A>G (p.Lys1503Arg) single nucleotide variant Cohen syndrome [RCV003114887] Chr8:99511387 [GRCh38]
Chr8:100523615 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5024C>T (p.Ala1675Val) single nucleotide variant Cohen syndrome [RCV003117143] Chr8:99575732 [GRCh38]
Chr8:100587960 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu) single nucleotide variant Cohen syndrome [RCV003112786]|VPS13B-related disorder [RCV004741557] Chr8:99481705 [GRCh38]
Chr8:100493933 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.229G>A (p.Glu77Lys) single nucleotide variant Cohen syndrome [RCV003117218] Chr8:99038504 [GRCh38]
Chr8:100050732 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=) single nucleotide variant Cohen syndrome [RCV003115629]|not provided [RCV003427688] Chr8:99859362 [GRCh38]
Chr8:100871590 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11538C>T (p.Ala3846=) single nucleotide variant Cohen syndrome [RCV003116240] Chr8:99871490 [GRCh38]
Chr8:100883718 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=) single nucleotide variant Cohen syndrome [RCV003118523]|VPS13B-related disorder [RCV003954048] Chr8:99859419 [GRCh38]
Chr8:100871647 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_98358247)_(106815766_?)dup duplication not provided [RCV003122777] Chr8:98358247..106815766 [GRCh37]
Chr8:8q22.1-23.1		 uncertain significance
NC_000008.10:g.(?_100160049)_(100160258_?)del deletion Cohen syndrome [RCV003119809] Chr8:100160049..100160258 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100168757)_(100168991_?)del deletion Cohen syndrome [RCV003119810] Chr8:100168757..100168991 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100396416)_(100396565_?)del deletion Cohen syndrome [RCV003119811] Chr8:100396416..100396565 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100513905)_(100514096_?)del deletion Cohen syndrome [RCV003119812] Chr8:100513905..100514096 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100711743)_(100712170_?)del deletion Cohen syndrome [RCV003119813] Chr8:100711743..100712170 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100883666)_(100883935_?)del deletion Cohen syndrome [RCV003119814] Chr8:100883666..100883935 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100025484)_(100026173_?)del deletion Cohen syndrome [RCV003119815] Chr8:100025484..100026173 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100155192)_(100287492_?)del deletion Cohen syndrome [RCV003119816] Chr8:100155192..100287492 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100160049)_(100168991_?)del deletion Cohen syndrome [RCV003119817] Chr8:100160049..100168991 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100205094)_(100733285_?)del deletion Cohen syndrome [RCV003119818] Chr8:100205094..100733285 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100286406)_(100494050_?)del deletion Cohen syndrome [RCV003119819] Chr8:100286406..100494050 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100286406)_(100520159_?)del deletion Cohen syndrome [RCV003119820] Chr8:100286406..100520159 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100286406)_(100523760_?)del deletion Cohen syndrome [RCV003119821] Chr8:100286406..100523760 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100286416)_(100673729_?)del deletion Cohen syndrome [RCV003119822] Chr8:100286416..100673729 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100286416)_(100821768_?)del deletion Cohen syndrome [RCV003119823] Chr8:100286416..100821768 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100396426)_(100454873_?)del deletion Cohen syndrome [RCV003119824] Chr8:100396426..100454873 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100396426)_(100589871_?)del deletion Cohen syndrome [RCV003119825] Chr8:100396426..100589871 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100443745)_(100454883_?)del deletion Cohen syndrome [RCV003119826] Chr8:100443745..100454883 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100454619)_(100673729_?)del deletion Cohen syndrome [RCV003119828] Chr8:100454619..100673729 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100479622)_(100589881_?)del deletion Cohen syndrome [RCV003119829] Chr8:100479622..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100493807)_(100729621_?)del deletion Cohen syndrome [RCV003119830] Chr8:100493807..100729621 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100050631)_(100115368_?)del deletion Cohen syndrome [RCV003119831] Chr8:100050631..100115368 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100533107)_(100588032_?)del deletion Cohen syndrome [RCV003119832] Chr8:100533107..100588032 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100533107)_(100733295_?)del deletion Cohen syndrome [RCV003119833] Chr8:100533107..100733295 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100711733)_(100796724_?)del deletion Cohen syndrome [RCV003119834] Chr8:100711733..100796724 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100108530)_(100494040_?)del deletion Cohen syndrome [RCV003119835] Chr8:100108530..100494040 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100108530)_(100128112_?)del deletion Cohen syndrome [RCV003119836] Chr8:100108530..100128112 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100830669)_(100833720_?)del deletion Cohen syndrome [RCV003119837] Chr8:100830669..100833720 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100860984)_(100866504_?)del deletion Cohen syndrome [RCV003119838] Chr8:100860984..100866504 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100123306)_(100403952_?)del deletion Cohen syndrome [RCV003119839] Chr8:100123306..100403952 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100146850)_(100533248_?)del deletion Cohen syndrome [RCV003119840] Chr8:100146850..100533248 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100654029)_(100654736_?)dup duplication Cohen syndrome [RCV003119841] Chr8:100654029..100654736 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100205094)_(100287492_?)dup duplication Cohen syndrome [RCV003119842] Chr8:100205094..100287492 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100026017)_(100287502_?)dup duplication Cohen syndrome [RCV003119843] Chr8:100026017..100287502 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100050631)_(100396565_?)dup duplication Cohen syndrome [RCV003119844] Chr8:100050631..100396565 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100568668)_(100673729_?)dup duplication Cohen syndrome [RCV003119845] Chr8:100568668..100673729 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100108520)_(100205305_?)dup duplication Cohen syndrome [RCV003119846] Chr8:100108520..100205305 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9261C>T (p.Ile3087=) single nucleotide variant Cohen syndrome [RCV003118719] Chr8:99823909 [GRCh38]
Chr8:100836137 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.10:g.(?_100157931)_(100160219_?)del deletion Cohen syndrome [RCV003119847] Chr8:100157931..100160219 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100396416)_(100443912_?)del deletion Cohen syndrome [RCV003119849] Chr8:100396416..100443912 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100821583)_(100821778_?)del deletion Cohen syndrome [RCV003119848] Chr8:100821583..100821778 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100654029)_(100673729_?)del deletion Cohen syndrome [RCV003119850] Chr8:100654029..100673729 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100108530)_(100155403_?)dup duplication Cohen syndrome [RCV003119851] Chr8:100108530..100155403 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.332G>T (p.Ser111Ile) single nucleotide variant Cohen syndrome [RCV003119445] Chr8:99096352 [GRCh38]
Chr8:100108580 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del deletion Cohen syndrome [RCV003123505] Chr8:100160068..100396546 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(100287483_100396435)_(100403933_100443764)dup duplication not specified [RCV003123506] Chr8:100396435..100403933 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9330+12A>G single nucleotide variant Cohen syndrome [RCV003118995] Chr8:99823990 [GRCh38]
Chr8:100836218 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4632A>C (p.Glu1544Asp) single nucleotide variant Cohen syndrome [RCV003121096] Chr8:99511511 [GRCh38]
Chr8:100523739 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11265A>G (p.Thr3755=) single nucleotide variant Cohen syndrome [RCV003121714] Chr8:99868338 [GRCh38]
Chr8:100880566 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2013+4T>C single nucleotide variant Cohen syndrome [RCV003105073] Chr8:99148014 [GRCh38]
Chr8:100160242 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9797A>G (p.His3266Arg) single nucleotide variant not specified [RCV002248934] Chr8:99835593 [GRCh38]
Chr8:100847821 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7377G>C (p.Gln2459His) single nucleotide variant VPS13B-related disorder [RCV003946470]|not provided [RCV003234255] Chr8:99776904 [GRCh38]
Chr8:100789132 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter) single nucleotide variant Cohen syndrome [RCV002271984] Chr8:99121282 [GRCh38]
Chr8:100133510 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter) single nucleotide variant Cohen syndrome [RCV002277755] Chr8:99819556 [GRCh38]
Chr8:100831784 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val) single nucleotide variant Cohen syndrome [RCV003096201]|not provided [RCV002275433] Chr8:99431567 [GRCh38]
Chr8:100443795 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10061+94T>C single nucleotide variant not provided [RCV002285743] Chr8:99848988 [GRCh38]
Chr8:100861216 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7446_7453dup (p.Phe2485fs) duplication not provided [RCV002276187] Chr8:99778696..99778697 [GRCh38]
Chr8:100790924..100790925 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.763-2118G>T single nucleotide variant Cohen syndrome [RCV002286512] Chr8:99113582 [GRCh38]
Chr8:100125810 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_152564.5(VPS13B):c.5167_5168delinsTC (p.Gln1723Ser) indel Cohen syndrome [RCV005061136]|not specified [RCV003236263] Chr8:99577580..99577581 [GRCh38]
Chr8:100589808..100589809 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4042+117_4042+120del deletion not provided [RCV002281285] Chr8:99501975..99501978 [GRCh38]
Chr8:100514203..100514206 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8999C>G (p.Ala3000Gly) single nucleotide variant Cohen syndrome [RCV002297024] Chr8:99821298 [GRCh38]
Chr8:100833526 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9127G>A (p.Glu3043Lys) single nucleotide variant not specified [RCV002266497] Chr8:99821426 [GRCh38]
Chr8:100833654 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100539842-100759027)x1 copy number loss See cases [RCV002292212] Chr8:100539842..100759027 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6825_6827del (p.Asp2276del) deletion not provided [RCV003230163] Chr8:99720510..99720512 [GRCh38]
Chr8:100732738..100732740 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs) duplication Cohen syndrome [RCV002286511] Chr8:99817646..99817647 [GRCh38]
Chr8:100829874..100829875 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.-2A>G single nucleotide variant Inborn genetic diseases [RCV002435614] Chr8:99013787 [GRCh38]
Chr8:100026015 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7051-3dup duplication Cohen syndrome [RCV003098477]|Inborn genetic diseases [RCV002367446]|VPS13B-related disorder [RCV004744354] Chr8:99766770..99766771 [GRCh38]
Chr8:100778998..100778999 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9521G>T (p.Cys3174Phe) single nucleotide variant Inborn genetic diseases [RCV002385262] Chr8:99832559 [GRCh38]
Chr8:100844787 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4042+124_4042+125insTTCC insertion not provided [RCV002281293] Chr8:99501982..99501983 [GRCh38]
Chr8:100514210..100514211 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11463C>G (p.Asp3821Glu) single nucleotide variant Inborn genetic diseases [RCV002349300] Chr8:99870855 [GRCh38]
Chr8:100883083 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11857T>G (p.Cys3953Gly) single nucleotide variant Cohen syndrome [RCV002297669] Chr8:99875529 [GRCh38]
Chr8:100887757 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+3A>G single nucleotide variant not specified [RCV002266496] Chr8:99556656 [GRCh38]
Chr8:100568884 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9503G>T (p.Gly3168Val) single nucleotide variant Inborn genetic diseases [RCV002385217] Chr8:99832541 [GRCh38]
Chr8:100844769 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8050G>T (p.Ala2684Ser) single nucleotide variant Inborn genetic diseases [RCV002421306] Chr8:99809483 [GRCh38]
Chr8:100821711 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val) single nucleotide variant Cohen syndrome [RCV003097759]|VPS13B-related disorder [RCV004744340]|not provided [RCV002288219] Chr8:99136747 [GRCh38]
Chr8:100148975 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3137G>T (p.Cys1046Phe) single nucleotide variant Inborn genetic diseases [RCV003285851] Chr8:99431591 [GRCh38]
Chr8:100443819 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99975705-100209173)x3 copy number gain not provided [RCV002474899] Chr8:99975705..100209173 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=) single nucleotide variant Cohen syndrome [RCV003605856]|not provided [RCV002474480] Chr8:99871697 [GRCh38]
Chr8:100883925 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2963dup (p.Met988fs) duplication Cohen syndrome [RCV002991346] Chr8:99391584..99391585 [GRCh38]
Chr8:100403812..100403813 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1005A>G (p.Ser335=) single nucleotide variant Cohen syndrome [RCV002726832] Chr8:99121244 [GRCh38]
Chr8:100133472 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln) single nucleotide variant Cohen syndrome [RCV002468528] Chr8:99817696 [GRCh38]
Chr8:100829924 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5220+20875C>A single nucleotide variant Cohen syndrome [RCV002468498] Chr8:99598508 [GRCh38]
Chr8:100610736 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.-30+5G>A single nucleotide variant Cohen syndrome [RCV002468480] Chr8:99013352 [GRCh38]
Chr8:100025580 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr) single nucleotide variant Cohen syndrome [RCV003605855]|VPS13B-related disorder [RCV004744367]|not provided [RCV002467275] Chr8:99699545 [GRCh38]
Chr8:100711773 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9630A>G (p.Thr3210=) single nucleotide variant Cohen syndrome [RCV002991530] Chr8:99835212 [GRCh38]
Chr8:100847440 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_152564.5(VPS13B):c.5220+3_5220+5del deletion Cohen syndrome [RCV003011920] Chr8:99577636..99577638 [GRCh38]
Chr8:100589864..100589866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4111G>C (p.Val1371Leu) single nucleotide variant Inborn genetic diseases [RCV002323424] Chr8:99502904 [GRCh38]
Chr8:100515132 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9361A>G (p.Ser3121Gly) single nucleotide variant Inborn genetic diseases [RCV002374006] Chr8:99832399 [GRCh38]
Chr8:100844627 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4259A>G (p.Gln1420Arg) single nucleotide variant Cohen syndrome [RCV002296080] Chr8:99511138 [GRCh38]
Chr8:100523366 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter) single nucleotide variant Cohen syndrome [RCV002306601] Chr8:99832432 [GRCh38]
Chr8:100844660 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter) single nucleotide variant Cohen syndrome [RCV002306784] Chr8:99391602 [GRCh38]
Chr8:100403830 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter) single nucleotide variant Cohen syndrome [RCV002306787] Chr8:99776844 [GRCh38]
Chr8:100789072 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter) single nucleotide variant Cohen syndrome [RCV002306796] Chr8:99556571 [GRCh38]
Chr8:100568799 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.102C>G (p.Asp34Glu) single nucleotide variant Cohen syndrome [RCV002304377] Chr8:99013890 [GRCh38]
Chr8:100026118 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10815G>T (p.Gln3605His) single nucleotide variant Cohen syndrome [RCV002304383] Chr8:99854204 [GRCh38]
Chr8:100866432 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4730G>T (p.Arg1577Met) single nucleotide variant Cohen syndrome [RCV002304407] Chr8:99520995 [GRCh38]
Chr8:100533223 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5968C>G (p.Pro1990Ala) single nucleotide variant Inborn genetic diseases [RCV002358234] Chr8:99661413 [GRCh38]
Chr8:100673641 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe) single nucleotide variant Cohen syndrome [RCV003098522]|Inborn genetic diseases [RCV002382523] Chr8:99111242 [GRCh38]
Chr8:100123470 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter) single nucleotide variant Cohen syndrome [RCV002308009] Chr8:99853671 [GRCh38]
Chr8:100865899 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter) single nucleotide variant Cohen syndrome [RCV002308016] Chr8:99717268 [GRCh38]
Chr8:100729496 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10720A>C (p.Ile3574Leu) single nucleotide variant Inborn genetic diseases [RCV002423898] Chr8:99854109 [GRCh38]
Chr8:100866337 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter) single nucleotide variant Cohen syndrome [RCV002308416] Chr8:99170051 [GRCh38]
Chr8:100182279 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5670C>G (p.Val1890=) single nucleotide variant Cohen syndrome [RCV003605808]|Inborn genetic diseases [RCV002347805] Chr8:99642260 [GRCh38]
Chr8:100654488 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val) single nucleotide variant Cohen syndrome [RCV002305201] Chr8:99868303 [GRCh38]
Chr8:100880531 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met) single nucleotide variant Cohen syndrome [RCV003099169]|Inborn genetic diseases [RCV002319803]|VPS13B-related disorder [RCV003403787]|not provided [RCV004779288] Chr8:99391696 [GRCh38]
Chr8:100403924 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly) single nucleotide variant Cohen syndrome [RCV003098665]|Inborn genetic diseases [RCV002432445]|VPS13B-related disorder [RCV003408276] Chr8:99121321 [GRCh38]
Chr8:100133549 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter) single nucleotide variant Cohen syndrome [RCV002309110] Chr8:99431608 [GRCh38]
Chr8:100443836 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.351del (p.Lys117fs) deletion Inborn genetic diseases [RCV002459302] Chr8:99096368 [GRCh38]
Chr8:100108596 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter) single nucleotide variant Cohen syndrome [RCV002309339] Chr8:99854050 [GRCh38]
Chr8:100866278 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter) single nucleotide variant Cohen syndrome [RCV002309717] Chr8:99134700 [GRCh38]
Chr8:100146928 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter) single nucleotide variant Cohen syndrome [RCV002308376] Chr8:99442499 [GRCh38]
Chr8:100454727 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter) single nucleotide variant Cohen syndrome [RCV002310346] Chr8:99511435 [GRCh38]
Chr8:100523663 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11360G>A (p.Gly3787Glu) single nucleotide variant Cohen syndrome [RCV002295571] Chr8:99868433 [GRCh38]
Chr8:100880661 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8760C>A (p.Pro2920=) single nucleotide variant Inborn genetic diseases [RCV002373788] Chr8:99819550 [GRCh38]
Chr8:100831778 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=) single nucleotide variant Cohen syndrome [RCV003102449]|Inborn genetic diseases [RCV002363948]|VPS13B-related disorder [RCV004744346] Chr8:99870870 [GRCh38]
Chr8:100883098 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+5G>C single nucleotide variant Inborn genetic diseases [RCV002338265] Chr8:99575789 [GRCh38]
Chr8:100588017 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter) single nucleotide variant Cohen syndrome [RCV002306651] Chr8:99431614 [GRCh38]
Chr8:100443842 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del deletion Cohen syndrome [RCV002308664] Chr8:100123325..100182392 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter) single nucleotide variant Cohen syndrome [RCV002310048] Chr8:99835321 [GRCh38]
Chr8:100847549 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8851C>A (p.Pro2951Thr) single nucleotide variant Cohen syndrome [RCV002296312] Chr8:99819979 [GRCh38]
Chr8:100832207 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10307A>C (p.Lys3436Thr) single nucleotide variant Inborn genetic diseases [RCV002394699] Chr8:99853696 [GRCh38]
Chr8:100865924 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg) single nucleotide variant Cohen syndrome [RCV003103366]|Inborn genetic diseases [RCV002378359]|VPS13B-related disorder [RCV004744355] Chr8:99766808 [GRCh38]
Chr8:100779036 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro) single nucleotide variant Cohen syndrome [RCV003099315]|Inborn genetic diseases [RCV002324722] Chr8:99868339 [GRCh38]
Chr8:100880567 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter) single nucleotide variant Cohen syndrome [RCV002310564] Chr8:99502912 [GRCh38]
Chr8:100515140 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter) single nucleotide variant Cohen syndrome [RCV002306554] Chr8:99717221 [GRCh38]
Chr8:100729449 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1558C>G (p.His520Asp) single nucleotide variant Inborn genetic diseases [RCV002405350] Chr8:99135728 [GRCh38]
Chr8:100147956 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter) single nucleotide variant Cohen syndrome [RCV002307238] Chr8:99511350 [GRCh38]
Chr8:100523578 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter) single nucleotide variant Cohen syndrome [RCV002307247] Chr8:99717189 [GRCh38]
Chr8:100729417 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9193T>C (p.Phe3065Leu) single nucleotide variant Cohen syndrome [RCV002295652] Chr8:99823841 [GRCh38]
Chr8:100836069 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3307T>C (p.Trp1103Arg) single nucleotide variant Inborn genetic diseases [RCV002326259] Chr8:99442497 [GRCh38]
Chr8:100454725 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys) deletion Cohen syndrome [RCV003096601]|Inborn genetic diseases [RCV002335836]|VPS13B-related disorder [RCV003395462] Chr8:99875518..99875547 [GRCh38]
Chr8:100887746..100887775 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.908A>G (p.His303Arg) single nucleotide variant Inborn genetic diseases [RCV002378592] Chr8:99115845 [GRCh38]
Chr8:100128073 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7011T>C (p.Asp2337=) single nucleotide variant Cohen syndrome [RCV003098467]|Inborn genetic diseases [RCV002365150] Chr8:99721008 [GRCh38]
Chr8:100733236 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3939T>C (p.Ser1313=) single nucleotide variant Inborn genetic diseases [RCV002373257] Chr8:99501755 [GRCh38]
Chr8:100513983 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4042+5A>G single nucleotide variant Inborn genetic diseases [RCV002321212] Chr8:99501863 [GRCh38]
Chr8:100514091 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5993G>A (p.Gly1998Asp) single nucleotide variant Inborn genetic diseases [RCV002358343] Chr8:99661438 [GRCh38]
Chr8:100673666 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11215+1641A>G single nucleotide variant not specified [RCV002302555] Chr8:99863587 [GRCh38]
Chr8:100875815 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.984T>A (p.His328Gln) single nucleotide variant Cohen syndrome [RCV003097867]|not provided [RCV002300745] Chr8:99121223 [GRCh38]
Chr8:100133451 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr) single nucleotide variant Cohen syndrome [RCV003097403]|Inborn genetic diseases [RCV002423661]|VPS13B-related disorder [RCV004744362] Chr8:99854040 [GRCh38]
Chr8:100866268 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter) single nucleotide variant Cohen syndrome [RCV002308038] Chr8:99778732 [GRCh38]
Chr8:100790960 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys) single nucleotide variant Cohen syndrome [RCV003100121]|Inborn genetic diseases [RCV002371300] Chr8:99821447 [GRCh38]
Chr8:100833675 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4837A>G (p.Thr1613Ala) single nucleotide variant Cohen syndrome [RCV002303431] Chr8:99556541 [GRCh38]
Chr8:100568769 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu) single nucleotide variant Cohen syndrome [RCV003100054]|Inborn genetic diseases [RCV002376071] Chr8:99819956 [GRCh38]
Chr8:100832184 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter) single nucleotide variant Cohen syndrome [RCV002308122] Chr8:99766900 [GRCh38]
Chr8:100779128 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.1440C>A (p.Phe480Leu) single nucleotide variant Cohen syndrome [RCV002299781] Chr8:99135610 [GRCh38]
Chr8:100147838 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6412C>T (p.Leu2138Phe) single nucleotide variant Inborn genetic diseases [RCV002361981] Chr8:99699890 [GRCh38]
Chr8:100712118 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9615-3C>T single nucleotide variant Inborn genetic diseases [RCV002376586] Chr8:99835194 [GRCh38]
Chr8:100847422 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11773G>C (p.Glu3925Gln) single nucleotide variant Inborn genetic diseases [RCV002337686] Chr8:99875445 [GRCh38]
Chr8:100887673 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9860G>A (p.Ser3287Asn) single nucleotide variant Cohen syndrome [RCV002301150] Chr8:99835656 [GRCh38]
Chr8:100847884 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter) single nucleotide variant Cohen syndrome [RCV002309195] Chr8:99442629 [GRCh38]
Chr8:100454857 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5312T>C (p.Ile1771Thr) single nucleotide variant Inborn genetic diseases [RCV002347160] Chr8:99641902 [GRCh38]
Chr8:100654130 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3082+5G>A single nucleotide variant Cohen syndrome [RCV003099178]|Inborn genetic diseases [RCV002319893] Chr8:99391709 [GRCh38]
Chr8:100403937 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3746C>G (p.Ser1249Cys) single nucleotide variant Cohen syndrome [RCV002295776] Chr8:99481678 [GRCh38]
Chr8:100493906 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4690G>C (p.Ala1564Pro) single nucleotide variant Cohen syndrome [RCV002295775] Chr8:99520955 [GRCh38]
Chr8:100533183 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6208C>T (p.Leu2070Phe) single nucleotide variant Cohen syndrome [RCV002301929] Chr8:99699686 [GRCh38]
Chr8:100711914 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11315G>C (p.Gly3772Ala) single nucleotide variant Cohen syndrome [RCV002301586] Chr8:99868388 [GRCh38]
Chr8:100880616 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter) single nucleotide variant Cohen syndrome [RCV002309842] Chr8:99854064 [GRCh38]
Chr8:100866292 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11652C>G (p.Phe3884Leu) single nucleotide variant Cohen syndrome [RCV002303300] Chr8:99871604 [GRCh38]
Chr8:100883832 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4121A>C (p.Lys1374Thr) single nucleotide variant Inborn genetic diseases [RCV002323516]|VPS13B-related disorder [RCV003418461] Chr8:99502914 [GRCh38]
Chr8:100515142 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter) single nucleotide variant Cohen syndrome [RCV002309748] Chr8:99642419 [GRCh38]
Chr8:100654647 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter) single nucleotide variant Cohen syndrome [RCV002309847] Chr8:99147941 [GRCh38]
Chr8:100160169 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter) single nucleotide variant Cohen syndrome [RCV002310258] Chr8:99136665 [GRCh38]
Chr8:100148893 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del) deletion Cohen syndrome [RCV003097153]|Inborn genetic diseases [RCV002398906] Chr8:99143031..99143033 [GRCh38]
Chr8:100155259..100155261 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter) single nucleotide variant Cohen syndrome [RCV002310183] Chr8:99511324 [GRCh38]
Chr8:100523552 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10967G>C (p.Gly3656Ala) single nucleotide variant Cohen syndrome [RCV002296780] Chr8:99859403 [GRCh38]
Chr8:100871631 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter) single nucleotide variant Cohen syndrome [RCV002306694] Chr8:99511198 [GRCh38]
Chr8:100523426 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter) single nucleotide variant Cohen syndrome [RCV002308453] Chr8:99431626 [GRCh38]
Chr8:100443854 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu) single nucleotide variant Cohen syndrome [RCV003094643]|Inborn genetic diseases [RCV002332001] Chr8:99871596 [GRCh38]
Chr8:100883824 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter) single nucleotide variant Cohen syndrome [RCV002306566] Chr8:99384291 [GRCh38]
Chr8:100396519 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs) duplication Cohen syndrome [RCV002308648] Chr8:99511177..99511178 [GRCh38]
Chr8:100523405..100523406 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala) single nucleotide variant Cohen syndrome [RCV003094809]|Inborn genetic diseases [RCV002443428] Chr8:99832393 [GRCh38]
Chr8:100844621 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10868-5T>C single nucleotide variant Cohen syndrome [RCV003074966] Chr8:99859299 [GRCh38]
Chr8:100871527 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10871G>C (p.Trp3624Ser) single nucleotide variant Cohen syndrome [RCV003074967] Chr8:99859307 [GRCh38]
Chr8:100871535 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3205C>T (p.Leu1069=) single nucleotide variant Cohen syndrome [RCV002751457] Chr8:99431659 [GRCh38]
Chr8:100443887 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7820T>C (p.Phe2607Ser) single nucleotide variant Cohen syndrome [RCV002726541] Chr8:99784355 [GRCh38]
Chr8:100796583 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1002T>C (p.Tyr334=) single nucleotide variant Cohen syndrome [RCV003014859] Chr8:99121241 [GRCh38]
Chr8:100133469 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9330+16C>T single nucleotide variant Cohen syndrome [RCV003074036] Chr8:99823994 [GRCh38]
Chr8:100836222 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5522A>G (p.Asn1841Ser) single nucleotide variant Cohen syndrome [RCV002991836] Chr8:99642112 [GRCh38]
Chr8:100654340 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn) single nucleotide variant Cohen syndrome [RCV003103126]|not provided [RCV002462429] Chr8:99832388 [GRCh38]
Chr8:100844616 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11221A>G (p.Ile3741Val) single nucleotide variant Cohen syndrome [RCV003012120] Chr8:99868294 [GRCh38]
Chr8:100880522 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7176G>A (p.Gln2392=) single nucleotide variant Cohen syndrome [RCV002815450] Chr8:99766899 [GRCh38]
Chr8:100779127 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3657T>C (p.Ser1219=) single nucleotide variant Cohen syndrome [RCV003032678] Chr8:99467625 [GRCh38]
Chr8:100479853 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11134G>A (p.Glu3712Lys) single nucleotide variant Cohen syndrome [RCV002751610] Chr8:99861865 [GRCh38]
Chr8:100874093 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9408T>C (p.Leu3136=) single nucleotide variant Cohen syndrome [RCV002816371] Chr8:99832446 [GRCh38]
Chr8:100844674 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3937A>C (p.Ser1313Arg) single nucleotide variant Cohen syndrome [RCV002881514] Chr8:99501753 [GRCh38]
Chr8:100513981 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11496-3C>A single nucleotide variant Cohen syndrome [RCV002993931] Chr8:99871445 [GRCh38]
Chr8:100883673 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4348C>G (p.His1450Asp) single nucleotide variant Inborn genetic diseases [RCV002731781] Chr8:99511227 [GRCh38]
Chr8:100523455 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5595A>G (p.Ala1865=) single nucleotide variant Cohen syndrome [RCV003013231] Chr8:99642185 [GRCh38]
Chr8:100654413 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn) single nucleotide variant Cohen syndrome [RCV002615051]|VPS13B-related disorder [RCV003410101] Chr8:99661425 [GRCh38]
Chr8:100673653 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11743G>A (p.Glu3915Lys) single nucleotide variant Cohen syndrome [RCV002615959] Chr8:99871695 [GRCh38]
Chr8:100883923 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6565C>T (p.Leu2189=) single nucleotide variant Cohen syndrome [RCV002861717] Chr8:99717281 [GRCh38]
Chr8:100729509 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7051-11T>C single nucleotide variant Cohen syndrome [RCV002616530] Chr8:99766763 [GRCh38]
Chr8:100778991 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+15G>A single nucleotide variant Cohen syndrome [RCV002995701] Chr8:99766985 [GRCh38]
Chr8:100779213 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9306C>T (p.Val3102=) single nucleotide variant Cohen syndrome [RCV003074321] Chr8:99823954 [GRCh38]
Chr8:100836182 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4946G>A (p.Ser1649Asn) single nucleotide variant Inborn genetic diseases [RCV002683177] Chr8:99556650 [GRCh38]
Chr8:100568878 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5802G>T (p.Val1934=) single nucleotide variant Cohen syndrome [RCV002838563] Chr8:99642392 [GRCh38]
Chr8:100654620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6057T>C (p.Asn2019=) single nucleotide variant Cohen syndrome [RCV002838886] Chr8:99699535 [GRCh38]
Chr8:100711763 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4302A>G (p.Lys1434=) single nucleotide variant Cohen syndrome [RCV002685550] Chr8:99511181 [GRCh38]
Chr8:100523409 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3438T>A (p.Leu1146=) single nucleotide variant Cohen syndrome [RCV003074371] Chr8:99442628 [GRCh38]
Chr8:100454856 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9682C>A (p.Pro3228Thr) single nucleotide variant Cohen syndrome [RCV002616062] Chr8:99835264 [GRCh38]
Chr8:100847492 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3011C>A (p.Pro1004His) single nucleotide variant Cohen syndrome [RCV003073989] Chr8:99391633 [GRCh38]
Chr8:100403861 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8995-1G>A single nucleotide variant Cohen syndrome [RCV003011661] Chr8:99821293 [GRCh38]
Chr8:100833521 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1305C>A (p.Ala435=) single nucleotide variant Cohen syndrome [RCV002857894] Chr8:99135017 [GRCh38]
Chr8:100147245 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+9A>T single nucleotide variant Cohen syndrome [RCV002815245] Chr8:99135742 [GRCh38]
Chr8:100147970 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser) single nucleotide variant Cohen syndrome [RCV002970825]|Inborn genetic diseases [RCV004068153]|VPS13B-related disorder [RCV004744501] Chr8:99121428 [GRCh38]
Chr8:100133656 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.926G>A (p.Gly309Glu) single nucleotide variant Cohen syndrome [RCV002730343] Chr8:99115863 [GRCh38]
Chr8:100128091 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1844-6T>G single nucleotide variant Cohen syndrome [RCV003013838] Chr8:99147835 [GRCh38]
Chr8:100160063 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6711C>G (p.Leu2237=) single nucleotide variant Cohen syndrome [RCV002615678] Chr8:99720398 [GRCh38]
Chr8:100732626 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5173A>G (p.Ile1725Val) single nucleotide variant Cohen syndrome [RCV002726278] Chr8:99577586 [GRCh38]
Chr8:100589814 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=) single nucleotide variant Cohen syndrome [RCV003074061]|VPS13B-related disorder [RCV003926659] Chr8:99442550 [GRCh38]
Chr8:100454778 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1020G>A (p.Glu340=) single nucleotide variant Cohen syndrome [RCV002880675] Chr8:99121259 [GRCh38]
Chr8:100133487 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+16T>C single nucleotide variant Cohen syndrome [RCV003073967] Chr8:99835340 [GRCh38]
Chr8:100847568 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5313T>A (p.Ile1771=) single nucleotide variant Cohen syndrome [RCV003015704] Chr8:99641903 [GRCh38]
Chr8:100654131 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11898_11901dup (p.Tyr3968fs) duplication Cohen syndrome [RCV002726339] Chr8:99875568..99875569 [GRCh38]
Chr8:100887796..100887797 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs) deletion Cohen syndrome [RCV002862908] Chr8:99854200 [GRCh38]
Chr8:100866428 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter) single nucleotide variant Cohen syndrome [RCV003034974] Chr8:99442404 [GRCh38]
Chr8:100454632 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs) indel Cohen syndrome [RCV002617860] Chr8:99818509..99818515 [GRCh38]
Chr8:100830737..100830743 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9493C>T (p.Pro3165Ser) single nucleotide variant Cohen syndrome [RCV002636194] Chr8:99832531 [GRCh38]
Chr8:100844759 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5661A>G (p.Lys1887=) single nucleotide variant Cohen syndrome [RCV002858171] Chr8:99642251 [GRCh38]
Chr8:100654479 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu) single nucleotide variant Cohen syndrome [RCV002904124]|VPS13B-related disorder [RCV003898587] Chr8:99192892 [GRCh38]
Chr8:100205120 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8793-16G>T single nucleotide variant Cohen syndrome [RCV002971864] Chr8:99819905 [GRCh38]
Chr8:100832133 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5486T>A (p.Met1829Lys) single nucleotide variant Inborn genetic diseases [RCV002841455] Chr8:99642076 [GRCh38]
Chr8:100654304 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11327G>A (p.Gly3776Glu) single nucleotide variant Cohen syndrome [RCV003033703] Chr8:99868400 [GRCh38]
Chr8:100880628 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3083-6A>C single nucleotide variant Cohen syndrome [RCV002843322] Chr8:99431531 [GRCh38]
Chr8:100443759 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9828T>C (p.Tyr3276=) single nucleotide variant Cohen syndrome [RCV003017645] Chr8:99835624 [GRCh38]
Chr8:100847852 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3653G>T (p.Cys1218Phe) single nucleotide variant Cohen syndrome [RCV002995273] Chr8:99467621 [GRCh38]
Chr8:100479849 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2308A>C (p.Lys770Gln) single nucleotide variant Cohen syndrome [RCV002731293] Chr8:99170138 [GRCh38]
Chr8:100182366 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2209-9T>G single nucleotide variant Cohen syndrome [RCV002881775] Chr8:99170030 [GRCh38]
Chr8:100182258 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1167T>C (p.Ser389=) single nucleotide variant Cohen syndrome [RCV002756122] Chr8:99121406 [GRCh38]
Chr8:100133634 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3666+13G>T single nucleotide variant Cohen syndrome [RCV002820032] Chr8:99467647 [GRCh38]
Chr8:100479875 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2189A>G (p.Tyr730Cys) single nucleotide variant Cohen syndrome [RCV002948276] Chr8:99156724 [GRCh38]
Chr8:100168952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11215+8G>C single nucleotide variant Cohen syndrome [RCV003033733] Chr8:99861954 [GRCh38]
Chr8:100874182 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4188A>G (p.Gln1396=) single nucleotide variant Cohen syndrome [RCV003075838] Chr8:99507800 [GRCh38]
Chr8:100520028 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4261C>T (p.His1421Tyr) single nucleotide variant Cohen syndrome [RCV003098952] Chr8:99511140 [GRCh38]
Chr8:100523368 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.763-20A>G single nucleotide variant Cohen syndrome [RCV002750821] Chr8:99115680 [GRCh38]
Chr8:100127908 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs) microsatellite Cohen syndrome [RCV003014126] Chr8:99577499..99577500 [GRCh38]
Chr8:100589727..100589728 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2404A>G (p.Arg802Gly) single nucleotide variant Cohen syndrome [RCV002908603]|Inborn genetic diseases [RCV004066103] Chr8:99192946 [GRCh38]
Chr8:100205174 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9183+15T>C single nucleotide variant Cohen syndrome [RCV003075548] Chr8:99821497 [GRCh38]
Chr8:100833725 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9314C>T (p.Pro3105Leu) single nucleotide variant Cohen syndrome [RCV002795022] Chr8:99823962 [GRCh38]
Chr8:100836190 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10763C>G (p.Pro3588Arg) single nucleotide variant Cohen syndrome [RCV002681803] Chr8:99854152 [GRCh38]
Chr8:100866380 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.133G>T (p.Asp45Tyr) single nucleotide variant Cohen syndrome [RCV003073584] Chr8:99013921 [GRCh38]
Chr8:100026149 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10413A>G (p.Glu3471=) single nucleotide variant Cohen syndrome [RCV003034812] Chr8:99853802 [GRCh38]
Chr8:100866030 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2991G>A (p.Glu997=) single nucleotide variant Cohen syndrome [RCV002819186] Chr8:99391613 [GRCh38]
Chr8:100403841 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11850A>C (p.Gln3950His) single nucleotide variant Cohen syndrome [RCV002690455] Chr8:99875522 [GRCh38]
Chr8:100887750 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11495+10T>A single nucleotide variant Cohen syndrome [RCV002862730] Chr8:99870897 [GRCh38]
Chr8:100883125 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6346A>G (p.Ile2116Val) single nucleotide variant Cohen syndrome [RCV003034828] Chr8:99699824 [GRCh38]
Chr8:100712052 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8081A>G (p.Asn2694Ser) single nucleotide variant Cohen syndrome [RCV003076430]|VPS13B-related disorder [RCV004725498] Chr8:99809514 [GRCh38]
Chr8:100821742 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1302+6C>G single nucleotide variant Cohen syndrome [RCV002947713]|VPS13B-related disorder [RCV003906365] Chr8:99134733 [GRCh38]
Chr8:100146961 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.3697A>G (p.Met1233Val) single nucleotide variant Cohen syndrome [RCV003073723] Chr8:99481629 [GRCh38]
Chr8:100493857 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3083-11C>T single nucleotide variant Cohen syndrome [RCV002617580] Chr8:99431526 [GRCh38]
Chr8:100443754 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3261C>T (p.Ser1087=) single nucleotide variant Cohen syndrome [RCV003035190] Chr8:99442451 [GRCh38]
Chr8:100454679 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter) single nucleotide variant Cohen syndrome [RCV002881942] Chr8:99661391 [GRCh38]
Chr8:100673619 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3719T>C (p.Ile1240Thr) single nucleotide variant Cohen syndrome [RCV002843712] Chr8:99481651 [GRCh38]
Chr8:100493879 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7617G>A (p.Met2539Ile) single nucleotide variant Cohen syndrome [RCV003035263] Chr8:99778869 [GRCh38]
Chr8:100791097 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7050+9T>C single nucleotide variant Cohen syndrome [RCV002996130] Chr8:99721056 [GRCh38]
Chr8:100733284 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter) single nucleotide variant Cohen syndrome [RCV003076356] Chr8:99868348 [GRCh38]
Chr8:100880576 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6457A>G (p.Ile2153Val) single nucleotide variant Cohen syndrome [RCV002882102] Chr8:99717173 [GRCh38]
Chr8:100729401 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3820C>A (p.Pro1274Thr) single nucleotide variant Cohen syndrome [RCV002727128] Chr8:99481752 [GRCh38]
Chr8:100493980 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.412+2T>C single nucleotide variant Cohen syndrome [RCV003075898] Chr8:99096434 [GRCh38]
Chr8:100108662 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7246A>C (p.Ser2416Arg) single nucleotide variant Cohen syndrome [RCV003017610] Chr8:99766969 [GRCh38]
Chr8:100779197 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3591T>A (p.Pro1197=) single nucleotide variant Cohen syndrome [RCV003011703]|VPS13B-related disorder [RCV003898689] Chr8:99467559 [GRCh38]
Chr8:100479787 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8228A>G (p.Lys2743Arg) single nucleotide variant Cohen syndrome [RCV003075281] Chr8:99817670 [GRCh38]
Chr8:100829898 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10908A>C (p.Ala3636=) single nucleotide variant Cohen syndrome [RCV003076065] Chr8:99859344 [GRCh38]
Chr8:100871572 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val) single nucleotide variant Cohen syndrome [RCV002947611]|not provided [RCV003434524] Chr8:99835201 [GRCh38]
Chr8:100847429 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11858G>A (p.Cys3953Tyr) single nucleotide variant Cohen syndrome [RCV002996849] Chr8:99875530 [GRCh38]
Chr8:100887758 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8142A>T (p.Gln2714His) single nucleotide variant Cohen syndrome [RCV002618592] Chr8:99817584 [GRCh38]
Chr8:100829812 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11392+7C>T single nucleotide variant Cohen syndrome [RCV002780013] Chr8:99868472 [GRCh38]
Chr8:100880700 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11035A>T (p.Ile3679Phe) single nucleotide variant Cohen syndrome [RCV002681279] Chr8:99859471 [GRCh38]
Chr8:100871699 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2745G>A (p.Lys915=) single nucleotide variant Cohen syndrome [RCV002862812] Chr8:99275175 [GRCh38]
Chr8:100287403 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1871T>G (p.Leu624Arg) single nucleotide variant Cohen syndrome [RCV003076957] Chr8:99147868 [GRCh38]
Chr8:100160096 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11746-15_11746-12dup duplication Cohen syndrome [RCV002756644] Chr8:99875400..99875401 [GRCh38]
Chr8:100887628..100887629 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1484C>A (p.Thr495Lys) single nucleotide variant Cohen syndrome [RCV002726370] Chr8:99135654 [GRCh38]
Chr8:100147882 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2291G>T (p.Ser764Ile) single nucleotide variant Cohen syndrome [RCV002967625] Chr8:99170121 [GRCh38]
Chr8:100182349 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11392+5G>C single nucleotide variant Cohen syndrome [RCV003013743] Chr8:99868470 [GRCh38]
Chr8:100880698 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4276C>T (p.Leu1426=) single nucleotide variant Cohen syndrome [RCV003014731] Chr8:99511155 [GRCh38]
Chr8:100523383 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2013G>A (p.Lys671=) single nucleotide variant Cohen syndrome [RCV002750681] Chr8:99148010 [GRCh38]
Chr8:100160238 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7780-7C>T single nucleotide variant Cohen syndrome [RCV002838586] Chr8:99784308 [GRCh38]
Chr8:100796536 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6684T>C (p.Asn2228=) single nucleotide variant Cohen syndrome [RCV002863170] Chr8:99720371 [GRCh38]
Chr8:100732599 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3994A>G (p.Lys1332Glu) single nucleotide variant Inborn genetic diseases [RCV002777763] Chr8:99501810 [GRCh38]
Chr8:100514038 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8106C>T (p.Ile2702=) single nucleotide variant Cohen syndrome [RCV002685568] Chr8:99817548 [GRCh38]
Chr8:100829776 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9330+1G>A single nucleotide variant Cohen syndrome [RCV002512496] Chr8:99823979 [GRCh38]
Chr8:100836207 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3444A>C (p.Glu1148Asp) single nucleotide variant Cohen syndrome [RCV003097479] Chr8:99442634 [GRCh38]
Chr8:100454862 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs) indel Cohen syndrome [RCV002991723] Chr8:99835279..99835282 [GRCh38]
Chr8:100847507..100847510 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5233G>A (p.Glu1745Lys) single nucleotide variant Cohen syndrome [RCV002838340] Chr8:99641823 [GRCh38]
Chr8:100654051 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3293G>A (p.Gly1098Glu) single nucleotide variant Cohen syndrome [RCV002614885] Chr8:99442483 [GRCh38]
Chr8:100454711 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11733C>T (p.Ala3911=) single nucleotide variant Cohen syndrome [RCV003074028]|VPS13B-related disorder [RCV004744548] Chr8:99871685 [GRCh38]
Chr8:100883913 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2934+7G>T single nucleotide variant Cohen syndrome [RCV002839029] Chr8:99384324 [GRCh38]
Chr8:100396552 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8264A>C (p.Glu2755Ala) single nucleotide variant Inborn genetic diseases [RCV002841687] Chr8:99817706 [GRCh38]
Chr8:100829934 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8491C>A (p.Pro2831Thr) single nucleotide variant Inborn genetic diseases [RCV002776857] Chr8:99818758 [GRCh38]
Chr8:100830986 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11746-18_11746-15dup duplication Cohen syndrome [RCV002616304] Chr8:99875399..99875400 [GRCh38]
Chr8:100887627..100887628 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6185A>G (p.Asn2062Ser) single nucleotide variant Cohen syndrome [RCV002685710] Chr8:99699663 [GRCh38]
Chr8:100711891 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter) single nucleotide variant Cohen syndrome [RCV003033763] Chr8:99135649 [GRCh38]
Chr8:100147877 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3082+13T>C single nucleotide variant Cohen syndrome [RCV003013292] Chr8:99391717 [GRCh38]
Chr8:100403945 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11393-1G>C single nucleotide variant Cohen syndrome [RCV002755398] Chr8:99870784 [GRCh38]
Chr8:100883012 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5859C>A (p.Ser1953=) single nucleotide variant Cohen syndrome [RCV003015996] Chr8:99642449 [GRCh38]
Chr8:100654677 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3880A>G (p.Ile1294Val) single nucleotide variant Cohen syndrome [RCV002615491] Chr8:99501696 [GRCh38]
Chr8:100513924 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8995-16G>A single nucleotide variant Cohen syndrome [RCV002904323] Chr8:99821278 [GRCh38]
Chr8:100833506 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10934G>C (p.Gly3645Ala) single nucleotide variant Cohen syndrome [RCV002731180] Chr8:99859370 [GRCh38]
Chr8:100871598 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+6_4949+19del deletion Cohen syndrome [RCV003074723]|VPS13B-related disorder [RCV003898752] Chr8:99556659..99556672 [GRCh38]
Chr8:100568887..100568900 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.11336G>C (p.Gly3779Ala) single nucleotide variant Cohen syndrome [RCV002995767] Chr8:99868409 [GRCh38]
Chr8:100880637 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7273A>C (p.Ser2425Arg) single nucleotide variant Cohen syndrome [RCV003015767] Chr8:99776800 [GRCh38]
Chr8:100789028 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.31A>T (p.Met11Leu) single nucleotide variant Cohen syndrome [RCV002837824] Chr8:99013819 [GRCh38]
Chr8:100026047 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8061C>G (p.Ile2687Met) single nucleotide variant Cohen syndrome [RCV002902907]|VPS13B-related disorder [RCV004744466] Chr8:99809494 [GRCh38]
Chr8:100821722 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.580G>A (p.Ala194Thr) single nucleotide variant Cohen syndrome [RCV002862537] Chr8:99103120 [GRCh38]
Chr8:100115348 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3870+20C>G single nucleotide variant Cohen syndrome [RCV003033506] Chr8:99481822 [GRCh38]
Chr8:100494050 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8436A>G (p.Gln2812=) single nucleotide variant Cohen syndrome [RCV002972014] Chr8:99818525 [GRCh38]
Chr8:100830753 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7854G>A (p.Arg2618=) single nucleotide variant Cohen syndrome [RCV003074727] Chr8:99784389 [GRCh38]
Chr8:100796617 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4868A>T (p.Lys1623Met) single nucleotide variant Cohen syndrome [RCV002815701] Chr8:99556572 [GRCh38]
Chr8:100568800 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11523A>C (p.Pro3841=) single nucleotide variant Cohen syndrome [RCV002838090] Chr8:99871475 [GRCh38]
Chr8:100883703 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.995A>G (p.Glu332Gly) single nucleotide variant Cohen syndrome [RCV003074344] Chr8:99121234 [GRCh38]
Chr8:100133462 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1198A>G (p.Thr400Ala) single nucleotide variant Cohen syndrome [RCV003074806]|VPS13B-related disorder [RCV004744564] Chr8:99121437 [GRCh38]
Chr8:100133665 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4153A>G (p.Ser1385Gly) single nucleotide variant Cohen syndrome [RCV002996048] Chr8:99502946 [GRCh38]
Chr8:100515174 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9409C>T (p.Pro3137Ser) single nucleotide variant Cohen syndrome [RCV003074692] Chr8:99832447 [GRCh38]
Chr8:100844675 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7518C>T (p.His2506=) single nucleotide variant Cohen syndrome [RCV003033264] Chr8:99778770 [GRCh38]
Chr8:100790998 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7351G>A (p.Val2451Ile) single nucleotide variant Cohen syndrome [RCV002903601] Chr8:99776878 [GRCh38]
Chr8:100789106 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5826T>C (p.Ser1942=) single nucleotide variant Cohen syndrome [RCV002861904] Chr8:99642416 [GRCh38]
Chr8:100654644 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2208G>C (p.Lys736Asn) single nucleotide variant Cohen syndrome [RCV002816558] Chr8:99156743 [GRCh38]
Chr8:100168971 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4752C>T (p.Ala1584=) single nucleotide variant Cohen syndrome [RCV002838881]|VPS13B-related disorder [RCV004744455] Chr8:99556456 [GRCh38]
Chr8:100568684 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5244A>G (p.Lys1748=) single nucleotide variant Cohen syndrome [RCV002616438] Chr8:99641834 [GRCh38]
Chr8:100654062 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.210A>G (p.Pro70=) single nucleotide variant Cohen syndrome [RCV002616736] Chr8:99038485 [GRCh38]
Chr8:100050713 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7520T>C (p.Met2507Thr) single nucleotide variant Cohen syndrome [RCV002771139] Chr8:99778772 [GRCh38]
Chr8:100791000 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs) deletion Cohen syndrome [RCV003013442] Chr8:99111224..99111228 [GRCh38]
Chr8:100123452..100123456 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4225-9T>C single nucleotide variant Cohen syndrome [RCV002903986] Chr8:99511095 [GRCh38]
Chr8:100523323 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6988G>A (p.Val2330Ile) single nucleotide variant Cohen syndrome [RCV003074977] Chr8:99720985 [GRCh38]
Chr8:100733213 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1309A>G (p.Met437Val) single nucleotide variant Cohen syndrome [RCV002613551] Chr8:99135021 [GRCh38]
Chr8:100147249 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11556G>T (p.Val3852=) single nucleotide variant Cohen syndrome [RCV002858583] Chr8:99871508 [GRCh38]
Chr8:100883736 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8339C>G (p.Pro2780Arg) single nucleotide variant Cohen syndrome [RCV002996626] Chr8:99817781 [GRCh38]
Chr8:100830009 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3005G>A (p.Ser1002Asn) single nucleotide variant Cohen syndrome [RCV002755981] Chr8:99391627 [GRCh38]
Chr8:100403855 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.541dup (p.Val181fs) duplication Cohen syndrome [RCV002819444] Chr8:99103080..99103081 [GRCh38]
Chr8:100115308..100115309 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1059G>A (p.Val353=) single nucleotide variant Cohen syndrome [RCV003034726] Chr8:99121298 [GRCh38]
Chr8:100133526 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter) single nucleotide variant Cohen syndrome [RCV002861822] Chr8:99642108 [GRCh38]
Chr8:100654336 [GRCh37]
Chr8:8q22.2		 pathogenic
GRCh37/hg19 8q22.2(chr8:99681017-100059441)x3 copy number gain not provided [RCV002475535] Chr8:99681017..100059441 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu) single nucleotide variant Cohen syndrome [RCV002618684]|Inborn genetic diseases [RCV002618683] Chr8:99854059 [GRCh38]
Chr8:100866287 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG indel Cohen syndrome [RCV002967415] Chr8:99871065..99871459 [GRCh38]
Chr8:100883293..100883687 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11580A>G (p.Glu3860=) single nucleotide variant Cohen syndrome [RCV002815811] Chr8:99871532 [GRCh38]
Chr8:100883760 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5802G>A (p.Val1934=) single nucleotide variant Cohen syndrome [RCV002882303] Chr8:99642392 [GRCh38]
Chr8:100654620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5753G>A (p.Arg1918Gln) single nucleotide variant Cohen syndrome [RCV002994226] Chr8:99642343 [GRCh38]
Chr8:100654571 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6313T>G (p.Cys2105Gly) single nucleotide variant Cohen syndrome [RCV002842169] Chr8:99699791 [GRCh38]
Chr8:100712019 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter) single nucleotide variant Cohen syndrome [RCV002863818] Chr8:99823976 [GRCh38]
Chr8:100836204 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8556A>G (p.Lys2852=) single nucleotide variant Cohen syndrome [RCV003011732] Chr8:99818823 [GRCh38]
Chr8:100831051 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6756T>C (p.Ser2252=) single nucleotide variant Cohen syndrome [RCV003016772] Chr8:99720443 [GRCh38]
Chr8:100732671 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7050+17C>A single nucleotide variant Cohen syndrome [RCV003076734] Chr8:99721064 [GRCh38]
Chr8:100733292 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1327T>G (p.Phe443Val) single nucleotide variant Inborn genetic diseases [RCV002778508] Chr8:99135039 [GRCh38]
Chr8:100147267 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100791384-101278033)x3 copy number gain not provided [RCV002475819] Chr8:100791384..101278033 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1739G>A (p.Gly580Asp) single nucleotide variant Cohen syndrome [RCV002993703] Chr8:99143061 [GRCh38]
Chr8:100155289 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.22C>G (p.Pro8Ala) single nucleotide variant Cohen syndrome [RCV002996554] Chr8:99013810 [GRCh38]
Chr8:100026038 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3158T>A (p.Met1053Lys) single nucleotide variant Cohen syndrome [RCV003076655] Chr8:99431612 [GRCh38]
Chr8:100443840 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5913T>C (p.Pro1971=) single nucleotide variant Cohen syndrome [RCV002726522] Chr8:99661358 [GRCh38]
Chr8:100673586 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+18G>A single nucleotide variant Cohen syndrome [RCV002882185] Chr8:99274350 [GRCh38]
Chr8:100286578 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1269A>G (p.Val423=) single nucleotide variant Cohen syndrome [RCV002908586] Chr8:99134694 [GRCh38]
Chr8:100146922 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5600T>C (p.Ile1867Thr) single nucleotide variant Cohen syndrome [RCV002967867] Chr8:99642190 [GRCh38]
Chr8:100654418 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2650+14G>A single nucleotide variant Cohen syndrome [RCV002904322] Chr8:99274346 [GRCh38]
Chr8:100286574 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu) single nucleotide variant Cohen syndrome [RCV003074255]|Inborn genetic diseases [RCV003065235] Chr8:99819569 [GRCh38]
Chr8:100831797 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8621+6A>G single nucleotide variant Cohen syndrome [RCV002775887] Chr8:99818894 [GRCh38]
Chr8:100831122 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3249T>C (p.Asp1083=) single nucleotide variant Cohen syndrome [RCV003016516] Chr8:99442439 [GRCh38]
Chr8:100454667 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.2824+5_2824+11dup duplication Cohen syndrome [RCV002996773] Chr8:99275256..99275257 [GRCh38]
Chr8:100287484..100287485 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4032T>G (p.Asn1344Lys) single nucleotide variant Cohen syndrome [RCV003055450] Chr8:99501848 [GRCh38]
Chr8:100514076 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4539A>G (p.Thr1513=) single nucleotide variant Cohen syndrome [RCV003039274] Chr8:99511418 [GRCh38]
Chr8:100523646 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8068G>T (p.Val2690Phe) single nucleotide variant Cohen syndrome [RCV003020849] Chr8:99809501 [GRCh38]
Chr8:100821729 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7779+8C>T single nucleotide variant Cohen syndrome [RCV002889597] Chr8:99779039 [GRCh38]
Chr8:100791267 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3414A>T (p.Pro1138=) single nucleotide variant Cohen syndrome [RCV002953539] Chr8:99442604 [GRCh38]
Chr8:100454832 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8369C>T (p.Ser2790Phe) single nucleotide variant Cohen syndrome [RCV002824793] Chr8:99818458 [GRCh38]
Chr8:100830686 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4079C>T (p.Ala1360Val) single nucleotide variant Cohen syndrome [RCV003039351] Chr8:99502872 [GRCh38]
Chr8:100515100 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10740G>A (p.Leu3580=) single nucleotide variant Cohen syndrome [RCV002640564] Chr8:99854129 [GRCh38]
Chr8:100866357 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1947C>G (p.Thr649=) single nucleotide variant Cohen syndrome [RCV002914421] Chr8:99147944 [GRCh38]
Chr8:100160172 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter) single nucleotide variant Cohen syndrome [RCV002948661] Chr8:99642117 [GRCh38]
Chr8:100654345 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu) single nucleotide variant Cohen syndrome [RCV002640639]|Inborn genetic diseases [RCV002625091]|VPS13B-related disorder [RCV004744629] Chr8:99135055 [GRCh38]
Chr8:100147283 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6690A>T (p.Leu2230Phe) single nucleotide variant Cohen syndrome [RCV002952582] Chr8:99720377 [GRCh38]
Chr8:100732605 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly) single nucleotide variant Cohen syndrome [RCV002914246]|Inborn genetic diseases [RCV002914245] Chr8:99103112 [GRCh38]
Chr8:100115340 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10775C>T (p.Ser3592Leu) single nucleotide variant Cohen syndrome [RCV002885571] Chr8:99854164 [GRCh38]
Chr8:100866392 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6154G>T (p.Ala2052Ser) single nucleotide variant Cohen syndrome [RCV003036857] Chr8:99699632 [GRCh38]
Chr8:100711860 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7980T>C (p.Arg2660=) single nucleotide variant Cohen syndrome [RCV002620062] Chr8:99809413 [GRCh38]
Chr8:100821641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7116T>A (p.Asn2372Lys) single nucleotide variant Cohen syndrome [RCV003021408] Chr8:99766839 [GRCh38]
Chr8:100779067 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10113G>T (p.Leu3371=) single nucleotide variant Cohen syndrome [RCV002847994]|VPS13B-related disorder [RCV004744461] Chr8:99853502 [GRCh38]
Chr8:100865730 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7185A>G (p.Leu2395=) single nucleotide variant Cohen syndrome [RCV003020997] Chr8:99766908 [GRCh38]
Chr8:100779136 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7239T>C (p.Asp2413=) single nucleotide variant Cohen syndrome [RCV002591143] Chr8:99766962 [GRCh38]
Chr8:100779190 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9985G>C (p.Val3329Leu) single nucleotide variant Cohen syndrome [RCV002953148] Chr8:99848818 [GRCh38]
Chr8:100861046 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11746-3T>C single nucleotide variant Cohen syndrome [RCV003002742] Chr8:99875415 [GRCh38]
Chr8:100887643 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11362G>A (p.Ala3788Thr) single nucleotide variant Cohen syndrome [RCV002619471] Chr8:99868435 [GRCh38]
Chr8:100880663 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8074C>G (p.Gln2692Glu) single nucleotide variant Cohen syndrome [RCV002695713] Chr8:99809507 [GRCh38]
Chr8:100821735 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11401C>T (p.His3801Tyr) single nucleotide variant Cohen syndrome [RCV002889863]|Inborn genetic diseases [RCV004966137] Chr8:99870793 [GRCh38]
Chr8:100883021 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4034A>G (p.Lys1345Arg) single nucleotide variant Cohen syndrome [RCV003081718]|VPS13B-related disorder [RCV004744568] Chr8:99501850 [GRCh38]
Chr8:100514078 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6865+7A>G single nucleotide variant Cohen syndrome [RCV002696299] Chr8:99720559 [GRCh38]
Chr8:100732787 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9920A>G (p.Asp3307Gly) single nucleotide variant Cohen syndrome [RCV002696181] Chr8:99835716 [GRCh38]
Chr8:100847944 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+716A>G single nucleotide variant Cohen syndrome [RCV002889694] Chr8:99507919 [GRCh38]
Chr8:100520147 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.581-9del deletion Cohen syndrome [RCV002640538] Chr8:99111081 [GRCh38]
Chr8:100123309 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4509A>G (p.Lys1503=) single nucleotide variant Cohen syndrome [RCV002848103] Chr8:99511388 [GRCh38]
Chr8:100523616 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4944C>T (p.Ala1648=) single nucleotide variant Cohen syndrome [RCV003055626] Chr8:99556648 [GRCh38]
Chr8:100568876 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-12del deletion Cohen syndrome [RCV002914124] Chr8:99102935 [GRCh38]
Chr8:100115163 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4975G>A (p.Ala1659Thr) single nucleotide variant Cohen syndrome [RCV003081404] Chr8:99575683 [GRCh38]
Chr8:100587911 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8362G>T (p.Val2788Leu) single nucleotide variant Cohen syndrome [RCV003003235] Chr8:99818451 [GRCh38]
Chr8:100830679 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3639A>G (p.Ser1213=) single nucleotide variant Cohen syndrome [RCV002949601] Chr8:99467607 [GRCh38]
Chr8:100479835 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8994+18A>G single nucleotide variant Cohen syndrome [RCV002953586] Chr8:99820140 [GRCh38]
Chr8:100832368 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7344A>T (p.Pro2448=) single nucleotide variant Cohen syndrome [RCV003081763] Chr8:99776871 [GRCh38]
Chr8:100789099 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7347G>T (p.Trp2449Cys) single nucleotide variant Cohen syndrome [RCV003081764] Chr8:99776874 [GRCh38]
Chr8:100789102 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val) single nucleotide variant Cohen syndrome [RCV003002854]|not provided [RCV003126261] Chr8:99642318 [GRCh38]
Chr8:100654546 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3082+1G>A single nucleotide variant Cohen syndrome [RCV003077899] Chr8:99391705 [GRCh38]
Chr8:100403933 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9945T>G (p.Val3315=) single nucleotide variant Cohen syndrome [RCV003079520] Chr8:99848778 [GRCh38]
Chr8:100861006 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-16G>T single nucleotide variant Cohen syndrome [RCV002909919] Chr8:99821278 [GRCh38]
Chr8:100833506 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys) single nucleotide variant Cohen syndrome [RCV002640663]|Inborn genetic diseases [RCV002625141] Chr8:99835623 [GRCh38]
Chr8:100847851 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9743-10A>T single nucleotide variant Cohen syndrome [RCV003080789] Chr8:99835529 [GRCh38]
Chr8:100847757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter) single nucleotide variant Cohen syndrome [RCV002820232] Chr8:99143141 [GRCh38]
Chr8:100155369 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1128T>C (p.His376=) single nucleotide variant Cohen syndrome [RCV003078595] Chr8:99121367 [GRCh38]
Chr8:100133595 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11284G>A (p.Ala3762Thr) single nucleotide variant Cohen syndrome [RCV002800082] Chr8:99868357 [GRCh38]
Chr8:100880585 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1244C>T (p.Pro415Leu) single nucleotide variant Cohen syndrome [RCV002662718] Chr8:99134669 [GRCh38]
Chr8:100146897 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs) deletion Cohen syndrome [RCV003021671] Chr8:99467546 [GRCh38]
Chr8:100479774 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.840T>G (p.Leu280=) single nucleotide variant Cohen syndrome [RCV003039517] Chr8:99115777 [GRCh38]
Chr8:100128005 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10667A>C (p.Asn3556Thr) single nucleotide variant Cohen syndrome [RCV003021231] Chr8:99854056 [GRCh38]
Chr8:100866284 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3192G>A (p.Val1064=) single nucleotide variant Cohen syndrome [RCV003038796] Chr8:99431646 [GRCh38]
Chr8:100443874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1110T>C (p.Asp370=) single nucleotide variant Cohen syndrome [RCV002591361]|VPS13B-related disorder [RCV004744589] Chr8:99121349 [GRCh38]
Chr8:100133577 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4076G>A (p.Ser1359Asn) single nucleotide variant Cohen syndrome [RCV002785654] Chr8:99502869 [GRCh38]
Chr8:100515097 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6658-10G>T single nucleotide variant Cohen syndrome [RCV002846767] Chr8:99720335 [GRCh38]
Chr8:100732563 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4947C>A (p.Ser1649Arg) single nucleotide variant Inborn genetic diseases [RCV002706861] Chr8:99556651 [GRCh38]
Chr8:100568879 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8098-7C>T single nucleotide variant Cohen syndrome [RCV002622963] Chr8:99817533 [GRCh38]
Chr8:100829761 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7728T>C (p.Leu2576=) single nucleotide variant Cohen syndrome [RCV002953434] Chr8:99778980 [GRCh38]
Chr8:100791208 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5141G>A (p.Ser1714Asn) single nucleotide variant Cohen syndrome [RCV002949157]|VPS13B-related disorder [RCV004744498] Chr8:99577554 [GRCh38]
Chr8:100589782 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9337C>T (p.Arg3113Cys) single nucleotide variant Cohen syndrome [RCV002620118] Chr8:99832375 [GRCh38]
Chr8:100844603 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1563+13A>G single nucleotide variant Cohen syndrome [RCV002847551] Chr8:99135746 [GRCh38]
Chr8:100147974 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=) single nucleotide variant Cohen syndrome [RCV002867021] Chr8:99809413 [GRCh38]
Chr8:100821641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+12G>C single nucleotide variant Cohen syndrome [RCV003037148] Chr8:99870899 [GRCh38]
Chr8:100883127 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6144A>G (p.Ala2048=) single nucleotide variant Cohen syndrome [RCV002736517]|VPS13B-related disorder [RCV004744438] Chr8:99699622 [GRCh38]
Chr8:100711850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11553G>A (p.Leu3851=) single nucleotide variant Cohen syndrome [RCV002796787] Chr8:99871505 [GRCh38]
Chr8:100883733 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4245T>C (p.Asp1415=) single nucleotide variant Cohen syndrome [RCV002619112] Chr8:99511124 [GRCh38]
Chr8:100523352 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs) deletion Cohen syndrome [RCV002885047] Chr8:99577609 [GRCh38]
Chr8:100589837 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.596T>G (p.Leu199Arg) single nucleotide variant Cohen syndrome [RCV002923507] Chr8:99111113 [GRCh38]
Chr8:100123341 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr) single nucleotide variant Cohen syndrome [RCV003078942]|Inborn genetic diseases [RCV003061451] Chr8:99699632 [GRCh38]
Chr8:100711860 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7326T>C (p.Val2442=) single nucleotide variant Cohen syndrome [RCV002621008] Chr8:99776853 [GRCh38]
Chr8:100789081 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6860A>G (p.Asp2287Gly) single nucleotide variant Cohen syndrome [RCV002998792] Chr8:99720547 [GRCh38]
Chr8:100732775 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1425+7C>G single nucleotide variant Cohen syndrome [RCV002846848] Chr8:99135144 [GRCh38]
Chr8:100147372 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2333+3A>G single nucleotide variant Cohen syndrome [RCV002912442] Chr8:99170166 [GRCh38]
Chr8:100182394 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7833T>C (p.Asn2611=) single nucleotide variant Cohen syndrome [RCV002885083] Chr8:99784368 [GRCh38]
Chr8:100796596 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4243G>C (p.Val1415Leu) single nucleotide variant Cohen syndrome [RCV002638200] Chr8:99507855 [GRCh38]
Chr8:100520083 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10224A>T (p.Glu3408Asp) single nucleotide variant Cohen syndrome [RCV002619410]|VPS13B-related disorder [RCV004744597] Chr8:99853613 [GRCh38]
Chr8:100865841 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3017C>A (p.Ala1006Glu) single nucleotide variant Cohen syndrome [RCV003077648] Chr8:99391639 [GRCh38]
Chr8:100403867 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs) deletion Cohen syndrome [RCV002736038] Chr8:99853550..99853559 [GRCh38]
Chr8:100865778..100865787 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5384C>T (p.Ala1795Val) single nucleotide variant Cohen syndrome [RCV002998758] Chr8:99641974 [GRCh38]
Chr8:100654202 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4385A>G (p.His1462Arg) single nucleotide variant Cohen syndrome [RCV003037516] Chr8:99511264 [GRCh38]
Chr8:100523492 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6511A>G (p.Ser2171Gly) single nucleotide variant Cohen syndrome [RCV002736786] Chr8:99717227 [GRCh38]
Chr8:100729455 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.722C>T (p.Thr241Ile) single nucleotide variant Cohen syndrome [RCV002796683] Chr8:99111239 [GRCh38]
Chr8:100123467 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3871-14T>C single nucleotide variant Cohen syndrome [RCV002620916] Chr8:99501673 [GRCh38]
Chr8:100513901 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11574G>A (p.Glu3858=) single nucleotide variant Cohen syndrome [RCV002760426] Chr8:99871526 [GRCh38]
Chr8:100883754 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2020A>G (p.Ser674Gly) single nucleotide variant Cohen syndrome [RCV002760428] Chr8:99156555 [GRCh38]
Chr8:100168783 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7116T>C (p.Asn2372=) single nucleotide variant Cohen syndrome [RCV003079973] Chr8:99766839 [GRCh38]
Chr8:100779067 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3345C>G (p.Val1115=) single nucleotide variant Cohen syndrome [RCV002866844] Chr8:99442535 [GRCh38]
Chr8:100454763 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2639C>T (p.Ala880Val) single nucleotide variant Cohen syndrome [RCV002637595] Chr8:99274321 [GRCh38]
Chr8:100286549 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4929T>C (p.Leu1643=) single nucleotide variant Cohen syndrome [RCV002796691] Chr8:99556633 [GRCh38]
Chr8:100568861 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6457A>T (p.Ile2153Leu) single nucleotide variant Inborn genetic diseases [RCV002911744] Chr8:99717173 [GRCh38]
Chr8:100729401 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11859C>T (p.Cys3953=) single nucleotide variant Cohen syndrome [RCV003019859] Chr8:99875531 [GRCh38]
Chr8:100887759 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4949+14G>A single nucleotide variant Cohen syndrome [RCV003079981] Chr8:99556667 [GRCh38]
Chr8:100568895 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.832A>T (p.Met278Leu) single nucleotide variant Cohen syndrome [RCV003018485] Chr8:99115769 [GRCh38]
Chr8:100127997 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5848G>C (p.Val1950Leu) single nucleotide variant Cohen syndrome [RCV002795848] Chr8:99642438 [GRCh38]
Chr8:100654666 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4157+9T>C single nucleotide variant Cohen syndrome [RCV002659506] Chr8:99502959 [GRCh38]
Chr8:100515187 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5647C>T (p.Pro1883Ser) single nucleotide variant Cohen syndrome [RCV003053550] Chr8:99642237 [GRCh38]
Chr8:100654465 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter) single nucleotide variant Cohen syndrome [RCV002760153] Chr8:99442498 [GRCh38]
Chr8:100454726 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8868G>A (p.Leu2956=) single nucleotide variant Cohen syndrome [RCV002847199] Chr8:99819996 [GRCh38]
Chr8:100832224 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs) deletion Cohen syndrome [RCV002780194]|Inborn genetic diseases [RCV004966086]|VPS13B-related disorder [RCV004744440] Chr8:99442424 [GRCh38]
Chr8:100454652 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5112T>C (p.Asn1704=) single nucleotide variant Cohen syndrome [RCV002636631] Chr8:99577525 [GRCh38]
Chr8:100589753 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3276A>G (p.Val1092=) single nucleotide variant Cohen syndrome [RCV003036029] Chr8:99442466 [GRCh38]
Chr8:100454694 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4362A>T (p.Glu1454Asp) single nucleotide variant Cohen syndrome [RCV003078564] Chr8:99511241 [GRCh38]
Chr8:100523469 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4440T>C (p.Phe1480=) single nucleotide variant Cohen syndrome [RCV002949112] Chr8:99511319 [GRCh38]
Chr8:100523547 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10371C>T (p.Ser3457=) single nucleotide variant Cohen syndrome [RCV002796588] Chr8:99853760 [GRCh38]
Chr8:100865988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8300A>C (p.Glu2767Ala) single nucleotide variant Cohen syndrome [RCV002998995] Chr8:99817742 [GRCh38]
Chr8:100829970 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2679C>G (p.Pro893=) single nucleotide variant Cohen syndrome [RCV002847077] Chr8:99275109 [GRCh38]
Chr8:100287337 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9529C>T (p.Leu3177=) single nucleotide variant Cohen syndrome [RCV002979247] Chr8:99832567 [GRCh38]
Chr8:100844795 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6560C>T (p.Ala2187Val) single nucleotide variant Cohen syndrome [RCV002821005] Chr8:99717276 [GRCh38]
Chr8:100729504 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=) single nucleotide variant Cohen syndrome [RCV002976116]|VPS13B-related disorder [RCV004744514] Chr8:99832623 [GRCh38]
Chr8:100844851 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.5165A>G (p.His1722Arg) single nucleotide variant Cohen syndrome [RCV003053186] Chr8:99577578 [GRCh38]
Chr8:100589806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5233G>C (p.Glu1745Gln) single nucleotide variant Cohen syndrome [RCV002948771] Chr8:99641823 [GRCh38]
Chr8:100654051 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6985C>G (p.Pro2329Ala) single nucleotide variant Cohen syndrome [RCV002659140] Chr8:99720982 [GRCh38]
Chr8:100733210 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6377C>G (p.Thr2126Ser) single nucleotide variant Cohen syndrome [RCV003020057] Chr8:99699855 [GRCh38]
Chr8:100712083 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4514C>T (p.Pro1505Leu) single nucleotide variant Cohen syndrome [RCV002823862] Chr8:99511393 [GRCh38]
Chr8:100523621 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8445+8C>G single nucleotide variant Cohen syndrome [RCV003036181] Chr8:99818542 [GRCh38]
Chr8:100830770 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9063G>C (p.Leu3021=) single nucleotide variant Cohen syndrome [RCV002976157] Chr8:99821362 [GRCh38]
Chr8:100833590 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4871A>G (p.Glu1624Gly) single nucleotide variant Cohen syndrome [RCV002795274] Chr8:99556575 [GRCh38]
Chr8:100568803 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8121C>G (p.Ile2707Met) single nucleotide variant Cohen syndrome [RCV003018613]|VPS13B-related disorder [RCV004744527] Chr8:99817563 [GRCh38]
Chr8:100829791 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742+9dup duplication Cohen syndrome [RCV002736765] Chr8:99835329..99835330 [GRCh38]
Chr8:100847557..100847558 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4056C>T (p.Val1352=) single nucleotide variant Cohen syndrome [RCV002979236] Chr8:99502849 [GRCh38]
Chr8:100515077 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4225A>G (p.Asn1409Asp) single nucleotide variant Cohen syndrome [RCV002761227] Chr8:99507837 [GRCh38]
Chr8:100520065 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4926C>G (p.Ala1642=) single nucleotide variant Cohen syndrome [RCV003002321] Chr8:99556630 [GRCh38]
Chr8:100568858 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11167G>A (p.Gly3723Ser) single nucleotide variant Cohen syndrome [RCV003039046] Chr8:99861898 [GRCh38]
Chr8:100874126 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala) single nucleotide variant Cohen syndrome [RCV002909661]|VPS13B-related disorder [RCV003961201] Chr8:99134716 [GRCh38]
Chr8:100146944 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.794C>G (p.Ser265Cys) single nucleotide variant Inborn genetic diseases [RCV002822386] Chr8:99115731 [GRCh38]
Chr8:100127959 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+620_4224+622del deletion Cohen syndrome [RCV003093331]|Inborn genetic diseases [RCV003079627] Chr8:99507823..99507825 [GRCh38]
Chr8:100520051..100520053 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1227G>A (p.Glu409=) single nucleotide variant Cohen syndrome [RCV002760845] Chr8:99134652 [GRCh38]
Chr8:100146880 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs) deletion Cohen syndrome [RCV002736327] Chr8:99835220 [GRCh38]
Chr8:100847448 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11216-19A>G single nucleotide variant Cohen syndrome [RCV002885055] Chr8:99868270 [GRCh38]
Chr8:100880498 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9808T>C (p.Tyr3270His) single nucleotide variant Inborn genetic diseases [RCV002910408] Chr8:99835604 [GRCh38]
Chr8:100847832 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1324T>G (p.Phe442Val) single nucleotide variant Cohen syndrome [RCV003037662] Chr8:99135036 [GRCh38]
Chr8:100147264 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10169C>G (p.Thr3390Arg) single nucleotide variant Cohen syndrome [RCV003037663] Chr8:99853558 [GRCh38]
Chr8:100865786 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4268C>A (p.Pro1423His) single nucleotide variant Cohen syndrome [RCV003053082] Chr8:99507880 [GRCh38]
Chr8:100520108 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3909A>G (p.Ser1303=) single nucleotide variant Cohen syndrome [RCV002620934] Chr8:99501725 [GRCh38]
Chr8:100513953 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2146A>C (p.Ser716Arg) single nucleotide variant Cohen syndrome [RCV003037930] Chr8:99156681 [GRCh38]
Chr8:100168909 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.988G>A (p.Gly330Ser) single nucleotide variant Cohen syndrome [RCV002927196] Chr8:99121227 [GRCh38]
Chr8:100133455 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6969C>T (p.Thr2323=) single nucleotide variant Cohen syndrome [RCV002889362] Chr8:99720966 [GRCh38]
Chr8:100733194 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9807G>A (p.Leu3269=) single nucleotide variant Cohen syndrome [RCV002706045] Chr8:99835603 [GRCh38]
Chr8:100847831 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11215+19T>C single nucleotide variant Cohen syndrome [RCV002592062] Chr8:99861965 [GRCh38]
Chr8:100874193 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10644A>G (p.Thr3548=) single nucleotide variant Cohen syndrome [RCV002848057] Chr8:99854033 [GRCh38]
Chr8:100866261 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9184-9_9184-5del deletion Cohen syndrome [RCV003018710] Chr8:99823821..99823825 [GRCh38]
Chr8:100836049..100836053 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2274del (p.Val759fs) deletion Cohen syndrome [RCV002949280] Chr8:99170104 [GRCh38]
Chr8:100182332 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2651-18A>G single nucleotide variant Cohen syndrome [RCV002620204] Chr8:99275063 [GRCh38]
Chr8:100287291 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-13A>T single nucleotide variant Cohen syndrome [RCV002638045] Chr8:99821281 [GRCh38]
Chr8:100833509 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7050+18A>G single nucleotide variant Cohen syndrome [RCV002638523] Chr8:99721065 [GRCh38]
Chr8:100733293 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu) single nucleotide variant Cohen syndrome [RCV002913012]|VPS13B-related disorder [RCV004744468]|not provided [RCV003159237] Chr8:99511371 [GRCh38]
Chr8:100523599 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9981T>C (p.Asp3327=) single nucleotide variant Cohen syndrome [RCV002847882] Chr8:99848814 [GRCh38]
Chr8:100861042 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs) duplication Cohen syndrome [RCV002999762] Chr8:99875565..99875566 [GRCh38]
Chr8:100887793..100887794 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10232T>G (p.Val3411Gly) single nucleotide variant Cohen syndrome [RCV002927585] Chr8:99853621 [GRCh38]
Chr8:100865849 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6806A>T (p.Lys2269Ile) single nucleotide variant Cohen syndrome [RCV002976367] Chr8:99720493 [GRCh38]
Chr8:100732721 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11097C>T (p.Asp3699=) single nucleotide variant Cohen syndrome [RCV002867677] Chr8:99861828 [GRCh38]
Chr8:100874056 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1040C>T (p.Ser347Leu) single nucleotide variant Cohen syndrome [RCV003002040] Chr8:99121279 [GRCh38]
Chr8:100133507 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2013+19T>C single nucleotide variant Cohen syndrome [RCV002691237] Chr8:99148029 [GRCh38]
Chr8:100160257 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11199G>A (p.Leu3733=) single nucleotide variant Cohen syndrome [RCV002705656] Chr8:99861930 [GRCh38]
Chr8:100874158 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val) single nucleotide variant Cohen syndrome [RCV002912814]|VPS13B-related disorder [RCV003395529] Chr8:99431569 [GRCh38]
Chr8:100443797 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.123G>A (p.Glu41=) single nucleotide variant Cohen syndrome [RCV003080427] Chr8:99013911 [GRCh38]
Chr8:100026139 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs) duplication Cohen syndrome [RCV002885205] Chr8:99853597..99853598 [GRCh38]
Chr8:100865825..100865826 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5700A>T (p.Thr1900=) single nucleotide variant Cohen syndrome [RCV002923320] Chr8:99642290 [GRCh38]
Chr8:100654518 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3852C>T (p.Asp1284=) single nucleotide variant Cohen syndrome [RCV002867157] Chr8:99481784 [GRCh38]
Chr8:100494012 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3211-3T>C single nucleotide variant Inborn genetic diseases [RCV002821270]|VPS13B-related disorder [RCV004741516] Chr8:99442398 [GRCh38]
Chr8:100454626 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.1248G>A (p.Gln416=) single nucleotide variant Cohen syndrome [RCV003019072] Chr8:99134673 [GRCh38]
Chr8:100146901 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4157+2T>G single nucleotide variant Cohen syndrome [RCV002999802] Chr8:99502952 [GRCh38]
Chr8:100515180 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln) single nucleotide variant Cohen syndrome [RCV002912833]|VPS13B-related disorder [RCV003409956] Chr8:99642436 [GRCh38]
Chr8:100654664 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8133C>T (p.Tyr2711=) single nucleotide variant Cohen syndrome [RCV003077925] Chr8:99817575 [GRCh38]
Chr8:100829803 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6422G>C (p.Ser2141Thr) single nucleotide variant Cohen syndrome [RCV002979669] Chr8:99699900 [GRCh38]
Chr8:100712128 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10181T>G (p.Ile3394Ser) single nucleotide variant Cohen syndrome [RCV003080452] Chr8:99853570 [GRCh38]
Chr8:100865798 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11364T>G (p.Ala3788=) single nucleotide variant Cohen syndrome [RCV002866554] Chr8:99868437 [GRCh38]
Chr8:100880665 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10104G>C (p.Gln3368His) single nucleotide variant Cohen syndrome [RCV003019113] Chr8:99853493 [GRCh38]
Chr8:100865721 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8035T>C (p.Tyr2679His) single nucleotide variant Cohen syndrome [RCV002797189] Chr8:99809468 [GRCh38]
Chr8:100821696 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9332A>G (p.Tyr3111Cys) single nucleotide variant Cohen syndrome [RCV002761184] Chr8:99832370 [GRCh38]
Chr8:100844598 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6900A>G (p.Leu2300=) single nucleotide variant Cohen syndrome [RCV002927091] Chr8:99720897 [GRCh38]
Chr8:100733125 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5688T>G (p.Leu1896=) single nucleotide variant Cohen syndrome [RCV002866180] Chr8:99642278 [GRCh38]
Chr8:100654506 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8266C>G (p.Leu2756Val) single nucleotide variant Cohen syndrome [RCV002923693]|VPS13B-related disorder [RCV004744492] Chr8:99817708 [GRCh38]
Chr8:100829936 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter) single nucleotide variant Cohen syndrome [RCV002620331] Chr8:99134689 [GRCh38]
Chr8:100146917 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11496-17T>G single nucleotide variant Cohen syndrome [RCV002846644] Chr8:99871431 [GRCh38]
Chr8:100883659 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+17G>A single nucleotide variant Cohen syndrome [RCV003080283] Chr8:99121462 [GRCh38]
Chr8:100133690 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4745+9A>G single nucleotide variant Cohen syndrome [RCV003021288] Chr8:99521019 [GRCh38]
Chr8:100533247 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+14T>C single nucleotide variant Cohen syndrome [RCV003078304] Chr8:99135747 [GRCh38]
Chr8:100147975 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5589C>G (p.Asn1863Lys) single nucleotide variant Cohen syndrome [RCV003019854] Chr8:99642179 [GRCh38]
Chr8:100654407 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9856C>G (p.Pro3286Ala) single nucleotide variant Cohen syndrome [RCV002760352] Chr8:99835652 [GRCh38]
Chr8:100847880 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8205A>G (p.Glu2735=) single nucleotide variant Cohen syndrome [RCV002662384] Chr8:99817647 [GRCh38]
Chr8:100829875 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11880T>C (p.Pro3960=) single nucleotide variant Cohen syndrome [RCV002866631] Chr8:99875552 [GRCh38]
Chr8:100887780 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+8A>T single nucleotide variant Cohen syndrome [RCV002659377] Chr8:99661499 [GRCh38]
Chr8:100673727 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-20C>A single nucleotide variant Cohen syndrome [RCV002761226] Chr8:99853431 [GRCh38]
Chr8:100865659 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7989G>A (p.Glu2663=) single nucleotide variant Cohen syndrome [RCV002847806] Chr8:99809422 [GRCh38]
Chr8:100821650 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+5G>A single nucleotide variant Cohen syndrome [RCV002780346] Chr8:99835329 [GRCh38]
Chr8:100847557 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6455-20_6455-12del deletion Cohen syndrome [RCV002885340] Chr8:99717150..99717158 [GRCh38]
Chr8:100729378..100729386 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5489C>T (p.Ala1830Val) single nucleotide variant Cohen syndrome [RCV002909367] Chr8:99642079 [GRCh38]
Chr8:100654307 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6539T>G (p.Ile2180Arg) single nucleotide variant Cohen syndrome [RCV003036185] Chr8:99717255 [GRCh38]
Chr8:100729483 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4526T>C (p.Met1509Thr) single nucleotide variant Cohen syndrome [RCV002705972] Chr8:99511405 [GRCh38]
Chr8:100523633 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6658-13dup duplication Cohen syndrome [RCV002979248] Chr8:99720325..99720326 [GRCh38]
Chr8:100732553..100732554 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.6165A>G (p.Glu2055=) single nucleotide variant Cohen syndrome [RCV002979908]|not provided [RCV004725445] Chr8:99699643 [GRCh38]
Chr8:100711871 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8792+7T>C single nucleotide variant Cohen syndrome [RCV003055267] Chr8:99819589 [GRCh38]
Chr8:100831817 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11702T>C (p.Leu3901Pro) single nucleotide variant Cohen syndrome [RCV003018019] Chr8:99871654 [GRCh38]
Chr8:100883882 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2738G>T (p.Ser913Ile) single nucleotide variant Cohen syndrome [RCV003078885] Chr8:99275168 [GRCh38]
Chr8:100287396 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8745A>G (p.Glu2915=) single nucleotide variant Cohen syndrome [RCV002761626] Chr8:99819535 [GRCh38]
Chr8:100831763 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4886G>C (p.Gly1629Ala) single nucleotide variant Cohen syndrome [RCV002592041] Chr8:99556590 [GRCh38]
Chr8:100568818 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10867+9A>C single nucleotide variant Cohen syndrome [RCV002848215] Chr8:99854265 [GRCh38]
Chr8:100866493 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2603G>A (p.Cys868Tyr) single nucleotide variant Cohen syndrome [RCV003020158] Chr8:99274285 [GRCh38]
Chr8:100286513 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8893C>T (p.Leu2965=) single nucleotide variant Cohen syndrome [RCV002884937] Chr8:99820021 [GRCh38]
Chr8:100832249 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5583G>A (p.Lys1861=) single nucleotide variant Cohen syndrome [RCV002867826] Chr8:99642173 [GRCh38]
Chr8:100654401 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.862G>A (p.Glu288Lys) single nucleotide variant Cohen syndrome [RCV003019689]|VPS13B-related disorder [RCV004744531] Chr8:99115799 [GRCh38]
Chr8:100128027 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6543A>T (p.Gly2181=) single nucleotide variant Cohen syndrome [RCV002570203] Chr8:99717259 [GRCh38]
Chr8:100729487 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2607C>G (p.Ala869=) single nucleotide variant Cohen syndrome [RCV002780686] Chr8:99274289 [GRCh38]
Chr8:100286517 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10159C>G (p.Leu3387Val) single nucleotide variant Cohen syndrome [RCV002736037] Chr8:99853548 [GRCh38]
Chr8:100865776 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9756T>G (p.Phe3252Leu) single nucleotide variant Cohen syndrome [RCV002999722] Chr8:99835552 [GRCh38]
Chr8:100847780 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9105T>C (p.Asn3035=) single nucleotide variant Cohen syndrome [RCV002797101]|VPS13B-related disorder [RCV004744451] Chr8:99821404 [GRCh38]
Chr8:100833632 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-6C>T single nucleotide variant Cohen syndrome [RCV003037963] Chr8:99577484 [GRCh38]
Chr8:100589712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9210G>T (p.Met3070Ile) single nucleotide variant Inborn genetic diseases [RCV002887576] Chr8:99823858 [GRCh38]
Chr8:100836086 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11047A>G (p.Thr3683Ala) single nucleotide variant Cohen syndrome [RCV002927442]|Inborn genetic diseases [RCV004681567] Chr8:99861778 [GRCh38]
Chr8:100874006 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9699C>A (p.His3233Gln) single nucleotide variant Cohen syndrome [RCV002824941] Chr8:99835281 [GRCh38]
Chr8:100847509 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs) deletion Cohen syndrome [RCV002889324] Chr8:99720383..99720384 [GRCh38]
Chr8:100732611..100732612 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11659A>G (p.Thr3887Ala) single nucleotide variant Cohen syndrome [RCV002820746] Chr8:99871611 [GRCh38]
Chr8:100883839 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs) microsatellite Cohen syndrome [RCV002780826] Chr8:99391652..99391653 [GRCh38]
Chr8:100403880..100403881 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4241T>C (p.Leu1414Pro) single nucleotide variant Cohen syndrome [RCV002735557] Chr8:99511120 [GRCh38]
Chr8:100523348 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11925T>G (p.His3975Gln) single nucleotide variant Inborn genetic diseases [RCV002925122] Chr8:99875597 [GRCh38]
Chr8:100887825 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4745+18T>A single nucleotide variant Cohen syndrome [RCV002761164] Chr8:99521028 [GRCh38]
Chr8:100533256 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-12dup duplication Cohen syndrome [RCV002952587] Chr8:99102934..99102935 [GRCh38]
Chr8:100115162..100115163 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.10974C>A (p.Thr3658=) single nucleotide variant Cohen syndrome [RCV003036804] Chr8:99859410 [GRCh38]
Chr8:100871638 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11393-6C>A single nucleotide variant Cohen syndrome [RCV003036805] Chr8:99870779 [GRCh38]
Chr8:100883007 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-9T>G single nucleotide variant Cohen syndrome [RCV003035988] Chr8:99832360 [GRCh38]
Chr8:100844588 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6513T>A (p.Ser2171Arg) single nucleotide variant Cohen syndrome [RCV002690590] Chr8:99717229 [GRCh38]
Chr8:100729457 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5220+16T>G single nucleotide variant Cohen syndrome [RCV003077942] Chr8:99577649 [GRCh38]
Chr8:100589877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7305C>T (p.Ala2435=) single nucleotide variant Cohen syndrome [RCV002867717] Chr8:99776832 [GRCh38]
Chr8:100789060 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10787G>T (p.Arg3596Ile) single nucleotide variant Cohen syndrome [RCV002706151] Chr8:99854176 [GRCh38]
Chr8:100866404 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11967_11970del (p.Asn3989fs) deletion Cohen syndrome [RCV002913850]|VPS13B-related disorder [RCV004744470] Chr8:99875636..99875639 [GRCh38]
Chr8:100887864..100887867 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7854G>T (p.Arg2618=) single nucleotide variant Cohen syndrome [RCV002820924] Chr8:99784389 [GRCh38]
Chr8:100796617 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5922T>C (p.Thr1974=) single nucleotide variant Cohen syndrome [RCV003077255] Chr8:99661367 [GRCh38]
Chr8:100673595 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11243C>T (p.Pro3748Leu) single nucleotide variant Cohen syndrome [RCV003037111] Chr8:99868316 [GRCh38]
Chr8:100880544 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter) single nucleotide variant Cohen syndrome [RCV002591987]|VPS13B-related disorder [RCV004744602] Chr8:99134686 [GRCh38]
Chr8:100146914 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.581-4T>G single nucleotide variant Cohen syndrome [RCV002870979] Chr8:99111094 [GRCh38]
Chr8:100123322 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4348C>T (p.His1450Tyr) single nucleotide variant Cohen syndrome [RCV002619776] Chr8:99511227 [GRCh38]
Chr8:100523455 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2776G>A (p.Ala926Thr) single nucleotide variant Cohen syndrome [RCV002636427] Chr8:99275206 [GRCh38]
Chr8:100287434 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6257A>G (p.His2086Arg) single nucleotide variant Cohen syndrome [RCV003018599] Chr8:99699735 [GRCh38]
Chr8:100711963 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6573T>C (p.Ala2191=) single nucleotide variant Cohen syndrome [RCV002659333] Chr8:99717289 [GRCh38]
Chr8:100729517 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1064C>A (p.Ala355Glu) single nucleotide variant Cohen syndrome [RCV002666802]|VPS13B-related disorder [RCV004744402] Chr8:99121303 [GRCh38]
Chr8:100133531 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His) single nucleotide variant Cohen syndrome [RCV002667911]|Inborn genetic diseases [RCV003357973] Chr8:99511431 [GRCh38]
Chr8:100523659 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2811C>T (p.Tyr937=) single nucleotide variant Cohen syndrome [RCV003059135] Chr8:99275241 [GRCh38]
Chr8:100287469 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3897A>G (p.Glu1299=) single nucleotide variant Cohen syndrome [RCV003058557] Chr8:99501713 [GRCh38]
Chr8:100513941 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+15A>C single nucleotide variant Cohen syndrome [RCV002666965] Chr8:99818549 [GRCh38]
Chr8:100830777 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4206T>C (p.Leu1402=) single nucleotide variant Cohen syndrome [RCV002711888] Chr8:99507818 [GRCh38]
Chr8:100520046 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter) single nucleotide variant Cohen syndrome [RCV002626691] Chr8:99854025 [GRCh38]
Chr8:100866253 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5871T>C (p.Ala1957=) single nucleotide variant Cohen syndrome [RCV003059223] Chr8:99642461 [GRCh38]
Chr8:100654689 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+20del deletion Cohen syndrome [RCV003085764] Chr8:99854274 [GRCh38]
Chr8:100866502 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11094G>A (p.Met3698Ile) single nucleotide variant Cohen syndrome [RCV002957908] Chr8:99861825 [GRCh38]
Chr8:100874053 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3294A>C (p.Gly1098=) single nucleotide variant Cohen syndrome [RCV003007677] Chr8:99442484 [GRCh38]
Chr8:100454712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4147T>C (p.Tyr1383His) single nucleotide variant Cohen syndrome [RCV003024381] Chr8:99502940 [GRCh38]
Chr8:100515168 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7696A>G (p.Thr2566Ala) single nucleotide variant Cohen syndrome [RCV003085768]|Inborn genetic diseases [RCV004071752] Chr8:99778948 [GRCh38]
Chr8:100791176 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11775G>A (p.Glu3925=) single nucleotide variant Cohen syndrome [RCV002805794] Chr8:99875447 [GRCh38]
Chr8:100887675 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11581G>A (p.Gly3861Arg) single nucleotide variant Inborn genetic diseases [RCV002915616] Chr8:99871533 [GRCh38]
Chr8:100883761 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8630A>G (p.Tyr2877Cys) single nucleotide variant Inborn genetic diseases [RCV002743311] Chr8:99819420 [GRCh38]
Chr8:100831648 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5580T>G (p.Ala1860=) single nucleotide variant Cohen syndrome [RCV003042490] Chr8:99642170 [GRCh38]
Chr8:100654398 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7406A>G (p.His2469Arg) single nucleotide variant Cohen syndrome [RCV002668069] Chr8:99776933 [GRCh38]
Chr8:100789161 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5199A>G (p.Glu1733=) single nucleotide variant Cohen syndrome [RCV002982826] Chr8:99577612 [GRCh38]
Chr8:100589840 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter) single nucleotide variant Cohen syndrome [RCV003041013] Chr8:99861889 [GRCh38]
Chr8:100874117 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2824+4A>G single nucleotide variant Cohen syndrome [RCV003085968] Chr8:99275258 [GRCh38]
Chr8:100287486 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs) duplication Cohen syndrome [RCV002894074] Chr8:99717267..99717268 [GRCh38]
Chr8:100729495..100729496 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2178T>C (p.Leu726=) single nucleotide variant Cohen syndrome [RCV002982830] Chr8:99156713 [GRCh38]
Chr8:100168941 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1911T>C (p.Pro637=) single nucleotide variant Cohen syndrome [RCV002853051] Chr8:99147908 [GRCh38]
Chr8:100160136 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5649T>C (p.Pro1883=) single nucleotide variant Cohen syndrome [RCV002895166] Chr8:99642239 [GRCh38]
Chr8:100654467 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11216-3C>G single nucleotide variant Cohen syndrome [RCV002875803] Chr8:99868286 [GRCh38]
Chr8:100880514 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9294A>C (p.Pro3098=) single nucleotide variant Cohen syndrome [RCV002894101] Chr8:99823942 [GRCh38]
Chr8:100836170 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6760C>T (p.Pro2254Ser) single nucleotide variant Cohen syndrome [RCV002876724] Chr8:99720447 [GRCh38]
Chr8:100732675 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11991T>C (p.Pro3997=) single nucleotide variant Cohen syndrome [RCV002876302] Chr8:99875663 [GRCh38]
Chr8:100887891 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2832A>G (p.Val944=) single nucleotide variant Cohen syndrome [RCV002575951] Chr8:99384215 [GRCh38]
Chr8:100396443 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1680A>G (p.Ser560=) single nucleotide variant Cohen syndrome [RCV003043682] Chr8:99143002 [GRCh38]
Chr8:100155230 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9409C>G (p.Pro3137Ala) single nucleotide variant Cohen syndrome [RCV003007894] Chr8:99832447 [GRCh38]
Chr8:100844675 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3445+11A>C single nucleotide variant Cohen syndrome [RCV002830152] Chr8:99442646 [GRCh38]
Chr8:100454874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.761A>G (p.Lys254Arg) single nucleotide variant Cohen syndrome [RCV002890392] Chr8:99111278 [GRCh38]
Chr8:100123506 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4634C>T (p.Ala1545Val) single nucleotide variant Inborn genetic diseases [RCV002874963] Chr8:99520899 [GRCh38]
Chr8:100533127 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4151G>T (p.Arg1384Ile) single nucleotide variant Cohen syndrome [RCV003059410] Chr8:99502944 [GRCh38]
Chr8:100515172 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7200T>G (p.Leu2400=) single nucleotide variant Cohen syndrome [RCV002745500] Chr8:99766923 [GRCh38]
Chr8:100779151 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn) single nucleotide variant Cohen syndrome [RCV002918562]|Inborn genetic diseases [RCV003167932] Chr8:99717209 [GRCh38]
Chr8:100729437 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515G>C (p.Gly839Arg) single nucleotide variant Cohen syndrome [RCV002872590] Chr8:99193057 [GRCh38]
Chr8:100205285 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4957C>T (p.Arg1653Trp) single nucleotide variant Cohen syndrome [RCV002624828] Chr8:99575665 [GRCh38]
Chr8:100587893 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3599G>A (p.Arg1200Gln) single nucleotide variant Cohen syndrome [RCV002644348] Chr8:99467567 [GRCh38]
Chr8:100479795 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1412A>G (p.Asn471Ser) single nucleotide variant Cohen syndrome [RCV002800586] Chr8:99135124 [GRCh38]
Chr8:100147352 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.997T>C (p.Leu333=) single nucleotide variant Cohen syndrome [RCV002876582] Chr8:99121236 [GRCh38]
Chr8:100133464 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4548C>T (p.Ser1516=) single nucleotide variant Cohen syndrome [RCV003059665] Chr8:99511427 [GRCh38]
Chr8:100523655 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5234A>G (p.Glu1745Gly) single nucleotide variant Cohen syndrome [RCV003006518] Chr8:99641824 [GRCh38]
Chr8:100654052 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5106A>G (p.Glu1702=) single nucleotide variant Cohen syndrome [RCV003085820] Chr8:99577519 [GRCh38]
Chr8:100589747 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9760G>A (p.Val3254Ile) single nucleotide variant Cohen syndrome [RCV002745603] Chr8:99835556 [GRCh38]
Chr8:100847784 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+7G>A single nucleotide variant Cohen syndrome [RCV003059599] Chr8:99193064 [GRCh38]
Chr8:100205292 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5065T>A (p.Leu1689Met) single nucleotide variant Cohen syndrome [RCV002957695]|VPS13B-related disorder [RCV004744491] Chr8:99575773 [GRCh38]
Chr8:100588001 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs) deletion Cohen syndrome [RCV003059619] Chr8:99642021 [GRCh38]
Chr8:100654249 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1845T>C (p.Asp615=) single nucleotide variant Cohen syndrome [RCV003085724] Chr8:99147842 [GRCh38]
Chr8:100160070 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4465A>G (p.Ile1489Val) single nucleotide variant Inborn genetic diseases [RCV002640808] Chr8:99511344 [GRCh38]
Chr8:100523572 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3252C>A (p.Ser1084Arg) single nucleotide variant Cohen syndrome [RCV002890569] Chr8:99442442 [GRCh38]
Chr8:100454670 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter) single nucleotide variant Cohen syndrome [RCV002574473] Chr8:99121211 [GRCh38]
Chr8:100133439 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11216-10G>A single nucleotide variant Cohen syndrome [RCV003025944] Chr8:99868279 [GRCh38]
Chr8:100880507 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7101A>G (p.Ala2367=) single nucleotide variant Cohen syndrome [RCV002790748] Chr8:99766824 [GRCh38]
Chr8:100779052 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10563C>T (p.Asp3521=) single nucleotide variant Cohen syndrome [RCV002894853] Chr8:99853952 [GRCh38]
Chr8:100866180 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6226T>C (p.Tyr2076His) single nucleotide variant Cohen syndrome [RCV003040249] Chr8:99699704 [GRCh38]
Chr8:100711932 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1626T>C (p.Tyr542=) single nucleotide variant Cohen syndrome [RCV002801281] Chr8:99136727 [GRCh38]
Chr8:100148955 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp) single nucleotide variant Cohen syndrome [RCV002891025]|VPS13B-related disorder [RCV003427514]|not provided [RCV005054425] Chr8:99575662 [GRCh38]
Chr8:100587890 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10633A>C (p.Met3545Leu) single nucleotide variant Cohen syndrome [RCV002666657] Chr8:99854022 [GRCh38]
Chr8:100866250 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11264C>T (p.Thr3755Ile) single nucleotide variant Cohen syndrome [RCV002829124] Chr8:99868337 [GRCh38]
Chr8:100880565 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1087G>C (p.Glu363Gln) single nucleotide variant Cohen syndrome [RCV002828483] Chr8:99121326 [GRCh38]
Chr8:100133554 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10030A>G (p.Lys3344Glu) single nucleotide variant Cohen syndrome [RCV002624926] Chr8:99848863 [GRCh38]
Chr8:100861091 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2934+8A>T single nucleotide variant Cohen syndrome [RCV002765654] Chr8:99384325 [GRCh38]
Chr8:100396553 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10743C>T (p.Tyr3581=) single nucleotide variant Cohen syndrome [RCV002574981] Chr8:99854132 [GRCh38]
Chr8:100866360 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.120C>G (p.Leu40=) single nucleotide variant Cohen syndrome [RCV002594248] Chr8:99013908 [GRCh38]
Chr8:100026136 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2723del (p.Lys908fs) deletion Cohen syndrome [RCV003022992] Chr8:99275152 [GRCh38]
Chr8:100287380 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1442T>C (p.Ile481Thr) single nucleotide variant Cohen syndrome [RCV002574318] Chr8:99135612 [GRCh38]
Chr8:100147840 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs) deletion Cohen syndrome [RCV002890106] Chr8:99699889 [GRCh38]
Chr8:100712117 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs) deletion Cohen syndrome [RCV003023446] Chr8:99642189 [GRCh38]
Chr8:100654417 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1260T>C (p.Ser420=) single nucleotide variant Cohen syndrome [RCV002890345] Chr8:99134685 [GRCh38]
Chr8:100146913 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs) deletion Cohen syndrome [RCV003057173] Chr8:99642309 [GRCh38]
Chr8:100654537 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11392G>A (p.Gly3798Ser) single nucleotide variant Cohen syndrome [RCV003082312] Chr8:99868465 [GRCh38]
Chr8:100880693 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11944A>C (p.Ser3982Arg) single nucleotide variant Cohen syndrome [RCV003057482] Chr8:99875616 [GRCh38]
Chr8:100887844 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7106G>A (p.Arg2369Lys) single nucleotide variant Cohen syndrome [RCV003023481] Chr8:99766829 [GRCh38]
Chr8:100779057 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7552T>C (p.Cys2518Arg) single nucleotide variant Cohen syndrome [RCV003082598] Chr8:99778804 [GRCh38]
Chr8:100791032 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7527T>A (p.Leu2509=) single nucleotide variant Cohen syndrome [RCV003022157] Chr8:99778779 [GRCh38]
Chr8:100791007 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.684A>G (p.Leu228=) single nucleotide variant Cohen syndrome [RCV002642381] Chr8:99111201 [GRCh38]
Chr8:100123429 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.516T>C (p.Asn172=) single nucleotide variant Cohen syndrome [RCV002766369] Chr8:99103056 [GRCh38]
Chr8:100115284 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2903C>T (p.Pro968Leu) single nucleotide variant Cohen syndrome [RCV003083847] Chr8:99384286 [GRCh38]
Chr8:100396514 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11044+8G>T single nucleotide variant Cohen syndrome [RCV003040223] Chr8:99859488 [GRCh38]
Chr8:100871716 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11392+17C>A single nucleotide variant Cohen syndrome [RCV002623353] Chr8:99868482 [GRCh38]
Chr8:100880710 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5997T>C (p.Ile1999=) single nucleotide variant Cohen syndrome [RCV002745604] Chr8:99661442 [GRCh38]
Chr8:100673670 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6330T>C (p.Ser2110=) single nucleotide variant Cohen syndrome [RCV003040252] Chr8:99699808 [GRCh38]
Chr8:100712036 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7248-6C>T single nucleotide variant Cohen syndrome [RCV003083188] Chr8:99776769 [GRCh38]
Chr8:100788997 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1969T>C (p.Phe657Leu) single nucleotide variant Cohen syndrome [RCV003057859] Chr8:99147966 [GRCh38]
Chr8:100160194 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8593C>T (p.Leu2865Phe) single nucleotide variant Cohen syndrome [RCV002667288] Chr8:99818860 [GRCh38]
Chr8:100831088 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5475C>T (p.Thr1825=) single nucleotide variant Cohen syndrome [RCV003043053] Chr8:99642065 [GRCh38]
Chr8:100654293 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10376T>C (p.Met3459Thr) single nucleotide variant Cohen syndrome [RCV002624168]|VPS13B-related disorder [RCV004744622] Chr8:99853765 [GRCh38]
Chr8:100865993 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8592C>T (p.Asp2864=) single nucleotide variant Cohen syndrome [RCV002918023] Chr8:99818859 [GRCh38]
Chr8:100831087 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.127A>C (p.Lys43Gln) single nucleotide variant Cohen syndrome [RCV002805302] Chr8:99013915 [GRCh38]
Chr8:100026143 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1516A>T (p.Asn506Tyr) single nucleotide variant Cohen syndrome [RCV003025990] Chr8:99135686 [GRCh38]
Chr8:100147914 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9974A>G (p.Tyr3325Cys) single nucleotide variant Cohen syndrome [RCV003083697] Chr8:99848807 [GRCh38]
Chr8:100861035 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7941+9G>A single nucleotide variant Cohen syndrome [RCV002893978] Chr8:99784485 [GRCh38]
Chr8:100796713 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3666+8C>T single nucleotide variant Cohen syndrome [RCV002624713] Chr8:99467642 [GRCh38]
Chr8:100479870 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5886G>A (p.Val1962=) single nucleotide variant Cohen syndrome [RCV003043413] Chr8:99642476 [GRCh38]
Chr8:100654704 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp) single nucleotide variant Cohen syndrome [RCV002664101]|VPS13B-related disorder [RCV003900875] Chr8:99784387 [GRCh38]
Chr8:100796615 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1826A>T (p.Tyr609Phe) single nucleotide variant Cohen syndrome [RCV002801972] Chr8:99143148 [GRCh38]
Chr8:100155376 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10133C>T (p.Thr3378Ile) single nucleotide variant Inborn genetic diseases [RCV002931161] Chr8:99853522 [GRCh38]
Chr8:100865750 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3023A>G (p.Gln1008Arg) single nucleotide variant Cohen syndrome [RCV002958736]|VPS13B-related disorder [RCV004725429] Chr8:99391645 [GRCh38]
Chr8:100403873 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1A>T (p.Met1Leu) single nucleotide variant Cohen syndrome [RCV002876465] Chr8:99013789 [GRCh38]
Chr8:100026017 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5637C>T (p.Ser1879=) single nucleotide variant Cohen syndrome [RCV002828976] Chr8:99642227 [GRCh38]
Chr8:100654455 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln) single nucleotide variant Cohen syndrome [RCV002957690]|not specified [RCV003155498] Chr8:99511216 [GRCh38]
Chr8:100523444 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6330del (p.Val2111fs) deletion Cohen syndrome [RCV002890101] Chr8:99699808 [GRCh38]
Chr8:100712036 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11437C>T (p.His3813Tyr) single nucleotide variant Cohen syndrome [RCV002890381] Chr8:99870829 [GRCh38]
Chr8:100883057 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4172G>A (p.Cys1391Tyr) single nucleotide variant Inborn genetic diseases [RCV002828035] Chr8:99507784 [GRCh38]
Chr8:100520012 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11355C>A (p.Ile3785=) single nucleotide variant Cohen syndrome [RCV002766025] Chr8:99868428 [GRCh38]
Chr8:100880656 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6018A>G (p.Leu2006=) single nucleotide variant Cohen syndrome [RCV002766282] Chr8:99661463 [GRCh38]
Chr8:100673691 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-4A>T single nucleotide variant Cohen syndrome [RCV002596612]|VPS13B-related disorder [RCV004744382] Chr8:99135011 [GRCh38]
Chr8:100147239 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg) single nucleotide variant Cohen syndrome [RCV002933089]|Inborn genetic diseases [RCV004966186]|VPS13B-related disorder [RCV004744483] Chr8:99853830 [GRCh38]
Chr8:100866058 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7446A>G (p.Leu2482=) single nucleotide variant Cohen syndrome [RCV002745640] Chr8:99778698 [GRCh38]
Chr8:100790926 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10533A>C (p.Thr3511=) single nucleotide variant Cohen syndrome [RCV002624279] Chr8:99853922 [GRCh38]
Chr8:100866150 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1894C>G (p.Leu632Val) single nucleotide variant Cohen syndrome [RCV002828531] Chr8:99147891 [GRCh38]
Chr8:100160119 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7033C>G (p.Leu2345Val) single nucleotide variant Cohen syndrome [RCV003024525] Chr8:99721030 [GRCh38]
Chr8:100733258 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2336C>T (p.Thr779Ile) single nucleotide variant Cohen syndrome [RCV003085741] Chr8:99192878 [GRCh38]
Chr8:100205106 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs) duplication Cohen syndrome [RCV002871847] Chr8:99641978..99641979 [GRCh38]
Chr8:100654206..100654207 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5463C>G (p.Ile1821Met) single nucleotide variant Cohen syndrome [RCV002932376] Chr8:99642053 [GRCh38]
Chr8:100654281 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11181_11215+10del deletion Cohen syndrome [RCV002830168] Chr8:99861912..99861956 [GRCh38]
Chr8:100874140..100874184 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5221A>T (p.Ile1741Phe) single nucleotide variant Cohen syndrome [RCV002958875] Chr8:99641811 [GRCh38]
Chr8:100654039 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.412+20A>G single nucleotide variant Cohen syndrome [RCV002917167] Chr8:99096452 [GRCh38]
Chr8:100108680 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11076A>G (p.Thr3692=) single nucleotide variant Cohen syndrome [RCV003025513] Chr8:99861807 [GRCh38]
Chr8:100874035 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8870T>C (p.Leu2957Ser) single nucleotide variant Cohen syndrome [RCV003039922] Chr8:99819998 [GRCh38]
Chr8:100832226 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7247+19A>G single nucleotide variant Cohen syndrome [RCV002624336] Chr8:99766989 [GRCh38]
Chr8:100779217 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10095C>T (p.Phe3365=) single nucleotide variant Cohen syndrome [RCV003040932] Chr8:99853484 [GRCh38]
Chr8:100865712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11044+5C>G single nucleotide variant Cohen syndrome [RCV003083601] Chr8:99859485 [GRCh38]
Chr8:100871713 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3667-16T>C single nucleotide variant Cohen syndrome [RCV002625326] Chr8:99481583 [GRCh38]
Chr8:100493811 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4995G>A (p.Leu1665=) single nucleotide variant Cohen syndrome [RCV003082370]|VPS13B-related disorder [RCV004744580] Chr8:99575703 [GRCh38]
Chr8:100587931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11027T>C (p.Val3676Ala) single nucleotide variant Cohen syndrome [RCV002801623] Chr8:99859463 [GRCh38]
Chr8:100871691 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10039C>T (p.Pro3347Ser) single nucleotide variant Cohen syndrome [RCV003025819] Chr8:99848872 [GRCh38]
Chr8:100861100 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7627G>T (p.Val2543Leu) single nucleotide variant Cohen syndrome [RCV003003356] Chr8:99778879 [GRCh38]
Chr8:100791107 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.121G>C (p.Glu41Gln) single nucleotide variant Cohen syndrome [RCV002572492] Chr8:99013909 [GRCh38]
Chr8:100026137 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1045G>A (p.Ala349Thr) single nucleotide variant Cohen syndrome [RCV003056916] Chr8:99121284 [GRCh38]
Chr8:100133512 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2970T>C (p.Val990=) single nucleotide variant Cohen syndrome [RCV003005550] Chr8:99391592 [GRCh38]
Chr8:100403820 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.937+4A>G single nucleotide variant Cohen syndrome [RCV002643088] Chr8:99115878 [GRCh38]
Chr8:100128106 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11815T>A (p.Ser3939Thr) single nucleotide variant Cohen syndrome [RCV003003378] Chr8:99875487 [GRCh38]
Chr8:100887715 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His) single nucleotide variant Cohen syndrome [RCV003081869]|VPS13B-related disorder [RCV003936529] Chr8:99779031 [GRCh38]
Chr8:100791259 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1773G>A (p.Val591=) single nucleotide variant Cohen syndrome [RCV002928995]|VPS13B-related disorder [RCV004744496] Chr8:99143095 [GRCh38]
Chr8:100155323 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7193C>T (p.Ser2398Leu) single nucleotide variant Inborn genetic diseases [RCV002787551] Chr8:99766916 [GRCh38]
Chr8:100779144 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu) single nucleotide variant Cohen syndrome [RCV003005336]|VPS13B-related disorder [RCV003404006] Chr8:99871638 [GRCh38]
Chr8:100883866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3666+13G>C single nucleotide variant Cohen syndrome [RCV002573766] Chr8:99467647 [GRCh38]
Chr8:100479875 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-3_9331-2insTTTTTTTTTTTGTTTTTT microsatellite Cohen syndrome [RCV003006261] Chr8:99832360..99832361 [GRCh38]
Chr8:100844588..100844589 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9614+8_9614+10del deletion Cohen syndrome [RCV002932486] Chr8:99832660..99832662 [GRCh38]
Chr8:100844888..100844890 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10513C>A (p.Arg3505=) single nucleotide variant Cohen syndrome [RCV002894578] Chr8:99853902 [GRCh38]
Chr8:100866130 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2895C>T (p.Ile965=) single nucleotide variant Cohen syndrome [RCV003022275] Chr8:99384278 [GRCh38]
Chr8:100396506 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9615-16C>T single nucleotide variant Cohen syndrome [RCV002624432] Chr8:99835181 [GRCh38]
Chr8:100847409 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3082+11A>G single nucleotide variant Cohen syndrome [RCV002624906] Chr8:99391715 [GRCh38]
Chr8:100403943 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6988G>T (p.Val2330Leu) single nucleotide variant Cohen syndrome [RCV003083527] Chr8:99720985 [GRCh38]
Chr8:100733213 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3061G>C (p.Val1021Leu) single nucleotide variant Cohen syndrome [RCV003084581] Chr8:99391683 [GRCh38]
Chr8:100403911 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4989C>G (p.Pro1663=) single nucleotide variant Cohen syndrome [RCV002957983] Chr8:99575697 [GRCh38]
Chr8:100587925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8804T>C (p.Leu2935Pro) single nucleotide variant Cohen syndrome [RCV002982661] Chr8:99819932 [GRCh38]
Chr8:100832160 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6996T>C (p.Phe2332=) single nucleotide variant Cohen syndrome [RCV002828762] Chr8:99720993 [GRCh38]
Chr8:100733221 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11886C>G (p.Pro3962=) single nucleotide variant Cohen syndrome [RCV003084606] Chr8:99875558 [GRCh38]
Chr8:100887786 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4042+20_4042+23del microsatellite Cohen syndrome [RCV002982119] Chr8:99501872..99501875 [GRCh38]
Chr8:100514100..100514103 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3573A>G (p.Lys1191=) single nucleotide variant Cohen syndrome [RCV002852706] Chr8:99467541 [GRCh38]
Chr8:100479769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9048A>C (p.Ser3016=) single nucleotide variant Cohen syndrome [RCV003023411] Chr8:99821347 [GRCh38]
Chr8:100833575 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10050C>A (p.Thr3350=) single nucleotide variant Cohen syndrome [RCV002894720] Chr8:99848883 [GRCh38]
Chr8:100861111 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1652-5T>G single nucleotide variant Cohen syndrome [RCV002850864] Chr8:99142969 [GRCh38]
Chr8:100155197 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10470C>T (p.Ile3490=) single nucleotide variant Cohen syndrome [RCV002893838] Chr8:99853859 [GRCh38]
Chr8:100866087 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10320C>T (p.His3440=) single nucleotide variant Cohen syndrome [RCV003005249] Chr8:99853709 [GRCh38]
Chr8:100865937 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2915C>T (p.Thr972Ile) single nucleotide variant Cohen syndrome [RCV002957812] Chr8:99384298 [GRCh38]
Chr8:100396526 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.256A>G (p.Met86Val) single nucleotide variant Cohen syndrome [RCV002663469] Chr8:99038531 [GRCh38]
Chr8:100050759 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7088A>T (p.Lys2363Met) single nucleotide variant Cohen syndrome [RCV003023854] Chr8:99766811 [GRCh38]
Chr8:100779039 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10794C>G (p.Pro3598=) single nucleotide variant Cohen syndrome [RCV002852764] Chr8:99854183 [GRCh38]
Chr8:100866411 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5498A>G (p.Lys1833Arg) single nucleotide variant Inborn genetic diseases [RCV002803998] Chr8:99642088 [GRCh38]
Chr8:100654316 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2289C>T (p.Phe763=) single nucleotide variant Cohen syndrome [RCV002663509] Chr8:99170119 [GRCh38]
Chr8:100182347 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3959G>A (p.Gly1320Glu) single nucleotide variant Cohen syndrome [RCV002850976] Chr8:99501775 [GRCh38]
Chr8:100514003 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4043-20C>T single nucleotide variant Cohen syndrome [RCV002594740] Chr8:99502816 [GRCh38]
Chr8:100515044 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs) duplication Cohen syndrome [RCV002625685] Chr8:99577608..99577609 [GRCh38]
Chr8:100589836..100589837 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3816T>C (p.Ala1272=) single nucleotide variant Cohen syndrome [RCV002957828] Chr8:99481748 [GRCh38]
Chr8:100493976 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8553A>G (p.Gly2851=) single nucleotide variant Cohen syndrome [RCV003058610] Chr8:99818820 [GRCh38]
Chr8:100831048 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11599_11601dup (p.Ser3867_Glu3868insSer) duplication Cohen syndrome [RCV003039950] Chr8:99871548..99871549 [GRCh38]
Chr8:100883776..100883777 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11862T>G (p.Pro3954=) single nucleotide variant Cohen syndrome [RCV002574606] Chr8:99875534 [GRCh38]
Chr8:100887762 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6842T>A (p.Leu2281Gln) single nucleotide variant Cohen syndrome [RCV003056128] Chr8:99720529 [GRCh38]
Chr8:100732757 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7926T>A (p.Ser2642=) single nucleotide variant Cohen syndrome [RCV002875606] Chr8:99784461 [GRCh38]
Chr8:100796689 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.75T>C (p.Asp25=) single nucleotide variant Cohen syndrome [RCV002790918] Chr8:99013863 [GRCh38]
Chr8:100026091 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7713T>C (p.Ser2571=) single nucleotide variant Cohen syndrome [RCV002871986] Chr8:99778965 [GRCh38]
Chr8:100791193 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6747A>C (p.Val2249=) single nucleotide variant Cohen syndrome [RCV003005815] Chr8:99720434 [GRCh38]
Chr8:100732662 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-16C>A single nucleotide variant Cohen syndrome [RCV002875622] Chr8:99818697 [GRCh38]
Chr8:100830925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5508A>G (p.Ser1836=) single nucleotide variant Cohen syndrome [RCV003040091] Chr8:99642098 [GRCh38]
Chr8:100654326 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4891G>A (p.Val1631Ile) single nucleotide variant Cohen syndrome [RCV003042469] Chr8:99556595 [GRCh38]
Chr8:100568823 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs) deletion Cohen syndrome [RCV002701466] Chr8:99859451 [GRCh38]
Chr8:100871679 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10868-11G>T single nucleotide variant Cohen syndrome [RCV003084709] Chr8:99859293 [GRCh38]
Chr8:100871521 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4875T>C (p.Ser1625=) single nucleotide variant Cohen syndrome [RCV002700419] Chr8:99556579 [GRCh38]
Chr8:100568807 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7849C>T (p.Leu2617=) single nucleotide variant Cohen syndrome [RCV002596775] Chr8:99784384 [GRCh38]
Chr8:100796612 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6682A>G (p.Asn2228Asp) single nucleotide variant Cohen syndrome [RCV002710060] Chr8:99720369 [GRCh38]
Chr8:100732597 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4647A>G (p.Ala1549=) single nucleotide variant Cohen syndrome [RCV003056314] Chr8:99520912 [GRCh38]
Chr8:100533140 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2488T>G (p.Leu830Val) single nucleotide variant Cohen syndrome [RCV002741481]|VPS13B-related disorder [RCV004725364] Chr8:99193030 [GRCh38]
Chr8:100205258 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1752T>C (p.Phe584=) single nucleotide variant Cohen syndrome [RCV002852496] Chr8:99143074 [GRCh38]
Chr8:100155302 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-2A>G single nucleotide variant Cohen syndrome [RCV003084249] Chr8:99859302 [GRCh38]
Chr8:100871530 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6542G>A (p.Gly2181Glu) single nucleotide variant Cohen syndrome [RCV002918011] Chr8:99717258 [GRCh38]
Chr8:100729486 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs) deletion Cohen syndrome [RCV002957943] Chr8:99871475..99871476 [GRCh38]
Chr8:100883703..100883704 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7954T>G (p.Cys2652Gly) single nucleotide variant Cohen syndrome [RCV002890948] Chr8:99809387 [GRCh38]
Chr8:100821615 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5221-15del deletion Cohen syndrome [RCV003084283] Chr8:99641796 [GRCh38]
Chr8:100654024 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10203A>T (p.Gly3401=) single nucleotide variant Cohen syndrome [RCV003042072] Chr8:99853592 [GRCh38]
Chr8:100865820 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8361+20C>G single nucleotide variant Cohen syndrome [RCV003083954] Chr8:99817823 [GRCh38]
Chr8:100830051 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=) single nucleotide variant Cohen syndrome [RCV003058429]|VPS13B-related disorder [RCV003898714] Chr8:99577537 [GRCh38]
Chr8:100589765 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11956del (p.Met3986fs) deletion Cohen syndrome [RCV003023670] Chr8:99875628 [GRCh38]
Chr8:100887856 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4791C>A (p.Ile1597=) single nucleotide variant Cohen syndrome [RCV003006441] Chr8:99556495 [GRCh38]
Chr8:100568723 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.738T>C (p.Asn246=) single nucleotide variant Cohen syndrome [RCV002928827] Chr8:99111255 [GRCh38]
Chr8:100123483 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7576C>G (p.Gln2526Glu) single nucleotide variant Cohen syndrome [RCV002720518] Chr8:99778828 [GRCh38]
Chr8:100791056 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1564-7T>C single nucleotide variant Cohen syndrome [RCV002676251] Chr8:99136658 [GRCh38]
Chr8:100148886 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9832G>C (p.Asp3278His) single nucleotide variant Cohen syndrome [RCV002632744] Chr8:99835628 [GRCh38]
Chr8:100847856 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6103C>A (p.Leu2035Met) single nucleotide variant Cohen syndrome [RCV002633007] Chr8:99699581 [GRCh38]
Chr8:100711809 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8592C>A (p.Asp2864Glu) single nucleotide variant Cohen syndrome [RCV003086224] Chr8:99818859 [GRCh38]
Chr8:100831087 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5430T>A (p.Ile1810=) single nucleotide variant Cohen syndrome [RCV002597589] Chr8:99642020 [GRCh38]
Chr8:100654248 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2649A>G (p.Pro883=) single nucleotide variant Cohen syndrome [RCV002807113] Chr8:99274331 [GRCh38]
Chr8:100286559 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7594C>G (p.Leu2532Val) single nucleotide variant Cohen syndrome [RCV003062662] Chr8:99778846 [GRCh38]
Chr8:100791074 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.861A>G (p.Gly287=) single nucleotide variant Cohen syndrome [RCV002651286]|VPS13B-related disorder [RCV004744625] Chr8:99115798 [GRCh38]
Chr8:100128026 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1891C>T (p.Leu631Phe) single nucleotide variant Inborn genetic diseases [RCV002812995] Chr8:99147888 [GRCh38]
Chr8:100160116 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3187G>A (p.Ala1063Thr) single nucleotide variant Cohen syndrome [RCV002602594] Chr8:99431641 [GRCh38]
Chr8:100443869 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4395T>A (p.His1465Gln) single nucleotide variant Cohen syndrome [RCV002581953] Chr8:99511274 [GRCh38]
Chr8:100523502 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10215C>T (p.Leu3405=) single nucleotide variant Cohen syndrome [RCV003030642] Chr8:99853604 [GRCh38]
Chr8:100865832 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8757A>G (p.Gln2919=) single nucleotide variant Cohen syndrome [RCV003044913] Chr8:99819547 [GRCh38]
Chr8:100831775 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5775G>C (p.Gln1925His) single nucleotide variant Inborn genetic diseases [RCV002835581] Chr8:99642365 [GRCh38]
Chr8:100654593 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2500A>G (p.Ile834Val) single nucleotide variant Cohen syndrome [RCV003030655] Chr8:99193042 [GRCh38]
Chr8:100205270 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5514A>G (p.Glu1838=) single nucleotide variant Cohen syndrome [RCV003065853] Chr8:99642104 [GRCh38]
Chr8:100654332 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3070A>G (p.Lys1024Glu) single nucleotide variant Cohen syndrome [RCV002602731] Chr8:99391692 [GRCh38]
Chr8:100403920 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His) single nucleotide variant Cohen syndrome [RCV002895429]|VPS13B-related disorder [RCV003427516] Chr8:99511429 [GRCh38]
Chr8:100523657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5849T>C (p.Val1950Ala) single nucleotide variant Cohen syndrome [RCV002806666] Chr8:99642439 [GRCh38]
Chr8:100654667 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8719A>C (p.Ile2907Leu) single nucleotide variant Cohen syndrome [RCV002671196] Chr8:99819509 [GRCh38]
Chr8:100831737 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1132C>G (p.Gln378Glu) single nucleotide variant Cohen syndrome [RCV002716823] Chr8:99121371 [GRCh38]
Chr8:100133599 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.276T>A (p.Leu92=) single nucleotide variant Cohen syndrome [RCV002810730] Chr8:99038551 [GRCh38]
Chr8:100050779 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9019T>G (p.Trp3007Gly) single nucleotide variant Cohen syndrome [RCV002810920] Chr8:99821318 [GRCh38]
Chr8:100833546 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs) deletion Cohen syndrome [RCV002581736] Chr8:99507817 [GRCh38]
Chr8:100520045 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10945TTC[1] (p.Phe3650del) microsatellite Cohen syndrome [RCV002716144]|VPS13B-related disorder [RCV004744429] Chr8:99859380..99859382 [GRCh38]
Chr8:100871608..100871610 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11103C>G (p.Leu3701=) single nucleotide variant Cohen syndrome [RCV002600057] Chr8:99861834 [GRCh38]
Chr8:100874062 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3093A>G (p.Pro1031=) single nucleotide variant Cohen syndrome [RCV002922708] Chr8:99431547 [GRCh38]
Chr8:100443775 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs) deletion Cohen syndrome [RCV002899131] Chr8:99717363..99717369 [GRCh38]
Chr8:100729591..100729597 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7437A>G (p.Pro2479=) single nucleotide variant Cohen syndrome [RCV002602913] Chr8:99778689 [GRCh38]
Chr8:100790917 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu) single nucleotide variant Cohen syndrome [RCV003064838]|VPS13B-related disorder [RCV003395578] Chr8:99143093 [GRCh38]
Chr8:100155321 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1027C>G (p.Gln343Glu) single nucleotide variant Cohen syndrome [RCV002962289] Chr8:99121266 [GRCh38]
Chr8:100133494 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5526T>C (p.Asn1842=) single nucleotide variant Cohen syndrome [RCV003089972] Chr8:99642116 [GRCh38]
Chr8:100654344 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter) single nucleotide variant Cohen syndrome [RCV002720097] Chr8:99819540 [GRCh38]
Chr8:100831768 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs) deletion Cohen syndrome [RCV002633068] Chr8:99861813 [GRCh38]
Chr8:100874041 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.368G>A (p.Arg123Gln) single nucleotide variant Cohen syndrome [RCV003091219] Chr8:99096388 [GRCh38]
Chr8:100108616 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7250C>T (p.Ser2417Phe) single nucleotide variant Cohen syndrome [RCV003031784] Chr8:99776777 [GRCh38]
Chr8:100789005 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3244A>G (p.Asn1082Asp) single nucleotide variant Cohen syndrome [RCV003060346] Chr8:99442434 [GRCh38]
Chr8:100454662 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4245_4247dup (p.Gly1416_Thr1417insGly) duplication Cohen syndrome [RCV003060363] Chr8:99511123..99511124 [GRCh38]
Chr8:100523351..100523352 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7050+13C>G single nucleotide variant Cohen syndrome [RCV003086951] Chr8:99721060 [GRCh38]
Chr8:100733288 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.812T>G (p.Leu271Arg) single nucleotide variant Cohen syndrome [RCV003048307] Chr8:99115749 [GRCh38]
Chr8:100127977 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7610T>G (p.Val2537Gly) single nucleotide variant Cohen syndrome [RCV003091535] Chr8:99778862 [GRCh38]
Chr8:100791090 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8040G>A (p.Arg2680=) single nucleotide variant Cohen syndrome [RCV003091349] Chr8:99809473 [GRCh38]
Chr8:100821701 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4381C>T (p.Pro1461Ser) single nucleotide variant Cohen syndrome [RCV002633050]|VPS13B-related disorder [RCV004744619] Chr8:99511260 [GRCh38]
Chr8:100523488 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11314G>A (p.Gly3772Ser) single nucleotide variant Cohen syndrome [RCV003047746] Chr8:99868387 [GRCh38]
Chr8:100880615 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2513T>C (p.Ile838Thr) single nucleotide variant Cohen syndrome [RCV003048611] Chr8:99193055 [GRCh38]
Chr8:100205283 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11044+11C>T single nucleotide variant Cohen syndrome [RCV002721132] Chr8:99859491 [GRCh38]
Chr8:100871719 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7902C>A (p.His2634Gln) single nucleotide variant Inborn genetic diseases [RCV002703110] Chr8:99784437 [GRCh38]
Chr8:100796665 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7942C>T (p.Leu2648=) single nucleotide variant Cohen syndrome [RCV003065797] Chr8:99809375 [GRCh38]
Chr8:100821603 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1628C>A (p.Thr543Lys) single nucleotide variant Cohen syndrome [RCV003026263] Chr8:99136729 [GRCh38]
Chr8:100148957 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2763T>G (p.Ala921=) single nucleotide variant Cohen syndrome [RCV002834005] Chr8:99275193 [GRCh38]
Chr8:100287421 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5192G>A (p.Gly1731Glu) single nucleotide variant Cohen syndrome [RCV003065405] Chr8:99577605 [GRCh38]
Chr8:100589833 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5619A>C (p.Glu1873Asp) single nucleotide variant Cohen syndrome [RCV003091260] Chr8:99642209 [GRCh38]
Chr8:100654437 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8853A>G (p.Pro2951=) single nucleotide variant Cohen syndrome [RCV002966577] Chr8:99819981 [GRCh38]
Chr8:100832209 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2355T>A (p.Ala785=) single nucleotide variant Cohen syndrome [RCV003048631] Chr8:99192897 [GRCh38]
Chr8:100205125 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8761A>G (p.Ile2921Val) single nucleotide variant Cohen syndrome [RCV002581678] Chr8:99819551 [GRCh38]
Chr8:100831779 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11746-10dup duplication Cohen syndrome [RCV002601476] Chr8:99875403..99875404 [GRCh38]
Chr8:100887631..100887632 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.5032G>A (p.Val1678Ile) single nucleotide variant Cohen syndrome [RCV003064494] Chr8:99575740 [GRCh38]
Chr8:100587968 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742+1G>A single nucleotide variant Cohen syndrome [RCV003029617] Chr8:99835325 [GRCh38]
Chr8:100847553 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2935-20T>C single nucleotide variant Cohen syndrome [RCV002720872] Chr8:99391537 [GRCh38]
Chr8:100403765 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1086C>T (p.Gly362=) single nucleotide variant Cohen syndrome [RCV003087360] Chr8:99121325 [GRCh38]
Chr8:100133553 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6179T>C (p.Met2060Thr) single nucleotide variant Cohen syndrome [RCV003087780] Chr8:99699657 [GRCh38]
Chr8:100711885 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7119G>A (p.Leu2373=) single nucleotide variant Cohen syndrome [RCV002937294] Chr8:99766842 [GRCh38]
Chr8:100779070 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7180A>G (p.Lys2394Glu) single nucleotide variant Cohen syndrome [RCV002645908] Chr8:99766903 [GRCh38]
Chr8:100779131 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8637T>G (p.Pro2879=) single nucleotide variant Cohen syndrome [RCV002576766] Chr8:99819427 [GRCh38]
Chr8:100831655 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5685T>C (p.Ser1895=) single nucleotide variant Cohen syndrome [RCV002646136] Chr8:99642275 [GRCh38]
Chr8:100654503 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7173C>T (p.Asp2391=) single nucleotide variant Cohen syndrome [RCV003009601] Chr8:99766896 [GRCh38]
Chr8:100779124 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7780-8T>C single nucleotide variant Cohen syndrome [RCV002647307] Chr8:99784307 [GRCh38]
Chr8:100796535 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7071C>T (p.Tyr2357=) single nucleotide variant Cohen syndrome [RCV003063284] Chr8:99766794 [GRCh38]
Chr8:100779022 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8786C>A (p.Ser2929Tyr) single nucleotide variant Cohen syndrome [RCV003027518] Chr8:99819576 [GRCh38]
Chr8:100831804 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7840C>A (p.Gln2614Lys) single nucleotide variant Cohen syndrome [RCV002770420] Chr8:99784375 [GRCh38]
Chr8:100796603 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11863G>A (p.Val3955Met) single nucleotide variant Cohen syndrome [RCV003009893] Chr8:99875535 [GRCh38]
Chr8:100887763 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6878T>C (p.Leu2293Ser) single nucleotide variant Cohen syndrome [RCV002922476] Chr8:99720875 [GRCh38]
Chr8:100733103 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6039T>G (p.Asn2013Lys) single nucleotide variant Cohen syndrome [RCV002716712] Chr8:99661484 [GRCh38]
Chr8:100673712 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3082+12G>A single nucleotide variant Cohen syndrome [RCV002988819] Chr8:99391716 [GRCh38]
Chr8:100403944 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9029C>A (p.Thr3010Lys) single nucleotide variant Cohen syndrome [RCV002988423] Chr8:99821328 [GRCh38]
Chr8:100833556 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9503G>A (p.Gly3168Asp) single nucleotide variant Cohen syndrome [RCV003060595] Chr8:99832541 [GRCh38]
Chr8:100844769 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9075G>A (p.Leu3025=) single nucleotide variant Cohen syndrome [RCV003086931]|VPS13B-related disorder [RCV004744588] Chr8:99821374 [GRCh38]
Chr8:100833602 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5386C>T (p.Arg1796Cys) single nucleotide variant Cohen syndrome [RCV002647804] Chr8:99641976 [GRCh38]
Chr8:100654204 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9743-8A>C single nucleotide variant Cohen syndrome [RCV002922747] Chr8:99835531 [GRCh38]
Chr8:100847759 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7051-5C>A single nucleotide variant Cohen syndrome [RCV003026504] Chr8:99766769 [GRCh38]
Chr8:100778997 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9140T>C (p.Val3047Ala) single nucleotide variant Cohen syndrome [RCV003089480] Chr8:99821439 [GRCh38]
Chr8:100833667 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10929G>C (p.Gly3643=) single nucleotide variant Cohen syndrome [RCV003060610] Chr8:99859365 [GRCh38]
Chr8:100871593 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.148-10G>T single nucleotide variant Cohen syndrome [RCV002856213] Chr8:99038413 [GRCh38]
Chr8:100050641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6399A>G (p.Ala2133=) single nucleotide variant Cohen syndrome [RCV002856700] Chr8:99699877 [GRCh38]
Chr8:100712105 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10459G>A (p.Gly3487Ser) single nucleotide variant Cohen syndrome [RCV003087446]|VPS13B-related disorder [RCV004744573] Chr8:99853848 [GRCh38]
Chr8:100866076 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.971A>G (p.Tyr324Cys) single nucleotide variant Cohen syndrome [RCV003087661] Chr8:99121210 [GRCh38]
Chr8:100133438 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer) deletion Cohen syndrome [RCV002833811] Chr8:99275199 [GRCh38]
Chr8:100287427 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9513C>T (p.Ser3171=) single nucleotide variant Cohen syndrome [RCV002806331] Chr8:99832551 [GRCh38]
Chr8:100844779 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3695T>C (p.Ile1232Thr) single nucleotide variant Cohen syndrome [RCV002599132] Chr8:99481627 [GRCh38]
Chr8:100493855 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10804A>T (p.Thr3602Ser) single nucleotide variant Cohen syndrome [RCV002834861] Chr8:99854193 [GRCh38]
Chr8:100866421 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.763-1G>T single nucleotide variant Cohen syndrome [RCV002746326] Chr8:99115699 [GRCh38]
Chr8:100127927 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2867T>C (p.Ile956Thr) single nucleotide variant Cohen syndrome [RCV003044423] Chr8:99384250 [GRCh38]
Chr8:100396478 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11292C>T (p.His3764=) single nucleotide variant Cohen syndrome [RCV002899011] Chr8:99868365 [GRCh38]
Chr8:100880593 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6003T>C (p.Pro2001=) single nucleotide variant Cohen syndrome [RCV003046570] Chr8:99661448 [GRCh38]
Chr8:100673676 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5050G>A (p.Val1684Ile) single nucleotide variant Cohen syndrome [RCV003088927] Chr8:99575758 [GRCh38]
Chr8:100587986 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7565A>G (p.Gln2522Arg) single nucleotide variant Cohen syndrome [RCV003087705] Chr8:99778817 [GRCh38]
Chr8:100791045 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10134C>T (p.Thr3378=) single nucleotide variant Cohen syndrome [RCV002600583] Chr8:99853523 [GRCh38]
Chr8:100865751 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.18A>T (p.Val6=) single nucleotide variant Cohen syndrome [RCV002834806]|VPS13B-related disorder [RCV003898554] Chr8:99013806 [GRCh38]
Chr8:100026034 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs) deletion Cohen syndrome [RCV003045803] Chr8:99467462 [GRCh38]
Chr8:100479690 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11461G>A (p.Asp3821Asn) single nucleotide variant Cohen syndrome [RCV002599701] Chr8:99870853 [GRCh38]
Chr8:100883081 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11967_11969dup (p.Asn3989_Lys3990insAsn) duplication Cohen syndrome [RCV003060741] Chr8:99875636..99875637 [GRCh38]
Chr8:100887864..100887865 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg) single nucleotide variant Cohen syndrome [RCV002895684]|Inborn genetic diseases [RCV004066089]|not provided [RCV003152807] Chr8:99778900 [GRCh38]
Chr8:100791128 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2516-10C>G single nucleotide variant Cohen syndrome [RCV003044602] Chr8:99274188 [GRCh38]
Chr8:100286416 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8361+3T>C single nucleotide variant Cohen syndrome [RCV003087749] Chr8:99817806 [GRCh38]
Chr8:100830034 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8792+24dup duplication Cohen syndrome [RCV003091011] Chr8:99819601..99819602 [GRCh38]
Chr8:100831829..100831830 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs) deletion Cohen syndrome [RCV003009086] Chr8:99699859 [GRCh38]
Chr8:100712087 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11572_11574del (p.Glu3858del) deletion Cohen syndrome [RCV003086852]|VPS13B-related disorder [RCV004744584] Chr8:99871522..99871524 [GRCh38]
Chr8:100883750..100883752 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4646C>G (p.Ala1549Gly) single nucleotide variant Cohen syndrome [RCV003061343] Chr8:99520911 [GRCh38]
Chr8:100533139 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser) single nucleotide variant Cohen syndrome [RCV002647755]|VPS13B-related disorder [RCV003953966]|not provided [RCV004809909] Chr8:99875462 [GRCh38]
Chr8:100887690 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1436T>A (p.Phe479Tyr) single nucleotide variant Inborn genetic diseases [RCV002719221] Chr8:99135606 [GRCh38]
Chr8:100147834 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5995A>G (p.Ile1999Val) single nucleotide variant Cohen syndrome [RCV003090691] Chr8:99661440 [GRCh38]
Chr8:100673668 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter) single nucleotide variant Cohen syndrome [RCV002895790] Chr8:99817751 [GRCh38]
Chr8:100829979 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11392+7C>A single nucleotide variant Cohen syndrome [RCV002856677] Chr8:99868472 [GRCh38]
Chr8:100880700 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2074C>A (p.Arg692=) single nucleotide variant Cohen syndrome [RCV002922085] Chr8:99156609 [GRCh38]
Chr8:100168837 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.10514G>A (p.Arg3505Gln) single nucleotide variant Cohen syndrome [RCV002598973] Chr8:99853903 [GRCh38]
Chr8:100866131 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11403T>C (p.His3801=) single nucleotide variant Cohen syndrome [RCV003045361] Chr8:99870795 [GRCh38]
Chr8:100883023 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11103C>A (p.Leu3701=) single nucleotide variant Cohen syndrome [RCV003029033] Chr8:99861834 [GRCh38]
Chr8:100874062 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.73G>A (p.Asp25Asn) single nucleotide variant Inborn genetic diseases [RCV002717449] Chr8:99013861 [GRCh38]
Chr8:100026089 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2946A>C (p.Val982=) single nucleotide variant Cohen syndrome [RCV002899983] Chr8:99391568 [GRCh38]
Chr8:100403796 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2592A>G (p.Ser864=) single nucleotide variant Cohen syndrome [RCV002580819]|VPS13B-related disorder [RCV004744379] Chr8:99274274 [GRCh38]
Chr8:100286502 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8383A>G (p.Ile2795Val) single nucleotide variant Inborn genetic diseases [RCV002702968] Chr8:99818472 [GRCh38]
Chr8:100830700 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+713G>T single nucleotide variant Cohen syndrome [RCV002770717]|VPS13B-related disorder [RCV004744447] Chr8:99507916 [GRCh38]
Chr8:100520144 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs) duplication Cohen syndrome [RCV002898773] Chr8:99870805..99870806 [GRCh38]
Chr8:100883033..100883034 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs) deletion Cohen syndrome [RCV003029835] Chr8:99642180..99642201 [GRCh38]
Chr8:100654408..100654429 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5266A>G (p.Met1756Val) single nucleotide variant Cohen syndrome [RCV003026634] Chr8:99641856 [GRCh38]
Chr8:100654084 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9330+17G>T single nucleotide variant Cohen syndrome [RCV003027121] Chr8:99823995 [GRCh38]
Chr8:100836223 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3058C>A (p.Pro1020Thr) single nucleotide variant Cohen syndrome [RCV003090162]|Inborn genetic diseases [RCV004676142] Chr8:99391680 [GRCh38]
Chr8:100403908 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5820T>A (p.Leu1940=) single nucleotide variant Cohen syndrome [RCV003030649] Chr8:99642410 [GRCh38]
Chr8:100654638 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2950G>C (p.Val984Leu) single nucleotide variant Cohen syndrome [RCV002647486]|VPS13B-related disorder [RCV004744623] Chr8:99391572 [GRCh38]
Chr8:100403800 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7491C>T (p.Tyr2497=) single nucleotide variant Cohen syndrome [RCV002922776] Chr8:99778743 [GRCh38]
Chr8:100790971 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7713T>G (p.Ser2571=) single nucleotide variant Cohen syndrome [RCV002857765] Chr8:99778965 [GRCh38]
Chr8:100791193 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9183+2T>G single nucleotide variant Cohen syndrome [RCV002938464] Chr8:99821484 [GRCh38]
Chr8:100833712 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11983G>A (p.Gly3995Arg) single nucleotide variant Cohen syndrome [RCV002966488] Chr8:99875655 [GRCh38]
Chr8:100887883 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4885G>A (p.Gly1629Arg) single nucleotide variant Cohen syndrome [RCV003060633]|VPS13B-related disorder [RCV004744550] Chr8:99556589 [GRCh38]
Chr8:100568817 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1303-19G>A single nucleotide variant Cohen syndrome [RCV002598247] Chr8:99134996 [GRCh38]
Chr8:100147224 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-5C>G single nucleotide variant Cohen syndrome [RCV002715387]|not provided [RCV004790238] Chr8:99431532 [GRCh38]
Chr8:100443760 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter) indel Cohen syndrome [RCV003062172] Chr8:99778820..99778821 [GRCh38]
Chr8:100791048..100791049 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7618C>G (p.Gln2540Glu) single nucleotide variant Cohen syndrome [RCV003046598] Chr8:99778870 [GRCh38]
Chr8:100791098 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10002A>G (p.Thr3334=) single nucleotide variant Cohen syndrome [RCV002580377] Chr8:99848835 [GRCh38]
Chr8:100861063 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10739T>C (p.Leu3580Pro) single nucleotide variant Cohen syndrome [RCV002811672] Chr8:99854128 [GRCh38]
Chr8:100866356 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu) single nucleotide variant Cohen syndrome [RCV003060177]|Inborn genetic diseases [RCV003060176]|VPS13B-related disorder [RCV003410055] Chr8:99854022 [GRCh38]
Chr8:100866250 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8955G>A (p.Gln2985=) single nucleotide variant Cohen syndrome [RCV002646522] Chr8:99820083 [GRCh38]
Chr8:100832311 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9371C>G (p.Pro3124Arg) single nucleotide variant Cohen syndrome [RCV003087009] Chr8:99832409 [GRCh38]
Chr8:100844637 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1721C>T (p.Thr574Ile) single nucleotide variant Cohen syndrome [RCV003088244] Chr8:99143043 [GRCh38]
Chr8:100155271 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6047-20T>A single nucleotide variant Cohen syndrome [RCV002650803] Chr8:99699505 [GRCh38]
Chr8:100711733 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3075G>C (p.Thr1025=) single nucleotide variant Cohen syndrome [RCV003045221] Chr8:99391697 [GRCh38]
Chr8:100403925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter) single nucleotide variant Cohen syndrome [RCV002834382] Chr8:99442584 [GRCh38]
Chr8:100454812 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10382G>A (p.Ser3461Asn) single nucleotide variant Inborn genetic diseases [RCV002936413] Chr8:99853771 [GRCh38]
Chr8:100865999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4413A>G (p.Ala1471=) single nucleotide variant Cohen syndrome [RCV003046346] Chr8:99511292 [GRCh38]
Chr8:100523520 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8994+20T>G single nucleotide variant Cohen syndrome [RCV003028910] Chr8:99820142 [GRCh38]
Chr8:100832370 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3993C>G (p.Pro1331=) single nucleotide variant Cohen syndrome [RCV003029708] Chr8:99501809 [GRCh38]
Chr8:100514037 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10825G>T (p.Ala3609Ser) single nucleotide variant Cohen syndrome [RCV002650864] Chr8:99854214 [GRCh38]
Chr8:100866442 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4157+15A>C single nucleotide variant Cohen syndrome [RCV003086322] Chr8:99502965 [GRCh38]
Chr8:100515193 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7657G>A (p.Ala2553Thr) single nucleotide variant Cohen syndrome [RCV002806463] Chr8:99778909 [GRCh38]
Chr8:100791137 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5425T>C (p.Phe1809Leu) single nucleotide variant Cohen syndrome [RCV003062823] Chr8:99642015 [GRCh38]
Chr8:100654243 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9615G>T (p.Arg3205Ser) single nucleotide variant Cohen syndrome [RCV002810639] Chr8:99835197 [GRCh38]
Chr8:100847425 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg) single nucleotide variant Cohen syndrome [RCV002900454]|Inborn genetic diseases [RCV003269307] Chr8:99717282 [GRCh38]
Chr8:100729510 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7423G>C (p.Gly2475Arg) single nucleotide variant Cohen syndrome [RCV002645883] Chr8:99776950 [GRCh38]
Chr8:100789178 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.147+13_147+22del deletion Cohen syndrome [RCV003087361] Chr8:99013945..99013954 [GRCh38]
Chr8:100026173..100026182 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.382G>A (p.Ala128Thr) single nucleotide variant Cohen syndrome [RCV002715539] Chr8:99096402 [GRCh38]
Chr8:100108630 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10061+16T>G single nucleotide variant Cohen syndrome [RCV003047310] Chr8:99848910 [GRCh38]
Chr8:100861138 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8725G>A (p.Asp2909Asn) single nucleotide variant Inborn genetic diseases [RCV002719932] Chr8:99819515 [GRCh38]
Chr8:100831743 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5232A>G (p.Gln1744=) single nucleotide variant Cohen syndrome [RCV002857631] Chr8:99641822 [GRCh38]
Chr8:100654050 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3186T>C (p.Asn1062=) single nucleotide variant Cohen syndrome [RCV002895874] Chr8:99431640 [GRCh38]
Chr8:100443868 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8654C>T (p.Pro2885Leu) single nucleotide variant Cohen syndrome [RCV002806968] Chr8:99819444 [GRCh38]
Chr8:100831672 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7247+11G>C single nucleotide variant Cohen syndrome [RCV003045315] Chr8:99766981 [GRCh38]
Chr8:100779209 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4641G>A (p.Gln1547=) single nucleotide variant Cohen syndrome [RCV003027318] Chr8:99520906 [GRCh38]
Chr8:100533134 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.763-18G>A single nucleotide variant Cohen syndrome [RCV002963092] Chr8:99115682 [GRCh38]
Chr8:100127910 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7141C>G (p.Leu2381Val) single nucleotide variant Cohen syndrome [RCV002899676] Chr8:99766864 [GRCh38]
Chr8:100779092 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7942-7dup duplication Cohen syndrome [RCV002601693] Chr8:99809361..99809362 [GRCh38]
Chr8:100821589..100821590 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.7204A>G (p.Arg2402Gly) single nucleotide variant Cohen syndrome [RCV003061379] Chr8:99766927 [GRCh38]
Chr8:100779155 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter) single nucleotide variant Cohen syndrome [RCV002833765] Chr8:99507788 [GRCh38]
Chr8:100520016 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1989A>G (p.Leu663=) single nucleotide variant Cohen syndrome [RCV002597678] Chr8:99147986 [GRCh38]
Chr8:100160214 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1843+1G>A single nucleotide variant Cohen syndrome [RCV003027920] Chr8:99143166 [GRCh38]
Chr8:100155394 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4631A>G (p.Glu1544Gly) single nucleotide variant Cohen syndrome [RCV002629073] Chr8:99511510 [GRCh38]
Chr8:100523738 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3734A>G (p.Asn1245Ser) single nucleotide variant Cohen syndrome [RCV002628106] Chr8:99481666 [GRCh38]
Chr8:100493894 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1934T>A (p.Leu645His) single nucleotide variant Cohen syndrome [RCV003086815]|VPS13B-related disorder [RCV004744583] Chr8:99147931 [GRCh38]
Chr8:100160159 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser) single nucleotide variant Cohen syndrome [RCV003061409]|VPS13B-related disorder [RCV003410067] Chr8:99818795 [GRCh38]
Chr8:100831023 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer) insertion Cohen syndrome [RCV003045111] Chr8:99642207..99642208 [GRCh38]
Chr8:100654435..100654436 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs) deletion Cohen syndrome [RCV003087771] Chr8:99875500 [GRCh38]
Chr8:100887728 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3588A>G (p.Gly1196=) single nucleotide variant Cohen syndrome [RCV002671329] Chr8:99467556 [GRCh38]
Chr8:100479784 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9386C>G (p.Pro3129Arg) single nucleotide variant Cohen syndrome [RCV003089608] Chr8:99832424 [GRCh38]
Chr8:100844652 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr) single nucleotide variant Cohen syndrome [RCV002630760]|Inborn genetic diseases [RCV002630761] Chr8:99156613 [GRCh38]
Chr8:100168841 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7248-16C>T single nucleotide variant Cohen syndrome [RCV003047046] Chr8:99776759 [GRCh38]
Chr8:100788987 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.148-5T>C single nucleotide variant Cohen syndrome [RCV003063956] Chr8:99038418 [GRCh38]
Chr8:100050646 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11941C>T (p.Leu3981Phe) single nucleotide variant Cohen syndrome [RCV002580626] Chr8:99875613 [GRCh38]
Chr8:100887841 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9753G>A (p.Lys3251=) single nucleotide variant Cohen syndrome [RCV003063976] Chr8:99835549 [GRCh38]
Chr8:100847777 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3202A>C (p.Thr1068Pro) single nucleotide variant Inborn genetic diseases [RCV002702958] Chr8:99431656 [GRCh38]
Chr8:100443884 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11302G>C (p.Gly3768Arg) single nucleotide variant Cohen syndrome [RCV002770759]|Inborn genetic diseases [RCV004064744] Chr8:99868375 [GRCh38]
Chr8:100880603 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter) single nucleotide variant Cohen syndrome [RCV003047508] Chr8:99134702 [GRCh38]
Chr8:100146930 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.7629G>T (p.Val2543=) single nucleotide variant Cohen syndrome [RCV002650110] Chr8:99778881 [GRCh38]
Chr8:100791109 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4746-18T>C single nucleotide variant Cohen syndrome [RCV003047917] Chr8:99556432 [GRCh38]
Chr8:100568660 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6983C>T (p.Thr2328Ile) single nucleotide variant Cohen syndrome [RCV003047924] Chr8:99720980 [GRCh38]
Chr8:100733208 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5911C>T (p.Pro1971Ser) single nucleotide variant Cohen syndrome [RCV002746296] Chr8:99661356 [GRCh38]
Chr8:100673584 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3015G>A (p.Leu1005=) single nucleotide variant Cohen syndrome [RCV003061475] Chr8:99391637 [GRCh38]
Chr8:100403865 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8460T>G (p.Pro2820=) single nucleotide variant Cohen syndrome [RCV003028352] Chr8:99818727 [GRCh38]
Chr8:100830955 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2900A>G (p.Gln967Arg) single nucleotide variant Cohen syndrome [RCV003089242] Chr8:99384283 [GRCh38]
Chr8:100396511 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3816T>A (p.Ala1272=) single nucleotide variant Cohen syndrome [RCV003091506] Chr8:99481748 [GRCh38]
Chr8:100493976 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser) single nucleotide variant Cohen syndrome [RCV002967030]|VPS13B-related disorder [RCV004744507]|not provided [RCV004765608] Chr8:99502929 [GRCh38]
Chr8:100515157 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10149A>T (p.Ser3383=) single nucleotide variant Cohen syndrome [RCV002576863] Chr8:99853538 [GRCh38]
Chr8:100865766 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7941+6T>C single nucleotide variant Cohen syndrome [RCV003060930] Chr8:99784482 [GRCh38]
Chr8:100796710 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3674T>G (p.Leu1225Arg) single nucleotide variant Cohen syndrome [RCV003029725] Chr8:99481606 [GRCh38]
Chr8:100493834 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.581-17T>G single nucleotide variant Cohen syndrome [RCV003065700] Chr8:99111081 [GRCh38]
Chr8:100123309 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs) deletion Cohen syndrome [RCV003047604] Chr8:99859328..99859329 [GRCh38]
Chr8:100871556..100871557 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5654G>A (p.Gly1885Glu) single nucleotide variant Cohen syndrome [RCV002599478] Chr8:99642244 [GRCh38]
Chr8:100654472 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1854T>A (p.Asp618Glu) single nucleotide variant Cohen syndrome [RCV003090209] Chr8:99147851 [GRCh38]
Chr8:100160079 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer) deletion Cohen syndrome [RCV003048024] Chr8:99720975 [GRCh38]
Chr8:100733203 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1978C>T (p.Leu660=) single nucleotide variant Cohen syndrome [RCV003090248] Chr8:99147975 [GRCh38]
Chr8:100160203 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8268G>A (p.Leu2756=) single nucleotide variant Cohen syndrome [RCV003048035] Chr8:99817710 [GRCh38]
Chr8:100829938 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7490A>T (p.Tyr2497Phe) single nucleotide variant Inborn genetic diseases [RCV002900919] Chr8:99778742 [GRCh38]
Chr8:100790970 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7692C>T (p.Asp2564=) single nucleotide variant Cohen syndrome [RCV002988578] Chr8:99778944 [GRCh38]
Chr8:100791172 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-10C>T single nucleotide variant Cohen syndrome [RCV002806483] Chr8:99467404 [GRCh38]
Chr8:100479632 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3211-9C>T single nucleotide variant Cohen syndrome [RCV002898576] Chr8:99442392 [GRCh38]
Chr8:100454620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=) single nucleotide variant Cohen syndrome [RCV002630114]|not provided [RCV003434496] Chr8:99143023 [GRCh38]
Chr8:100155251 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5740C>T (p.Arg1914Trp) single nucleotide variant Cohen syndrome [RCV003060997] Chr8:99642330 [GRCh38]
Chr8:100654558 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1425+18A>G single nucleotide variant Cohen syndrome [RCV002601231] Chr8:99135155 [GRCh38]
Chr8:100147383 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3816T>G (p.Ala1272=) single nucleotide variant Cohen syndrome [RCV003048625] Chr8:99481748 [GRCh38]
Chr8:100493976 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1302+11A>T single nucleotide variant Cohen syndrome [RCV003087989] Chr8:99134738 [GRCh38]
Chr8:100146966 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3874G>A (p.Asp1292Asn) single nucleotide variant Cohen syndrome [RCV003066451]|VPS13B-related disorder [RCV004744543] Chr8:99501690 [GRCh38]
Chr8:100513918 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4043-4G>A single nucleotide variant Cohen syndrome [RCV002654115] Chr8:99502832 [GRCh38]
Chr8:100515060 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6865+16C>T single nucleotide variant Cohen syndrome [RCV003066576] Chr8:99720568 [GRCh38]
Chr8:100732796 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496-15T>A single nucleotide variant Cohen syndrome [RCV002653362] Chr8:99871433 [GRCh38]
Chr8:100883661 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1075T>C (p.Tyr359His) single nucleotide variant Cohen syndrome [RCV002634203]|VPS13B-related disorder [RCV004725560] Chr8:99121314 [GRCh38]
Chr8:100133542 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs) duplication Cohen syndrome [RCV003068500] Chr8:99875552..99875553 [GRCh38]
Chr8:100887780..100887781 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8994+16dup duplication Cohen syndrome [RCV002634281] Chr8:99820132..99820133 [GRCh38]
Chr8:100832360..100832361 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5874G>T (p.Val1958=) single nucleotide variant Cohen syndrome [RCV003067276] Chr8:99642464 [GRCh38]
Chr8:100654692 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.882A>G (p.Glu294=) single nucleotide variant Cohen syndrome [RCV002635793] Chr8:99115819 [GRCh38]
Chr8:100128047 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11881C>T (p.Pro3961Ser) single nucleotide variant Cohen syndrome [RCV003069737] Chr8:99875553 [GRCh38]
Chr8:100887781 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9381G>A (p.Glu3127=) single nucleotide variant Cohen syndrome [RCV003049652] Chr8:99832419 [GRCh38]
Chr8:100844647 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6304G>A (p.Ala2102Thr) single nucleotide variant Cohen syndrome [RCV002721477] Chr8:99699782 [GRCh38]
Chr8:100712010 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.887A>G (p.Glu296Gly) single nucleotide variant Cohen syndrome [RCV003051616]|VPS13B-related disorder [RCV004744537] Chr8:99115824 [GRCh38]
Chr8:100128052 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6862G>A (p.Ala2288Thr) single nucleotide variant Cohen syndrome [RCV002635828] Chr8:99720549 [GRCh38]
Chr8:100732777 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5001T>A (p.Asp1667Glu) single nucleotide variant Cohen syndrome [RCV003069862] Chr8:99575709 [GRCh38]
Chr8:100587937 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3585G>A (p.Thr1195=) single nucleotide variant Cohen syndrome [RCV002658235] Chr8:99467553 [GRCh38]
Chr8:100479781 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs) duplication Cohen syndrome [RCV002943583] Chr8:99442494..99442495 [GRCh38]
Chr8:100454722..100454723 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.895G>A (p.Asp299Asn) single nucleotide variant Cohen syndrome [RCV002604381] Chr8:99115832 [GRCh38]
Chr8:100128060 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11220A>G (p.Ala3740=) single nucleotide variant Cohen syndrome [RCV003066839] Chr8:99868293 [GRCh38]
Chr8:100880521 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+12A>G single nucleotide variant Cohen syndrome [RCV003051040] Chr8:99766982 [GRCh38]
Chr8:100779210 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3443A>G (p.Glu1148Gly) single nucleotide variant Cohen syndrome [RCV003066937] Chr8:99442633 [GRCh38]
Chr8:100454861 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2571A>G (p.Glu857=) single nucleotide variant Cohen syndrome [RCV002944001] Chr8:99274253 [GRCh38]
Chr8:100286481 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2289C>A (p.Phe763Leu) single nucleotide variant Cohen syndrome [RCV003068190] Chr8:99170119 [GRCh38]
Chr8:100182347 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs) duplication Cohen syndrome [RCV003049866] Chr8:99148008..99148009 [GRCh38]
Chr8:100160236..100160237 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10481T>A (p.Ile3494Asn) single nucleotide variant Cohen syndrome [RCV003049868] Chr8:99853870 [GRCh38]
Chr8:100866098 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3108T>G (p.Val1036=) single nucleotide variant Cohen syndrome [RCV002943741] Chr8:99431562 [GRCh38]
Chr8:100443790 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-6G>T single nucleotide variant Cohen syndrome [RCV002725613] Chr8:99192870 [GRCh38]
Chr8:100205098 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8796T>A (p.Asn2932Lys) single nucleotide variant Cohen syndrome [RCV002655015] Chr8:99819924 [GRCh38]
Chr8:100832152 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2334-18T>A single nucleotide variant Cohen syndrome [RCV002583237] Chr8:99192858 [GRCh38]
Chr8:100205086 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9915C>A (p.Ala3305=) single nucleotide variant Cohen syndrome [RCV002605281] Chr8:99835711 [GRCh38]
Chr8:100847939 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9251C>G (p.Thr3084Ser) single nucleotide variant Inborn genetic diseases [RCV002722845] Chr8:99823899 [GRCh38]
Chr8:100836127 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5815T>C (p.Leu1939=) single nucleotide variant Cohen syndrome [RCV003092855] Chr8:99642405 [GRCh38]
Chr8:100654633 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1659A>T (p.Thr553=) single nucleotide variant Cohen syndrome [RCV002725832] Chr8:99142981 [GRCh38]
Chr8:100155209 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg) single nucleotide variant Cohen syndrome [RCV002583409]|Inborn genetic diseases [RCV002583410]|VPS13B-related disorder [RCV004744377] Chr8:99192953 [GRCh38]
Chr8:100205181 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11194C>T (p.Arg3732Trp) single nucleotide variant Cohen syndrome [RCV003069346] Chr8:99861925 [GRCh38]
Chr8:100874153 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4746-17T>C single nucleotide variant Cohen syndrome [RCV002603037] Chr8:99556433 [GRCh38]
Chr8:100568661 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9539T>C (p.Ile3180Thr) single nucleotide variant Cohen syndrome [RCV003066791] Chr8:99832577 [GRCh38]
Chr8:100844805 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1554T>G (p.Thr518=) single nucleotide variant Cohen syndrome [RCV002634504] Chr8:99135724 [GRCh38]
Chr8:100147952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2435A>G (p.Tyr812Cys) single nucleotide variant Cohen syndrome [RCV002655037] Chr8:99192977 [GRCh38]
Chr8:100205205 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys) single nucleotide variant Cohen syndrome [RCV003067447]|Inborn genetic diseases [RCV003067448] Chr8:99859397 [GRCh38]
Chr8:100871625 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu) single nucleotide variant Cohen syndrome [RCV003068265]|VPS13B-related disorder [RCV003404043] Chr8:99875619 [GRCh38]
Chr8:100887847 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6202G>T (p.Asp2068Tyr) single nucleotide variant Cohen syndrome [RCV003092513] Chr8:99699680 [GRCh38]
Chr8:100711908 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.728A>G (p.Glu243Gly) single nucleotide variant Cohen syndrome [RCV002603303] Chr8:99111245 [GRCh38]
Chr8:100123473 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10061+10A>T single nucleotide variant Cohen syndrome [RCV003050255] Chr8:99848904 [GRCh38]
Chr8:100861132 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8381C>A (p.Ser2794Tyr) single nucleotide variant Cohen syndrome [RCV002634019] Chr8:99818470 [GRCh38]
Chr8:100830698 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5656A>G (p.Lys1886Glu) single nucleotide variant Cohen syndrome [RCV002635154] Chr8:99642246 [GRCh38]
Chr8:100654474 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.762+11_762+12insA insertion Cohen syndrome [RCV003070082] Chr8:99111290..99111291 [GRCh38]
Chr8:100123518..100123519 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11778A>G (p.Gln3926=) single nucleotide variant Cohen syndrome [RCV003093674] Chr8:99875450 [GRCh38]
Chr8:100887678 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.981G>A (p.Gln327=) single nucleotide variant Cohen syndrome [RCV003093679] Chr8:99121220 [GRCh38]
Chr8:100133448 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer) deletion Cohen syndrome [RCV002604309] Chr8:99720374 [GRCh38]
Chr8:100732602 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr) single nucleotide variant Cohen syndrome [RCV002607339] Chr8:99391621 [GRCh38]
Chr8:100403849 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3669C>T (p.Val1223=) single nucleotide variant Cohen syndrome [RCV003071424] Chr8:99481601 [GRCh38]
Chr8:100493829 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4441C>T (p.Pro1481Ser) single nucleotide variant Cohen syndrome [RCV003072571] Chr8:99511320 [GRCh38]
Chr8:100523548 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10770C>T (p.Ser3590=) single nucleotide variant Cohen syndrome [RCV003052290] Chr8:99854159 [GRCh38]
Chr8:100866387 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6134T>C (p.Ile2045Thr) single nucleotide variant Cohen syndrome [RCV003072592] Chr8:99699612 [GRCh38]
Chr8:100711840 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.310G>A (p.Gly104Ser) single nucleotide variant Cohen syndrome [RCV002587621] Chr8:99096330 [GRCh38]
Chr8:100108558 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.993A>G (p.Gln331=) single nucleotide variant Cohen syndrome [RCV002603217] Chr8:99121232 [GRCh38]
Chr8:100133460 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6483C>T (p.Leu2161=) single nucleotide variant Cohen syndrome [RCV003049764] Chr8:99717199 [GRCh38]
Chr8:100729427 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8247C>T (p.Tyr2749=) single nucleotide variant Cohen syndrome [RCV002725374] Chr8:99817689 [GRCh38]
Chr8:100829917 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8710del (p.Val2904fs) deletion Cohen syndrome [RCV002726024] Chr8:99819500 [GRCh38]
Chr8:100831728 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9062T>C (p.Leu3021Pro) single nucleotide variant Cohen syndrome [RCV003069168]|VPS13B-related disorder [RCV004744567] Chr8:99821361 [GRCh38]
Chr8:100833589 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11601A>C (p.Ser3867=) single nucleotide variant Cohen syndrome [RCV002586709] Chr8:99871553 [GRCh38]
Chr8:100883781 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-11del deletion Cohen syndrome [RCV003071573] Chr8:99102942 [GRCh38]
Chr8:100115170 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1310T>C (p.Met437Thr) single nucleotide variant Cohen syndrome [RCV003072733] Chr8:99135022 [GRCh38]
Chr8:100147250 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5733T>G (p.Thr1911=) single nucleotide variant Cohen syndrome [RCV003049777] Chr8:99642323 [GRCh38]
Chr8:100654551 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2724G>A (p.Lys908=) single nucleotide variant Cohen syndrome [RCV002603880] Chr8:99275154 [GRCh38]
Chr8:100287382 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2872C>A (p.Pro958Thr) single nucleotide variant Cohen syndrome [RCV003069210] Chr8:99384255 [GRCh38]
Chr8:100396483 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10844C>A (p.Ala3615Asp) single nucleotide variant Cohen syndrome [RCV002609619] Chr8:99854233 [GRCh38]
Chr8:100866461 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2948C>A (p.Ala983Asp) single nucleotide variant Cohen syndrome [RCV002605066] Chr8:99391570 [GRCh38]
Chr8:100403798 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7634C>T (p.Pro2545Leu) single nucleotide variant Cohen syndrome [RCV003068528] Chr8:99778886 [GRCh38]
Chr8:100791114 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs) deletion Cohen syndrome [RCV003070412] Chr8:99870805..99870806 [GRCh38]
Chr8:100883033..100883034 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1554T>C (p.Thr518=) single nucleotide variant Cohen syndrome [RCV003070414]|VPS13B-related disorder [RCV003916749] Chr8:99135724 [GRCh38]
Chr8:100147952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1194G>A (p.Thr398=) single nucleotide variant Cohen syndrome [RCV002587804] Chr8:99121433 [GRCh38]
Chr8:100133661 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3705G>A (p.Lys1235=) single nucleotide variant Cohen syndrome [RCV003051842] Chr8:99481637 [GRCh38]
Chr8:100493865 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2004G>A (p.Met668Ile) single nucleotide variant Cohen syndrome [RCV003070478] Chr8:99148001 [GRCh38]
Chr8:100160229 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6047-5T>C single nucleotide variant Cohen syndrome [RCV002605809] Chr8:99699520 [GRCh38]
Chr8:100711748 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-6T>G single nucleotide variant Cohen syndrome [RCV003070686] Chr8:99818707 [GRCh38]
Chr8:100830935 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2965C>A (p.Pro989Thr) single nucleotide variant Cohen syndrome [RCV002587924] Chr8:99391587 [GRCh38]
Chr8:100403815 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6567G>A (p.Leu2189=) single nucleotide variant Cohen syndrome [RCV002610024] Chr8:99717283 [GRCh38]
Chr8:100729511 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4149T>C (p.Tyr1383=) single nucleotide variant Cohen syndrome [RCV003093357] Chr8:99502942 [GRCh38]
Chr8:100515170 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11970dup (p.Ala3991fs) duplication Cohen syndrome [RCV002583702] Chr8:99875639..99875640 [GRCh38]
Chr8:100887867..100887868 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1081G>T (p.Asp361Tyr) single nucleotide variant Cohen syndrome [RCV003069478] Chr8:99121320 [GRCh38]
Chr8:100133548 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8374A>T (p.Asn2792Tyr) single nucleotide variant Cohen syndrome [RCV002606782] Chr8:99818463 [GRCh38]
Chr8:100830691 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10061+10A>G single nucleotide variant Cohen syndrome [RCV002634375] Chr8:99848904 [GRCh38]
Chr8:100861132 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter) indel Cohen syndrome [RCV002605268] Chr8:99853933..99853934 [GRCh38]
Chr8:100866161..100866162 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.938-8A>G single nucleotide variant Cohen syndrome [RCV003093411] Chr8:99121169 [GRCh38]
Chr8:100133397 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys) single nucleotide variant Cohen syndrome [RCV003069542]|VPS13B-related disorder [RCV003404066] Chr8:99854230 [GRCh38]
Chr8:100866458 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6161G>C (p.Ser2054Thr) single nucleotide variant Cohen syndrome [RCV002588146] Chr8:99699639 [GRCh38]
Chr8:100711867 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9253A>G (p.Thr3085Ala) single nucleotide variant Inborn genetic diseases [RCV002652349] Chr8:99823901 [GRCh38]
Chr8:100836129 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser) single nucleotide variant Cohen syndrome [RCV002606985]|VPS13B-related disorder [RCV003427579] Chr8:99818503 [GRCh38]
Chr8:100830731 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs) deletion Cohen syndrome [RCV003073298] Chr8:99853578 [GRCh38]
Chr8:100865806 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10246G>A (p.Glu3416Lys) single nucleotide variant Cohen syndrome [RCV003066709] Chr8:99853635 [GRCh38]
Chr8:100865863 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2725T>G (p.Trp909Gly) single nucleotide variant Cohen syndrome [RCV003066717] Chr8:99275155 [GRCh38]
Chr8:100287383 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys) single nucleotide variant Cohen syndrome [RCV003068102]|VPS13B-related disorder [RCV004744554]|not provided [RCV003151910] Chr8:99511188 [GRCh38]
Chr8:100523416 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4870G>A (p.Glu1624Lys) single nucleotide variant Cohen syndrome [RCV002610794] Chr8:99556574 [GRCh38]
Chr8:100568802 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8504A>G (p.His2835Arg) single nucleotide variant Cohen syndrome [RCV002610802] Chr8:99818771 [GRCh38]
Chr8:100830999 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11994A>C (p.Ter3998Cys) single nucleotide variant Cohen syndrome [RCV002676793] Chr8:99875666 [GRCh38]
Chr8:100887894 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=) single nucleotide variant Cohen syndrome [RCV002584702]|VPS13B-related disorder [RCV004725533] Chr8:99859413 [GRCh38]
Chr8:100871641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3561C>G (p.Val1187=) single nucleotide variant Cohen syndrome [RCV002942870] Chr8:99467529 [GRCh38]
Chr8:100479757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11187C>G (p.Gly3729=) single nucleotide variant Cohen syndrome [RCV003049762] Chr8:99861918 [GRCh38]
Chr8:100874146 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8277G>A (p.Leu2759=) single nucleotide variant Cohen syndrome [RCV003092553] Chr8:99817719 [GRCh38]
Chr8:100829947 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3217G>A (p.Val1073Ile) single nucleotide variant Cohen syndrome [RCV002814423] Chr8:99442407 [GRCh38]
Chr8:100454635 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5264G>T (p.Gly1755Val) single nucleotide variant Cohen syndrome [RCV002588462] Chr8:99641854 [GRCh38]
Chr8:100654082 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.817A>G (p.Met273Val) single nucleotide variant Cohen syndrome [RCV002611030] Chr8:99115754 [GRCh38]
Chr8:100127982 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4157+15A>G single nucleotide variant Cohen syndrome [RCV003052399] Chr8:99502965 [GRCh38]
Chr8:100515193 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+9T>A single nucleotide variant Cohen syndrome [RCV002814619] Chr8:99766979 [GRCh38]
Chr8:100779207 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+4A>C single nucleotide variant Cohen syndrome [RCV002611260]|not specified [RCV004765685] Chr8:99835742 [GRCh38]
Chr8:100847970 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala) single nucleotide variant Cohen syndrome [RCV003071819]|VPS13B-related disorder [RCV003936523] Chr8:99835243 [GRCh38]
Chr8:100847471 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=) single nucleotide variant Cohen syndrome [RCV002635014]|VPS13B-related disorder [RCV003984268] Chr8:99820092 [GRCh38]
Chr8:100832320 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10808C>G (p.Ala3603Gly) single nucleotide variant Cohen syndrome [RCV002943991] Chr8:99854197 [GRCh38]
Chr8:100866425 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1651+3A>G single nucleotide variant Cohen syndrome [RCV003093017] Chr8:99136755 [GRCh38]
Chr8:100148983 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.580+8A>T single nucleotide variant Cohen syndrome [RCV003050227] Chr8:99103128 [GRCh38]
Chr8:100115356 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3961C>T (p.Arg1321Cys) single nucleotide variant Cohen syndrome [RCV002725355]|VPS13B-related disorder [RCV004744422] Chr8:99501777 [GRCh38]
Chr8:100514005 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5921C>T (p.Thr1974Ile) single nucleotide variant Cohen syndrome [RCV003068421] Chr8:99661366 [GRCh38]
Chr8:100673594 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2395C>A (p.Gln799Lys) single nucleotide variant Cohen syndrome [RCV002606323] Chr8:99192937 [GRCh38]
Chr8:100205165 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3434T>C (p.Ile1145Thr) single nucleotide variant Cohen syndrome [RCV003072375] Chr8:99442624 [GRCh38]
Chr8:100454852 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8490C>A (p.Asp2830Glu) single nucleotide variant Cohen syndrome [RCV003070153] Chr8:99818757 [GRCh38]
Chr8:100830985 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4538C>A (p.Thr1513Lys) single nucleotide variant Cohen syndrome [RCV003070156] Chr8:99511417 [GRCh38]
Chr8:100523645 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.539C>T (p.Thr180Ile) single nucleotide variant Cohen syndrome [RCV002585786] Chr8:99103079 [GRCh38]
Chr8:100115307 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4181T>C (p.Leu1394Ser) single nucleotide variant Cohen syndrome [RCV002587468] Chr8:99507793 [GRCh38]
Chr8:100520021 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6160A>C (p.Ser2054Arg) single nucleotide variant Cohen syndrome [RCV003072593] Chr8:99699638 [GRCh38]
Chr8:100711866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2640C>T (p.Ala880=) single nucleotide variant Cohen syndrome [RCV002612020] Chr8:99274322 [GRCh38]
Chr8:100286550 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8034G>T (p.Gln2678His) single nucleotide variant Cohen syndrome [RCV003070348] Chr8:99809467 [GRCh38]
Chr8:100821695 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4628T>C (p.Val1543Ala) single nucleotide variant Cohen syndrome [RCV002605227] Chr8:99511507 [GRCh38]
Chr8:100523735 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6015A>G (p.Thr2005=) single nucleotide variant Cohen syndrome [RCV003052020] Chr8:99661460 [GRCh38]
Chr8:100673688 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3490T>C (p.Tyr1164His) single nucleotide variant Cohen syndrome [RCV002606608] Chr8:99467458 [GRCh38]
Chr8:100479686 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5T>A (p.Leu2Gln) single nucleotide variant Cohen syndrome [RCV002602994] Chr8:99013793 [GRCh38]
Chr8:100026021 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4698G>A (p.Gln1566=) single nucleotide variant Cohen syndrome [RCV003067409] Chr8:99520963 [GRCh38]
Chr8:100533191 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6771A>G (p.Gln2257=) single nucleotide variant Cohen syndrome [RCV003068952] Chr8:99720458 [GRCh38]
Chr8:100732686 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4221G>A (p.Lys1407=) single nucleotide variant Cohen syndrome [RCV003073170] Chr8:99507833 [GRCh38]
Chr8:100520061 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2825G>A (p.Gly942Asp) single nucleotide variant Cohen syndrome [RCV002942317] Chr8:99384208 [GRCh38]
Chr8:100396436 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8062A>G (p.Ile2688Val) single nucleotide variant Inborn genetic diseases [RCV003277998] Chr8:99809495 [GRCh38]
Chr8:100821723 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2714A>G (p.His905Arg) single nucleotide variant not provided [RCV004780001] Chr8:99275144 [GRCh38]
Chr8:100287372 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs) deletion Cohen syndrome [RCV003226827] Chr8:99859450..99859468 [GRCh38]
Chr8:100871678..100871696 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6657+3C>T single nucleotide variant not specified [RCV003226826] Chr8:99717376 [GRCh38]
Chr8:100729604 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4166A>G (p.Glu1389Gly) single nucleotide variant Inborn genetic diseases [RCV003193729] Chr8:99507778 [GRCh38]
Chr8:100520006 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10132A>G (p.Thr3378Ala) single nucleotide variant not provided [RCV003159331] Chr8:99853521 [GRCh38]
Chr8:100865749 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5747C>G (p.Pro1916Arg) single nucleotide variant Inborn genetic diseases [RCV003211715] Chr8:99642337 [GRCh38]
Chr8:100654565 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10055C>T (p.Thr3352Ile) single nucleotide variant Inborn genetic diseases [RCV003193153] Chr8:99848888 [GRCh38]
Chr8:100861116 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7050+2243A>G single nucleotide variant Cohen syndrome [RCV003228639] Chr8:99723290 [GRCh38]
Chr8:100735518 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2006G>A (p.Gly669Glu) single nucleotide variant Cohen syndrome [RCV005101299]|Inborn genetic diseases [RCV003204419] Chr8:99148003 [GRCh38]
Chr8:100160231 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11957T>A (p.Met3986Lys) single nucleotide variant Cohen syndrome [RCV003224757] Chr8:99875629 [GRCh38]
Chr8:100887857 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4950-2A>G single nucleotide variant Cohen syndrome [RCV003134747] Chr8:99575656 [GRCh38]
Chr8:100587884 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val) single nucleotide variant Cohen syndrome [RCV003139281]|VPS13B-related disorder [RCV003946448] Chr8:99193054 [GRCh38]
Chr8:100205282 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2013+3A>G single nucleotide variant Cohen syndrome [RCV003139282] Chr8:99148013 [GRCh38]
Chr8:100160241 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile) single nucleotide variant Cohen syndrome [RCV003139283] Chr8:99431632 [GRCh38]
Chr8:100443860 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile) single nucleotide variant Cohen syndrome [RCV003139284] Chr8:99147888 [GRCh38]
Chr8:100160116 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4746-3794A>C single nucleotide variant Cohen syndrome [RCV003139285] Chr8:99552656 [GRCh38]
Chr8:100564884 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11392+771C>A single nucleotide variant Cohen syndrome [RCV003139286] Chr8:99869236 [GRCh38]
Chr8:100881464 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn) single nucleotide variant Cohen syndrome [RCV003139287] Chr8:99501754 [GRCh38]
Chr8:100513982 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8737G>T (p.Gly2913Trp) single nucleotide variant Inborn genetic diseases [RCV003260955] Chr8:99819527 [GRCh38]
Chr8:100831755 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys) single nucleotide variant Cohen syndrome [RCV003228675]|VPS13B-related disorder [RCV004741576] Chr8:99170088 [GRCh38]
Chr8:100182316 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4379C>G (p.Ser1460Cys) single nucleotide variant Inborn genetic diseases [RCV003211563] Chr8:99511258 [GRCh38]
Chr8:100523486 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8588C>G (p.Pro2863Arg) single nucleotide variant not provided [RCV003228253] Chr8:99818855 [GRCh38]
Chr8:100831083 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7145A>T (p.Gln2382Leu) single nucleotide variant Inborn genetic diseases [RCV003287165] Chr8:99766868 [GRCh38]
Chr8:100779096 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11500A>G (p.Met3834Val) single nucleotide variant Inborn genetic diseases [RCV003263477] Chr8:99871452 [GRCh38]
Chr8:100883680 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter) single nucleotide variant Cohen syndrome [RCV004334092]|not provided [RCV003327205] Chr8:99853691 [GRCh38]
Chr8:100865919 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7304C>T (p.Ala2435Val) single nucleotide variant not provided [RCV003327204] Chr8:99776831 [GRCh38]
Chr8:100789059 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs) microsatellite Cohen syndrome [RCV003328532] Chr8:99823902..99823908 [GRCh38]
Chr8:100836130..100836136 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.710G>C (p.Arg237Pro) single nucleotide variant not provided [RCV003327203] Chr8:99111227 [GRCh38]
Chr8:100123455 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1 copy number loss Cohen syndrome [RCV003329512] Chr8:100830629..100833766 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu) single nucleotide variant Cohen syndrome [RCV003336031] Chr8:99136696 [GRCh38]
Chr8:100148924 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser) single nucleotide variant Cohen syndrome [RCV003336053] Chr8:99776861 [GRCh38]
Chr8:100789089 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8126G>A (p.Cys2709Tyr) single nucleotide variant Cohen syndrome [RCV003336616] Chr8:99817568 [GRCh38]
Chr8:100829796 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8584G>A (p.Glu2862Lys) single nucleotide variant Inborn genetic diseases [RCV003357900] Chr8:99818851 [GRCh38]
Chr8:100831079 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3124A>G (p.Ile1042Val) single nucleotide variant VPS13B-related disorder [RCV003421182] Chr8:99431578 [GRCh38]
Chr8:100443806 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6091A>G (p.Ser2031Gly) single nucleotide variant Inborn genetic diseases [RCV003372517] Chr8:99699569 [GRCh38]
Chr8:100711797 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9161G>T (p.Gly3054Val) single nucleotide variant VPS13B-related disorder [RCV003420700] Chr8:99821460 [GRCh38]
Chr8:100833688 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8294G>A (p.Gly2765Glu) single nucleotide variant Inborn genetic diseases [RCV003355073]|not provided [RCV004780535] Chr8:99817736 [GRCh38]
Chr8:100829964 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3829A>G (p.Ser1277Gly) single nucleotide variant Inborn genetic diseases [RCV003367343] Chr8:99481761 [GRCh38]
Chr8:100493989 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.973C>T (p.Pro325Ser) single nucleotide variant Inborn genetic diseases [RCV003352556] Chr8:99121212 [GRCh38]
Chr8:100133440 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10190G>C (p.Cys3397Ser) single nucleotide variant Inborn genetic diseases [RCV003385476] Chr8:99853579 [GRCh38]
Chr8:100865807 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10778T>G (p.Val3593Gly) single nucleotide variant Inborn genetic diseases [RCV003361771] Chr8:99854167 [GRCh38]
Chr8:100866395 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10937T>G (p.Val3646Gly) single nucleotide variant Cohen syndrome [RCV003880228] Chr8:99859373 [GRCh38]
Chr8:100871601 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11855C>G (p.Pro3952Arg) single nucleotide variant Cohen syndrome [RCV003880231] Chr8:99875527 [GRCh38]
Chr8:100887755 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.938-17_938-16del deletion Cohen syndrome [RCV003874636] Chr8:99121160..99121161 [GRCh38]
Chr8:100133388..100133389 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9615-15T>C single nucleotide variant Cohen syndrome [RCV003875137] Chr8:99835182 [GRCh38]
Chr8:100847410 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+17T>A single nucleotide variant Cohen syndrome [RCV003872890] Chr8:99835755 [GRCh38]
Chr8:100847983 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4485A>G (p.Pro1495=) single nucleotide variant Cohen syndrome [RCV003875545] Chr8:99511364 [GRCh38]
Chr8:100523592 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu) single nucleotide variant Cohen syndrome [RCV003486287] Chr8:99121295 [GRCh38]
Chr8:100133523 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT indel Cohen syndrome [RCV003486514] Chr8:99832368..99832370 [GRCh38]
Chr8:100844596..100844598 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.413-19del deletion Cohen syndrome [RCV003872719] Chr8:99102934 [GRCh38]
Chr8:100115162 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.634C>T (p.Leu212Phe) single nucleotide variant not provided [RCV003481890] Chr8:99111151 [GRCh38]
Chr8:100123379 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2224G>A (p.Ala742Thr) single nucleotide variant not provided [RCV003481891] Chr8:99170054 [GRCh38]
Chr8:100182282 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8q22.2(chr8:99696998-100138056)x1 copy number loss not provided [RCV003483034] Chr8:99696998..100138056 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1206+24A>T single nucleotide variant VPS13B-related disorder [RCV003399586] Chr8:99121469 [GRCh38]
Chr8:100133697 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2-22.3(chr8:100446969-102315070)x1 copy number loss not provided [RCV003483035] Chr8:100446969..102315070 [GRCh37]
Chr8:8q22.2-22.3		 uncertain significance
NM_152564.5(VPS13B):c.5864T>C (p.Phe1955Ser) single nucleotide variant not provided [RCV003481892] Chr8:99642454 [GRCh38]
Chr8:100654682 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8423A>T (p.Asn2808Ile) single nucleotide variant Cohen syndrome [RCV003448850] Chr8:99818512 [GRCh38]
Chr8:100830740 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9247A>C (p.Lys3083Gln) single nucleotide variant not provided [RCV003482662] Chr8:99823895 [GRCh38]
Chr8:100836123 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4062A>C (p.Glu1354Asp) single nucleotide variant VPS13B-related disorder [RCV003400274] Chr8:99502855 [GRCh38]
Chr8:100515083 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2964G>A (p.Met988Ile) single nucleotide variant not provided [RCV004778129] Chr8:99391586 [GRCh38]
Chr8:100403814 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6955C>T (p.Pro2319Ser) single nucleotide variant Cohen syndrome [RCV003825502] Chr8:99720952 [GRCh38]
Chr8:100733180 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=) single nucleotide variant Cohen syndrome [RCV003605876]|not provided [RCV003423956] Chr8:99481697 [GRCh38]
Chr8:100493925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10616dup (p.Gly3539_Lys3540insTer) duplication VPS13B-related disorder [RCV003412348] Chr8:99854000..99854001 [GRCh38]
Chr8:100866228..100866229 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3073A>C (p.Thr1025Pro) single nucleotide variant VPS13B-related disorder [RCV003408366] Chr8:99391695 [GRCh38]
Chr8:100403923 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg) single nucleotide variant Cohen syndrome [RCV003412555] Chr8:99481699 [GRCh38]
Chr8:100493927 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7432G>T (p.Ala2478Ser) single nucleotide variant VPS13B-related disorder [RCV003399892] Chr8:99778684 [GRCh38]
Chr8:100790912 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8134T>C (p.Leu2712=) single nucleotide variant not provided [RCV003423957] Chr8:99817576 [GRCh38]
Chr8:100829804 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8457C>T (p.Ser2819=) single nucleotide variant not provided [RCV003435567] Chr8:99818724 [GRCh38]
Chr8:100830952 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+34C>G single nucleotide variant VPS13B-related disorder [RCV003399460] Chr8:99121479 [GRCh38]
Chr8:100133707 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7918T>G (p.Trp2640Gly) single nucleotide variant VPS13B-related disorder [RCV003410565] Chr8:99784453 [GRCh38]
Chr8:100796681 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3727A>G (p.Arg1243Gly) single nucleotide variant VPS13B-related disorder [RCV003402664] Chr8:99481659 [GRCh38]
Chr8:100493887 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8474G>A (p.Arg2825Lys) single nucleotide variant VPS13B-related disorder [RCV003414113] Chr8:99818741 [GRCh38]
Chr8:100830969 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.*264_*265dup duplication not provided [RCV003435568] Chr8:99875929..99875930 [GRCh38]
Chr8:100888157..100888158 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11319G>A (p.Val3773=) single nucleotide variant Cohen syndrome [RCV003605422] Chr8:99868392 [GRCh38]
Chr8:100880620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4518T>G (p.Gly1506=) single nucleotide variant Cohen syndrome [RCV003605438] Chr8:99511397 [GRCh38]
Chr8:100523625 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7306C>T (p.Leu2436=) single nucleotide variant Cohen syndrome [RCV003605449] Chr8:99776833 [GRCh38]
Chr8:100789061 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+1G>T single nucleotide variant Cohen syndrome [RCV003605472] Chr8:99575785 [GRCh38]
Chr8:100588013 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4950-20T>C single nucleotide variant Cohen syndrome [RCV003605478] Chr8:99575638 [GRCh38]
Chr8:100587866 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1652-12G>C single nucleotide variant Cohen syndrome [RCV003605481] Chr8:99142962 [GRCh38]
Chr8:100155190 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs) deletion Cohen syndrome [RCV003605482] Chr8:99835541 [GRCh38]
Chr8:100847769 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8346C>T (p.Tyr2782=) single nucleotide variant Cohen syndrome [RCV003605486] Chr8:99817788 [GRCh38]
Chr8:100830016 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=) single nucleotide variant Cohen syndrome [RCV003605491]|VPS13B-related disorder [RCV004741668] Chr8:99142984 [GRCh38]
Chr8:100155212 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs) deletion Cohen syndrome [RCV003605503] Chr8:99778748..99778751 [GRCh38]
Chr8:100790976..100790979 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.938-17T>G single nucleotide variant Cohen syndrome [RCV003606993] Chr8:99121160 [GRCh38]
Chr8:100133388 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3210+16G>T single nucleotide variant Cohen syndrome [RCV003826785] Chr8:99431680 [GRCh38]
Chr8:100443908 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+15A>G single nucleotide variant Cohen syndrome [RCV003605513] Chr8:99135748 [GRCh38]
Chr8:100147976 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11139G>A (p.Glu3713=) single nucleotide variant Cohen syndrome [RCV003605520] Chr8:99861870 [GRCh38]
Chr8:100874098 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-1G>A single nucleotide variant Cohen syndrome [RCV003605534] Chr8:99467413 [GRCh38]
Chr8:100479641 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8475_8477delinsTCA (p.Arg2825_Ser2826delinsSerHis) indel Cohen syndrome [RCV003605541] Chr8:99818742..99818744 [GRCh38]
Chr8:100830970..100830972 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.816T>C (p.Pro272=) single nucleotide variant Cohen syndrome [RCV003605554] Chr8:99115753 [GRCh38]
Chr8:100127981 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+15T>C single nucleotide variant Cohen syndrome [RCV003605555] Chr8:99193072 [GRCh38]
Chr8:100205300 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4671G>A (p.Lys1557=) single nucleotide variant Cohen syndrome [RCV003605558]|VPS13B-related disorder [RCV004741672] Chr8:99520936 [GRCh38]
Chr8:100533164 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6213A>G (p.Pro2071=) single nucleotide variant Cohen syndrome [RCV003605562] Chr8:99699691 [GRCh38]
Chr8:100711919 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6054C>G (p.Val2018=) single nucleotide variant Cohen syndrome [RCV003605574] Chr8:99699532 [GRCh38]
Chr8:100711760 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.762+7A>G single nucleotide variant Cohen syndrome [RCV003605592] Chr8:99111286 [GRCh38]
Chr8:100123514 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8622-11C>A single nucleotide variant Cohen syndrome [RCV003605597] Chr8:99819401 [GRCh38]
Chr8:100831629 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7429+14del deletion Cohen syndrome [RCV003607005] Chr8:99776963 [GRCh38]
Chr8:100789191 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8994+16del deletion Cohen syndrome [RCV003605885] Chr8:99820133 [GRCh38]
Chr8:100832361 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.10128C>T (p.Asp3376=) single nucleotide variant Cohen syndrome [RCV003849262] Chr8:99853517 [GRCh38]
Chr8:100865745 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3168T>C (p.Phe1056=) single nucleotide variant Cohen syndrome [RCV003605969] Chr8:99431622 [GRCh38]
Chr8:100443850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6927A>G (p.Pro2309=) single nucleotide variant Cohen syndrome [RCV003606004] Chr8:99720924 [GRCh38]
Chr8:100733152 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8097+20T>C single nucleotide variant Cohen syndrome [RCV003606006] Chr8:99809550 [GRCh38]
Chr8:100821778 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2283C>T (p.Pro761=) single nucleotide variant Cohen syndrome [RCV003606097] Chr8:99170113 [GRCh38]
Chr8:100182341 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2935-10C>T single nucleotide variant Cohen syndrome [RCV003605887] Chr8:99391547 [GRCh38]
Chr8:100403775 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter) single nucleotide variant Cohen syndrome [RCV003605893] Chr8:99699546 [GRCh38]
Chr8:100711774 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3083-7_3083-6dup duplication Cohen syndrome [RCV003605899] Chr8:99431529..99431530 [GRCh38]
Chr8:100443757..100443758 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2103A>G (p.Glu701=) single nucleotide variant Cohen syndrome [RCV003605919] Chr8:99156638 [GRCh38]
Chr8:100168866 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-19G>T single nucleotide variant Cohen syndrome [RCV003606034] Chr8:99134996 [GRCh38]
Chr8:100147224 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4401T>C (p.Ile1467=) single nucleotide variant Cohen syndrome [RCV003606150] Chr8:99511280 [GRCh38]
Chr8:100523508 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1014T>C (p.Asp338=) single nucleotide variant Cohen syndrome [RCV003606182] Chr8:99121253 [GRCh38]
Chr8:100133481 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6658-12A>G single nucleotide variant Cohen syndrome [RCV003605980] Chr8:99720333 [GRCh38]
Chr8:100732561 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+17A>T single nucleotide variant Cohen syndrome [RCV003605986] Chr8:99871714 [GRCh38]
Chr8:100883942 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6865+17T>A single nucleotide variant Cohen syndrome [RCV003605992] Chr8:99720569 [GRCh38]
Chr8:100732797 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter) single nucleotide variant Cohen syndrome [RCV003606222] Chr8:99778807 [GRCh38]
Chr8:100791035 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6658-13T>G single nucleotide variant Cohen syndrome [RCV003606065] Chr8:99720332 [GRCh38]
Chr8:100732560 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-13T>C single nucleotide variant Cohen syndrome [RCV003606096] Chr8:99641798 [GRCh38]
Chr8:100654026 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5277C>G (p.Thr1759=) single nucleotide variant Cohen syndrome [RCV003606101] Chr8:99641867 [GRCh38]
Chr8:100654095 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496-12C>T single nucleotide variant Cohen syndrome [RCV003606130] Chr8:99871436 [GRCh38]
Chr8:100883664 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.937+1G>A single nucleotide variant Cohen syndrome [RCV003606269] Chr8:99115875 [GRCh38]
Chr8:100128103 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3960A>G (p.Gly1320=) single nucleotide variant Cohen syndrome [RCV003606283] Chr8:99501776 [GRCh38]
Chr8:100514004 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs) duplication Cohen syndrome [RCV003606205] Chr8:99135603..99135604 [GRCh38]
Chr8:100147831..100147832 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10461C>G (p.Gly3487=) single nucleotide variant Cohen syndrome [RCV003606311] Chr8:99853850 [GRCh38]
Chr8:100866078 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-17_6047-16del microsatellite Cohen syndrome [RCV003606327] Chr8:99699505..99699506 [GRCh38]
Chr8:100711733..100711734 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-15T>C single nucleotide variant Cohen syndrome [RCV003606335] Chr8:99859289 [GRCh38]
Chr8:100871517 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9354T>A (p.Ala3118=) single nucleotide variant Cohen syndrome [RCV003606346] Chr8:99832392 [GRCh38]
Chr8:100844620 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7779+9A>G single nucleotide variant Cohen syndrome [RCV003606368] Chr8:99779040 [GRCh38]
Chr8:100791268 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844-15T>A single nucleotide variant Cohen syndrome [RCV003606016] Chr8:99147826 [GRCh38]
Chr8:100160054 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8367A>G (p.Pro2789=) single nucleotide variant Cohen syndrome [RCV003606028] Chr8:99818456 [GRCh38]
Chr8:100830684 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11393-16_11393-13del deletion Cohen syndrome [RCV003829583] Chr8:99870766..99870769 [GRCh38]
Chr8:100882994..100882997 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6930G>T (p.Gly2310=) single nucleotide variant Cohen syndrome [RCV003606381] Chr8:99720927 [GRCh38]
Chr8:100733155 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6249C>T (p.Pro2083=) single nucleotide variant Cohen syndrome [RCV003606455] Chr8:99699727 [GRCh38]
Chr8:100711955 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs) duplication Cohen syndrome [RCV003606480] Chr8:99817656..99817657 [GRCh38]
Chr8:100829884..100829885 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8268G>C (p.Leu2756=) single nucleotide variant Cohen syndrome [RCV003849063] Chr8:99817710 [GRCh38]
Chr8:100829938 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2825-13T>C single nucleotide variant Cohen syndrome [RCV003606289] Chr8:99384195 [GRCh38]
Chr8:100396423 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-10A>C single nucleotide variant Cohen syndrome [RCV003606308] Chr8:99818703 [GRCh38]
Chr8:100830931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs) duplication Cohen syndrome [RCV003606330] Chr8:99818788..99818789 [GRCh38]
Chr8:100831016..100831017 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10959G>C (p.Pro3653=) single nucleotide variant Cohen syndrome [RCV003606356] Chr8:99859395 [GRCh38]
Chr8:100871623 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8098-8T>A single nucleotide variant Cohen syndrome [RCV003606484] Chr8:99817532 [GRCh38]
Chr8:100829760 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11769G>A (p.Leu3923=) single nucleotide variant Cohen syndrome [RCV003606485] Chr8:99875441 [GRCh38]
Chr8:100887669 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5763T>C (p.Thr1921=) single nucleotide variant Cohen syndrome [RCV003606531] Chr8:99642353 [GRCh38]
Chr8:100654581 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.225T>C (p.Gly75=) single nucleotide variant Cohen syndrome [RCV003606577] Chr8:99038500 [GRCh38]
Chr8:100050728 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+10A>G single nucleotide variant Cohen syndrome [RCV003876827] Chr8:99871707 [GRCh38]
Chr8:100883935 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6612A>G (p.Gln2204=) single nucleotide variant Cohen syndrome [RCV003606401] Chr8:99717328 [GRCh38]
Chr8:100729556 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4170G>A (p.Glu1390=) single nucleotide variant Cohen syndrome [RCV003606404] Chr8:99507782 [GRCh38]
Chr8:100520010 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8621+20A>G single nucleotide variant Cohen syndrome [RCV003606410] Chr8:99818908 [GRCh38]
Chr8:100831136 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2825-14A>G single nucleotide variant Cohen syndrome [RCV003606648] Chr8:99384194 [GRCh38]
Chr8:100396422 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-8G>C single nucleotide variant Cohen syndrome [RCV003606682] Chr8:99431529 [GRCh38]
Chr8:100443757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter) single nucleotide variant Cohen syndrome [RCV003606462] Chr8:99766907 [GRCh38]
Chr8:100779135 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7137T>C (p.Cys2379=) single nucleotide variant Cohen syndrome [RCV003606488] Chr8:99766860 [GRCh38]
Chr8:100779088 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4745+10T>C single nucleotide variant Cohen syndrome [RCV003606508] Chr8:99521020 [GRCh38]
Chr8:100533248 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10800C>T (p.Phe3600=) single nucleotide variant Cohen syndrome [RCV003606524] Chr8:99854189 [GRCh38]
Chr8:100866417 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8581A>G (p.Ile2861Val) single nucleotide variant Cohen syndrome [RCV003830888] Chr8:99818848 [GRCh38]
Chr8:100831076 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8793-19G>A single nucleotide variant Cohen syndrome [RCV003882098] Chr8:99819902 [GRCh38]
Chr8:100832130 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3082+18dup duplication Cohen syndrome [RCV003606718] Chr8:99391721..99391722 [GRCh38]
Chr8:100403949..100403950 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10389C>A (p.Leu3463=) single nucleotide variant Cohen syndrome [RCV003606741] Chr8:99853778 [GRCh38]
Chr8:100866006 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-13A>C single nucleotide variant Cohen syndrome [RCV003606766] Chr8:99821281 [GRCh38]
Chr8:100833509 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2116A>T (p.Met706Leu) single nucleotide variant Cohen syndrome [RCV003606771] Chr8:99156651 [GRCh38]
Chr8:100168879 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4248C>T (p.Gly1416=) single nucleotide variant Cohen syndrome [RCV003606676] Chr8:99511127 [GRCh38]
Chr8:100523355 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844-12T>A single nucleotide variant Cohen syndrome [RCV003606661] Chr8:99147829 [GRCh38]
Chr8:100160057 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1761T>C (p.Asp587=) single nucleotide variant Cohen syndrome [RCV003606714] Chr8:99143083 [GRCh38]
Chr8:100155311 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8883G>A (p.Leu2961=) single nucleotide variant Cohen syndrome [RCV003606552] Chr8:99820011 [GRCh38]
Chr8:100832239 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter) single nucleotide variant Cohen syndrome [RCV003606561] Chr8:99871590 [GRCh38]
Chr8:100883818 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6046+17A>G single nucleotide variant Cohen syndrome [RCV003605130] Chr8:99661508 [GRCh38]
Chr8:100673736 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5145G>A (p.Val1715=) single nucleotide variant Cohen syndrome [RCV003605156] Chr8:99577558 [GRCh38]
Chr8:100589786 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8790C>T (p.Asp2930=) single nucleotide variant Cohen syndrome [RCV003605160] Chr8:99819580 [GRCh38]
Chr8:100831808 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1596G>T (p.Arg532=) single nucleotide variant Cohen syndrome [RCV003606826] Chr8:99136697 [GRCh38]
Chr8:100148925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5814C>A (p.Ser1938=) single nucleotide variant Cohen syndrome [RCV003606858] Chr8:99642404 [GRCh38]
Chr8:100654632 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9783C>A (p.Ser3261=) single nucleotide variant Cohen syndrome [RCV003606868]|VPS13B-related disorder [RCV004741697] Chr8:99835579 [GRCh38]
Chr8:100847807 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-15_9331-3del deletion Cohen syndrome [RCV003828974] Chr8:99832342..99832354 [GRCh38]
Chr8:100844570..100844582 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-10A>C single nucleotide variant Cohen syndrome [RCV003605124] Chr8:99821284 [GRCh38]
Chr8:100833512 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10272T>C (p.Cys3424=) single nucleotide variant Cohen syndrome [RCV003605151] Chr8:99853661 [GRCh38]
Chr8:100865889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8621+14C>A single nucleotide variant Cohen syndrome [RCV003605178] Chr8:99818902 [GRCh38]
Chr8:100831130 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+18G>A single nucleotide variant Cohen syndrome [RCV003605198] Chr8:99854274 [GRCh38]
Chr8:100866502 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5616A>G (p.Ala1872=) single nucleotide variant Cohen syndrome [RCV003605202] Chr8:99642206 [GRCh38]
Chr8:100654434 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+719A>G single nucleotide variant Cohen syndrome [RCV003605239] Chr8:99507922 [GRCh38]
Chr8:100520150 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-20_5221-16del deletion Cohen syndrome [RCV003605293] Chr8:99641787..99641791 [GRCh38]
Chr8:100654015..100654019 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter) single nucleotide variant Cohen syndrome [RCV003606960] Chr8:99192987 [GRCh38]
Chr8:100205215 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4900A>G (p.Thr1634Ala) single nucleotide variant Cohen syndrome [RCV003606760]|VPS13B-related disorder [RCV004741688] Chr8:99556604 [GRCh38]
Chr8:100568832 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6957T>C (p.Pro2319=) single nucleotide variant Cohen syndrome [RCV003606784] Chr8:99720954 [GRCh38]
Chr8:100733182 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-18A>G single nucleotide variant Cohen syndrome [RCV003606788] Chr8:99818695 [GRCh38]
Chr8:100830923 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2157T>C (p.Thr719=) single nucleotide variant Cohen syndrome [RCV003606815] Chr8:99156692 [GRCh38]
Chr8:100168920 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1302+19A>T single nucleotide variant Cohen syndrome [RCV003605336] Chr8:99134746 [GRCh38]
Chr8:100146974 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2778C>T (p.Ala926=) single nucleotide variant Cohen syndrome [RCV003605338] Chr8:99275208 [GRCh38]
Chr8:100287436 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter) single nucleotide variant Cohen syndrome [RCV003605370] Chr8:99507777 [GRCh38]
Chr8:100520005 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs) insertion Cohen syndrome [RCV003605392] Chr8:99870845..99870846 [GRCh38]
Chr8:100883073..100883074 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10062-13del deletion Cohen syndrome [RCV003605413] Chr8:99853436 [GRCh38]
Chr8:100865664 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2547T>G (p.Leu849=) single nucleotide variant Cohen syndrome [RCV003606988] Chr8:99274229 [GRCh38]
Chr8:100286457 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-17T>G single nucleotide variant Cohen syndrome [RCV003605309] Chr8:99467397 [GRCh38]
Chr8:100479625 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-10T>C single nucleotide variant Cohen syndrome [RCV003605318] Chr8:99192866 [GRCh38]
Chr8:100205094 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8621+15C>T single nucleotide variant Cohen syndrome [RCV003605367] Chr8:99818903 [GRCh38]
Chr8:100831131 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9723T>C (p.Leu3241=) single nucleotide variant Cohen syndrome [RCV003605368] Chr8:99835305 [GRCh38]
Chr8:100847533 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+10T>C single nucleotide variant Cohen syndrome [RCV003605388] Chr8:99661501 [GRCh38]
Chr8:100673729 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs) deletion Cohen syndrome [RCV003605394] Chr8:99038436..99038439 [GRCh38]
Chr8:100050664..100050667 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6765G>A (p.Val2255=) single nucleotide variant Cohen syndrome [RCV003606824] Chr8:99720452 [GRCh38]
Chr8:100732680 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1712A>G (p.Glu571Gly) single nucleotide variant Cohen syndrome [RCV003606848] Chr8:99143034 [GRCh38]
Chr8:100155262 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10061+20C>T single nucleotide variant Cohen syndrome [RCV003606861] Chr8:99848914 [GRCh38]
Chr8:100861142 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6455-15G>A single nucleotide variant Cohen syndrome [RCV003606890] Chr8:99717156 [GRCh38]
Chr8:100729384 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+18T>C single nucleotide variant Cohen syndrome [RCV003606897] Chr8:99193075 [GRCh38]
Chr8:100205303 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.363A>T (p.Lys121Asn) single nucleotide variant Cohen syndrome [RCV003605445] Chr8:99096383 [GRCh38]
Chr8:100108611 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9708T>C (p.Cys3236=) single nucleotide variant Cohen syndrome [RCV003605485] Chr8:99835290 [GRCh38]
Chr8:100847518 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+8A>G single nucleotide variant Cohen syndrome [RCV003605509] Chr8:99038574 [GRCh38]
Chr8:100050802 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4745+1G>C single nucleotide variant Cohen syndrome [RCV003605527] Chr8:99521011 [GRCh38]
Chr8:100533239 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter) single nucleotide variant Cohen syndrome [RCV003606351] Chr8:99121273 [GRCh38]
Chr8:100133501 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.291+10T>A single nucleotide variant Cohen syndrome [RCV003606354] Chr8:99038576 [GRCh38]
Chr8:100050804 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5151A>G (p.Gln1717=) single nucleotide variant Cohen syndrome [RCV003606362] Chr8:99577564 [GRCh38]
Chr8:100589792 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5908+7A>C single nucleotide variant Cohen syndrome [RCV003878941] Chr8:99642505 [GRCh38]
Chr8:100654733 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9330+8A>T single nucleotide variant Cohen syndrome [RCV003605498] Chr8:99823986 [GRCh38]
Chr8:100836214 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-5C>A single nucleotide variant Cohen syndrome [RCV003605515] Chr8:99501682 [GRCh38]
Chr8:100513910 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5805C>T (p.Ser1935=) single nucleotide variant Cohen syndrome [RCV003606399] Chr8:99642395 [GRCh38]
Chr8:100654623 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs) deletion Cohen syndrome [RCV003606412] Chr8:99511292 [GRCh38]
Chr8:100523520 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3082+19A>G single nucleotide variant Cohen syndrome [RCV003605545] Chr8:99391723 [GRCh38]
Chr8:100403951 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5721A>G (p.Ala1907=) single nucleotide variant Cohen syndrome [RCV003605557] Chr8:99642311 [GRCh38]
Chr8:100654539 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4272C>A (p.Leu1424=) single nucleotide variant Cohen syndrome [RCV003605560] Chr8:99511151 [GRCh38]
Chr8:100523379 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3822A>G (p.Pro1274=) single nucleotide variant Cohen syndrome [RCV003605570] Chr8:99481754 [GRCh38]
Chr8:100493982 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7429+17C>T single nucleotide variant Cohen syndrome [RCV003605571] Chr8:99776973 [GRCh38]
Chr8:100789201 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6882del (p.Val2296fs) deletion Cohen syndrome [RCV003605589] Chr8:99720879 [GRCh38]
Chr8:100733107 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7941+18T>A single nucleotide variant Cohen syndrome [RCV003606422] Chr8:99784494 [GRCh38]
Chr8:100796722 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-18C>T single nucleotide variant Cohen syndrome [RCV003606465] Chr8:99577472 [GRCh38]
Chr8:100589700 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2333+13T>C single nucleotide variant Cohen syndrome [RCV003606586] Chr8:99170176 [GRCh38]
Chr8:100182404 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+10T>C single nucleotide variant Cohen syndrome [RCV003606592] Chr8:99766980 [GRCh38]
Chr8:100779208 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5736T>C (p.Ile1912=) single nucleotide variant Cohen syndrome [RCV003606601] Chr8:99642326 [GRCh38]
Chr8:100654554 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7051-13del deletion Cohen syndrome [RCV003824649] Chr8:99766754 [GRCh38]
Chr8:100778982 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys) single nucleotide variant Cohen syndrome [RCV003486286] Chr8:99848892 [GRCh38]
Chr8:100861120 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7416C>T (p.Asp2472=) single nucleotide variant Cohen syndrome [RCV003605600] Chr8:99776943 [GRCh38]
Chr8:100789171 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.95del (p.Gly32fs) deletion Cohen syndrome [RCV003606469] Chr8:99013880 [GRCh38]
Chr8:100026108 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5559A>G (p.Pro1853=) single nucleotide variant Cohen syndrome [RCV003606512] Chr8:99642149 [GRCh38]
Chr8:100654377 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+13T>C single nucleotide variant Cohen syndrome [RCV003606514] Chr8:99038579 [GRCh38]
Chr8:100050807 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3516A>C (p.Thr1172=) single nucleotide variant Cohen syndrome [RCV003606629] Chr8:99467484 [GRCh38]
Chr8:100479712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-14T>C single nucleotide variant Cohen syndrome [RCV003606647] Chr8:99699511 [GRCh38]
Chr8:100711739 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-13dup duplication Cohen syndrome [RCV003606700] Chr8:99501673..99501674 [GRCh38]
Chr8:100513901..100513902 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.504C>A (p.Val168=) single nucleotide variant Cohen syndrome [RCV003606723] Chr8:99103044 [GRCh38]
Chr8:100115272 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9117G>A (p.Val3039=) single nucleotide variant Cohen syndrome [RCV003606729] Chr8:99821416 [GRCh38]
Chr8:100833644 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+14A>T single nucleotide variant Cohen syndrome [RCV003881843] Chr8:99511526 [GRCh38]
Chr8:100523754 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2940T>C (p.Pro980=) single nucleotide variant Cohen syndrome [RCV003606523] Chr8:99391562 [GRCh38]
Chr8:100403790 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8253A>G (p.Leu2751=) single nucleotide variant Cohen syndrome [RCV003828843] Chr8:99817695 [GRCh38]
Chr8:100829923 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+12A>G single nucleotide variant Cohen syndrome [RCV003606659] Chr8:99835750 [GRCh38]
Chr8:100847978 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7422A>C (p.Leu2474=) single nucleotide variant Cohen syndrome [RCV003606581] Chr8:99776949 [GRCh38]
Chr8:100789177 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4723G>A (p.Val1575Ile) single nucleotide variant Cohen syndrome [RCV003606594] Chr8:99520988 [GRCh38]
Chr8:100533216 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10325C>T (p.Ala3442Val) single nucleotide variant Cohen syndrome [RCV003606616] Chr8:99853714 [GRCh38]
Chr8:100865942 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.192A>G (p.Glu64=) single nucleotide variant Cohen syndrome [RCV003606839] Chr8:99038467 [GRCh38]
Chr8:100050695 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9942+7G>A single nucleotide variant Cohen syndrome [RCV003606865] Chr8:99835745 [GRCh38]
Chr8:100847973 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7089G>A (p.Lys2363=) single nucleotide variant Cohen syndrome [RCV003606873] Chr8:99766812 [GRCh38]
Chr8:100779040 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9184-15T>C single nucleotide variant Cohen syndrome [RCV003606888] Chr8:99823817 [GRCh38]
Chr8:100836045 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7599G>A (p.Glu2533=) single nucleotide variant Cohen syndrome [RCV003605910] Chr8:99778851 [GRCh38]
Chr8:100791079 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3445+2T>A single nucleotide variant Cohen syndrome [RCV003605911] Chr8:99442637 [GRCh38]
Chr8:100454865 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9330+16C>G single nucleotide variant Cohen syndrome [RCV003605923] Chr8:99823994 [GRCh38]
Chr8:100836222 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11746-15_11746-11dup duplication Cohen syndrome [RCV003605928] Chr8:99875400..99875401 [GRCh38]
Chr8:100887628..100887629 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7051-13T>A single nucleotide variant Cohen syndrome [RCV003605936] Chr8:99766761 [GRCh38]
Chr8:100778989 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6714T>C (p.Asn2238=) single nucleotide variant Cohen syndrome [RCV003606628] Chr8:99720401 [GRCh38]
Chr8:100732629 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8853A>T (p.Pro2951=) single nucleotide variant Cohen syndrome [RCV003606632] Chr8:99819981 [GRCh38]
Chr8:100832209 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter) single nucleotide variant Cohen syndrome [RCV003606685] Chr8:99875448 [GRCh38]
Chr8:100887676 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3663C>T (p.Pro1221=) single nucleotide variant Cohen syndrome [RCV003606909] Chr8:99467631 [GRCh38]
Chr8:100479859 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9G>A (p.Glu3=) single nucleotide variant Cohen syndrome [RCV003606933] Chr8:99013797 [GRCh38]
Chr8:100026025 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7533G>A (p.Gln2511=) single nucleotide variant Cohen syndrome [RCV003606942] Chr8:99778785 [GRCh38]
Chr8:100791013 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5463C>A (p.Ile1821=) single nucleotide variant Cohen syndrome [RCV003830591] Chr8:99642053 [GRCh38]
Chr8:100654281 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7941+15C>A single nucleotide variant Cohen syndrome [RCV003605962] Chr8:99784491 [GRCh38]
Chr8:100796719 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter) single nucleotide variant Cohen syndrome [RCV003605973] Chr8:99520916 [GRCh38]
Chr8:100533144 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs) deletion Cohen syndrome [RCV003605995] Chr8:99809448 [GRCh38]
Chr8:100821676 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10299T>C (p.Leu3433=) single nucleotide variant Cohen syndrome [RCV003606721] Chr8:99853688 [GRCh38]
Chr8:100865916 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7780-22_7780-19del deletion Cohen syndrome [RCV003606722]|VPS13B-related disorder [RCV004741681] Chr8:99784292..99784295 [GRCh38]
Chr8:100796520..100796523 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5277C>T (p.Thr1759=) single nucleotide variant Cohen syndrome [RCV003607004] Chr8:99641867 [GRCh38]
Chr8:100654095 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+19T>C single nucleotide variant Cohen syndrome [RCV003607008] Chr8:99274351 [GRCh38]
Chr8:100286579 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9222T>A (p.Gly3074=) single nucleotide variant Cohen syndrome [RCV003607013] Chr8:99823870 [GRCh38]
Chr8:100836098 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.721A>G (p.Thr241Ala) single nucleotide variant Cohen syndrome [RCV003879216] Chr8:99111238 [GRCh38]
Chr8:100123466 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3082+14A>G single nucleotide variant Cohen syndrome [RCV003882125] Chr8:99391718 [GRCh38]
Chr8:100403946 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3667-13_3667-11del deletion Cohen syndrome [RCV003606038] Chr8:99481584..99481586 [GRCh38]
Chr8:100493812..100493814 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala) single nucleotide variant Cohen syndrome [RCV003606077] Chr8:99778925 [GRCh38]
Chr8:100791153 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.11746-10_11746-3dup duplication Cohen syndrome [RCV003606732] Chr8:99875406..99875407 [GRCh38]
Chr8:100887634..100887635 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+12T>C single nucleotide variant Cohen syndrome [RCV003606748] Chr8:99556665 [GRCh38]
Chr8:100568893 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2013+15T>C single nucleotide variant Cohen syndrome [RCV003606754] Chr8:99148025 [GRCh38]
Chr8:100160253 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10638G>A (p.Gln3546=) single nucleotide variant Cohen syndrome [RCV003606761] Chr8:99854027 [GRCh38]
Chr8:100866255 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter) single nucleotide variant Cohen syndrome [RCV003605107] Chr8:99013930 [GRCh38]
Chr8:100026158 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2142G>C (p.Val714=) single nucleotide variant Cohen syndrome [RCV003605111] Chr8:99156677 [GRCh38]
Chr8:100168905 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7449G>A (p.Gln2483=) single nucleotide variant Cohen syndrome [RCV003605121] Chr8:99778701 [GRCh38]
Chr8:100790929 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6865+14G>C single nucleotide variant Cohen syndrome [RCV003606085] Chr8:99720566 [GRCh38]
Chr8:100732794 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter) single nucleotide variant Cohen syndrome [RCV003606086] Chr8:99817582 [GRCh38]
Chr8:100829810 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7186G>A (p.Val2396Ile) single nucleotide variant Cohen syndrome [RCV003606103] Chr8:99766909 [GRCh38]
Chr8:100779137 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9742+15A>G single nucleotide variant Cohen syndrome [RCV003605132] Chr8:99835339 [GRCh38]
Chr8:100847567 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4042+11C>G single nucleotide variant Cohen syndrome [RCV003605145] Chr8:99501869 [GRCh38]
Chr8:100514097 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2572T>C (p.Leu858=) single nucleotide variant Cohen syndrome [RCV003606122] Chr8:99274254 [GRCh38]
Chr8:100286482 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.580+2T>C single nucleotide variant Cohen syndrome [RCV003606827] Chr8:99103122 [GRCh38]
Chr8:100115350 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8643T>C (p.Asp2881=) single nucleotide variant Cohen syndrome [RCV003606828] Chr8:99819433 [GRCh38]
Chr8:100831661 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2651-4T>C single nucleotide variant Cohen syndrome [RCV003605186] Chr8:99275077 [GRCh38]
Chr8:100287305 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer) deletion Cohen syndrome [RCV003605214] Chr8:99817636 [GRCh38]
Chr8:100829864 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8784T>C (p.Asp2928=) single nucleotide variant Cohen syndrome [RCV003605229] Chr8:99819574 [GRCh38]
Chr8:100831802 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs) deletion Cohen syndrome [RCV003606201] Chr8:99147993..99148003 [GRCh38]
Chr8:100160221..100160231 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8136G>A (p.Leu2712=) single nucleotide variant Cohen syndrome [RCV003606843] Chr8:99817578 [GRCh38]
Chr8:100829806 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.412+18C>A single nucleotide variant Cohen syndrome [RCV003606847] Chr8:99096450 [GRCh38]
Chr8:100108678 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-10T>G single nucleotide variant Cohen syndrome [RCV003606859] Chr8:99859294 [GRCh38]
Chr8:100871522 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+17C>T single nucleotide variant Cohen syndrome [RCV003606863] Chr8:99835341 [GRCh38]
Chr8:100847569 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.507T>C (p.Leu169=) single nucleotide variant Cohen syndrome [RCV003605232] Chr8:99103047 [GRCh38]
Chr8:100115275 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11889C>T (p.Ser3963=) single nucleotide variant Cohen syndrome [RCV003605233] Chr8:99875561 [GRCh38]
Chr8:100887789 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6861T>C (p.Asp2287=) single nucleotide variant Cohen syndrome [RCV003605243] Chr8:99720548 [GRCh38]
Chr8:100732776 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8646T>C (p.Cys2882=) single nucleotide variant Cohen syndrome [RCV003605255] Chr8:99819436 [GRCh38]
Chr8:100831664 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6454+16G>C single nucleotide variant Cohen syndrome [RCV003605257] Chr8:99699948 [GRCh38]
Chr8:100712176 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+18G>T single nucleotide variant Cohen syndrome [RCV003605261] Chr8:99274350 [GRCh38]
Chr8:100286578 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3972A>G (p.Leu1324=) single nucleotide variant Cohen syndrome [RCV003605270] Chr8:99501788 [GRCh38]
Chr8:100514016 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5712T>C (p.Ala1904=) single nucleotide variant Cohen syndrome [RCV003606214] Chr8:99642302 [GRCh38]
Chr8:100654530 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter) single nucleotide variant Cohen syndrome [RCV003606218] Chr8:99481614 [GRCh38]
Chr8:100493842 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7429+17C>G single nucleotide variant Cohen syndrome [RCV003606228] Chr8:99776973 [GRCh38]
Chr8:100789201 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2217T>C (p.Gly739=) single nucleotide variant Cohen syndrome [RCV003606908] Chr8:99170047 [GRCh38]
Chr8:100182275 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8792+14G>C single nucleotide variant Cohen syndrome [RCV003606913] Chr8:99819596 [GRCh38]
Chr8:100831824 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-14_9331-3del deletion Cohen syndrome [RCV003606925]|VPS13B-related disorder [RCV003893346] Chr8:99832342..99832353 [GRCh38]
Chr8:100844570..100844581 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496-7dup duplication Cohen syndrome [RCV003606932] Chr8:99871437..99871438 [GRCh38]
Chr8:100883665..100883666 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.8920C>A (p.Leu2974Ile) single nucleotide variant Cohen syndrome [RCV003605288] Chr8:99820048 [GRCh38]
Chr8:100832276 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1206+11T>G single nucleotide variant Cohen syndrome [RCV003606941] Chr8:99121456 [GRCh38]
Chr8:100133684 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11392+20A>G single nucleotide variant Cohen syndrome [RCV003606947] Chr8:99868485 [GRCh38]
Chr8:100880713 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter) duplication Cohen syndrome [RCV003606949] Chr8:99467521..99467522 [GRCh38]
Chr8:100479749..100479750 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4157+19A>T single nucleotide variant Cohen syndrome [RCV003606961] Chr8:99502969 [GRCh38]
Chr8:100515197 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1492T>C (p.Leu498=) single nucleotide variant Cohen syndrome [RCV003605344]|VPS13B-related disorder [RCV003901271] Chr8:99135662 [GRCh38]
Chr8:100147890 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7749A>G (p.Ser2583=) single nucleotide variant Cohen syndrome [RCV003605349] Chr8:99779001 [GRCh38]
Chr8:100791229 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter) single nucleotide variant Cohen syndrome [RCV003605353] Chr8:99274203 [GRCh38]
Chr8:100286431 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4528A>C (p.Arg1510=) single nucleotide variant Cohen syndrome [RCV003605357] Chr8:99511407 [GRCh38]
Chr8:100523635 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.240A>G (p.Val80=) single nucleotide variant Cohen syndrome [RCV003605359] Chr8:99038515 [GRCh38]
Chr8:100050743 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-20T>G single nucleotide variant Cohen syndrome [RCV003606241] Chr8:99641791 [GRCh38]
Chr8:100654019 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10874T>C (p.Val3625Ala) single nucleotide variant Cohen syndrome [RCV003606259] Chr8:99859310 [GRCh38]
Chr8:100871538 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7750C>T (p.Leu2584=) single nucleotide variant Cohen syndrome [RCV003606261] Chr8:99779002 [GRCh38]
Chr8:100791230 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+1G>C single nucleotide variant Cohen syndrome [RCV003606989]|VPS13B-related disorder [RCV004723459] Chr8:99575785 [GRCh38]
Chr8:100588013 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.147+19A>C single nucleotide variant Cohen syndrome [RCV003607002] Chr8:99013954 [GRCh38]
Chr8:100026182 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844-14C>T single nucleotide variant Cohen syndrome [RCV003607012] Chr8:99147827 [GRCh38]
Chr8:100160055 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11044+1G>A single nucleotide variant Cohen syndrome [RCV003881663] Chr8:99859481 [GRCh38]
Chr8:100871709 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5763T>A (p.Thr1921=) single nucleotide variant Cohen syndrome [RCV003605407] Chr8:99642353 [GRCh38]
Chr8:100654581 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6455-5_6455-4dup duplication Cohen syndrome [RCV003605290] Chr8:99717158..99717159 [GRCh38]
Chr8:100729386..100729387 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.6455-9T>A single nucleotide variant Cohen syndrome [RCV003606281] Chr8:99717162 [GRCh38]
Chr8:100729390 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.938-17T>C single nucleotide variant Cohen syndrome [RCV003606284] Chr8:99121160 [GRCh38]
Chr8:100133388 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.580+19T>C single nucleotide variant Cohen syndrome [RCV003828442] Chr8:99103139 [GRCh38]
Chr8:100115367 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11436C>A (p.Arg3812=) single nucleotide variant Cohen syndrome [RCV003605429] Chr8:99870828 [GRCh38]
Chr8:100883056 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3211-12T>C single nucleotide variant Cohen syndrome [RCV003605435] Chr8:99442389 [GRCh38]
Chr8:100454617 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+9del deletion Cohen syndrome [RCV003605476] Chr8:99135741 [GRCh38]
Chr8:100147969 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1875T>C (p.Asn625=) single nucleotide variant Cohen syndrome [RCV003606286] Chr8:99147872 [GRCh38]
Chr8:100160100 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs) deletion Cohen syndrome [RCV003606313] Chr8:99699551 [GRCh38]
Chr8:100711779 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10061+20C>G single nucleotide variant Cohen syndrome [RCV003606325] Chr8:99848914 [GRCh38]
Chr8:100861142 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3858G>A (p.Gly1286=) single nucleotide variant Cohen syndrome [RCV003606326] Chr8:99481790 [GRCh38]
Chr8:100494018 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7890G>A (p.Leu2630=) single nucleotide variant Cohen syndrome [RCV003606334]|VPS13B-related disorder [RCV004741662] Chr8:99784425 [GRCh38]
Chr8:100796653 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1431C>G (p.Ala477=) single nucleotide variant Cohen syndrome [RCV003827065] Chr8:99135601 [GRCh38]
Chr8:100147829 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7941+18T>C single nucleotide variant Cohen syndrome [RCV003606072] Chr8:99784494 [GRCh38]
Chr8:100796722 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-14C>T single nucleotide variant Cohen syndrome [RCV003606078] Chr8:99821280 [GRCh38]
Chr8:100833508 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3009C>A (p.Ala1003=) single nucleotide variant Cohen syndrome [RCV003606093] Chr8:99391631 [GRCh38]
Chr8:100403859 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1092A>G (p.Glu364=) single nucleotide variant Cohen syndrome [RCV003606118] Chr8:99121331 [GRCh38]
Chr8:100133559 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11200G>C (p.Gly3734Arg) single nucleotide variant Cohen syndrome [RCV003606135] Chr8:99861931 [GRCh38]
Chr8:100874159 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10867+11A>C single nucleotide variant Cohen syndrome [RCV003606142] Chr8:99854267 [GRCh38]
Chr8:100866495 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4157+15_4157+21del microsatellite Cohen syndrome [RCV003606756] Chr8:99502954..99502960 [GRCh38]
Chr8:100515182..100515188 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11331C>T (p.Ile3777=) single nucleotide variant Cohen syndrome [RCV003828764] Chr8:99868404 [GRCh38]
Chr8:100880632 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8994+10del deletion Cohen syndrome [RCV003606160] Chr8:99820132 [GRCh38]
Chr8:100832360 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter) single nucleotide variant Cohen syndrome [RCV003606161] Chr8:99821388 [GRCh38]
Chr8:100833616 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1207-19A>G single nucleotide variant Cohen syndrome [RCV003878707] Chr8:99134613 [GRCh38]
Chr8:100146841 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+720C>T single nucleotide variant Cohen syndrome [RCV003606787] Chr8:99507923 [GRCh38]
Chr8:100520151 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7308G>T (p.Leu2436=) single nucleotide variant Cohen syndrome [RCV003606245] Chr8:99776835 [GRCh38]
Chr8:100789063 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5589C>T (p.Asn1863=) single nucleotide variant Cohen syndrome [RCV003606248] Chr8:99642179 [GRCh38]
Chr8:100654407 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+18A>C single nucleotide variant Cohen syndrome [RCV003606790] Chr8:99275272 [GRCh38]
Chr8:100287500 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220+17T>C single nucleotide variant Cohen syndrome [RCV003606799] Chr8:99577650 [GRCh38]
Chr8:100589878 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7780-16A>G single nucleotide variant Cohen syndrome [RCV003606813] Chr8:99784299 [GRCh38]
Chr8:100796527 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6455-16del deletion Cohen syndrome [RCV003828850] Chr8:99717155 [GRCh38]
Chr8:100729383 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs) deletion Cohen syndrome [RCV003606829] Chr8:99823926 [GRCh38]
Chr8:100836154 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6813A>G (p.Glu2271=) single nucleotide variant Cohen syndrome [RCV003825610] Chr8:99720500 [GRCh38]
Chr8:100732728 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8352T>C (p.Ile2784=) single nucleotide variant Cohen syndrome [RCV003606879] Chr8:99817794 [GRCh38]
Chr8:100830022 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8097+12del deletion Cohen syndrome [RCV003606881] Chr8:99809540 [GRCh38]
Chr8:100821768 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7554T>C (p.Cys2518=) single nucleotide variant Cohen syndrome [RCV003606901] Chr8:99778806 [GRCh38]
Chr8:100791034 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3800G>A (p.Ser1267Asn) single nucleotide variant Cohen syndrome [RCV003606903] Chr8:99481732 [GRCh38]
Chr8:100493960 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11745+13A>G single nucleotide variant Cohen syndrome [RCV003606906] Chr8:99871710 [GRCh38]
Chr8:100883938 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11175G>A (p.Gly3725=) single nucleotide variant Cohen syndrome [RCV003606918] Chr8:99861906 [GRCh38]
Chr8:100874134 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4745+18T>C single nucleotide variant Cohen syndrome [RCV003606926] Chr8:99521028 [GRCh38]
Chr8:100533256 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11044+19T>C single nucleotide variant Cohen syndrome [RCV003606930] Chr8:99859499 [GRCh38]
Chr8:100871727 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9743-16T>G single nucleotide variant Cohen syndrome [RCV003606324] Chr8:99835523 [GRCh38]
Chr8:100847751 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9615-14T>G single nucleotide variant Cohen syndrome [RCV003606345] Chr8:99835183 [GRCh38]
Chr8:100847411 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4767T>C (p.Ile1589=) single nucleotide variant Cohen syndrome [RCV003606357] Chr8:99556471 [GRCh38]
Chr8:100568699 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-10T>C single nucleotide variant Cohen syndrome [RCV003606955] Chr8:99832359 [GRCh38]
Chr8:100844587 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844-18T>C single nucleotide variant Cohen syndrome [RCV003606962] Chr8:99147823 [GRCh38]
Chr8:100160051 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3445+14T>A single nucleotide variant Cohen syndrome [RCV003606963] Chr8:99442649 [GRCh38]
Chr8:100454877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11607G>A (p.Val3869=) single nucleotide variant Cohen syndrome [RCV003606974] Chr8:99871559 [GRCh38]
Chr8:100883787 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11862T>A (p.Pro3954=) single nucleotide variant Cohen syndrome [RCV003606975] Chr8:99875534 [GRCh38]
Chr8:100887762 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8792+17A>G single nucleotide variant Cohen syndrome [RCV003605114] Chr8:99819599 [GRCh38]
Chr8:100831827 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6837A>T (p.Thr2279=) single nucleotide variant Cohen syndrome [RCV003605123] Chr8:99720524 [GRCh38]
Chr8:100732752 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1426-12A>T single nucleotide variant Cohen syndrome [RCV003605172] Chr8:99135584 [GRCh38]
Chr8:100147812 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.276del (p.Lys93fs) deletion Cohen syndrome [RCV003876779] Chr8:99038550 [GRCh38]
Chr8:100050778 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6891T>C (p.Tyr2297=) single nucleotide variant Cohen syndrome [RCV003606367] Chr8:99720888 [GRCh38]
Chr8:100733116 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9703A>C (p.Arg3235=) single nucleotide variant Cohen syndrome [RCV003606416] Chr8:99835285 [GRCh38]
Chr8:100847513 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2651-17T>A single nucleotide variant Cohen syndrome [RCV003606983] Chr8:99275064 [GRCh38]
Chr8:100287292 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2508A>G (p.Leu836=) single nucleotide variant Cohen syndrome [RCV003606995] Chr8:99193050 [GRCh38]
Chr8:100205278 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.423G>A (p.Gln141=) single nucleotide variant Cohen syndrome [RCV003606998] Chr8:99102963 [GRCh38]
Chr8:100115191 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7263T>C (p.Ser2421=) single nucleotide variant Cohen syndrome [RCV003605199] Chr8:99776790 [GRCh38]
Chr8:100789018 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7344A>G (p.Pro2448=) single nucleotide variant Cohen syndrome [RCV003882245] Chr8:99776871 [GRCh38]
Chr8:100789099 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11216-14T>A single nucleotide variant Cohen syndrome [RCV003605224] Chr8:99868275 [GRCh38]
Chr8:100880503 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2361T>A (p.Thr787=) single nucleotide variant Cohen syndrome [RCV003605226] Chr8:99192903 [GRCh38]
Chr8:100205131 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4665T>G (p.Val1555=) single nucleotide variant Cohen syndrome [RCV003605273] Chr8:99520930 [GRCh38]
Chr8:100533158 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6225T>C (p.Tyr2075=) single nucleotide variant Cohen syndrome [RCV003605334]|VPS13B-related disorder [RCV004723426] Chr8:99699703 [GRCh38]
Chr8:100711931 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11985G>T (p.Gly3995=) single nucleotide variant Cohen syndrome [RCV003605343] Chr8:99875657 [GRCh38]
Chr8:100887885 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.186T>C (p.Ile62=) single nucleotide variant Cohen syndrome [RCV003605387] Chr8:99038461 [GRCh38]
Chr8:100050689 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496-19C>T single nucleotide variant Cohen syndrome [RCV003606536] Chr8:99871429 [GRCh38]
Chr8:100883657 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9312T>C (p.Asn3104=) single nucleotide variant Cohen syndrome [RCV003606558] Chr8:99823960 [GRCh38]
Chr8:100836188 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter) single nucleotide variant Cohen syndrome [RCV003605417] Chr8:99442580 [GRCh38]
Chr8:100454808 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3871-11C>A single nucleotide variant Cohen syndrome [RCV003605436] Chr8:99501676 [GRCh38]
Chr8:100513904 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs) deletion Cohen syndrome [RCV003605477] Chr8:99511146..99511152 [GRCh38]
Chr8:100523374..100523380 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.726T>C (p.Tyr242=) single nucleotide variant Cohen syndrome [RCV003606568] Chr8:99111243 [GRCh38]
Chr8:100123471 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+11A>G single nucleotide variant Cohen syndrome [RCV003606571] Chr8:99193068 [GRCh38]
Chr8:100205296 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11115G>A (p.Glu3705=) single nucleotide variant Cohen syndrome [RCV003606573] Chr8:99861846 [GRCh38]
Chr8:100874074 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter) single nucleotide variant Cohen syndrome [RCV003606578] Chr8:99778984 [GRCh38]
Chr8:100791212 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.5160C>G (p.Leu1720=) single nucleotide variant Cohen syndrome [RCV003606588] Chr8:99577573 [GRCh38]
Chr8:100589801 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10139A>G (p.His3380Arg) single nucleotide variant Cohen syndrome [RCV003605538] Chr8:99853528 [GRCh38]
Chr8:100865756 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5076+22del deletion Cohen syndrome [RCV003605582] Chr8:99575803 [GRCh38]
Chr8:100588031 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.4023T>C (p.Asp1341=) single nucleotide variant Cohen syndrome [RCV003605593] Chr8:99501839 [GRCh38]
Chr8:100514067 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6990A>G (p.Val2330=) single nucleotide variant Cohen syndrome [RCV003606605] Chr8:99720987 [GRCh38]
Chr8:100733215 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220+12del deletion Cohen syndrome [RCV003606624] Chr8:99577644 [GRCh38]
Chr8:100589872 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5604C>T (p.Ser1868=) single nucleotide variant Cohen syndrome [RCV003605908] Chr8:99642194 [GRCh38]
Chr8:100654422 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=) single nucleotide variant Cohen syndrome [RCV003605921]|VPS13B-related disorder [RCV004741652] Chr8:99170122 [GRCh38]
Chr8:100182350 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11385T>C (p.Thr3795=) single nucleotide variant Cohen syndrome [RCV003605922] Chr8:99868458 [GRCh38]
Chr8:100880686 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8316T>C (p.Asp2772=) single nucleotide variant Cohen syndrome [RCV003828809] Chr8:99817758 [GRCh38]
Chr8:100829986 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4956G>T (p.Arg1652=) single nucleotide variant Cohen syndrome [RCV003606720] Chr8:99575664 [GRCh38]
Chr8:100587892 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+13C>G single nucleotide variant Cohen syndrome [RCV003606734] Chr8:99275267 [GRCh38]
Chr8:100287495 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2975G>A (p.Arg992Lys) single nucleotide variant Cohen syndrome [RCV003606736]|VPS13B-related disorder [RCV004741684] Chr8:99391597 [GRCh38]
Chr8:100403825 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.937+10A>T single nucleotide variant Cohen syndrome [RCV003606747] Chr8:99115884 [GRCh38]
Chr8:100128112 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8097+18C>G single nucleotide variant Cohen syndrome [RCV003606753] Chr8:99809548 [GRCh38]
Chr8:100821776 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2208+19_2208+21del deletion Cohen syndrome [RCV003605218] Chr8:99156760..99156762 [GRCh38]
Chr8:100168988..100168990 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9743-17C>T single nucleotide variant Cohen syndrome [RCV003605434] Chr8:99835522 [GRCh38]
Chr8:100847750 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11631G>A (p.Glu3877=) single nucleotide variant Cohen syndrome [RCV003605439] Chr8:99871583 [GRCh38]
Chr8:100883811 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8694A>T (p.Val2898=) single nucleotide variant Cohen syndrome [RCV003605444] Chr8:99819484 [GRCh38]
Chr8:100831712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1932T>G (p.Thr644=) single nucleotide variant Cohen syndrome [RCV003606154] Chr8:99147929 [GRCh38]
Chr8:100160157 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3384C>T (p.His1128=) single nucleotide variant Cohen syndrome [RCV003606159] Chr8:99442574 [GRCh38]
Chr8:100454802 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.581-1G>A single nucleotide variant Cohen syndrome [RCV003606163] Chr8:99111097 [GRCh38]
Chr8:100123325 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3426A>C (p.Pro1142=) single nucleotide variant Cohen syndrome [RCV003606173] Chr8:99442616 [GRCh38]
Chr8:100454844 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter) single nucleotide variant Cohen syndrome [RCV003605475] Chr8:99809415 [GRCh38]
Chr8:100821643 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2209-17T>C single nucleotide variant Cohen syndrome [RCV003605480] Chr8:99170022 [GRCh38]
Chr8:100182250 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9498C>T (p.Ala3166=) single nucleotide variant Cohen syndrome [RCV003605488] Chr8:99832536 [GRCh38]
Chr8:100844764 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1885G>C (p.Val629Leu) single nucleotide variant Cohen syndrome [RCV003605489] Chr8:99147882 [GRCh38]
Chr8:100160110 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8595T>G (p.Leu2865=) single nucleotide variant Cohen syndrome [RCV003605494] Chr8:99818862 [GRCh38]
Chr8:100831090 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2172C>T (p.Asn724=) single nucleotide variant Cohen syndrome [RCV003605499] Chr8:99156707 [GRCh38]
Chr8:100168935 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5085A>G (p.Leu1695=) single nucleotide variant Cohen syndrome [RCV003606347] Chr8:99577498 [GRCh38]
Chr8:100589726 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2934+14A>C single nucleotide variant Cohen syndrome [RCV003606352] Chr8:99384331 [GRCh38]
Chr8:100396559 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6810T>C (p.Ser2270=) single nucleotide variant Cohen syndrome [RCV003606361] Chr8:99720497 [GRCh38]
Chr8:100732725 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+12A>T single nucleotide variant Cohen syndrome [RCV003606364] Chr8:99661503 [GRCh38]
Chr8:100673731 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4038C>T (p.Gly1346=) single nucleotide variant Cohen syndrome [RCV003606021] Chr8:99501854 [GRCh38]
Chr8:100514082 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2334-19T>G single nucleotide variant Cohen syndrome [RCV003606015] Chr8:99192857 [GRCh38]
Chr8:100205085 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8733C>T (p.Phe2911=) single nucleotide variant Cohen syndrome [RCV003606014] Chr8:99819523 [GRCh38]
Chr8:100831751 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.937+16A>G single nucleotide variant Cohen syndrome [RCV003880226] Chr8:99115890 [GRCh38]
Chr8:100128118 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11829C>T (p.Ala3943=) single nucleotide variant Cohen syndrome [RCV003605508] Chr8:99875501 [GRCh38]
Chr8:100887729 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+19G>A single nucleotide variant Cohen syndrome [RCV003605516] Chr8:99871716 [GRCh38]
Chr8:100883944 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-9C>T single nucleotide variant Cohen syndrome [RCV003605519] Chr8:99699516 [GRCh38]
Chr8:100711744 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs) duplication Cohen syndrome [RCV003605522] Chr8:99135652..99135653 [GRCh38]
Chr8:100147880..100147881 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4677C>T (p.Gly1559=) single nucleotide variant Cohen syndrome [RCV003605535] Chr8:99520942 [GRCh38]
Chr8:100533170 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+13C>T single nucleotide variant Cohen syndrome [RCV003605539] Chr8:99818547 [GRCh38]
Chr8:100830775 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.938-19A>G single nucleotide variant Cohen syndrome [RCV003605542] Chr8:99121158 [GRCh38]
Chr8:100133386 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs) deletion Cohen syndrome [RCV003605543] Chr8:99875485..99875492 [GRCh38]
Chr8:100887713..100887720 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7942-16T>C single nucleotide variant Cohen syndrome [RCV003606333] Chr8:99809359 [GRCh38]
Chr8:100821587 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10008C>T (p.Phe3336=) single nucleotide variant Cohen syndrome [RCV003606388] Chr8:99848841 [GRCh38]
Chr8:100861069 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2703T>C (p.Thr901=) single nucleotide variant Cohen syndrome [RCV003606396] Chr8:99275133 [GRCh38]
Chr8:100287361 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+8C>G single nucleotide variant Cohen syndrome [RCV003606405] Chr8:99275262 [GRCh38]
Chr8:100287490 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.580+15A>G single nucleotide variant Cohen syndrome [RCV003606407] Chr8:99103135 [GRCh38]
Chr8:100115363 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=) single nucleotide variant Cohen syndrome [RCV003879388]|VPS13B-related disorder [RCV004723531] Chr8:99835287 [GRCh38]
Chr8:100847515 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.580+20A>G single nucleotide variant Cohen syndrome [RCV003605565] Chr8:99103140 [GRCh38]
Chr8:100115368 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8022T>C (p.Ile2674=) single nucleotide variant Cohen syndrome [RCV003605566] Chr8:99809455 [GRCh38]
Chr8:100821683 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3009C>T (p.Ala1003=) single nucleotide variant Cohen syndrome [RCV003605567] Chr8:99391631 [GRCh38]
Chr8:100403859 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3663C>A (p.Pro1221=) single nucleotide variant Cohen syndrome [RCV003606389] Chr8:99467631 [GRCh38]
Chr8:100479859 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10539A>T (p.Val3513=) single nucleotide variant Cohen syndrome [RCV003606400] Chr8:99853928 [GRCh38]
Chr8:100866156 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6702T>C (p.His2234=) single nucleotide variant Cohen syndrome [RCV003606463] Chr8:99720389 [GRCh38]
Chr8:100732617 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10138C>A (p.His3380Asn) single nucleotide variant Cohen syndrome [RCV003605583] Chr8:99853527 [GRCh38]
Chr8:100865755 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2935-14T>G single nucleotide variant Cohen syndrome [RCV003605584] Chr8:99391543 [GRCh38]
Chr8:100403771 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10266C>T (p.Ile3422=) single nucleotide variant Cohen syndrome [RCV003605591] Chr8:99853655 [GRCh38]
Chr8:100865883 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-8del deletion Cohen syndrome [RCV003606486] Chr8:99577478 [GRCh38]
Chr8:100589706 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.3446-12C>G single nucleotide variant Cohen syndrome [RCV003606489] Chr8:99467402 [GRCh38]
Chr8:100479630 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6966C>T (p.Leu2322=) single nucleotide variant Cohen syndrome [RCV003606496] Chr8:99720963 [GRCh38]
Chr8:100733191 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8793-2A>G single nucleotide variant Cohen syndrome [RCV003876783] Chr8:99819919 [GRCh38]
Chr8:100832147 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3423C>A (p.Ile1141=) single nucleotide variant Cohen syndrome [RCV003606511] Chr8:99442613 [GRCh38]
Chr8:100454841 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+16A>G single nucleotide variant Cohen syndrome [RCV003881125] Chr8:99818550 [GRCh38]
Chr8:100830778 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8394C>A (p.Val2798=) single nucleotide variant Cohen syndrome [RCV003605106] Chr8:99818483 [GRCh38]
Chr8:100830711 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9943-17G>T single nucleotide variant Cohen syndrome [RCV003605110] Chr8:99848759 [GRCh38]
Chr8:100860987 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6552T>C (p.Cys2184=) single nucleotide variant Cohen syndrome [RCV003605113] Chr8:99717268 [GRCh38]
Chr8:100729496 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3342T>A (p.Leu1114=) single nucleotide variant Cohen syndrome [RCV003605118] Chr8:99442532 [GRCh38]
Chr8:100454760 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter) single nucleotide variant Cohen syndrome [RCV003605122] Chr8:99661404 [GRCh38]
Chr8:100673632 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.4512T>C (p.Ser1504=) single nucleotide variant Cohen syndrome [RCV003606411] Chr8:99511391 [GRCh38]
Chr8:100523619 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3789T>C (p.Ser1263=) single nucleotide variant Cohen syndrome [RCV003606414] Chr8:99481721 [GRCh38]
Chr8:100493949 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10629G>A (p.Leu3543=) single nucleotide variant Cohen syndrome [RCV003606417] Chr8:99854018 [GRCh38]
Chr8:100866246 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4317G>A (p.Lys1439=) single nucleotide variant Cohen syndrome [RCV003606449] Chr8:99511196 [GRCh38]
Chr8:100523424 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8574G>A (p.Leu2858=) single nucleotide variant Cohen syndrome [RCV003605136] Chr8:99818841 [GRCh38]
Chr8:100831069 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=) single nucleotide variant Cohen syndrome [RCV003605149]|VPS13B-related disorder [RCV003901264] Chr8:99192909 [GRCh38]
Chr8:100205137 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7430-17G>C single nucleotide variant Cohen syndrome [RCV003605150] Chr8:99778665 [GRCh38]
Chr8:100790893 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs) deletion Cohen syndrome [RCV003606197] Chr8:99642178..99642179 [GRCh38]
Chr8:100654406..100654407 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5289C>T (p.Tyr1763=) single nucleotide variant Cohen syndrome [RCV003606204] Chr8:99641879 [GRCh38]
Chr8:100654107 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4872A>G (p.Glu1624=) single nucleotide variant Cohen syndrome [RCV003606235] Chr8:99556576 [GRCh38]
Chr8:100568804 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3082+9C>A single nucleotide variant Cohen syndrome [RCV003876978]|VPS13B-related disorder [RCV004723529] Chr8:99391713 [GRCh38]
Chr8:100403941 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2295T>A (p.Thr765=) single nucleotide variant Cohen syndrome [RCV003605182] Chr8:99170125 [GRCh38]
Chr8:100182353 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs) deletion Cohen syndrome [RCV003605188] Chr8:99501814 [GRCh38]
Chr8:100514042 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10845C>A (p.Ala3615=) single nucleotide variant Cohen syndrome [RCV003605189] Chr8:99854234 [GRCh38]
Chr8:100866462 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8361+15T>C single nucleotide variant Cohen syndrome [RCV003605203] Chr8:99817818 [GRCh38]
Chr8:100830046 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs) microsatellite Cohen syndrome [RCV003605205] Chr8:99832601..99832602 [GRCh38]
Chr8:100844829..100844830 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10263G>A (p.Glu3421=) single nucleotide variant Cohen syndrome [RCV003605210] Chr8:99853652 [GRCh38]
Chr8:100865880 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3060T>C (p.Pro1020=) single nucleotide variant Cohen syndrome [RCV003606203] Chr8:99391682 [GRCh38]
Chr8:100403910 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9184-1G>A single nucleotide variant Cohen syndrome [RCV003606230] Chr8:99823831 [GRCh38]
Chr8:100836059 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1651+14T>C single nucleotide variant Cohen syndrome [RCV003881865] Chr8:99136766 [GRCh38]
Chr8:100148994 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6411C>T (p.Asn2137=) single nucleotide variant Cohen syndrome [RCV003605222] Chr8:99699889 [GRCh38]
Chr8:100712117 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs) deletion Cohen syndrome [RCV003605223] Chr8:99817726 [GRCh38]
Chr8:100829954 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9327G>A (p.Lys3109=) single nucleotide variant Cohen syndrome [RCV003605238] Chr8:99823975 [GRCh38]
Chr8:100836203 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.36C>T (p.Ser12=) single nucleotide variant Cohen syndrome [RCV003605244] Chr8:99013824 [GRCh38]
Chr8:100026052 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6454+19G>A single nucleotide variant Cohen syndrome [RCV003605245] Chr8:99699951 [GRCh38]
Chr8:100712179 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9627G>A (p.Leu3209=) single nucleotide variant Cohen syndrome [RCV003605906] Chr8:99835209 [GRCh38]
Chr8:100847437 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2825-11T>C single nucleotide variant Cohen syndrome [RCV003605916] Chr8:99384197 [GRCh38]
Chr8:100396425 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.204T>C (p.His68=) single nucleotide variant Cohen syndrome [RCV003605925] Chr8:99038479 [GRCh38]
Chr8:100050707 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5499A>G (p.Lys1833=) single nucleotide variant Cohen syndrome [RCV003605926] Chr8:99642089 [GRCh38]
Chr8:100654317 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2625A>G (p.Ser875=) single nucleotide variant Cohen syndrome [RCV003605929] Chr8:99274307 [GRCh38]
Chr8:100286535 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1303-20T>C single nucleotide variant Cohen syndrome [RCV003605932] Chr8:99134995 [GRCh38]
Chr8:100147223 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+13T>C single nucleotide variant Cohen syndrome [RCV003606216] Chr8:99575797 [GRCh38]
Chr8:100588025 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2314C>T (p.Leu772=) single nucleotide variant Cohen syndrome [RCV003606226] Chr8:99170144 [GRCh38]
Chr8:100182372 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.292-12A>T single nucleotide variant Cohen syndrome [RCV003605254] Chr8:99096300 [GRCh38]
Chr8:100108528 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6866-7T>C single nucleotide variant Cohen syndrome [RCV003605272] Chr8:99720856 [GRCh38]
Chr8:100733084 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2718C>T (p.Ser906=) single nucleotide variant Cohen syndrome [RCV003605287] Chr8:99275148 [GRCh38]
Chr8:100287376 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9330+16C>A single nucleotide variant Cohen syndrome [RCV003605950] Chr8:99823994 [GRCh38]
Chr8:100836222 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter) single nucleotide variant Cohen syndrome [RCV003605951] Chr8:99817575 [GRCh38]
Chr8:100829803 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8994+14T>C single nucleotide variant Cohen syndrome [RCV003605958] Chr8:99820136 [GRCh38]
Chr8:100832364 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5894A>C (p.Asp1965Ala) single nucleotide variant Cohen syndrome [RCV003605963] Chr8:99642484 [GRCh38]
Chr8:100654712 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1890T>C (p.Ala630=) single nucleotide variant Cohen syndrome [RCV003605970] Chr8:99147887 [GRCh38]
Chr8:100160115 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1653T>C (p.Gly551=) single nucleotide variant Cohen syndrome [RCV003605974] Chr8:99142975 [GRCh38]
Chr8:100155203 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter) single nucleotide variant Cohen syndrome [RCV003606246] Chr8:99870823 [GRCh38]
Chr8:100883051 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3375T>G (p.Ser1125Arg) single nucleotide variant Cohen syndrome [RCV003606260] Chr8:99442565 [GRCh38]
Chr8:100454793 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.147+18C>A single nucleotide variant Cohen syndrome [RCV003606262] Chr8:99013953 [GRCh38]
Chr8:100026181 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5210A>G (p.Lys1737Arg) single nucleotide variant Cohen syndrome [RCV003605297] Chr8:99577623 [GRCh38]
Chr8:100589851 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9943-1G>A single nucleotide variant Cohen syndrome [RCV003605307] Chr8:99848775 [GRCh38]
Chr8:100861003 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.207A>G (p.Val69=) single nucleotide variant Cohen syndrome [RCV003605312] Chr8:99038482 [GRCh38]
Chr8:100050710 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-8_10868-7del deletion Cohen syndrome [RCV003605323] Chr8:99859295..99859296 [GRCh38]
Chr8:100871523..100871524 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9792A>G (p.Ser3264=) single nucleotide variant Cohen syndrome [RCV003605325] Chr8:99835588 [GRCh38]
Chr8:100847816 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9036T>C (p.Thr3012=) single nucleotide variant Cohen syndrome [RCV003606039] Chr8:99821335 [GRCh38]
Chr8:100833563 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1843+17A>G single nucleotide variant Cohen syndrome [RCV003606043] Chr8:99143182 [GRCh38]
Chr8:100155410 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8792+11T>C single nucleotide variant Cohen syndrome [RCV003605340] Chr8:99819593 [GRCh38]
Chr8:100831821 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG indel Cohen syndrome [RCV003605365] Chr8:99577428..99577497 [GRCh38]
Chr8:100589656..100589725 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9615-17A>T single nucleotide variant Cohen syndrome [RCV003606052] Chr8:99835180 [GRCh38]
Chr8:100847408 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs) microsatellite Cohen syndrome [RCV003606058] Chr8:99275178..99275179 [GRCh38]
Chr8:100287406..100287407 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7374C>T (p.Phe2458=) single nucleotide variant Cohen syndrome [RCV003606061] Chr8:99776901 [GRCh38]
Chr8:100789129 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter) single nucleotide variant Cohen syndrome [RCV003606036] Chr8:99038429 [GRCh38]
Chr8:100050657 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4633+7T>A single nucleotide variant Cohen syndrome [RCV003606083] Chr8:99511519 [GRCh38]
Chr8:100523747 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-6_10062-4del microsatellite Cohen syndrome [RCV003606280] Chr8:99853442..99853444 [GRCh38]
Chr8:100865670..100865672 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-11C>A single nucleotide variant Cohen syndrome [RCV003606287] Chr8:99467403 [GRCh38]
Chr8:100479631 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11223T>C (p.Ile3741=) single nucleotide variant Cohen syndrome [RCV003606026] Chr8:99868296 [GRCh38]
Chr8:100880524 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2193A>G (p.Val731=) single nucleotide variant Cohen syndrome [RCV003606307] Chr8:99156728 [GRCh38]
Chr8:100168956 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4296A>G (p.Val1432=) single nucleotide variant Cohen syndrome [RCV003606314] Chr8:99511175 [GRCh38]
Chr8:100523403 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5908+8C>A single nucleotide variant Cohen syndrome [RCV003605390] Chr8:99642506 [GRCh38]
Chr8:100654734 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter) single nucleotide variant Cohen syndrome [RCV003605395] Chr8:99556607 [GRCh38]
Chr8:100568835 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7779+1G>C single nucleotide variant Cohen syndrome [RCV003605396] Chr8:99779032 [GRCh38]
Chr8:100791260 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9822C>T (p.Ser3274=) single nucleotide variant Cohen syndrome [RCV003606099] Chr8:99835618 [GRCh38]
Chr8:100847846 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.937+15T>A single nucleotide variant Cohen syndrome [RCV003606109] Chr8:99115889 [GRCh38]
Chr8:100128117 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11823C>T (p.His3941=) single nucleotide variant Cohen syndrome [RCV003606116] Chr8:99875495 [GRCh38]
Chr8:100887723 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3726G>A (p.Lys1242=) single nucleotide variant Cohen syndrome [RCV003606120] Chr8:99481658 [GRCh38]
Chr8:100493886 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1843+13A>G single nucleotide variant Cohen syndrome [RCV003606342] Chr8:99143178 [GRCh38]
Chr8:100155406 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9615-12A>G single nucleotide variant Cohen syndrome [RCV003605410] Chr8:99835185 [GRCh38]
Chr8:100847413 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9370C>T (p.Pro3124Ser) single nucleotide variant Cohen syndrome [RCV003882315] Chr8:99832408 [GRCh38]
Chr8:100844636 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.581-14T>A single nucleotide variant Cohen syndrome [RCV003605155] Chr8:99111084 [GRCh38]
Chr8:100123312 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10233G>C (p.Val3411=) single nucleotide variant Cohen syndrome [RCV003606129] Chr8:99853622 [GRCh38]
Chr8:100865850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5742G>A (p.Arg1914=) single nucleotide variant Cohen syndrome [RCV003606138] Chr8:99642332 [GRCh38]
Chr8:100654560 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.581-13T>C single nucleotide variant Cohen syndrome [RCV003880886] Chr8:99111085 [GRCh38]
Chr8:100123313 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.762+20_762+21delinsAA indel Cohen syndrome [RCV003498888] Chr8:99111299..99111300 [GRCh38]
Chr8:100123527..100123528 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5163dup (p.His1722fs) duplication Cohen syndrome [RCV003498930] Chr8:99577575..99577576 [GRCh38]
Chr8:100589803..100589804 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1302+10C>T single nucleotide variant Cohen syndrome [RCV003498862] Chr8:99134737 [GRCh38]
Chr8:100146965 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q22.2(chr8:100523332-100523740)x1 copy number loss not provided [RCV004812248] Chr8:100523332..100523740 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8493C>G (p.Pro2831=) single nucleotide variant Cohen syndrome [RCV003498162] Chr8:99818760 [GRCh38]
Chr8:100830988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3870+18dup duplication Cohen syndrome [RCV003498165] Chr8:99481819..99481820 [GRCh38]
Chr8:100494047..100494048 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+12A>G single nucleotide variant Cohen syndrome [RCV003498173] Chr8:99575796 [GRCh38]
Chr8:100588024 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs) deletion Cohen syndrome [RCV003498183] Chr8:99819531..99819546 [GRCh38]
Chr8:100831759..100831774 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9943-7T>C single nucleotide variant Cohen syndrome [RCV003498192] Chr8:99848769 [GRCh38]
Chr8:100860997 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs) deletion Cohen syndrome [RCV003498198] Chr8:99766913 [GRCh38]
Chr8:100779141 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3118T>C (p.Leu1040=) single nucleotide variant Cohen syndrome [RCV003498222] Chr8:99431572 [GRCh38]
Chr8:100443800 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2177T>C (p.Leu726Pro) single nucleotide variant Cohen syndrome [RCV003499153]|VPS13B-related disorder [RCV004741623] Chr8:99156712 [GRCh38]
Chr8:100168940 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.762+1G>A single nucleotide variant Cohen syndrome [RCV003499223] Chr8:99111280 [GRCh38]
Chr8:100123508 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter) single nucleotide variant Cohen syndrome [RCV003497404] Chr8:99871554 [GRCh38]
Chr8:100883782 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter) single nucleotide variant Cohen syndrome [RCV003497420] Chr8:99717186 [GRCh38]
Chr8:100729414 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10707T>C (p.Asn3569=) single nucleotide variant Cohen syndrome [RCV003497389] Chr8:99854096 [GRCh38]
Chr8:100866324 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8313A>G (p.Arg2771=) single nucleotide variant Cohen syndrome [RCV003498247] Chr8:99817755 [GRCh38]
Chr8:100829983 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9333T>C (p.Tyr3111=) single nucleotide variant Cohen syndrome [RCV003498282] Chr8:99832371 [GRCh38]
Chr8:100844599 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5496C>A (p.Ser1832=) single nucleotide variant Cohen syndrome [RCV003498288] Chr8:99642086 [GRCh38]
Chr8:100654314 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs) insertion Cohen syndrome [RCV003498297] Chr8:99501822..99501823 [GRCh38]
Chr8:100514050..100514051 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7086G>A (p.Gln2362=) single nucleotide variant Cohen syndrome [RCV003498300] Chr8:99766809 [GRCh38]
Chr8:100779037 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2007A>C (p.Gly669=) single nucleotide variant Cohen syndrome [RCV003498321] Chr8:99148004 [GRCh38]
Chr8:100160232 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4026T>C (p.Pro1342=) single nucleotide variant Cohen syndrome [RCV003497703] Chr8:99501842 [GRCh38]
Chr8:100514070 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter) single nucleotide variant Cohen syndrome [RCV003497708] Chr8:99853661 [GRCh38]
Chr8:100865889 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11793G>A (p.Leu3931=) single nucleotide variant Cohen syndrome [RCV003852461] Chr8:99875465 [GRCh38]
Chr8:100887693 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5562A>G (p.Glu1854=) single nucleotide variant Cohen syndrome [RCV003849385] Chr8:99642152 [GRCh38]
Chr8:100654380 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5703G>A (p.Arg1901=) single nucleotide variant Cohen syndrome [RCV005084619] Chr8:99642293 [GRCh38]
Chr8:100654521 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3774G>T (p.Gly1258=) single nucleotide variant Cohen syndrome [RCV003851661] Chr8:99481706 [GRCh38]
Chr8:100493934 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6822A>T (p.Ser2274=) single nucleotide variant Cohen syndrome [RCV003498964] Chr8:99720509 [GRCh38]
Chr8:100732737 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs) deletion Cohen syndrome [RCV003499003] Chr8:99642166 [GRCh38]
Chr8:100654394 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7430-7T>G single nucleotide variant Cohen syndrome [RCV003498325] Chr8:99778675 [GRCh38]
Chr8:100790903 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.117G>A (p.Lys39=) single nucleotide variant Cohen syndrome [RCV003498144] Chr8:99013905 [GRCh38]
Chr8:100026133 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5788C>T (p.Leu1930=) single nucleotide variant Cohen syndrome [RCV003498340] Chr8:99642378 [GRCh38]
Chr8:100654606 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1564-4G>A single nucleotide variant Cohen syndrome [RCV003499027] Chr8:99136661 [GRCh38]
Chr8:100148889 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4077T>C (p.Ser1359=) single nucleotide variant Cohen syndrome [RCV003499070]|VPS13B-related disorder [RCV004741621] Chr8:99502870 [GRCh38]
Chr8:100515098 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4540C>T (p.Leu1514=) single nucleotide variant Cohen syndrome [RCV003498398] Chr8:99511419 [GRCh38]
Chr8:100523647 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4716C>G (p.Gly1572=) single nucleotide variant Cohen syndrome [RCV003498416] Chr8:99520981 [GRCh38]
Chr8:100533209 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-20T>A single nucleotide variant Cohen syndrome [RCV003498331] Chr8:99821274 [GRCh38]
Chr8:100833502 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.351A>G (p.Lys117=) single nucleotide variant Cohen syndrome [RCV003498436] Chr8:99096371 [GRCh38]
Chr8:100108599 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5328T>C (p.Val1776=) single nucleotide variant Cohen syndrome [RCV003499227] Chr8:99641918 [GRCh38]
Chr8:100654146 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter) single nucleotide variant Cohen syndrome [RCV003499265] Chr8:99699706 [GRCh38]
Chr8:100711934 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1426-19A>G single nucleotide variant Cohen syndrome [RCV005062192] Chr8:99135577 [GRCh38]
Chr8:100147805 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5139A>C (p.Leu1713=) single nucleotide variant Cohen syndrome [RCV003498463] Chr8:99577552 [GRCh38]
Chr8:100589780 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs) duplication Cohen syndrome [RCV003498483] Chr8:99868369..99868370 [GRCh38]
Chr8:100880597..100880598 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7779+1G>T single nucleotide variant Cohen syndrome [RCV003498488] Chr8:99779032 [GRCh38]
Chr8:100791260 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7650G>A (p.Gly2550=) single nucleotide variant Cohen syndrome [RCV003498493] Chr8:99778902 [GRCh38]
Chr8:100791130 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10401A>G (p.Lys3467=) single nucleotide variant Cohen syndrome [RCV003499396] Chr8:99853790 [GRCh38]
Chr8:100866018 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6658-15T>A single nucleotide variant Cohen syndrome [RCV003499402] Chr8:99720330 [GRCh38]
Chr8:100732558 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4701T>G (p.Ala1567=) single nucleotide variant Cohen syndrome [RCV003499412] Chr8:99520966 [GRCh38]
Chr8:100533194 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7980T>A (p.Arg2660=) single nucleotide variant Cohen syndrome [RCV003499424] Chr8:99809413 [GRCh38]
Chr8:100821641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter) single nucleotide variant Cohen syndrome [RCV003498514] Chr8:99556638 [GRCh38]
Chr8:100568866 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1101T>C (p.Val367=) single nucleotide variant Cohen syndrome [RCV003498567] Chr8:99121340 [GRCh38]
Chr8:100133568 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9558C>T (p.Pro3186=) single nucleotide variant Cohen syndrome [RCV003498584] Chr8:99832596 [GRCh38]
Chr8:100844824 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10830G>A (p.Leu3610=) single nucleotide variant Cohen syndrome [RCV003498970] Chr8:99854219 [GRCh38]
Chr8:100866447 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs) deletion Cohen syndrome [RCV003498895] Chr8:99817787..99817791 [GRCh38]
Chr8:100830015..100830019 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6658-5dup duplication Cohen syndrome [RCV003499029] Chr8:99720336..99720337 [GRCh38]
Chr8:100732564..100732565 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.6455-17C>A single nucleotide variant Cohen syndrome [RCV003499110] Chr8:99717154 [GRCh38]
Chr8:100729382 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6657+18A>G single nucleotide variant Cohen syndrome [RCV003497419] Chr8:99717391 [GRCh38]
Chr8:100729619 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4230T>C (p.Thr1410=) single nucleotide variant Cohen syndrome [RCV003497628] Chr8:99511109 [GRCh38]
Chr8:100523337 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6658-13del deletion Cohen syndrome [RCV003497555] Chr8:99720326 [GRCh38]
Chr8:100732554 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.413-19_413-18del deletion Cohen syndrome [RCV003497728] Chr8:99102933..99102934 [GRCh38]
Chr8:100115161..100115162 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs) duplication Cohen syndrome [RCV003498591] Chr8:99875479..99875480 [GRCh38]
Chr8:100887707..100887708 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter) single nucleotide variant Cohen syndrome [RCV003498602] Chr8:99391557 [GRCh38]
Chr8:100403785 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4083C>T (p.Ser1361=) single nucleotide variant Cohen syndrome [RCV003498431] Chr8:99502876 [GRCh38]
Chr8:100515104 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8097+7T>G single nucleotide variant Cohen syndrome [RCV003498604] Chr8:99809537 [GRCh38]
Chr8:100821765 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4043-9T>C single nucleotide variant Cohen syndrome [RCV003498605] Chr8:99502827 [GRCh38]
Chr8:100515055 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4746-17T>A single nucleotide variant Cohen syndrome [RCV003498610] Chr8:99556433 [GRCh38]
Chr8:100568661 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+17del deletion Cohen syndrome [RCV003498611] Chr8:99661505 [GRCh38]
Chr8:100673733 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.10344A>G (p.Gly3448=) single nucleotide variant Cohen syndrome [RCV003498612] Chr8:99853733 [GRCh38]
Chr8:100865961 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-9C>T single nucleotide variant Cohen syndrome [RCV003498624] Chr8:99467405 [GRCh38]
Chr8:100479633 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3090C>T (p.Arg1030=) single nucleotide variant Cohen syndrome [RCV003498635] Chr8:99431544 [GRCh38]
Chr8:100443772 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1995T>C (p.Pro665=) single nucleotide variant Cohen syndrome [RCV003498467] Chr8:99147992 [GRCh38]
Chr8:100160220 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6726T>C (p.Asn2242=) single nucleotide variant Cohen syndrome [RCV003497643]|VPS13B-related disorder [RCV004741642] Chr8:99720413 [GRCh38]
Chr8:100732641 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9153A>T (p.Ile3051=) single nucleotide variant Cohen syndrome [RCV003497767] Chr8:99821452 [GRCh38]
Chr8:100833680 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10170A>C (p.Thr3390=) single nucleotide variant Cohen syndrome [RCV003498663] Chr8:99853559 [GRCh38]
Chr8:100865787 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs) duplication Cohen syndrome [RCV003498715] Chr8:99835733..99835734 [GRCh38]
Chr8:100847961..100847962 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8721C>A (p.Ile2907=) single nucleotide variant Cohen syndrome [RCV003499458] Chr8:99819511 [GRCh38]
Chr8:100831739 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220+12C>T single nucleotide variant Cohen syndrome [RCV003499466] Chr8:99577645 [GRCh38]
Chr8:100589873 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844-11T>C single nucleotide variant Cohen syndrome [RCV003498021] Chr8:99147830 [GRCh38]
Chr8:100160058 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1038G>T (p.Val346=) single nucleotide variant Cohen syndrome [RCV003498026] Chr8:99121277 [GRCh38]
Chr8:100133505 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7430-14T>C single nucleotide variant Cohen syndrome [RCV003497826] Chr8:99778668 [GRCh38]
Chr8:100790896 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10578C>T (p.Asn3526=) single nucleotide variant Cohen syndrome [RCV003498741] Chr8:99853967 [GRCh38]
Chr8:100866195 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9952C>T (p.Leu3318=) single nucleotide variant Cohen syndrome [RCV003498744] Chr8:99848785 [GRCh38]
Chr8:100861013 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5770T>C (p.Leu1924=) single nucleotide variant Cohen syndrome [RCV003498750] Chr8:99642360 [GRCh38]
Chr8:100654588 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1207-15T>G single nucleotide variant Cohen syndrome [RCV003498758] Chr8:99134617 [GRCh38]
Chr8:100146845 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+548T>G single nucleotide variant Cohen syndrome [RCV003498761] Chr8:99507751 [GRCh38]
Chr8:100519979 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10728T>C (p.Ala3576=) single nucleotide variant Cohen syndrome [RCV003498784] Chr8:99854117 [GRCh38]
Chr8:100866345 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5496C>T (p.Ser1832=) single nucleotide variant Cohen syndrome [RCV003499322] Chr8:99642086 [GRCh38]
Chr8:100654314 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3666+9A>C single nucleotide variant Cohen syndrome [RCV003499344] Chr8:99467643 [GRCh38]
Chr8:100479871 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+19A>C single nucleotide variant Cohen syndrome [RCV003836244] Chr8:99766989 [GRCh38]
Chr8:100779217 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.285dup (p.Ile96fs) duplication Cohen syndrome [RCV003499365] Chr8:99038557..99038558 [GRCh38]
Chr8:100050785..100050786 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1844-16A>G single nucleotide variant Cohen syndrome [RCV003498137] Chr8:99147825 [GRCh38]
Chr8:100160053 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter) single nucleotide variant Cohen syndrome [RCV003498850] Chr8:99766867 [GRCh38]
Chr8:100779095 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.552A>G (p.Leu184=) single nucleotide variant Cohen syndrome [RCV003498875] Chr8:99103092 [GRCh38]
Chr8:100115320 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3414A>G (p.Pro1138=) single nucleotide variant Cohen syndrome [RCV003499270] Chr8:99442604 [GRCh38]
Chr8:100454832 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+17T>A single nucleotide variant Cohen syndrome [RCV003499808] Chr8:99766987 [GRCh38]
Chr8:100779215 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs) deletion Cohen syndrome [RCV003499790] Chr8:99431662 [GRCh38]
Chr8:100443890 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.11809A>G (p.Lys3937Glu) single nucleotide variant Cohen syndrome [RCV003849425] Chr8:99875481 [GRCh38]
Chr8:100887709 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2019A>C (p.Ser673=) single nucleotide variant Cohen syndrome [RCV003499939] Chr8:99156554 [GRCh38]
Chr8:100168782 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3987G>A (p.Val1329=) single nucleotide variant Cohen syndrome [RCV003499981] Chr8:99501803 [GRCh38]
Chr8:100514031 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9858A>G (p.Pro3286=) single nucleotide variant Cohen syndrome [RCV003499988] Chr8:99835654 [GRCh38]
Chr8:100847882 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.581-18del deletion Cohen syndrome [RCV003811350] Chr8:99111080 [GRCh38]
Chr8:100123308 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3445+11A>T single nucleotide variant Cohen syndrome [RCV003497447] Chr8:99442646 [GRCh38]
Chr8:100454874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-19C>A single nucleotide variant Cohen syndrome [RCV003497472] Chr8:99699506 [GRCh38]
Chr8:100711734 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3723G>A (p.Gln1241=) single nucleotide variant Cohen syndrome [RCV003497717] Chr8:99481655 [GRCh38]
Chr8:100493883 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10980C>A (p.Gly3660=) single nucleotide variant Cohen syndrome [RCV003497790] Chr8:99859416 [GRCh38]
Chr8:100871644 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3312C>T (p.Tyr1104=) single nucleotide variant Cohen syndrome [RCV003498190] Chr8:99442502 [GRCh38]
Chr8:100454730 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3801C>T (p.Ser1267=) single nucleotide variant Cohen syndrome [RCV003817632] Chr8:99481733 [GRCh38]
Chr8:100493961 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6866-12T>C single nucleotide variant Cohen syndrome [RCV003498391] Chr8:99720851 [GRCh38]
Chr8:100733079 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-5T>C single nucleotide variant Cohen syndrome [RCV003498387] Chr8:99832364 [GRCh38]
Chr8:100844592 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter) single nucleotide variant Cohen syndrome [RCV003834193] Chr8:99641823 [GRCh38]
Chr8:100654051 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2073T>C (p.Ile691=) single nucleotide variant Cohen syndrome [RCV003498659] Chr8:99156608 [GRCh38]
Chr8:100168836 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10818T>C (p.Leu3606=) single nucleotide variant Cohen syndrome [RCV003498720]|not specified [RCV004999976] Chr8:99854207 [GRCh38]
Chr8:100866435 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3753C>T (p.Thr1251=) single nucleotide variant Cohen syndrome [RCV003498732] Chr8:99481685 [GRCh38]
Chr8:100493913 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1990C>T (p.Leu664=) single nucleotide variant Cohen syndrome [RCV003840520] Chr8:99147987 [GRCh38]
Chr8:100160215 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8937A>G (p.Gly2979=) single nucleotide variant Cohen syndrome [RCV003498780] Chr8:99820065 [GRCh38]
Chr8:100832293 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5909-16A>T single nucleotide variant Cohen syndrome [RCV003498847] Chr8:99661338 [GRCh38]
Chr8:100673566 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs) duplication Cohen syndrome [RCV003498691] Chr8:99868422..99868423 [GRCh38]
Chr8:100880650..100880651 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7926T>C (p.Ser2642=) single nucleotide variant Cohen syndrome [RCV003498841] Chr8:99784461 [GRCh38]
Chr8:100796689 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-15A>G single nucleotide variant Cohen syndrome [RCV003498950] Chr8:99641796 [GRCh38]
Chr8:100654024 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter) single nucleotide variant Cohen syndrome [RCV003838953] Chr8:99871448 [GRCh38]
Chr8:100883676 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11393-20C>G single nucleotide variant Cohen syndrome [RCV003817053] Chr8:99870765 [GRCh38]
Chr8:100882993 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=) single nucleotide variant Cohen syndrome [RCV003499151]|VPS13B-related disorder [RCV003909007]|not provided [RCV004598266] Chr8:99501719 [GRCh38]
Chr8:100513947 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2333+16T>A single nucleotide variant Cohen syndrome [RCV003499091] Chr8:99170179 [GRCh38]
Chr8:100182407 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11393-12C>G single nucleotide variant Cohen syndrome [RCV003850291] Chr8:99870773 [GRCh38]
Chr8:100883001 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-12T>C single nucleotide variant Cohen syndrome [RCV003499308] Chr8:99501675 [GRCh38]
Chr8:100513903 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1830C>T (p.Ser610=) single nucleotide variant Cohen syndrome [RCV003499362] Chr8:99143152 [GRCh38]
Chr8:100155380 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-20C>A single nucleotide variant Cohen syndrome [RCV003499276] Chr8:99818693 [GRCh38]
Chr8:100830921 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3210+10_3210+11del deletion Cohen syndrome [RCV003499430] Chr8:99431672..99431673 [GRCh38]
Chr8:100443900..100443901 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-5T>G single nucleotide variant Cohen syndrome [RCV003499481] Chr8:99699520 [GRCh38]
Chr8:100711748 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9184-9A>T single nucleotide variant Cohen syndrome [RCV003499251] Chr8:99823823 [GRCh38]
Chr8:100836051 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11493C>G (p.Val3831=) single nucleotide variant Cohen syndrome [RCV003856384] Chr8:99870885 [GRCh38]
Chr8:100883113 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10501T>C (p.Leu3501=) single nucleotide variant Cohen syndrome [RCV003499765] Chr8:99853890 [GRCh38]
Chr8:100866118 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7683G>A (p.Lys2561=) single nucleotide variant Cohen syndrome [RCV003498632] Chr8:99778935 [GRCh38]
Chr8:100791163 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9743-5_9744del deletion Cohen syndrome [RCV003498672] Chr8:99835532..99835538 [GRCh38]
Chr8:100847760..100847766 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9440A>C (p.Gln3147Pro) single nucleotide variant Cohen syndrome [RCV003498712] Chr8:99832478 [GRCh38]
Chr8:100844706 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+715A>C single nucleotide variant Cohen syndrome [RCV003498796] Chr8:99507918 [GRCh38]
Chr8:100520146 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-13C>G single nucleotide variant Cohen syndrome [RCV003498820] Chr8:99853438 [GRCh38]
Chr8:100865666 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter) single nucleotide variant Cohen syndrome [RCV003498831] Chr8:99821389 [GRCh38]
Chr8:100833617 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.291+17C>G single nucleotide variant Cohen syndrome [RCV003498972] Chr8:99038583 [GRCh38]
Chr8:100050811 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8622-10A>C single nucleotide variant Cohen syndrome [RCV003498993] Chr8:99819402 [GRCh38]
Chr8:100831630 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs) deletion Cohen syndrome [RCV003498924] Chr8:99868386 [GRCh38]
Chr8:100880614 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2934+2T>A single nucleotide variant Cohen syndrome [RCV003499053] Chr8:99384319 [GRCh38]
Chr8:100396547 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7815C>T (p.Ser2605=) single nucleotide variant Cohen syndrome [RCV003499055] Chr8:99784350 [GRCh38]
Chr8:100796578 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11082G>C (p.Leu3694=) single nucleotide variant Cohen syndrome [RCV003499148] Chr8:99861813 [GRCh38]
Chr8:100874041 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2935-12G>A single nucleotide variant Cohen syndrome [RCV003856195] Chr8:99391545 [GRCh38]
Chr8:100403773 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7051-17T>G single nucleotide variant Cohen syndrome [RCV003499120] Chr8:99766757 [GRCh38]
Chr8:100778985 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7864del (p.Val2622fs) deletion Cohen syndrome [RCV003499325] Chr8:99784398 [GRCh38]
Chr8:100796626 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9184-2A>G single nucleotide variant Cohen syndrome [RCV003499443] Chr8:99823830 [GRCh38]
Chr8:100836058 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10233G>A (p.Val3411=) single nucleotide variant Cohen syndrome [RCV003499355] Chr8:99853622 [GRCh38]
Chr8:100865850 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7248-11C>A single nucleotide variant Cohen syndrome [RCV003499366] Chr8:99776764 [GRCh38]
Chr8:100788992 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter) single nucleotide variant Cohen syndrome [RCV003499389] Chr8:99809465 [GRCh38]
Chr8:100821693 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11393-16A>C single nucleotide variant Cohen syndrome [RCV003499422] Chr8:99870769 [GRCh38]
Chr8:100882997 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-11C>G single nucleotide variant Cohen syndrome [RCV003816922] Chr8:99501676 [GRCh38]
Chr8:100513904 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-12T>C single nucleotide variant Cohen syndrome [RCV003497438] Chr8:99577478 [GRCh38]
Chr8:100589706 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10405T>C (p.Leu3469=) single nucleotide variant Cohen syndrome [RCV003497490] Chr8:99853794 [GRCh38]
Chr8:100866022 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-15C>T single nucleotide variant Cohen syndrome [RCV003499749] Chr8:99853436 [GRCh38]
Chr8:100865664 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9504T>C (p.Gly3168=) single nucleotide variant Cohen syndrome [RCV003499766] Chr8:99832542 [GRCh38]
Chr8:100844770 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2427A>G (p.Gln809=) single nucleotide variant Cohen syndrome [RCV003499479] Chr8:99192969 [GRCh38]
Chr8:100205197 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10868-9G>T single nucleotide variant Cohen syndrome [RCV003499535] Chr8:99859295 [GRCh38]
Chr8:100871523 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9204C>T (p.Ser3068=) single nucleotide variant Cohen syndrome [RCV003499548] Chr8:99823852 [GRCh38]
Chr8:100836080 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5908+14A>G single nucleotide variant Cohen syndrome [RCV003499581] Chr8:99642512 [GRCh38]
Chr8:100654740 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9309C>T (p.Cys3103=) single nucleotide variant Cohen syndrome [RCV003499589] Chr8:99823957 [GRCh38]
Chr8:100836185 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10449C>T (p.Thr3483=) single nucleotide variant Cohen syndrome [RCV003499593] Chr8:99853838 [GRCh38]
Chr8:100866066 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.147+19_147+20del deletion Cohen syndrome [RCV003497616] Chr8:99013954..99013955 [GRCh38]
Chr8:100026182..100026183 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1386T>C (p.Gly462=) single nucleotide variant Cohen syndrome [RCV003497661] Chr8:99135098 [GRCh38]
Chr8:100147326 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+20T>C single nucleotide variant Cohen syndrome [RCV003499781] Chr8:99575804 [GRCh38]
Chr8:100588032 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+11A>C single nucleotide variant Cohen syndrome [RCV003499782] Chr8:99575795 [GRCh38]
Chr8:100588023 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10386C>G (p.Leu3462=) single nucleotide variant Cohen syndrome [RCV003498030] Chr8:99853775 [GRCh38]
Chr8:100866003 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7293G>A (p.Val2431=) single nucleotide variant Cohen syndrome [RCV003498031] Chr8:99776820 [GRCh38]
Chr8:100789048 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+10T>A single nucleotide variant Cohen syndrome [RCV003498045] Chr8:99135743 [GRCh38]
Chr8:100147971 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6046+8A>G single nucleotide variant Cohen syndrome [RCV003498050] Chr8:99661499 [GRCh38]
Chr8:100673727 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2558del (p.Ile853fs) deletion Cohen syndrome [RCV003498133] Chr8:99274240 [GRCh38]
Chr8:100286468 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11982A>G (p.Lys3994=) single nucleotide variant Cohen syndrome [RCV003499935] Chr8:99875654 [GRCh38]
Chr8:100887882 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter) single nucleotide variant Cohen syndrome [RCV003499802]|not provided [RCV004593340] Chr8:99861910 [GRCh38]
Chr8:100874138 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2334-19T>C single nucleotide variant Cohen syndrome [RCV003855800] Chr8:99192857 [GRCh38]
Chr8:100205085 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3351T>C (p.Cys1117=) single nucleotide variant Cohen syndrome [RCV003498060] Chr8:99442541 [GRCh38]
Chr8:100454769 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11587T>C (p.Leu3863=) single nucleotide variant Cohen syndrome [RCV003498253] Chr8:99871539 [GRCh38]
Chr8:100883767 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4761A>G (p.Leu1587=) single nucleotide variant Cohen syndrome [RCV003499987] Chr8:99556465 [GRCh38]
Chr8:100568693 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs) duplication Cohen syndrome [RCV003855877] Chr8:99720519..99720520 [GRCh38]
Chr8:100732747..100732748 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2209-2A>G single nucleotide variant Cohen syndrome [RCV003498362] Chr8:99170037 [GRCh38]
Chr8:100182265 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1122del (p.Met375fs) deletion Cohen syndrome [RCV003498367] Chr8:99121360 [GRCh38]
Chr8:100133588 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs) deletion Cohen syndrome [RCV003498462] Chr8:99699766..99699772 [GRCh38]
Chr8:100711994..100712000 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2589A>T (p.Thr863=) single nucleotide variant Cohen syndrome [RCV003498671] Chr8:99274271 [GRCh38]
Chr8:100286499 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4893A>G (p.Val1631=) single nucleotide variant Cohen syndrome [RCV003498675] Chr8:99556597 [GRCh38]
Chr8:100568825 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-12T>C single nucleotide variant Cohen syndrome [RCV003498678] Chr8:99809363 [GRCh38]
Chr8:100821591 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11813C>A (p.Thr3938Lys) single nucleotide variant Cohen syndrome [RCV003498713] Chr8:99875485 [GRCh38]
Chr8:100887713 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2422T>C (p.Leu808=) single nucleotide variant Cohen syndrome [RCV003498756] Chr8:99192964 [GRCh38]
Chr8:100205192 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4949+2T>G single nucleotide variant Cohen syndrome [RCV003498760] Chr8:99556655 [GRCh38]
Chr8:100568883 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter) single nucleotide variant Cohen syndrome [RCV003498703] Chr8:99642295 [GRCh38]
Chr8:100654523 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6047-15T>C single nucleotide variant Cohen syndrome [RCV003836956] Chr8:99699510 [GRCh38]
Chr8:100711738 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4620G>A (p.Gln1540=) single nucleotide variant Cohen syndrome [RCV003498794] Chr8:99511499 [GRCh38]
Chr8:100523727 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3252C>T (p.Ser1084=) single nucleotide variant Cohen syndrome [RCV003498818] Chr8:99442442 [GRCh38]
Chr8:100454670 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1406del (p.Asn469fs) deletion Cohen syndrome [RCV003498854] Chr8:99135117 [GRCh38]
Chr8:100147345 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3230G>A (p.Cys1077Tyr) single nucleotide variant Cohen syndrome [RCV003498914] Chr8:99442420 [GRCh38]
Chr8:100454648 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5908+19dup duplication Cohen syndrome [RCV003498922] Chr8:99642516..99642517 [GRCh38]
Chr8:100654744..100654745 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-17G>A single nucleotide variant Cohen syndrome [RCV003498869] Chr8:99853434 [GRCh38]
Chr8:100865662 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.285G>C (p.Gly95=) single nucleotide variant Cohen syndrome [RCV003498985] Chr8:99038560 [GRCh38]
Chr8:100050788 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5077-15C>T single nucleotide variant Cohen syndrome [RCV003838157] Chr8:99577475 [GRCh38]
Chr8:100589703 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2650+15A>G single nucleotide variant Cohen syndrome [RCV003499050] Chr8:99274347 [GRCh38]
Chr8:100286575 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7362T>G (p.Leu2454=) single nucleotide variant Cohen syndrome [RCV003498880] Chr8:99776889 [GRCh38]
Chr8:100789117 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs) insertion Cohen syndrome [RCV003499114] Chr8:99467469..99467470 [GRCh38]
Chr8:100479697..100479698 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2829T>C (p.Ala943=) single nucleotide variant Cohen syndrome [RCV003497460] Chr8:99384212 [GRCh38]
Chr8:100396440 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11769G>C (p.Leu3923=) single nucleotide variant Cohen syndrome [RCV003497557] Chr8:99875441 [GRCh38]
Chr8:100887669 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2100G>T (p.Leu700=) single nucleotide variant Cohen syndrome [RCV003497623] Chr8:99156635 [GRCh38]
Chr8:100168863 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6156A>G (p.Ala2052=) single nucleotide variant Cohen syndrome [RCV003497650] Chr8:99699634 [GRCh38]
Chr8:100711862 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter) single nucleotide variant Cohen syndrome [RCV003497751] Chr8:99467490 [GRCh38]
Chr8:100479718 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2391A>T (p.Thr797=) single nucleotide variant Cohen syndrome [RCV003497761] Chr8:99192933 [GRCh38]
Chr8:100205161 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-4G>A single nucleotide variant Cohen syndrome [RCV003499290] Chr8:99192872 [GRCh38]
Chr8:100205100 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5990G>A (p.Ser1997Asn) single nucleotide variant Cohen syndrome [RCV003497787] Chr8:99661435 [GRCh38]
Chr8:100673663 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9330+13T>C single nucleotide variant Cohen syndrome [RCV003497794] Chr8:99823991 [GRCh38]
Chr8:100836219 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter) single nucleotide variant Cohen syndrome [RCV003497799] Chr8:99642207 [GRCh38]
Chr8:100654435 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5077-6C>G single nucleotide variant Cohen syndrome [RCV003498087] Chr8:99577484 [GRCh38]
Chr8:100589712 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8721C>T (p.Ile2907=) single nucleotide variant Cohen syndrome [RCV003840055] Chr8:99819511 [GRCh38]
Chr8:100831739 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.148-11del deletion Cohen syndrome [RCV003499425] Chr8:99038409 [GRCh38]
Chr8:100050637 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs) deletion Cohen syndrome [RCV003499439] Chr8:99699806..99699807 [GRCh38]
Chr8:100712034..100712035 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8709A>T (p.Thr2903=) single nucleotide variant Cohen syndrome [RCV003499475] Chr8:99819499 [GRCh38]
Chr8:100831727 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5052T>C (p.Val1684=) single nucleotide variant Cohen syndrome [RCV003498265] Chr8:99575760 [GRCh38]
Chr8:100587988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3450T>C (p.Asp1150=) single nucleotide variant Cohen syndrome [RCV003498318] Chr8:99467418 [GRCh38]
Chr8:100479646 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3446-9C>G single nucleotide variant Cohen syndrome [RCV003850411] Chr8:99467405 [GRCh38]
Chr8:100479633 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2014-7T>A single nucleotide variant Cohen syndrome [RCV003499491] Chr8:99156542 [GRCh38]
Chr8:100168770 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6004T>C (p.Ser2002Pro) single nucleotide variant Cohen syndrome [RCV003499532] Chr8:99661449 [GRCh38]
Chr8:100673677 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2209-19T>A single nucleotide variant Cohen syndrome [RCV003499440] Chr8:99170020 [GRCh38]
Chr8:100182248 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2516-10C>T single nucleotide variant Cohen syndrome [RCV003499485] Chr8:99274188 [GRCh38]
Chr8:100286416 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2740A>C (p.Arg914=) single nucleotide variant Cohen syndrome [RCV003498369] Chr8:99275170 [GRCh38]
Chr8:100287398 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10194G>A (p.Val3398=) single nucleotide variant Cohen syndrome [RCV003498400] Chr8:99853583 [GRCh38]
Chr8:100865811 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5221-18A>G single nucleotide variant Cohen syndrome [RCV003498315] Chr8:99641793 [GRCh38]
Chr8:100654021 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4707T>C (p.Asn1569=) single nucleotide variant Cohen syndrome [RCV003498422] Chr8:99520972 [GRCh38]
Chr8:100533200 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6657+15G>T single nucleotide variant Cohen syndrome [RCV003498474] Chr8:99717388 [GRCh38]
Chr8:100729616 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5235A>G (p.Glu1745=) single nucleotide variant Cohen syndrome [RCV003498526] Chr8:99641825 [GRCh38]
Chr8:100654053 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-4C>G single nucleotide variant Cohen syndrome [RCV003499791] Chr8:99809371 [GRCh38]
Chr8:100821599 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.735A>G (p.Leu245=) single nucleotide variant Cohen syndrome [RCV003499850]|VPS13B-related disorder [RCV004723371] Chr8:99111252 [GRCh38]
Chr8:100123480 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs) deletion Cohen syndrome [RCV003499892] Chr8:99699660 [GRCh38]
Chr8:100711888 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11805C>T (p.Ile3935=) single nucleotide variant Cohen syndrome [RCV003854339] Chr8:99875477 [GRCh38]
Chr8:100887705 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1563+14T>A single nucleotide variant Cohen syndrome [RCV003497386] Chr8:99135747 [GRCh38]
Chr8:100147975 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3630C>T (p.Asp1210=) single nucleotide variant Cohen syndrome [RCV003497496] Chr8:99467598 [GRCh38]
Chr8:100479826 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8622-6T>G single nucleotide variant Cohen syndrome [RCV003497535] Chr8:99819406 [GRCh38]
Chr8:100831634 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs) duplication Cohen syndrome [RCV003497642] Chr8:99818474..99818475 [GRCh38]
Chr8:100830702..100830703 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1935C>T (p.Leu645=) single nucleotide variant Cohen syndrome [RCV003497390] Chr8:99147932 [GRCh38]
Chr8:100160160 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-16C>A single nucleotide variant Cohen syndrome [RCV003497471] Chr8:99192860 [GRCh38]
Chr8:100205088 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6454+19G>T single nucleotide variant Cohen syndrome [RCV003497709] Chr8:99699951 [GRCh38]
Chr8:100712179 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.438A>G (p.Arg146=) single nucleotide variant Cohen syndrome [RCV003497723] Chr8:99102978 [GRCh38]
Chr8:100115206 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+20T>A single nucleotide variant Cohen syndrome [RCV003497620] Chr8:99575804 [GRCh38]
Chr8:100588032 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-6A>G single nucleotide variant Cohen syndrome [RCV003497636] Chr8:99431531 [GRCh38]
Chr8:100443759 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3489A>G (p.Ile1163Met) single nucleotide variant Cohen syndrome [RCV003497657] Chr8:99467457 [GRCh38]
Chr8:100479685 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4755G>A (p.Leu1585=) single nucleotide variant Cohen syndrome [RCV003497752] Chr8:99556459 [GRCh38]
Chr8:100568687 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9927C>T (p.Asn3309=) single nucleotide variant Cohen syndrome [RCV003497753] Chr8:99835723 [GRCh38]
Chr8:100847951 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8995-14C>G single nucleotide variant Cohen syndrome [RCV003497686] Chr8:99821280 [GRCh38]
Chr8:100833508 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8886C>T (p.Pro2962=) single nucleotide variant Cohen syndrome [RCV003498151] Chr8:99820014 [GRCh38]
Chr8:100832242 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3667-14dup duplication Cohen syndrome [RCV003498155] Chr8:99481579..99481580 [GRCh38]
Chr8:100493807..100493808 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter) single nucleotide variant Cohen syndrome [RCV003498067] Chr8:99038453 [GRCh38]
Chr8:100050681 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8262T>C (p.Asn2754=) single nucleotide variant Cohen syndrome [RCV003498085] Chr8:99817704 [GRCh38]
Chr8:100829932 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11955C>T (p.Thr3985=) single nucleotide variant Cohen syndrome [RCV003498024] Chr8:99875627 [GRCh38]
Chr8:100887855 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2333+11C>G single nucleotide variant Cohen syndrome [RCV003498158] Chr8:99170174 [GRCh38]
Chr8:100182402 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+2T>A single nucleotide variant Cohen syndrome [RCV003498284] Chr8:99038568 [GRCh38]
Chr8:100050796 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5909-4T>G single nucleotide variant Cohen syndrome [RCV003498386] Chr8:99661350 [GRCh38]
Chr8:100673578 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8362-1G>C single nucleotide variant Cohen syndrome [RCV003498339] Chr8:99818450 [GRCh38]
Chr8:100830678 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8792+15T>C single nucleotide variant Cohen syndrome [RCV003815800] Chr8:99819597 [GRCh38]
Chr8:100831825 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9630A>C (p.Thr3210=) single nucleotide variant Cohen syndrome [RCV003498301] Chr8:99835212 [GRCh38]
Chr8:100847440 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs) deletion Cohen syndrome [RCV003498586] Chr8:99832486 [GRCh38]
Chr8:100844714 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5223C>T (p.Ile1741=) single nucleotide variant Cohen syndrome [RCV003498615] Chr8:99641813 [GRCh38]
Chr8:100654041 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1203C>T (p.Phe401=) single nucleotide variant Cohen syndrome [RCV003498642] Chr8:99121442 [GRCh38]
Chr8:100133670 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter) single nucleotide variant Cohen syndrome [RCV003498665] Chr8:99156725 [GRCh38]
Chr8:100168953 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7050+13C>T single nucleotide variant Cohen syndrome [RCV003499842] Chr8:99721060 [GRCh38]
Chr8:100733288 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8098-19A>G single nucleotide variant Cohen syndrome [RCV003499849] Chr8:99817521 [GRCh38]
Chr8:100829749 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2824+15A>G single nucleotide variant Cohen syndrome [RCV003499887] Chr8:99275269 [GRCh38]
Chr8:100287497 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11634C>T (p.Asp3878=) single nucleotide variant Cohen syndrome [RCV003498404] Chr8:99871586 [GRCh38]
Chr8:100883814 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11730G>T (p.Val3910=) single nucleotide variant Cohen syndrome [RCV003498454] Chr8:99871682 [GRCh38]
Chr8:100883910 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8718G>A (p.Gln2906=) single nucleotide variant Cohen syndrome [RCV003498243] Chr8:99819508 [GRCh38]
Chr8:100831736 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-8T>G single nucleotide variant Cohen syndrome [RCV003498561] Chr8:99809367 [GRCh38]
Chr8:100821595 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.456C>T (p.Asn152=) single nucleotide variant Cohen syndrome [RCV003498564] Chr8:99102996 [GRCh38]
Chr8:100115224 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8655C>T (p.Pro2885=) single nucleotide variant Cohen syndrome [RCV003498864] Chr8:99819445 [GRCh38]
Chr8:100831673 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.937+7T>C single nucleotide variant Cohen syndrome [RCV003498689] Chr8:99115881 [GRCh38]
Chr8:100128109 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+20G>T single nucleotide variant Cohen syndrome [RCV003838266] Chr8:99121465 [GRCh38]
Chr8:100133693 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2334-20C>A single nucleotide variant Cohen syndrome [RCV003498735] Chr8:99192856 [GRCh38]
Chr8:100205084 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs) deletion Cohen syndrome [RCV003498814] Chr8:99778815 [GRCh38]
Chr8:100791043 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4434T>C (p.Leu1478=) single nucleotide variant Cohen syndrome [RCV003498949] Chr8:99511313 [GRCh38]
Chr8:100523541 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8355C>T (p.Val2785=) single nucleotide variant Cohen syndrome [RCV003498912] Chr8:99817797 [GRCh38]
Chr8:100830025 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4633+1G>A single nucleotide variant Cohen syndrome [RCV003498936] Chr8:99511513 [GRCh38]
Chr8:100523741 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7429+13T>A single nucleotide variant Cohen syndrome [RCV003498969] Chr8:99776969 [GRCh38]
Chr8:100789197 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5778A>G (p.Leu1926=) single nucleotide variant Cohen syndrome [RCV003498982] Chr8:99642368 [GRCh38]
Chr8:100654596 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter) single nucleotide variant Cohen syndrome [RCV003499113] Chr8:99661464 [GRCh38]
Chr8:100673692 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.210A>C (p.Pro70=) single nucleotide variant Cohen syndrome [RCV003499156] Chr8:99038485 [GRCh38]
Chr8:100050713 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5043C>T (p.Thr1681=) single nucleotide variant Cohen syndrome [RCV003499083] Chr8:99575751 [GRCh38]
Chr8:100587979 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.994G>C (p.Glu332Gln) single nucleotide variant Cohen syndrome [RCV003499197] Chr8:99121233 [GRCh38]
Chr8:100133461 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4950-10_4950-9insG insertion Cohen syndrome [RCV003499225] Chr8:99575648..99575649 [GRCh38]
Chr8:100587876..100587877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs) microsatellite Cohen syndrome [RCV003499229] Chr8:99717233..99717236 [GRCh38]
Chr8:100729461..100729464 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.7163T>A (p.Leu2388His) single nucleotide variant Cohen syndrome [RCV003499283] Chr8:99766886 [GRCh38]
Chr8:100779114 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4745+7T>G single nucleotide variant Cohen syndrome [RCV003852590] Chr8:99521017 [GRCh38]
Chr8:100533245 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1652-19A>G single nucleotide variant Cohen syndrome [RCV003811414] Chr8:99142955 [GRCh38]
Chr8:100155183 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8098-9G>A single nucleotide variant Cohen syndrome [RCV003499359] Chr8:99817531 [GRCh38]
Chr8:100829759 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10761T>C (p.Thr3587=) single nucleotide variant Cohen syndrome [RCV003499423] Chr8:99854150 [GRCh38]
Chr8:100866378 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+12C>T single nucleotide variant Cohen syndrome [RCV003837534] Chr8:99121457 [GRCh38]
Chr8:100133685 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2505C>T (p.Phe835=) single nucleotide variant Cohen syndrome [RCV003499616] Chr8:99193047 [GRCh38]
Chr8:100205275 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8297A>T (p.Asp2766Val) single nucleotide variant Cohen syndrome [RCV003499629] Chr8:99817739 [GRCh38]
Chr8:100829967 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8995-20T>C single nucleotide variant Cohen syndrome [RCV003499631] Chr8:99821274 [GRCh38]
Chr8:100833502 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7410C>T (p.His2470=) single nucleotide variant Cohen syndrome [RCV003499710] Chr8:99776937 [GRCh38]
Chr8:100789165 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10660T>C (p.Leu3554=) single nucleotide variant Cohen syndrome [RCV003499411] Chr8:99854049 [GRCh38]
Chr8:100866277 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8493C>T (p.Pro2831=) single nucleotide variant Cohen syndrome [RCV003499601] Chr8:99818760 [GRCh38]
Chr8:100830988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+18G>A single nucleotide variant Cohen syndrome [RCV003499618] Chr8:99871715 [GRCh38]
Chr8:100883943 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9943-11T>C single nucleotide variant Cohen syndrome [RCV003499634] Chr8:99848765 [GRCh38]
Chr8:100860993 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2523A>G (p.Lys841=) single nucleotide variant Cohen syndrome [RCV003499653] Chr8:99274205 [GRCh38]
Chr8:100286433 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8250A>C (p.Ile2750=) single nucleotide variant Cohen syndrome [RCV003499696] Chr8:99817692 [GRCh38]
Chr8:100829920 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2651-5T>G single nucleotide variant Cohen syndrome [RCV003499726] Chr8:99275076 [GRCh38]
Chr8:100287304 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8445+1G>C single nucleotide variant Cohen syndrome [RCV003499751] Chr8:99818535 [GRCh38]
Chr8:100830763 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs) deletion Cohen syndrome [RCV003865819] Chr8:99853468 [GRCh38]
Chr8:100865696 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3536T>G (p.Met1179Arg) single nucleotide variant Cohen syndrome [RCV003853481] Chr8:99467504 [GRCh38]
Chr8:100479732 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10020C>A (p.Ala3340=) single nucleotide variant Cohen syndrome [RCV003862998] Chr8:99848853 [GRCh38]
Chr8:100861081 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10476T>C (p.Cys3492=) single nucleotide variant Cohen syndrome [RCV003843078] Chr8:99853865 [GRCh38]
Chr8:100866093 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11583G>T (p.Gly3861=) single nucleotide variant Cohen syndrome [RCV003864930] Chr8:99871535 [GRCh38]
Chr8:100883763 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2935-17A>G single nucleotide variant Cohen syndrome [RCV003861838] Chr8:99391540 [GRCh38]
Chr8:100403768 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7860C>A (p.Gly2620=) single nucleotide variant Cohen syndrome [RCV003846744] Chr8:99784395 [GRCh38]
Chr8:100796623 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5076+8C>A single nucleotide variant Cohen syndrome [RCV003866549] Chr8:99575792 [GRCh38]
Chr8:100588020 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2934+19A>T single nucleotide variant Cohen syndrome [RCV003859229] Chr8:99384336 [GRCh38]
Chr8:100396564 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9498C>G (p.Ala3166=) single nucleotide variant Cohen syndrome [RCV003863775] Chr8:99832536 [GRCh38]
Chr8:100844764 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11979G>A (p.Arg3993=) single nucleotide variant Cohen syndrome [RCV003870578] Chr8:99875651 [GRCh38]
Chr8:100887879 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-15T>A single nucleotide variant Cohen syndrome [RCV003871033] Chr8:99102938 [GRCh38]
Chr8:100115166 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10062-16T>G single nucleotide variant Cohen syndrome [RCV003871086] Chr8:99853435 [GRCh38]
Chr8:100865663 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter) single nucleotide variant Cohen syndrome [RCV003871336] Chr8:99135030 [GRCh38]
Chr8:100147258 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.413-18T>C single nucleotide variant Cohen syndrome [RCV003843694] Chr8:99102935 [GRCh38]
Chr8:100115163 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10359C>T (p.Pro3453=) single nucleotide variant Cohen syndrome [RCV003863911] Chr8:99853748 [GRCh38]
Chr8:100865976 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6519A>G (p.Lys2173=) single nucleotide variant Cohen syndrome [RCV003867338] Chr8:99717235 [GRCh38]
Chr8:100729463 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1426-14G>A single nucleotide variant Cohen syndrome [RCV003871571] Chr8:99135582 [GRCh38]
Chr8:100147810 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_152564.5(VPS13B):c.6047-11T>C single nucleotide variant Cohen syndrome [RCV003843879] Chr8:99699514 [GRCh38]
Chr8:100711742 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6456C>T (p.Gly2152=) single nucleotide variant Cohen syndrome [RCV003868248] Chr8:99717172 [GRCh38]
Chr8:100729400 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10038A>G (p.Gly3346=) single nucleotide variant Cohen syndrome [RCV003867646] Chr8:99848871 [GRCh38]
Chr8:100861099 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1081G>A (p.Asp361Asn) single nucleotide variant Cohen syndrome [RCV003818850] Chr8:99121320 [GRCh38]
Chr8:100133548 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8001G>A (p.Val2667=) single nucleotide variant Cohen syndrome [RCV003848523] Chr8:99809434 [GRCh38]
Chr8:100821662 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2516-13T>A single nucleotide variant Cohen syndrome [RCV003866942] Chr8:99274185 [GRCh38]
Chr8:100286413 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs) duplication Cohen syndrome [RCV003870579] Chr8:99699702..99699703 [GRCh38]
Chr8:100711930..100711931 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9331-15_9331-3dup duplication VPS13B-related disorder [RCV003939640] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_003114.5(SPAG1):c.1314C>T (p.Gly438=) single nucleotide variant Primary ciliary dyskinesia 28 [RCV003742258]|Primary ciliary dyskinesia [RCV004371861]|VPS13B-related disorder [RCV003909086] Chr8:100213307 [GRCh38]
Chr8:101225535 [GRCh37]
Chr8:8q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_152564.5(VPS13B):c.1302+17G>A single nucleotide variant Cohen syndrome [RCV003864925] Chr8:99134744 [GRCh38]
Chr8:100146972 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1425+17C>T single nucleotide variant Cohen syndrome [RCV003859535] Chr8:99135154 [GRCh38]
Chr8:100147382 [GRCh37]
Chr8:8q22.2		 likely benign
NM_003114.5(SPAG1):c.301-8A>G single nucleotide variant Primary ciliary dyskinesia 28 [RCV000474652]|VPS13B-related disorder [RCV003925380]|not provided [RCV004705615] Chr8:100177808 [GRCh38]
Chr8:101190036 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5220+18T>C single nucleotide variant Cohen syndrome [RCV003822509] Chr8:99577651 [GRCh38]
Chr8:100589879 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7248-9T>G single nucleotide variant Cohen syndrome [RCV003865439] Chr8:99776766 [GRCh38]
Chr8:100788994 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1335C>T (p.Cys445=) single nucleotide variant Cohen syndrome [RCV003853436]|VPS13B-related disorder [RCV004741739] Chr8:99135047 [GRCh38]
Chr8:100147275 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-12_9331-3dup duplication VPS13B-related disorder [RCV003941399] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9614+8_9614+9del deletion Cohen syndrome [RCV003862396] Chr8:99832659..99832660 [GRCh38]
Chr8:100844887..100844888 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8q22.2(chr8:100709537-101192245)x3 copy number gain not specified [RCV003986772] Chr8:100709537..101192245 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7119G>C (p.Leu2373=) single nucleotide variant Cohen syndrome [RCV003865417] Chr8:99766842 [GRCh38]
Chr8:100779070 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3871-17T>C single nucleotide variant Cohen syndrome [RCV003863664] Chr8:99501670 [GRCh38]
Chr8:100513898 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.291+11A>G single nucleotide variant Cohen syndrome [RCV003862303] Chr8:99038577 [GRCh38]
Chr8:100050805 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.762+11C>T single nucleotide variant Cohen syndrome [RCV003863961] Chr8:99111290 [GRCh38]
Chr8:100123518 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.413-19C>A single nucleotide variant Cohen syndrome [RCV003820464] Chr8:99102934 [GRCh38]
Chr8:100115162 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5895T>C (p.Asp1965=) single nucleotide variant Cohen syndrome [RCV003819371] Chr8:99642485 [GRCh38]
Chr8:100654713 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7247+17T>C single nucleotide variant Cohen syndrome [RCV003818217] Chr8:99766987 [GRCh38]
Chr8:100779215 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1032A>G (p.Gly344=) single nucleotide variant Cohen syndrome [RCV003844948] Chr8:99121271 [GRCh38]
Chr8:100133499 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs) deletion Cohen syndrome [RCV003822498] Chr8:99871458..99871459 [GRCh38]
Chr8:100883686..100883687 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4379CTC[1] (p.Pro1461del) microsatellite Cohen syndrome [RCV003861641] Chr8:99511258..99511260 [GRCh38]
Chr8:100523486..100523488 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6777A>G (p.Ser2259=) single nucleotide variant Cohen syndrome [RCV003818770] Chr8:99720464 [GRCh38]
Chr8:100732692 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+1G>A single nucleotide variant Cohen syndrome [RCV003823258] Chr8:99870888 [GRCh38]
Chr8:100883116 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.480A>G (p.Leu160=) single nucleotide variant Cohen syndrome [RCV003863590] Chr8:99103020 [GRCh38]
Chr8:100115248 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1206+7C>G single nucleotide variant Cohen syndrome [RCV003847312] Chr8:99121452 [GRCh38]
Chr8:100133680 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8871G>A (p.Leu2957=) single nucleotide variant Cohen syndrome [RCV003847023] Chr8:99819999 [GRCh38]
Chr8:100832227 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9183+20G>T single nucleotide variant Cohen syndrome [RCV003845470] Chr8:99821502 [GRCh38]
Chr8:100833730 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter) single nucleotide variant Cohen syndrome [RCV003989174] Chr8:99170077 [GRCh38]
Chr8:100182305 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11763G>A (p.Glu3921=) single nucleotide variant not provided [RCV003887540] Chr8:99875435 [GRCh38]
Chr8:100887663 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+16617C>T single nucleotide variant VPS13B-related disorder [RCV003907054] Chr8:99209674 [GRCh38]
Chr8:100221902 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4542G>A (p.Leu1514=) single nucleotide variant VPS13B-related disorder [RCV003949702] Chr8:99511421 [GRCh38]
Chr8:100523649 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11938T>G (p.Phe3980Val) single nucleotide variant Cohen syndrome [RCV003988723] Chr8:99875610 [GRCh38]
Chr8:100887838 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11019A>G (p.Thr3673=) single nucleotide variant not provided [RCV003993294] Chr8:99859455 [GRCh38]
Chr8:100871683 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-19_9331-3dup duplication VPS13B-related disorder [RCV003924438] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-8_9331-3del deletion VPS13B-related disorder [RCV003906893] Chr8:99832342..99832347 [GRCh38]
Chr8:100844570..100844575 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1114G>C (p.Ala372Pro) single nucleotide variant VPS13B-related disorder [RCV003982605] Chr8:99121353 [GRCh38]
Chr8:100133581 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-7_9331-3del deletion VPS13B-related disorder [RCV003979307] Chr8:99832342..99832346 [GRCh38]
Chr8:100844570..100844574 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4325C>G (p.Ser1442Ter) single nucleotide variant not provided [RCV004546931] Chr8:99511204 [GRCh38]
Chr8:100523432 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9418G>A (p.Asp3140Asn) single nucleotide variant VPS13B-related disorder [RCV003896879] Chr8:99832456 [GRCh38]
Chr8:100844684 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7578A>T (p.Gln2526His) single nucleotide variant VPS13B-related disorder [RCV003983362] Chr8:99778830 [GRCh38]
Chr8:100791058 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+7C>A single nucleotide variant VPS13B-related disorder [RCV003967129] Chr8:99507210 [GRCh38]
Chr8:100519438 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.100471156A>G single nucleotide variant VPS13B-related disorder [RCV003899257] Chr8:100471156 [GRCh38]
Chr8:101483384 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3211C>T (p.Leu1071Phe) single nucleotide variant Inborn genetic diseases [RCV004968574]|VPS13B-related disorder [RCV003979047] Chr8:99442401 [GRCh38]
Chr8:100454629 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-11_9331-3dup duplication VPS13B-related disorder [RCV003941934] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-20_9331-3dup duplication VPS13B-related disorder [RCV003924763] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.100471416C>T single nucleotide variant VPS13B-related disorder [RCV003894131] Chr8:100471416 [GRCh38]
Chr8:101483644 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.545G>C (p.Gly182Ala) single nucleotide variant VPS13B-related disorder [RCV003894385] Chr8:99103085 [GRCh38]
Chr8:100115313 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7622G>T (p.Ser2541Ile) single nucleotide variant Inborn genetic diseases [RCV004968560]|VPS13B-related disorder [RCV003901393] Chr8:99778874 [GRCh38]
Chr8:100791102 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+16595C>T single nucleotide variant VPS13B-related disorder [RCV003964530] Chr8:99209652 [GRCh38]
Chr8:100221880 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8346C>G (p.Tyr2782Ter) single nucleotide variant VPS13B-related disorder [RCV003899073] Chr8:99817788 [GRCh38]
Chr8:100830016 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10334del (p.Val3445fs) deletion not provided [RCV004546932] Chr8:99853723 [GRCh38]
Chr8:100865951 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9331-18_9331-3dup duplication VPS13B-related disorder [RCV003941907] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1844A>G (p.Asp615Gly) single nucleotide variant VPS13B-related disorder [RCV003943947] Chr8:99147841 [GRCh38]
Chr8:100160069 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11664A>G (p.Glu3888=) single nucleotide variant VPS13B-related disorder [RCV003977038] Chr8:99871616 [GRCh38]
Chr8:100883844 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+16524_2515+16525del deletion VPS13B-related disorder [RCV003919718] Chr8:99209567..99209568 [GRCh38]
Chr8:100221795..100221796 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.9331-16_9331-3dup duplication VPS13B-related disorder [RCV003919778] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8208T>C (p.His2736=) single nucleotide variant not provided [RCV003887283] Chr8:99817650 [GRCh38]
Chr8:100829878 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.100471152C>T single nucleotide variant VPS13B-related disorder [RCV003894146] Chr8:100471152 [GRCh38]
Chr8:101483380 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10479T>C (p.Asp3493=) single nucleotide variant VPS13B-related disorder [RCV003913817] Chr8:99853868 [GRCh38]
Chr8:100866096 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10867+37G>A single nucleotide variant VPS13B-related disorder [RCV003971841] Chr8:99854293 [GRCh38]
Chr8:100866521 [GRCh37]
Chr8:8q22.2		 benign
NM_152564.5(VPS13B):c.2274A>G (p.Pro758=) single nucleotide variant VPS13B-related disorder [RCV003979700] Chr8:99170104 [GRCh38]
Chr8:100182332 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+16522_2515+16525del deletion VPS13B-related disorder [RCV003909344] Chr8:99209567..99209570 [GRCh38]
Chr8:100221795..100221798 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8148A>G (p.Ile2716Met) single nucleotide variant VPS13B-related disorder [RCV003959037] Chr8:99817590 [GRCh38]
Chr8:100829818 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_003114.5(SPAG1):c.2021A>G (p.Glu674Gly) single nucleotide variant Primary ciliary dyskinesia 28 [RCV001300241]|VPS13B-related disorder [RCV003945979] Chr8:100233443 [GRCh38]
Chr8:101245671 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.9331-13_9331-3dup duplication VPS13B-related disorder [RCV003904241] Chr8:99832341..99832342 [GRCh38]
Chr8:100844569..100844570 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2698G>A (p.Asp900Asn) single nucleotide variant not provided [RCV004592356] Chr8:99275128 [GRCh38]
Chr8:100287356 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11029_11030del (p.Lys3677fs) deletion not provided [RCV004585964] Chr8:99859464..99859465 [GRCh38]
Chr8:100871692..100871693 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11641C>T (p.Gln3881Ter) single nucleotide variant Cohen syndrome [RCV004595118] Chr8:99871593 [GRCh38]
Chr8:100883821 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11084C>G (p.Ala3695Gly) single nucleotide variant Inborn genetic diseases [RCV004482662] Chr8:99861815 [GRCh38]
Chr8:100874043 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1925G>A (p.Ser642Asn) single nucleotide variant Inborn genetic diseases [RCV004482663] Chr8:99147922 [GRCh38]
Chr8:100160150 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2156C>T (p.Thr719Ile) single nucleotide variant Inborn genetic diseases [RCV004482664] Chr8:99156691 [GRCh38]
Chr8:100168919 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2213T>C (p.Phe738Ser) single nucleotide variant Inborn genetic diseases [RCV004482665] Chr8:99170043 [GRCh38]
Chr8:100182271 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2378T>C (p.Leu793Pro) single nucleotide variant Inborn genetic diseases [RCV004482666] Chr8:99192920 [GRCh38]
Chr8:100205148 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2396A>G (p.Gln799Arg) single nucleotide variant Inborn genetic diseases [RCV004482667] Chr8:99192938 [GRCh38]
Chr8:100205166 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2889G>T (p.Trp963Cys) single nucleotide variant Inborn genetic diseases [RCV004482668] Chr8:99384272 [GRCh38]
Chr8:100396500 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3128C>A (p.Ser1043Tyr) single nucleotide variant Inborn genetic diseases [RCV004482669] Chr8:99431582 [GRCh38]
Chr8:100443810 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3266G>A (p.Ser1089Asn) single nucleotide variant Inborn genetic diseases [RCV004482670] Chr8:99442456 [GRCh38]
Chr8:100454684 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.35G>A (p.Ser12Asn) single nucleotide variant Inborn genetic diseases [RCV004482671] Chr8:99013823 [GRCh38]
Chr8:100026051 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.386C>T (p.Ala129Val) single nucleotide variant Inborn genetic diseases [RCV004482672] Chr8:99096406 [GRCh38]
Chr8:100108634 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4015G>T (p.Ala1339Ser) single nucleotide variant Inborn genetic diseases [RCV004482673] Chr8:99501831 [GRCh38]
Chr8:100514059 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4142A>T (p.Asp1381Val) single nucleotide variant Inborn genetic diseases [RCV004482674] Chr8:99502935 [GRCh38]
Chr8:100515163 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4325C>T (p.Ser1442Leu) single nucleotide variant Inborn genetic diseases [RCV004482675] Chr8:99511204 [GRCh38]
Chr8:100523432 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5986A>C (p.Lys1996Gln) single nucleotide variant Inborn genetic diseases [RCV004482676] Chr8:99661431 [GRCh38]
Chr8:100673659 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6010A>G (p.Ile2004Val) single nucleotide variant Inborn genetic diseases [RCV004482677]|VPS13B-related disorder [RCV004741770] Chr8:99661455 [GRCh38]
Chr8:100673683 [GRCh37]
Chr8:8q22.2		 likely benign|uncertain significance
NM_152564.5(VPS13B):c.6168G>C (p.Glu2056Asp) single nucleotide variant Inborn genetic diseases [RCV004482678]|VPS13B-related disorder [RCV004741771] Chr8:99699646 [GRCh38]
Chr8:100711874 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6268G>A (p.Val2090Met) single nucleotide variant Inborn genetic diseases [RCV004482679] Chr8:99699746 [GRCh38]
Chr8:100711974 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6569A>G (p.Glu2190Gly) single nucleotide variant Inborn genetic diseases [RCV004482680] Chr8:99717285 [GRCh38]
Chr8:100729513 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8318T>C (p.Val2773Ala) single nucleotide variant Inborn genetic diseases [RCV004482682] Chr8:99817760 [GRCh38]
Chr8:100829988 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9756T>A (p.Phe3252Leu) single nucleotide variant Inborn genetic diseases [RCV004482685] Chr8:99835552 [GRCh38]
Chr8:100847780 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100108520)_(100403952_?)del deletion Cohen syndrome [RCV004583218] Chr8:100108520..100403952 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100882993)_(100883945_?)del deletion Cohen syndrome [RCV004583226] Chr8:100882993..100883945 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100403765)_(100403952_?)dup duplication Cohen syndrome [RCV004583229] Chr8:100403765..100403952 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100790890)_(100836226_?)dup duplication Cohen syndrome [RCV004583236] Chr8:100790890..100836226 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100781239)_(100789156_?)del deletion Cohen syndrome [RCV004583242] Chr8:100781239..100789156 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100115944)_(100711757_?)del deletion Cohen syndrome [RCV004583245] Chr8:100115944..100711757 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100050631)_(100287502_?)dup duplication Cohen syndrome [RCV004583231] Chr8:100050631..100287502 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_99594279)_(100513908_?)del deletion Cohen syndrome [RCV004583193] Chr8:99594279..100513908 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100396416)_(100479882_?)del deletion Cohen syndrome [RCV004583203] Chr8:100396416..100479882 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100711743)_(100733285_?)del deletion Cohen syndrome [RCV004583217] Chr8:100711743..100733285 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100115161)_(100123527_?)del deletion Cohen syndrome [RCV004583223] Chr8:100115161..100123527 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100443745)_(100533258_?)dup duplication Cohen syndrome [RCV004583230] Chr8:100443745..100533258 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100479254)_(100479653_?)del deletion Cohen syndrome [RCV004583239] Chr8:100479254..100479653 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100515082)_(100516199_?)del deletion Cohen syndrome [RCV004583240] Chr8:100515082..100516199 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100286406)_(100515198_?)del deletion Cohen syndrome [RCV004583201] Chr8:100286406..100515198 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5793C>G (p.Tyr1931Ter) single nucleotide variant not provided [RCV004698240] Chr8:99642383 [GRCh38]
Chr8:100654611 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11915_11916insG (p.Val3972_Asp3973insTer) insertion not provided [RCV004599200] Chr8:99875587..99875588 [GRCh38]
Chr8:100887815..100887816 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1363A>G (p.Met455Val) single nucleotide variant Inborn genetic diseases [RCV004688647] Chr8:99135075 [GRCh38]
Chr8:100147303 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11707G>C (p.Val3903Leu) single nucleotide variant Inborn genetic diseases [RCV004683160]|VPS13B-related disorder [RCV004741797] Chr8:99871659 [GRCh38]
Chr8:100883887 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9646G>C (p.Gly3216Arg) single nucleotide variant Inborn genetic diseases [RCV004683162] Chr8:99835228 [GRCh38]
Chr8:100847456 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100108520)_(100108680_?)del deletion Cohen syndrome [RCV004583191] Chr8:100108520..100108680 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100182257)_(100287492_?)del deletion Cohen syndrome [RCV004583195] Chr8:100182257..100287492 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100182247)_(100403952_?)del deletion Cohen syndrome [RCV004583196] Chr8:100182247..100403952 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100523312)_(100779218_?)del deletion Cohen syndrome [RCV004583209] Chr8:100523312..100779218 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100146840)_(100403952_?)del deletion Cohen syndrome [RCV004583228] Chr8:100146840..100403952 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100205084)_(100205305_?)del deletion Cohen syndrome [RCV004583189] Chr8:100205084..100205305 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100479622)_(100479882_?)del deletion Cohen syndrome [RCV004583190] Chr8:100479622..100479882 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100396416)_(100515198_?)del deletion Cohen syndrome [RCV004583204] Chr8:100396416..100515198 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100050631)_(100205305_?)del deletion Cohen syndrome [RCV004583212] Chr8:100050631..100205305 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100533107)_(100589881_?)del deletion Cohen syndrome [RCV004583213] Chr8:100533107..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100587866)_(100589881_?)del deletion Cohen syndrome [RCV004583214] Chr8:100587866..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100654019)_(100887894_?)del deletion Cohen syndrome [RCV004583216] Chr8:100654019..100887894 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100108520)_(100115368_?)del deletion Cohen syndrome [RCV004583219] Chr8:100108520..100115368 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100133385)_(100160258_?)dup duplication Cohen syndrome [RCV004583237] Chr8:100133385..100160258 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100162579)_(100168929_?)del deletion Cohen syndrome [RCV004583238] Chr8:100162579..100168929 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2878T>G (p.Leu960Val) single nucleotide variant Inborn genetic diseases [RCV004683163] Chr8:99384261 [GRCh38]
Chr8:100396489 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8778G>C (p.Lys2926Asn) single nucleotide variant Inborn genetic diseases [RCV004683164] Chr8:99819568 [GRCh38]
Chr8:100831796 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4705A>C (p.Asn1569His) single nucleotide variant Inborn genetic diseases [RCV004683165] Chr8:99520970 [GRCh38]
Chr8:100533198 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11219C>T (p.Ala3740Val) single nucleotide variant Inborn genetic diseases [RCV004683166] Chr8:99868292 [GRCh38]
Chr8:100880520 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3050C>T (p.Ala1017Val) single nucleotide variant Inborn genetic diseases [RCV004683168] Chr8:99391672 [GRCh38]
Chr8:100403900 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3393G>A (p.Met1131Ile) single nucleotide variant not provided [RCV004590487] Chr8:99442583 [GRCh38]
Chr8:100454811 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100286406)_(100533258_?)del deletion Cohen syndrome [RCV004583202] Chr8:100286406..100533258 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100479619)_(100533258_?)del deletion Cohen syndrome [RCV004583207] Chr8:100479619..100533258 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100515082)_(100589871_?)del deletion Cohen syndrome [RCV004583208] Chr8:100515082..100589871 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100050631)_(100155413_?)del deletion Cohen syndrome [RCV004583211] Chr8:100050631..100155413 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1609del (p.Tyr537fs) deletion not provided [RCV004599199] Chr8:99136706 [GRCh38]
Chr8:100148934 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100880497)_(100887894_?)del deletion Cohen syndrome [RCV004583224] Chr8:100880497..100887894 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100050713)_(100057034_?)del deletion Cohen syndrome [RCV004583241] Chr8:100050713..100057034 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1829del (p.Ser610fs) deletion Autism [RCV004698683] Chr8:99143151 [GRCh38]
Chr8:100155379 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3272T>C (p.Ile1091Thr) single nucleotide variant Inborn genetic diseases [RCV004688645] Chr8:99442462 [GRCh38]
Chr8:100454690 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3511G>T (p.Val1171Leu) single nucleotide variant Inborn genetic diseases [RCV004688646] Chr8:99467479 [GRCh38]
Chr8:100479707 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_100168757)_(100205305_?)del deletion Cohen syndrome [RCV004583194] Chr8:100168757..100205305 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100454609)_(100589881_?)del deletion Cohen syndrome [RCV004583206] Chr8:100454609..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100123306)_(100168991_?)del deletion Cohen syndrome [RCV004583225] Chr8:100123306..100168991 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100182247)_(100589881_?)del deletion Cohen syndrome [RCV004583197] Chr8:100182247..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100205084)_(100589881_?)del deletion Cohen syndrome [RCV004583198] Chr8:100205084..100589881 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100587866)_(100712180_?)del deletion Cohen syndrome [RCV004583215] Chr8:100587866..100712180 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100133385)_(100133693_?)del deletion Cohen syndrome [RCV004583192] Chr8:100133385..100133693 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100788983)_(100791279_?)del deletion Cohen syndrome [RCV004583220] Chr8:100788983..100791279 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100127908)_(100287502_?)del deletion Cohen syndrome [RCV004583227] Chr8:100127908..100287502 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100050631)_(100128122_?)dup duplication Cohen syndrome [RCV004583232] Chr8:100050631..100128122 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100673562)_(100847986_?)dup duplication Cohen syndrome [RCV004583234] Chr8:100673562..100847986 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NC_000008.10:g.(?_100108520)_(100155413_?)dup duplication Cohen syndrome [RCV004583235] Chr8:100108520..100155413 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_99346108)_(100589843_?)del deletion Cohen syndrome [RCV004583243] Chr8:99346108..100589843 [GRCh37]
Chr8:8q22.2		 pathogenic
NC_000008.10:g.(?_100286406)_(100287502_?)del deletion Cohen syndrome [RCV004583200] Chr8:100286406..100287502 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9637dup (p.Glu3213fs) duplication Susceptibility to severe COVID-19 [RCV004598576] Chr8:99835218..99835219 [GRCh38]
Chr8:100847446..100847447 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8361+13G>T single nucleotide variant VPS13B-related disorder [RCV004724483] Chr8:99817816 [GRCh38]
Chr8:100830044 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5783C>A (p.Pro1928His) single nucleotide variant not provided [RCV004762593]   uncertain significance
NM_017890.5(VPS13B):c.4218C>A (p.Asp1406Glu) single nucleotide variant not provided [RCV004762702]   uncertain significance
NM_152564.5(VPS13B):c.4300A>G (p.Lys1434Glu) single nucleotide variant VPS13B-related disorder [RCV004727857] Chr8:99511179 [GRCh38]
Chr8:100523407 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9170C>G (p.Pro3057Arg) single nucleotide variant VPS13B-related disorder [RCV004728085] Chr8:99821469 [GRCh38]
Chr8:100833697 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6062A>T (p.Asp2021Val) single nucleotide variant VPS13B-related disorder [RCV004728592] Chr8:99699540 [GRCh38]
Chr8:100711768 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5711C>T (p.Ala1904Val) single nucleotide variant VPS13B-related disorder [RCV004741803] Chr8:99642301 [GRCh38]
Chr8:100654529 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4875T>G (p.Ser1625Arg) single nucleotide variant VPS13B-related disorder [RCV004741832] Chr8:99556579 [GRCh38]
Chr8:100568807 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8219T>A (p.Leu2740His) single nucleotide variant VPS13B-related disorder [RCV004741906] Chr8:99817661 [GRCh38]
Chr8:100829889 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7941+4T>C single nucleotide variant VPS13B-related disorder [RCV004742034] Chr8:99784480 [GRCh38]
Chr8:100796708 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6728A>G (p.Glu2243Gly) single nucleotide variant VPS13B-related disorder [RCV004742089] Chr8:99720415 [GRCh38]
Chr8:100732643 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2448_2449dup (p.His817fs) microsatellite Cohen syndrome [RCV004797482] Chr8:99192987..99192988 [GRCh38]
Chr8:100205215..100205216 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11459C>G (p.Ala3820Gly) single nucleotide variant VPS13B-related disorder [RCV004728601] Chr8:99870851 [GRCh38]
Chr8:100883079 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1831del (p.Arg611fs) deletion not provided [RCV004792204] Chr8:99143153 [GRCh38]
Chr8:100155381 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8056C>T (p.Leu2686Phe) single nucleotide variant VPS13B-related disorder [RCV004742700] Chr8:99809489 [GRCh38]
Chr8:100821717 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11000G>A (p.Gly3667Asp) single nucleotide variant VPS13B-related disorder [RCV004742748] Chr8:99859436 [GRCh38]
Chr8:100871664 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10255T>A (p.Cys3419Ser) single nucleotide variant VPS13B-related disorder [RCV004742737] Chr8:99853644 [GRCh38]
Chr8:100865872 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2199C>G (p.Cys733Trp) single nucleotide variant VPS13B-related disorder [RCV004742883] Chr8:99156734 [GRCh38]
Chr8:100168962 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5419C>A (p.Leu1807Ile) single nucleotide variant VPS13B-related disorder [RCV004742892] Chr8:99642009 [GRCh38]
Chr8:100654237 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8362-4G>T single nucleotide variant VPS13B-related disorder [RCV004742900] Chr8:99818447 [GRCh38]
Chr8:100830675 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+16618G>A single nucleotide variant VPS13B-related disorder [RCV004743826] Chr8:99209675 [GRCh38]
Chr8:100221903 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1815A>T (p.Glu605Asp) single nucleotide variant VPS13B-related disorder [RCV004744057] Chr8:99143137 [GRCh38]
Chr8:100155365 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9760G>T (p.Val3254Phe) single nucleotide variant VPS13B-related disorder [RCV004744079] Chr8:99835556 [GRCh38]
Chr8:100847784 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3445+3A>G single nucleotide variant VPS13B-related disorder [RCV004744686] Chr8:99442638 [GRCh38]
Chr8:100454866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6170C>A (p.Thr2057Asn) single nucleotide variant VPS13B-related disorder [RCV004744698] Chr8:99699648 [GRCh38]
Chr8:100711876 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11293A>C (p.Lys3765Gln) single nucleotide variant VPS13B-related disorder [RCV004741926] Chr8:99868366 [GRCh38]
Chr8:100880594 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6549T>G (p.Cys2183Trp) single nucleotide variant VPS13B-related disorder [RCV004742071] Chr8:99717265 [GRCh38]
Chr8:100729493 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.201T>C (p.Ile67=) single nucleotide variant VPS13B-related disorder [RCV004742138] Chr8:99038476 [GRCh38]
Chr8:100050704 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4989dup (p.Val1664fs) duplication Cohen syndrome [RCV005105234]|not provided [RCV004810324] Chr8:99575692..99575693 [GRCh38]
Chr8:100587920..100587921 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6865+9C>A single nucleotide variant VPS13B-related disorder [RCV004744735] Chr8:99720561 [GRCh38]
Chr8:100732789 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3006T>A (p.Ser1002Arg) single nucleotide variant VPS13B-related disorder [RCV004744828] Chr8:99391628 [GRCh38]
Chr8:100403856 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2252G>C (p.Gly751Ala) single nucleotide variant VPS13B-related disorder [RCV004744885] Chr8:99170082 [GRCh38]
Chr8:100182310 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11436C>G (p.Arg3812=) single nucleotide variant VPS13B-related disorder [RCV004745098] Chr8:99870828 [GRCh38]
Chr8:100883056 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3854T>C (p.Ile1285Thr) single nucleotide variant VPS13B-related disorder [RCV004745067] Chr8:99481786 [GRCh38]
Chr8:100494014 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1184C>T (p.Thr395Ile) single nucleotide variant not provided [RCV004725884] Chr8:99121423 [GRCh38]
Chr8:100133651 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7676T>A (p.Val2559Glu) single nucleotide variant VPS13B-related disorder [RCV004742793] Chr8:99778928 [GRCh38]
Chr8:100791156 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.100471427T>G single nucleotide variant VPS13B-related disorder [RCV004742810] Chr8:100471427 [GRCh38]
Chr8:101483655 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10610C>T (p.Ser3537Phe) single nucleotide variant VPS13B-related disorder [RCV004744132] Chr8:99853999 [GRCh38]
Chr8:100866227 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4225-3C>A single nucleotide variant not provided [RCV004772457] Chr8:99511101 [GRCh38]
Chr8:100523329 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1957T>A (p.Ser653Thr) single nucleotide variant Cohen syndrome [RCV005105235]|not provided [RCV004810492] Chr8:99147954 [GRCh38]
Chr8:100160182 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6159T>C (p.His2053=) single nucleotide variant VPS13B-related disorder [RCV004744770] Chr8:99699637 [GRCh38]
Chr8:100711865 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10050C>T (p.Thr3350=) single nucleotide variant VPS13B-related disorder [RCV004744935] Chr8:99848883 [GRCh38]
Chr8:100861111 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6278T>C (p.Ile2093Thr) single nucleotide variant VPS13B-related disorder [RCV004745020] Chr8:99699756 [GRCh38]
Chr8:100711984 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11392+9G>A single nucleotide variant VPS13B-related disorder [RCV004745008] Chr8:99868474 [GRCh38]
Chr8:100880702 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9101G>C (p.Gly3034Ala) single nucleotide variant VPS13B-related disorder [RCV004745130] Chr8:99821400 [GRCh38]
Chr8:100833628 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11517C>A (p.Gly3839=) single nucleotide variant VPS13B-related disorder [RCV004726235] Chr8:99871469 [GRCh38]
Chr8:100883697 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2987A>C (p.Asp996Ala) single nucleotide variant VPS13B-related disorder [RCV004726494] Chr8:99391609 [GRCh38]
Chr8:100403837 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1139C>A (p.Ala380Glu) single nucleotide variant VPS13B-related disorder [RCV004724282] Chr8:99121378 [GRCh38]
Chr8:100133606 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6455G>T (p.Gly2152Val) single nucleotide variant VPS13B-related disorder [RCV004726271] Chr8:99717171 [GRCh38]
Chr8:100729399 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5966T>A (p.Val1989Glu) single nucleotide variant VPS13B-related disorder [RCV004741840] Chr8:99661411 [GRCh38]
Chr8:100673639 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11013G>A (p.Gly3671=) single nucleotide variant VPS13B-related disorder [RCV004741979] Chr8:99859449 [GRCh38]
Chr8:100871677 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6953A>C (p.Glu2318Ala) single nucleotide variant VPS13B-related disorder [RCV004741984] Chr8:99720950 [GRCh38]
Chr8:100733178 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6816A>G (p.Gln2272=) single nucleotide variant VPS13B-related disorder [RCV004741988] Chr8:99720503 [GRCh38]
Chr8:100732731 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7978C>T (p.Arg2660Cys) single nucleotide variant VPS13B-related disorder [RCV004742776] Chr8:99809411 [GRCh38]
Chr8:100821639 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1968A>T (p.Glu656Asp) single nucleotide variant VPS13B-related disorder [RCV004742862] Chr8:99147965 [GRCh38]
Chr8:100160193 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9571G>A (p.Ala3191Thr) single nucleotide variant VPS13B-related disorder [RCV004742834] Chr8:99832609 [GRCh38]
Chr8:100844837 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2039C>G (p.Thr680Arg) single nucleotide variant VPS13B-related disorder [RCV004743058] Chr8:99156574 [GRCh38]
Chr8:100168802 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+16531G>C single nucleotide variant VPS13B-related disorder [RCV004743778] Chr8:99209588 [GRCh38]
Chr8:100221816 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1505G>A (p.Arg502Gln) single nucleotide variant VPS13B-related disorder [RCV004743841] Chr8:99135675 [GRCh38]
Chr8:100147903 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7364G>C (p.Cys2455Ser) single nucleotide variant VPS13B-related disorder [RCV004743978] Chr8:99776891 [GRCh38]
Chr8:100789119 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11147G>A (p.Arg3716Gln) single nucleotide variant VPS13B-related disorder [RCV004743979] Chr8:99861878 [GRCh38]
Chr8:100874106 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del deletion Cohen syndrome [RCV004766527] Chr8:100587885..100789185 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5590C>A (p.Gln1864Lys) single nucleotide variant VPS13B-related disorder [RCV004729802] Chr8:99642180 [GRCh38]
Chr8:100654408 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4134C>T (p.Phe1378=) single nucleotide variant VPS13B-related disorder [RCV004727892] Chr8:99502927 [GRCh38]
Chr8:100515155 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.100471415G>C single nucleotide variant VPS13B-related disorder [RCV004744652] Chr8:100471415 [GRCh38]
Chr8:101483643 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5603C>T (p.Ser1868Phe) single nucleotide variant VPS13B-related disorder [RCV004744913] Chr8:99642193 [GRCh38]
Chr8:100654421 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7726C>T (p.Leu2576Phe) single nucleotide variant VPS13B-related disorder [RCV004745059] Chr8:99778978 [GRCh38]
Chr8:100791206 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6593G>A (p.Gly2198Glu) single nucleotide variant VPS13B-related disorder [RCV004745110] Chr8:99717309 [GRCh38]
Chr8:100729537 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.4(VPS13B):c.4746delG deletion VPS13B-related disorder [RCV004741836] Chr8:99556449 [GRCh38]
Chr8:100568677 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9459C>G (p.Ser3153=) single nucleotide variant not provided [RCV004811104] Chr8:99832497 [GRCh38]
Chr8:100844725 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10843G>A (p.Ala3615Thr) single nucleotide variant VPS13B-related disorder [RCV004741894] Chr8:99854232 [GRCh38]
Chr8:100866460 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2282C>G (p.Pro761Arg) single nucleotide variant VPS13B-related disorder [RCV004742818] Chr8:99170112 [GRCh38]
Chr8:100182340 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.238G>C (p.Val80Leu) single nucleotide variant VPS13B-related disorder [RCV004727886] Chr8:99038513 [GRCh38]
Chr8:100050741 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7090G>C (p.Val2364Leu) single nucleotide variant VPS13B-related disorder [RCV004728074] Chr8:99766813 [GRCh38]
Chr8:100779041 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.11:g.100471430G>A single nucleotide variant VPS13B-related disorder [RCV004744102] Chr8:100471430 [GRCh38]
Chr8:101483658 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2720C>T (p.Thr907Ile) single nucleotide variant VPS13B-related disorder [RCV004744791] Chr8:99275150 [GRCh38]
Chr8:100287378 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10884T>C (p.Ser3628=) single nucleotide variant VPS13B-related disorder [RCV004744835] Chr8:99859320 [GRCh38]
Chr8:100871548 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.100471160T>C single nucleotide variant VPS13B-related disorder [RCV004744902] Chr8:100471160 [GRCh38]
Chr8:101483388 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1631T>C (p.Met544Thr) single nucleotide variant VPS13B-related disorder [RCV004744991] Chr8:99136732 [GRCh38]
Chr8:100148960 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6535C>G (p.Leu2179Val) single nucleotide variant not provided [RCV004793133] Chr8:99717251 [GRCh38]
Chr8:100729479 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3054C>A (p.Ser1018Arg) single nucleotide variant VPS13B-related disorder [RCV004729775] Chr8:99391676 [GRCh38]
Chr8:100403904 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4123A>G (p.Ile1375Val) single nucleotide variant VPS13B-related disorder [RCV004729788] Chr8:99502916 [GRCh38]
Chr8:100515144 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9477C>A (p.Ile3159=) single nucleotide variant VPS13B-related disorder [RCV004726420] Chr8:99832515 [GRCh38]
Chr8:100844743 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6177C>T (p.Ala2059=) single nucleotide variant VPS13B-related disorder [RCV004730029] Chr8:99699655 [GRCh38]
Chr8:100711883 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-1G>C single nucleotide variant Congenital long QT syndrome [RCV004734002] Chr8:99431536 [GRCh38]
Chr8:100443764 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3397C>A (p.Pro1133Thr) single nucleotide variant not specified [RCV004766826] Chr8:99442587 [GRCh38]
Chr8:100454815 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4429G>A (p.Val1477Ile) single nucleotide variant VPS13B-related disorder [RCV004730140] Chr8:99511308 [GRCh38]
Chr8:100523536 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9173G>A (p.Gly3058Glu) single nucleotide variant not provided [RCV004762552]   uncertain significance
NM_152564.5(VPS13B):c.11886C>T (p.Pro3962=) single nucleotide variant VPS13B-related disorder [RCV004728579] Chr8:99875558 [GRCh38]
Chr8:100887786 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10524G>A (p.Val3508=) single nucleotide variant VPS13B-related disorder [RCV004741857] Chr8:99853913 [GRCh38]
Chr8:100866141 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5560G>C (p.Glu1854Gln) single nucleotide variant VPS13B-related disorder [RCV004741985] Chr8:99642150 [GRCh38]
Chr8:100654378 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7830_7831insGAGCCATT (p.Asn2611fs) insertion VPS13B-related disorder [RCV004741958] Chr8:99784364..99784365 [GRCh38]
Chr8:100796592..100796593 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6275A>G (p.Lys2092Arg) single nucleotide variant VPS13B-related disorder [RCV004742752] Chr8:99699753 [GRCh38]
Chr8:100711981 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4950-7C>G single nucleotide variant VPS13B-related disorder [RCV004742789] Chr8:99575651 [GRCh38]
Chr8:100587879 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7433C>T (p.Ala2478Val) single nucleotide variant VPS13B-related disorder [RCV004742804] Chr8:99778685 [GRCh38]
Chr8:100790913 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2516-2A>C single nucleotide variant VPS13B-related disorder [RCV004742787] Chr8:99274196 [GRCh38]
Chr8:100286424 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11026G>C (p.Val3676Leu) single nucleotide variant VPS13B-related disorder [RCV004742809] Chr8:99859462 [GRCh38]
Chr8:100871690 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8795A>G (p.Asn2932Ser) single nucleotide variant VPS13B-related disorder [RCV004742944] Chr8:99819923 [GRCh38]
Chr8:100832151 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5457T>C (p.Ser1819=) single nucleotide variant VPS13B-related disorder [RCV004743823] Chr8:99642047 [GRCh38]
Chr8:100654275 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10993G>A (p.Val3665Met) single nucleotide variant VPS13B-related disorder [RCV004743844] Chr8:99859429 [GRCh38]
Chr8:100871657 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2334-6G>C single nucleotide variant VPS13B-related disorder [RCV004730251] Chr8:99192870 [GRCh38]
Chr8:100205098 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9331-4_9331-2dup duplication VPS13B-related disorder [RCV004743889] Chr8:99832364..99832365 [GRCh38]
Chr8:100844592..100844593 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11740G>A (p.Val3914Met) single nucleotide variant VPS13B-related disorder [RCV004744008] Chr8:99871692 [GRCh38]
Chr8:100883920 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8444T>C (p.Met2815Thr) single nucleotide variant VPS13B-related disorder [RCV004744776] Chr8:99818533 [GRCh38]
Chr8:100830761 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4745+8del deletion VPS13B-related disorder [RCV004744801] Chr8:99521016 [GRCh38]
Chr8:100533244 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3680A>G (p.Tyr1227Cys) single nucleotide variant VPS13B-related disorder [RCV004744966] Chr8:99481612 [GRCh38]
Chr8:100493840 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_017890.5(VPS13B):c.4200C>A (p.Val1400=) single nucleotide variant VPS13B-related disorder [RCV004745070] Chr8:99507812 [GRCh38]
Chr8:100520040 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter) single nucleotide variant Cohen syndrome [RCV004766787] Chr8:99111190 [GRCh38]
Chr8:100123418 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2209-5T>C single nucleotide variant VPS13B-related disorder [RCV004726241] Chr8:99170034 [GRCh38]
Chr8:100182262 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5658A>T (p.Lys1886Asn) single nucleotide variant VPS13B-related disorder [RCV004724366] Chr8:99642248 [GRCh38]
Chr8:100654476 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10431T>C (p.Phe3477=) single nucleotide variant VPS13B-related disorder [RCV004741866] Chr8:99853820 [GRCh38]
Chr8:100866048 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4949+9T>C single nucleotide variant VPS13B-related disorder [RCV004741830] Chr8:99556662 [GRCh38]
Chr8:100568890 [GRCh37]
Chr8:8q22.2		 likely benign
NC_000008.11:g.100471153G>A single nucleotide variant VPS13B-related disorder [RCV004741868] Chr8:100471153 [GRCh38]
Chr8:101483381 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3169A>G (p.Ile1057Val) single nucleotide variant VPS13B-related disorder [RCV004742005] Chr8:99431623 [GRCh38]
Chr8:100443851 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5507C>T (p.Ser1836Leu) single nucleotide variant VPS13B-related disorder [RCV004742047] Chr8:99642097 [GRCh38]
Chr8:100654325 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5214T>C (p.Ala1738=) single nucleotide variant VPS13B-related disorder [RCV004742109] Chr8:99577627 [GRCh38]
Chr8:100589855 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6980T>A (p.Ile2327Lys) single nucleotide variant VPS13B-related disorder [RCV004742707] Chr8:99720977 [GRCh38]
Chr8:100733205 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+16589A>T single nucleotide variant VPS13B-related disorder [RCV004742781] Chr8:99209646 [GRCh38]
Chr8:100221874 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+16531G>A single nucleotide variant VPS13B-related disorder [RCV004743727] Chr8:99209588 [GRCh38]
Chr8:100221816 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4612G>A (p.Glu1538Lys) single nucleotide variant VPS13B-related disorder [RCV004743848] Chr8:99511491 [GRCh38]
Chr8:100523719 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1719C>T (p.Ser573=) single nucleotide variant VPS13B-related disorder [RCV004744070] Chr8:99143041 [GRCh38]
Chr8:100155269 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6882T>G (p.Pro2294=) single nucleotide variant VPS13B-related disorder [RCV004744089] Chr8:99720879 [GRCh38]
Chr8:100733107 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6710T>C (p.Leu2237Pro) single nucleotide variant not provided [RCV004775239] Chr8:99720397 [GRCh38]
Chr8:100732625 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2368A>G (p.Ile790Val) single nucleotide variant VPS13B-related disorder [RCV004744750] Chr8:99192910 [GRCh38]
Chr8:100205138 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11176C>T (p.Leu3726Phe) single nucleotide variant VPS13B-related disorder [RCV004744754] Chr8:99861907 [GRCh38]
Chr8:100874135 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6572C>T (p.Ala2191Val) single nucleotide variant VPS13B-related disorder [RCV004744785] Chr8:99717288 [GRCh38]
Chr8:100729516 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11917G>A (p.Asp3973Asn) single nucleotide variant VPS13B-related disorder [RCV004744870] Chr8:99875589 [GRCh38]
Chr8:100887817 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3344T>G (p.Val1115Gly) single nucleotide variant VPS13B-related disorder [RCV004745001] Chr8:99442534 [GRCh38]
Chr8:100454762 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3730G>A (p.Gly1244Ser) single nucleotide variant VPS13B-related disorder [RCV004745115] Chr8:99481662 [GRCh38]
Chr8:100493890 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3871-9T>C single nucleotide variant VPS13B-related disorder [RCV004727860] Chr8:99501678 [GRCh38]
Chr8:100513906 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11492T>G (p.Val3831Gly) single nucleotide variant VPS13B-related disorder [RCV004728326] Chr8:99870884 [GRCh38]
Chr8:100883112 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4634-8T>C single nucleotide variant VPS13B-related disorder [RCV004728566] Chr8:99520891 [GRCh38]
Chr8:100533119 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6160A>G (p.Ser2054Gly) single nucleotide variant VPS13B-related disorder [RCV004728572] Chr8:99699638 [GRCh38]
Chr8:100711866 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.916G>A (p.Asp306Asn) single nucleotide variant VPS13B-related disorder [RCV004726472] Chr8:99115853 [GRCh38]
Chr8:100128081 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.937+5T>C single nucleotide variant not specified [RCV004701173] Chr8:99115879 [GRCh38]
Chr8:100128107 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9042C>A (p.His3014Gln) single nucleotide variant VPS13B-related disorder [RCV004724679] Chr8:99821341 [GRCh38]
Chr8:100833569 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.25A>G (p.Ile9Val) single nucleotide variant VPS13B-related disorder [RCV004741858] Chr8:99013813 [GRCh38]
Chr8:100026041 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4224+717T>A single nucleotide variant VPS13B-related disorder [RCV004741874] Chr8:99507920 [GRCh38]
Chr8:100520148 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4520A>T (p.Gln1507Leu) single nucleotide variant VPS13B-related disorder [RCV004741886] Chr8:99511399 [GRCh38]
Chr8:100523627 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9643C>G (p.Leu3215Val) single nucleotide variant VPS13B-related disorder [RCV004741953] Chr8:99835225 [GRCh38]
Chr8:100847453 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8445+3G>A single nucleotide variant VPS13B-related disorder [RCV004741912] Chr8:99818537 [GRCh38]
Chr8:100830765 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6942G>A (p.Trp2314Ter) single nucleotide variant VPS13B-related disorder [RCV004742003] Chr8:99720939 [GRCh38]
Chr8:100733167 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2580C>T (p.Tyr860=) single nucleotide variant VPS13B-related disorder [RCV004741955] Chr8:99274262 [GRCh38]
Chr8:100286490 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5211G>A (p.Lys1737=) single nucleotide variant VPS13B-related disorder [RCV004742104] Chr8:99577624 [GRCh38]
Chr8:100589852 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9625C>G (p.Leu3209Val) single nucleotide variant VPS13B-related disorder [RCV004727961] Chr8:99835207 [GRCh38]
Chr8:100847435 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.529G>T (p.Glu177Ter) single nucleotide variant VPS13B-related disorder [RCV004727870] Chr8:99103069 [GRCh38]
Chr8:100115297 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11510C>T (p.Ser3837Phe) single nucleotide variant VPS13B-related disorder [RCV004742703] Chr8:99871462 [GRCh38]
Chr8:100883690 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11725A>G (p.Arg3909Gly) single nucleotide variant VPS13B-related disorder [RCV004742739] Chr8:99871677 [GRCh38]
Chr8:100883905 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4764A>T (p.Gly1588=) single nucleotide variant VPS13B-related disorder [RCV004742785] Chr8:99556468 [GRCh38]
Chr8:100568696 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11150A>G (p.Gln3717Arg) single nucleotide variant VPS13B-related disorder [RCV004742730] Chr8:99861881 [GRCh38]
Chr8:100874109 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2810A>G (p.Tyr937Cys) single nucleotide variant VPS13B-related disorder [RCV004742849] Chr8:99275240 [GRCh38]
Chr8:100287468 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10819G>A (p.Val3607Met) single nucleotide variant VPS13B-related disorder [RCV004742861] Chr8:99854208 [GRCh38]
Chr8:100866436 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4825A>G (p.Ile1609Val) single nucleotide variant VPS13B-related disorder [RCV004742952] Chr8:99556529 [GRCh38]
Chr8:100568757 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+16550A>G single nucleotide variant VPS13B-related disorder [RCV004743084] Chr8:99209607 [GRCh38]
Chr8:100221835 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3549C>T (p.Ser1183=) single nucleotide variant Cohen syndrome [RCV005103745]|VPS13B-related disorder [RCV004743105] Chr8:99467517 [GRCh38]
Chr8:100479745 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4128G>A (p.Glu1376=) single nucleotide variant VPS13B-related disorder [RCV004743115] Chr8:99502921 [GRCh38]
Chr8:100515149 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6432C>T (p.Val2144=) single nucleotide variant VPS13B-related disorder [RCV004728004] Chr8:99699910 [GRCh38]
Chr8:100712138 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1845T>A (p.Asp615Glu) single nucleotide variant VPS13B-related disorder [RCV004728046] Chr8:99147842 [GRCh38]
Chr8:100160070 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.762+8T>A single nucleotide variant VPS13B-related disorder [RCV004728064] Chr8:99111287 [GRCh38]
Chr8:100123515 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2515+16523_2515+16525dup duplication VPS13B-related disorder [RCV004743721] Chr8:99209566..99209567 [GRCh38]
Chr8:100221794..100221795 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9639A>G (p.Glu3213=) single nucleotide variant VPS13B-related disorder [RCV004743743] Chr8:99835221 [GRCh38]
Chr8:100847449 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3638C>T (p.Ser1213Leu) single nucleotide variant VPS13B-related disorder [RCV004743787] Chr8:99467606 [GRCh38]
Chr8:100479834 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.279G>A (p.Lys93=) single nucleotide variant VPS13B-related disorder [RCV004743883] Chr8:99038554 [GRCh38]
Chr8:100050782 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2604T>C (p.Cys868=) single nucleotide variant VPS13B-related disorder [RCV004743926] Chr8:99274286 [GRCh38]
Chr8:100286514 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.966G>A (p.Met322Ile) single nucleotide variant VPS13B-related disorder [RCV004743935] Chr8:99121205 [GRCh38]
Chr8:100133433 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11226T>C (p.Ala3742=) single nucleotide variant VPS13B-related disorder [RCV004743895] Chr8:99868299 [GRCh38]
Chr8:100880527 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10221G>A (p.Gly3407=) single nucleotide variant VPS13B-related disorder [RCV004743977] Chr8:99853610 [GRCh38]
Chr8:100865838 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11958G>C (p.Met3986Ile) single nucleotide variant VPS13B-related disorder [RCV004743964] Chr8:99875630 [GRCh38]
Chr8:100887858 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11705_11706del (p.Thr3902fs) microsatellite VPS13B-related disorder [RCV004728341] Chr8:99871655..99871656 [GRCh38]
Chr8:100883883..100883884 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1839A>G (p.Lys613=) single nucleotide variant VPS13B-related disorder [RCV004728294] Chr8:99143161 [GRCh38]
Chr8:100155389 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7699G>A (p.Val2567Met) single nucleotide variant VPS13B-related disorder [RCV004744053] Chr8:99778951 [GRCh38]
Chr8:100791179 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11361A>C (p.Gly3787=) single nucleotide variant Cohen syndrome [RCV005103821]|VPS13B-related disorder [RCV004744100] Chr8:99868434 [GRCh38]
Chr8:100880662 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4249C>T (p.Pro1417Ser) single nucleotide variant VPS13B-related disorder [RCV004744139] Chr8:99507861 [GRCh38]
Chr8:100520089 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6885G>C (p.Gly2295=) single nucleotide variant VPS13B-related disorder [RCV004744677] Chr8:99720882 [GRCh38]
Chr8:100733110 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7770T>C (p.Ala2590=) single nucleotide variant VPS13B-related disorder [RCV004744659] Chr8:99779022 [GRCh38]
Chr8:100791250 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7660G>A (p.Val2554Ile) single nucleotide variant VPS13B-related disorder [RCV004744855] Chr8:99778912 [GRCh38]
Chr8:100791140 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2403A>G (p.Thr801=) single nucleotide variant VPS13B-related disorder [RCV004744888] Chr8:99192945 [GRCh38]
Chr8:100205173 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7780-25G>A single nucleotide variant VPS13B-related disorder [RCV004728399] Chr8:99784290 [GRCh38]
Chr8:100796518 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6551G>T (p.Cys2184Phe) single nucleotide variant VPS13B-related disorder [RCV004728603] Chr8:99717267 [GRCh38]
Chr8:100729495 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)del deletion Cohen syndrome [RCV004766966] Chr8:100587885..100791260 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2534C>T (p.Pro845Leu) single nucleotide variant VPS13B-related disorder [RCV004745000] Chr8:99274216 [GRCh38]
Chr8:100286444 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3404A>G (p.Gln1135Arg) single nucleotide variant VPS13B-related disorder [RCV004745012] Chr8:99442594 [GRCh38]
Chr8:100454822 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9228A>G (p.Gln3076=) single nucleotide variant VPS13B-related disorder [RCV004745127] Chr8:99823876 [GRCh38]
Chr8:100836104 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9262A>G (p.Asn3088Asp) single nucleotide variant VPS13B-related disorder [RCV004726430] Chr8:99823910 [GRCh38]
Chr8:100836138 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7145A>G (p.Gln2382Arg) single nucleotide variant Inborn genetic diseases [RCV004968607]|VPS13B-related disorder [RCV004729664] Chr8:99766868 [GRCh38]
Chr8:100779096 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7909del (p.Gln2637fs) deletion VPS13B-related disorder [RCV004729780] Chr8:99784443 [GRCh38]
Chr8:100796671 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5883G>A (p.Gly1961=) single nucleotide variant VPS13B-related disorder [RCV004730047] Chr8:99642473 [GRCh38]
Chr8:100654701 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6382A>C (p.Lys2128Gln) single nucleotide variant VPS13B-related disorder [RCV004730101] Chr8:99699860 [GRCh38]
Chr8:100712088 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5485A>G (p.Met1829Val) single nucleotide variant VPS13B-related disorder [RCV004730157] Chr8:99642075 [GRCh38]
Chr8:100654303 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11191T>A (p.Ser3731Thr) single nucleotide variant VPS13B-related disorder [RCV004730307] Chr8:99861922 [GRCh38]
Chr8:100874150 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1297del (p.Val433fs) deletion Cohen syndrome [RCV005035967] Chr8:99134722 [GRCh38]
Chr8:100146950 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.2690del (p.Gly897fs) deletion Cohen syndrome [RCV005035973] Chr8:99275118 [GRCh38]
Chr8:100287346 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2759T>A (p.Leu920Ter) single nucleotide variant Cohen syndrome [RCV005035974] Chr8:99275189 [GRCh38]
Chr8:100287417 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4240C>G (p.Leu1414Val) single nucleotide variant not provided [RCV005052633] Chr8:99511119 [GRCh38]
Chr8:100523347 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9226C>T (p.Gln3076Ter) single nucleotide variant Cohen syndrome [RCV005035988] Chr8:99823874 [GRCh38]
Chr8:100836102 [GRCh37]
Chr8:8q22.2		 pathogenic|likely pathogenic
NM_152564.5(VPS13B):c.9791C>A (p.Ser3264Ter) single nucleotide variant Cohen syndrome [RCV005035991] Chr8:99835587 [GRCh38]
Chr8:100847815 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4096dup (p.Asp1366fs) duplication Cohen syndrome [RCV005035978] Chr8:99502887..99502888 [GRCh38]
Chr8:100515115..100515116 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8622-1G>A single nucleotide variant Cohen syndrome [RCV005035986] Chr8:99819411 [GRCh38]
Chr8:100831639 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9544A>T (p.Arg3182Ter) single nucleotide variant Cohen syndrome [RCV005035989] Chr8:99832582 [GRCh38]
Chr8:100844810 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11837del (p.Cys3946fs) deletion Cohen syndrome [RCV005035993] Chr8:99875509 [GRCh38]
Chr8:100887737 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8575C>T (p.Gln2859Ter) single nucleotide variant Cohen syndrome [RCV005035985] Chr8:99818842 [GRCh38]
Chr8:100831070 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.10035dup (p.Gly3346fs) duplication Cohen syndrome [RCV005035992] Chr8:99848867..99848868 [GRCh38]
Chr8:100861095..100861096 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.478_481del (p.Leu160fs) deletion Cohen syndrome [RCV005035965] Chr8:99103017..99103020 [GRCh38]
Chr8:100115245..100115248 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.3975G>A (p.Trp1325Ter) single nucleotide variant Cohen syndrome [RCV005035977] Chr8:99501791 [GRCh38]
Chr8:100514019 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.428del (p.Leu143fs) deletion Cohen syndrome [RCV005035964] Chr8:99102968 [GRCh38]
Chr8:100115196 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.998T>A (p.Leu333Ter) single nucleotide variant Cohen syndrome [RCV005035966] Chr8:99121237 [GRCh38]
Chr8:100133465 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1703_1710delinsAAGTGAA (p.Thr568fs) indel Cohen syndrome [RCV005035968] Chr8:99143025..99143032 [GRCh38]
Chr8:100155253..100155260 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1727G>T (p.Ser576Ile) single nucleotide variant Cohen syndrome [RCV005035969] Chr8:99143049 [GRCh38]
Chr8:100155277 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2014-1G>T single nucleotide variant Cohen syndrome [RCV005035971] Chr8:99156548 [GRCh38]
Chr8:100168776 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2356dup (p.Ile786fs) duplication Cohen syndrome [RCV005035972] Chr8:99192897..99192898 [GRCh38]
Chr8:100205125..100205126 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1900G>T (p.Glu634Ter) single nucleotide variant Cohen syndrome [RCV005035970] Chr8:99147897 [GRCh38]
Chr8:100160125 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2883T>A (p.Tyr961Ter) single nucleotide variant Cohen syndrome [RCV005035975] Chr8:99384266 [GRCh38]
Chr8:100396494 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2934+2T>C single nucleotide variant Cohen syndrome [RCV005035976] Chr8:99384319 [GRCh38]
Chr8:100396547 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6839del (p.Gly2280fs) deletion Cohen syndrome [RCV005035983] Chr8:99720525 [GRCh38]
Chr8:100732753 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8716C>T (p.Gln2906Ter) single nucleotide variant Cohen syndrome [RCV005035987] Chr8:99819506 [GRCh38]
Chr8:100831734 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.9720G>A (p.Met3240Ile) single nucleotide variant Cohen syndrome [RCV005035990] Chr8:99835302 [GRCh38]
Chr8:100847530 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5842C>T (p.Gln1948Ter) single nucleotide variant Cohen syndrome [RCV005048117] Chr8:99642432 [GRCh38]
Chr8:100654660 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7185dup (p.Val2396fs) duplication Cohen syndrome [RCV005048122] Chr8:99766907..99766908 [GRCh38]
Chr8:100779135..100779136 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4108A>T (p.Lys1370Ter) single nucleotide variant Cohen syndrome [RCV005035979] Chr8:99502901 [GRCh38]
Chr8:100515129 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.4633+1G>C single nucleotide variant Cohen syndrome [RCV005035980] Chr8:99511513 [GRCh38]
Chr8:100523741 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5402C>A (p.Ser1801Ter) single nucleotide variant Cohen syndrome [RCV005035981] Chr8:99641992 [GRCh38]
Chr8:100654220 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7195_7196dup (p.Asp2399fs) duplication Cohen syndrome [RCV005035984] Chr8:99766916..99766917 [GRCh38]
Chr8:100779144..100779145 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1018_1045del (p.Glu340fs) deletion Cohen syndrome [RCV005048112] Chr8:99121256..99121283 [GRCh38]
Chr8:100133484..100133511 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.11786del (p.Asn3929fs) deletion Cohen syndrome [RCV005048123] Chr8:99875457 [GRCh38]
Chr8:100887685 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5179G>A (p.Ala1727Thr) single nucleotide variant Inborn genetic diseases [RCV004972185] Chr8:99577592 [GRCh38]
Chr8:100589820 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9973T>G (p.Tyr3325Asp) single nucleotide variant Inborn genetic diseases [RCV004972188] Chr8:99848806 [GRCh38]
Chr8:100861034 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2815C>T (p.His939Tyr) single nucleotide variant Inborn genetic diseases [RCV004972198] Chr8:99275245 [GRCh38]
Chr8:100287473 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1571del (p.Tyr524fs) deletion Cohen syndrome [RCV005048115] Chr8:99136672 [GRCh38]
Chr8:100148900 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6049del (p.Asp2017fs) deletion Cohen syndrome [RCV005048119] Chr8:99699526 [GRCh38]
Chr8:100711754 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7154del (p.Asp2385fs) deletion Cohen syndrome [RCV005048121] Chr8:99766877 [GRCh38]
Chr8:100779105 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1315G>T (p.Gly439Ter) single nucleotide variant Cohen syndrome [RCV005048113] Chr8:99135027 [GRCh38]
Chr8:100147255 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.1490C>A (p.Ser497Ter) single nucleotide variant Cohen syndrome [RCV005048114] Chr8:99135660 [GRCh38]
Chr8:100147888 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.3587dup (p.Pro1197fs) duplication Cohen syndrome [RCV005048116] Chr8:99467552..99467553 [GRCh38]
Chr8:100479780..100479781 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.6866-1G>A single nucleotide variant Cohen syndrome [RCV005048120] Chr8:99720862 [GRCh38]
Chr8:100733090 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.5908+1G>A single nucleotide variant Cohen syndrome [RCV005048118] Chr8:99642499 [GRCh38]
Chr8:100654727 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.2168A>G (p.Asp723Gly) single nucleotide variant Inborn genetic diseases [RCV004972190] Chr8:99156703 [GRCh38]
Chr8:100168931 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6118C>G (p.Leu2040Val) single nucleotide variant Inborn genetic diseases [RCV004972193] Chr8:99699596 [GRCh38]
Chr8:100711824 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9515C>T (p.Ser3172Leu) single nucleotide variant Inborn genetic diseases [RCV004972196] Chr8:99832553 [GRCh38]
Chr8:100844781 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3788C>T (p.Ser1263Phe) single nucleotide variant Inborn genetic diseases [RCV004972189] Chr8:99481720 [GRCh38]
Chr8:100493948 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1367G>A (p.Cys456Tyr) single nucleotide variant Inborn genetic diseases [RCV004972192] Chr8:99135079 [GRCh38]
Chr8:100147307 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.725A>G (p.Tyr242Cys) single nucleotide variant Inborn genetic diseases [RCV004972195] Chr8:99111242 [GRCh38]
Chr8:100123470 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3672G>C (p.Gln1224His) single nucleotide variant Inborn genetic diseases [RCV004972197] Chr8:99481604 [GRCh38]
Chr8:100493832 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5875C>A (p.Leu1959Ile) single nucleotide variant Inborn genetic diseases [RCV004972199] Chr8:99642465 [GRCh38]
Chr8:100654693 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4949+1G>A single nucleotide variant not provided [RCV005001610] Chr8:99556654 [GRCh38]
Chr8:100568882 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7664C>T (p.Ser2555Phe) single nucleotide variant Inborn genetic diseases [RCV004972187] Chr8:99778916 [GRCh38]
Chr8:100791144 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6518A>C (p.Lys2173Thr) single nucleotide variant Inborn genetic diseases [RCV004972191] Chr8:99717234 [GRCh38]
Chr8:100729462 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8912A>C (p.Lys2971Thr) single nucleotide variant Inborn genetic diseases [RCV004972194] Chr8:99820040 [GRCh38]
Chr8:100832268 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2779T>A (p.Phe927Ile) single nucleotide variant Cohen syndrome [RCV005105477] Chr8:99275209 [GRCh38]
Chr8:100287437 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8347A>G (p.Ser2783Gly) single nucleotide variant Cohen syndrome [RCV005176174] Chr8:99817789 [GRCh38]
Chr8:100830017 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10868-17C>T single nucleotide variant Cohen syndrome [RCV005172977] Chr8:99859287 [GRCh38]
Chr8:100871515 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11610C>G (p.Leu3870=) single nucleotide variant Cohen syndrome [RCV005196679] Chr8:99871562 [GRCh38]
Chr8:100883790 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5798T>C (p.Ile1933Thr) single nucleotide variant Cohen syndrome [RCV005087997] Chr8:99642388 [GRCh38]
Chr8:100654616 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8241T>G (p.Pro2747=) single nucleotide variant Cohen syndrome [RCV005196323] Chr8:99817683 [GRCh38]
Chr8:100829911 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6657+16C>T single nucleotide variant Cohen syndrome [RCV005085761] Chr8:99717389 [GRCh38]
Chr8:100729617 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.581-16T>C single nucleotide variant Cohen syndrome [RCV005175989] Chr8:99111082 [GRCh38]
Chr8:100123310 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4230A>G (p.Arg1410=) single nucleotide variant Cohen syndrome [RCV005174078] Chr8:99507842 [GRCh38]
Chr8:100520070 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10039C>A (p.Pro3347Thr) single nucleotide variant Cohen syndrome [RCV005064346] Chr8:99848872 [GRCh38]
Chr8:100861100 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.412+14G>A single nucleotide variant Cohen syndrome [RCV005145532] Chr8:99096446 [GRCh38]
Chr8:100108674 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2679C>T (p.Pro893=) single nucleotide variant Cohen syndrome [RCV005106024] Chr8:99275109 [GRCh38]
Chr8:100287337 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7004_7005del (p.Thr2335fs) microsatellite Cohen syndrome [RCV005196957] Chr8:99720999..99721000 [GRCh38]
Chr8:100733227..100733228 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4341_4342insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCGAAGA (p.Ser1448delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer) insertion Cohen syndrome [RCV005196506] Chr8:99511204..99511205 [GRCh38]
Chr8:100523432..100523433 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9510C>T (p.Asp3170=) single nucleotide variant Cohen syndrome [RCV005145673] Chr8:99832548 [GRCh38]
Chr8:100844776 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9432C>T (p.Asp3144=) single nucleotide variant Cohen syndrome [RCV005146931] Chr8:99832470 [GRCh38]
Chr8:100844698 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6455-17C>T single nucleotide variant Cohen syndrome [RCV005067501] Chr8:99717154 [GRCh38]
Chr8:100729382 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-11T>A single nucleotide variant Cohen syndrome [RCV005196091] Chr8:99809364 [GRCh38]
Chr8:100821592 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4812del (p.Ile1604fs) deletion Cohen syndrome [RCV005195191] Chr8:99556516 [GRCh38]
Chr8:100568744 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9742+20del deletion Cohen syndrome [RCV005171920] Chr8:99835343 [GRCh38]
Chr8:100847571 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7840C>T (p.Gln2614Ter) single nucleotide variant Cohen syndrome [RCV005065487] Chr8:99784375 [GRCh38]
Chr8:100796603 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1651+1G>T single nucleotide variant Cohen syndrome [RCV005171831] Chr8:99136753 [GRCh38]
Chr8:100148981 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.7578A>G (p.Gln2526=) single nucleotide variant Cohen syndrome [RCV005085659] Chr8:99778830 [GRCh38]
Chr8:100791058 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1643G>A (p.Ser548Asn) single nucleotide variant Cohen syndrome [RCV005172527] Chr8:99136744 [GRCh38]
Chr8:100148972 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9378A>G (p.Gly3126=) single nucleotide variant Cohen syndrome [RCV005174827] Chr8:99832416 [GRCh38]
Chr8:100844644 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11495+11T>G single nucleotide variant Cohen syndrome [RCV005146115] Chr8:99870898 [GRCh38]
Chr8:100883126 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4572C>T (p.Val1524=) single nucleotide variant Cohen syndrome [RCV005088777] Chr8:99511451 [GRCh38]
Chr8:100523679 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+11T>A single nucleotide variant Cohen syndrome [RCV005174887] Chr8:99835335 [GRCh38]
Chr8:100847563 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1937T>C (p.Leu646Pro) single nucleotide variant Cohen syndrome [RCV005172170] Chr8:99147934 [GRCh38]
Chr8:100160162 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1266A>C (p.Glu422Asp) single nucleotide variant Cohen syndrome [RCV005195328] Chr8:99134691 [GRCh38]
Chr8:100146919 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4141G>A (p.Asp1381Asn) single nucleotide variant Cohen syndrome [RCV005195329] Chr8:99502934 [GRCh38]
Chr8:100515162 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11495+5_11495+7dup duplication Cohen syndrome [RCV005065555] Chr8:99870891..99870892 [GRCh38]
Chr8:100883119..100883120 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.603G>A (p.Lys201=) single nucleotide variant Cohen syndrome [RCV005145811] Chr8:99111120 [GRCh38]
Chr8:100123348 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2959G>C (p.Val987Leu) single nucleotide variant Cohen syndrome [RCV005145797] Chr8:99391581 [GRCh38]
Chr8:100403809 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2972G>A (p.Cys991Tyr) single nucleotide variant Cohen syndrome [RCV005066640] Chr8:99391594 [GRCh38]
Chr8:100403822 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11393-4A>G single nucleotide variant Cohen syndrome [RCV005105666] Chr8:99870781 [GRCh38]
Chr8:100883009 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.741C>T (p.Ser247=) single nucleotide variant Cohen syndrome [RCV005105992] Chr8:99111258 [GRCh38]
Chr8:100123486 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11758C>A (p.Arg3920=) single nucleotide variant Cohen syndrome [RCV005144975] Chr8:99875430 [GRCh38]
Chr8:100887658 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10604A>G (p.His3535Arg) single nucleotide variant Cohen syndrome [RCV005146042] Chr8:99853993 [GRCh38]
Chr8:100866221 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1563+11A>G single nucleotide variant Cohen syndrome [RCV005085607] Chr8:99135744 [GRCh38]
Chr8:100147972 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1827T>C (p.Tyr609=) single nucleotide variant Cohen syndrome [RCV005085587] Chr8:99143149 [GRCh38]
Chr8:100155377 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.726T>G (p.Tyr242Ter) single nucleotide variant Cohen syndrome [RCV005201263] Chr8:99111243 [GRCh38]
Chr8:100123471 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10597T>C (p.Ser3533Pro) single nucleotide variant Cohen syndrome [RCV005139216] Chr8:99853986 [GRCh38]
Chr8:100866214 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1651+20A>G single nucleotide variant Cohen syndrome [RCV005114579] Chr8:99136772 [GRCh38]
Chr8:100149000 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8679A>G (p.Gln2893=) single nucleotide variant Cohen syndrome [RCV005207854] Chr8:99819469 [GRCh38]
Chr8:100831697 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7211T>C (p.Val2404Ala) single nucleotide variant Cohen syndrome [RCV005176994] Chr8:99766934 [GRCh38]
Chr8:100779162 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8309C>A (p.Ser2770Ter) single nucleotide variant Cohen syndrome [RCV005135798] Chr8:99817751 [GRCh38]
Chr8:100829979 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8356A>G (p.Ile2786Val) single nucleotide variant Cohen syndrome [RCV005153052] Chr8:99817798 [GRCh38]
Chr8:100830026 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3678C>T (p.Phe1226=) single nucleotide variant Cohen syndrome [RCV005124552] Chr8:99481610 [GRCh38]
Chr8:100493838 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10830G>C (p.Leu3610=) single nucleotide variant Cohen syndrome [RCV005122096] Chr8:99854219 [GRCh38]
Chr8:100866447 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1302+7T>G single nucleotide variant Cohen syndrome [RCV005177445] Chr8:99134734 [GRCh38]
Chr8:100146962 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7657_7672del (p.Met2552_Ala2553insTer) deletion Cohen syndrome [RCV005123416] Chr8:99778905..99778920 [GRCh38]
Chr8:100791133..100791148 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2620G>A (p.Gly874Arg) single nucleotide variant Cohen syndrome [RCV005109841] Chr8:99274302 [GRCh38]
Chr8:100286530 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8621+17T>C single nucleotide variant Cohen syndrome [RCV005199611] Chr8:99818905 [GRCh38]
Chr8:100831133 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9184-17T>C single nucleotide variant Cohen syndrome [RCV005159614] Chr8:99823815 [GRCh38]
Chr8:100836043 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2209-20A>C single nucleotide variant Cohen syndrome [RCV005157672] Chr8:99170019 [GRCh38]
Chr8:100182247 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4024C>A (p.Pro1342Thr) single nucleotide variant Cohen syndrome [RCV005082499] Chr8:99501840 [GRCh38]
Chr8:100514068 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9515C>G (p.Ser3172Ter) single nucleotide variant Cohen syndrome [RCV005127020] Chr8:99832553 [GRCh38]
Chr8:100844781 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1206+20G>C single nucleotide variant Cohen syndrome [RCV005162437] Chr8:99121465 [GRCh38]
Chr8:100133693 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11768_11771dup (p.Glu3925fs) duplication Cohen syndrome [RCV005118000] Chr8:99875438..99875439 [GRCh38]
Chr8:100887666..100887667 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11781G>A (p.Gln3927=) single nucleotide variant Cohen syndrome [RCV005118010] Chr8:99875453 [GRCh38]
Chr8:100887681 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4950-12T>C single nucleotide variant Cohen syndrome [RCV005150684] Chr8:99575646 [GRCh38]
Chr8:100587874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+563C>G single nucleotide variant Cohen syndrome [RCV005206935] Chr8:99507766 [GRCh38]
Chr8:100519994 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11745+13A>C single nucleotide variant Cohen syndrome [RCV005118174] Chr8:99871710 [GRCh38]
Chr8:100883938 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8446-16C>G single nucleotide variant Cohen syndrome [RCV005186999] Chr8:99818697 [GRCh38]
Chr8:100830925 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6377C>T (p.Thr2126Ile) single nucleotide variant Cohen syndrome [RCV005190495] Chr8:99699855 [GRCh38]
Chr8:100712083 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8856T>C (p.Tyr2952=) single nucleotide variant Cohen syndrome [RCV005080807] Chr8:99819984 [GRCh38]
Chr8:100832212 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7453T>G (p.Phe2485Val) single nucleotide variant Cohen syndrome [RCV005140372] Chr8:99778705 [GRCh38]
Chr8:100790933 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5952T>G (p.Val1984=) single nucleotide variant Cohen syndrome [RCV005159950] Chr8:99661397 [GRCh38]
Chr8:100673625 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4082C>G (p.Ser1361Cys) single nucleotide variant Cohen syndrome [RCV005158412] Chr8:99502875 [GRCh38]
Chr8:100515103 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11216-18G>A single nucleotide variant Cohen syndrome [RCV005132062] Chr8:99868271 [GRCh38]
Chr8:100880499 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10158T>C (p.Leu3386=) single nucleotide variant Cohen syndrome [RCV005121313] Chr8:99853547 [GRCh38]
Chr8:100865775 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7059T>G (p.Cys2353Trp) single nucleotide variant Cohen syndrome [RCV005140755] Chr8:99766782 [GRCh38]
Chr8:100779010 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.147+14C>A single nucleotide variant Cohen syndrome [RCV005206021] Chr8:99013949 [GRCh38]
Chr8:100026177 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11728G>A (p.Val3910Met) single nucleotide variant Cohen syndrome [RCV005182829] Chr8:99871680 [GRCh38]
Chr8:100883908 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4522C>T (p.Pro1508Ser) single nucleotide variant Cohen syndrome [RCV005179690] Chr8:99511401 [GRCh38]
Chr8:100523629 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10498G>T (p.Glu3500Ter) single nucleotide variant Cohen syndrome [RCV005153546] Chr8:99853887 [GRCh38]
Chr8:100866115 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2640dup (p.Lys881fs) duplication Cohen syndrome [RCV005131146] Chr8:99274320..99274321 [GRCh38]
Chr8:100286548..100286549 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5076+17G>A single nucleotide variant Cohen syndrome [RCV005120038] Chr8:99575801 [GRCh38]
Chr8:100588029 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4447C>G (p.Leu1483Val) single nucleotide variant Cohen syndrome [RCV005124516] Chr8:99511326 [GRCh38]
Chr8:100523554 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4950-9A>C single nucleotide variant Cohen syndrome [RCV005198599] Chr8:99575649 [GRCh38]
Chr8:100587877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1084G>A (p.Gly362Ser) single nucleotide variant Cohen syndrome [RCV005151760] Chr8:99121323 [GRCh38]
Chr8:100133551 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5817G>A (p.Leu1939=) single nucleotide variant Cohen syndrome [RCV005184310] Chr8:99642407 [GRCh38]
Chr8:100654635 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9497C>A (p.Ala3166Asp) single nucleotide variant Cohen syndrome [RCV005187968] Chr8:99832535 [GRCh38]
Chr8:100844763 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2355T>C (p.Ala785=) single nucleotide variant Cohen syndrome [RCV005070391] Chr8:99192897 [GRCh38]
Chr8:100205125 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5655G>A (p.Gly1885=) single nucleotide variant Cohen syndrome [RCV005118815] Chr8:99642245 [GRCh38]
Chr8:100654473 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7051-7A>T single nucleotide variant Cohen syndrome [RCV005117874] Chr8:99766767 [GRCh38]
Chr8:100778995 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3179T>C (p.Val1060Ala) single nucleotide variant Cohen syndrome [RCV005177022] Chr8:99431633 [GRCh38]
Chr8:100443861 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2743A>T (p.Lys915Ter) single nucleotide variant Cohen syndrome [RCV005143443] Chr8:99275173 [GRCh38]
Chr8:100287401 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.4042+7G>C single nucleotide variant Cohen syndrome [RCV005206421] Chr8:99501865 [GRCh38]
Chr8:100514093 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1854T>C (p.Asp618=) single nucleotide variant Cohen syndrome [RCV005141276] Chr8:99147851 [GRCh38]
Chr8:100160079 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.147+18_147+19insT insertion Cohen syndrome [RCV005168253] Chr8:99013953..99013954 [GRCh38]
Chr8:100026181..100026182 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1605T>A (p.Ala535=) single nucleotide variant Cohen syndrome [RCV005168058] Chr8:99136706 [GRCh38]
Chr8:100148934 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2478G>C (p.Val826=) single nucleotide variant Cohen syndrome [RCV005168095] Chr8:99193020 [GRCh38]
Chr8:100205248 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7461C>A (p.Ser2487=) single nucleotide variant Cohen syndrome [RCV005118291] Chr8:99778713 [GRCh38]
Chr8:100790941 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11393-5C>T single nucleotide variant Cohen syndrome [RCV005127775] Chr8:99870780 [GRCh38]
Chr8:100883008 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1847T>C (p.Ile616Thr) single nucleotide variant Cohen syndrome [RCV005121075] Chr8:99147844 [GRCh38]
Chr8:100160072 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1666C>T (p.Gln556Ter) single nucleotide variant Cohen syndrome [RCV005143711] Chr8:99142988 [GRCh38]
Chr8:100155216 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10222G>A (p.Glu3408Lys) single nucleotide variant Cohen syndrome [RCV005139426] Chr8:99853611 [GRCh38]
Chr8:100865839 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3870+17A>C single nucleotide variant Cohen syndrome [RCV005186008] Chr8:99481819 [GRCh38]
Chr8:100494047 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9742+20A>G single nucleotide variant Cohen syndrome [RCV005119038] Chr8:99835344 [GRCh38]
Chr8:100847572 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4618C>T (p.Gln1540Ter) single nucleotide variant Cohen syndrome [RCV005124098] Chr8:99511497 [GRCh38]
Chr8:100523725 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11514G>A (p.Leu3838=) single nucleotide variant Cohen syndrome [RCV005144615] Chr8:99871466 [GRCh38]
Chr8:100883694 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11475C>T (p.Asn3825=) single nucleotide variant Cohen syndrome [RCV005157523] Chr8:99870867 [GRCh38]
Chr8:100883095 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6231T>C (p.Arg2077=) single nucleotide variant Cohen syndrome [RCV005119710] Chr8:99699709 [GRCh38]
Chr8:100711937 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3344_3354del (p.Val1115fs) deletion Cohen syndrome [RCV005142415] Chr8:99442531..99442541 [GRCh38]
Chr8:100454759..100454769 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.11496-19C>A single nucleotide variant Cohen syndrome [RCV005144748] Chr8:99871429 [GRCh38]
Chr8:100883657 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11044+9T>G single nucleotide variant Cohen syndrome [RCV005169129] Chr8:99859489 [GRCh38]
Chr8:100871717 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6047-16T>G single nucleotide variant Cohen syndrome [RCV005178475] Chr8:99699509 [GRCh38]
Chr8:100711737 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6951A>C (p.Pro2317=) single nucleotide variant Cohen syndrome [RCV005117271] Chr8:99720948 [GRCh38]
Chr8:100733176 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1770G>T (p.Ala590=) single nucleotide variant Cohen syndrome [RCV005140532] Chr8:99143092 [GRCh38]
Chr8:100155320 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3024G>A (p.Gln1008=) single nucleotide variant Cohen syndrome [RCV005167382] Chr8:99391646 [GRCh38]
Chr8:100403874 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-4C>T single nucleotide variant Cohen syndrome [RCV005206208] Chr8:99809371 [GRCh38]
Chr8:100821599 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7738G>A (p.Val2580Ile) single nucleotide variant Cohen syndrome [RCV005191915] Chr8:99778990 [GRCh38]
Chr8:100791218 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2206A>C (p.Lys736Gln) single nucleotide variant Cohen syndrome [RCV005080860] Chr8:99156741 [GRCh38]
Chr8:100168969 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6610C>T (p.Gln2204Ter) single nucleotide variant Cohen syndrome [RCV005167396] Chr8:99717326 [GRCh38]
Chr8:100729554 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.9614+13TA[4] microsatellite Cohen syndrome [RCV005132592] Chr8:99832664..99832665 [GRCh38]
Chr8:100844892..100844893 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9967dup (p.Tyr3323fs) duplication Cohen syndrome [RCV005137798] Chr8:99848799..99848800 [GRCh38]
Chr8:100861027..100861028 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1564-18G>A single nucleotide variant Cohen syndrome [RCV005167689] Chr8:99136647 [GRCh38]
Chr8:100148875 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4043-18G>A single nucleotide variant Cohen syndrome [RCV005167701] Chr8:99502818 [GRCh38]
Chr8:100515046 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2902C>T (p.Pro968Ser) single nucleotide variant Cohen syndrome [RCV005193525] Chr8:99384285 [GRCh38]
Chr8:100396513 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6364A>G (p.Thr2122Ala) single nucleotide variant Cohen syndrome [RCV005078181] Chr8:99699842 [GRCh38]
Chr8:100712070 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4745+19G>C single nucleotide variant Cohen syndrome [RCV005080786] Chr8:99521029 [GRCh38]
Chr8:100533257 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2841C>T (p.Cys947=) single nucleotide variant Cohen syndrome [RCV005137662] Chr8:99384224 [GRCh38]
Chr8:100396452 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.142del (p.Glu48fs) deletion Cohen syndrome [RCV005193770] Chr8:99013929 [GRCh38]
Chr8:100026157 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2333+12A>G single nucleotide variant Cohen syndrome [RCV005077919] Chr8:99170175 [GRCh38]
Chr8:100182403 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2401A>G (p.Thr801Ala) single nucleotide variant Cohen syndrome [RCV005189766] Chr8:99192943 [GRCh38]
Chr8:100205171 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8241T>C (p.Pro2747=) single nucleotide variant Cohen syndrome [RCV005125482] Chr8:99817683 [GRCh38]
Chr8:100829911 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7642A>G (p.Ile2548Val) single nucleotide variant Cohen syndrome [RCV005207162] Chr8:99778894 [GRCh38]
Chr8:100791122 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6435G>A (p.Lys2145=) single nucleotide variant Cohen syndrome [RCV005160848] Chr8:99699913 [GRCh38]
Chr8:100712141 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7248-4A>T single nucleotide variant Cohen syndrome [RCV005080115] Chr8:99776771 [GRCh38]
Chr8:100788999 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11957T>C (p.Met3986Thr) single nucleotide variant Cohen syndrome [RCV005141688] Chr8:99875629 [GRCh38]
Chr8:100887857 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11565A>C (p.Ser3855=) single nucleotide variant Cohen syndrome [RCV005076529] Chr8:99871517 [GRCh38]
Chr8:100883745 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5901A>G (p.Lys1967=) single nucleotide variant Cohen syndrome [RCV005151255] Chr8:99642491 [GRCh38]
Chr8:100654719 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8172C>G (p.Tyr2724Ter) single nucleotide variant Cohen syndrome [RCV005130063] Chr8:99817614 [GRCh38]
Chr8:100829842 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5717A>G (p.Gln1906Arg) single nucleotide variant Cohen syndrome [RCV005081051] Chr8:99642307 [GRCh38]
Chr8:100654535 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.1425+20C>T single nucleotide variant Cohen syndrome [RCV005186966] Chr8:99135157 [GRCh38]
Chr8:100147385 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.5697C>T (p.Ser1899=) single nucleotide variant Cohen syndrome [RCV005159819] Chr8:99642287 [GRCh38]
Chr8:100654515 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.852T>C (p.Leu284=) single nucleotide variant Cohen syndrome [RCV005159811] Chr8:99115789 [GRCh38]
Chr8:100128017 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6657+18A>C single nucleotide variant Cohen syndrome [RCV005138052] Chr8:99717391 [GRCh38]
Chr8:100729619 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2814C>T (p.Cys938=) single nucleotide variant Cohen syndrome [RCV005083400] Chr8:99275244 [GRCh38]
Chr8:100287472 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8400C>T (p.Cys2800=) single nucleotide variant Cohen syndrome [RCV005135510] Chr8:99818489 [GRCh38]
Chr8:100830717 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10171C>G (p.Leu3391Val) single nucleotide variant Cohen syndrome [RCV005108834] Chr8:99853560 [GRCh38]
Chr8:100865788 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3210+16_3210+19del deletion Cohen syndrome [RCV005123867] Chr8:99431679..99431682 [GRCh38]
Chr8:100443907..100443910 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3369dup (p.Ile1124fs) duplication Cohen syndrome [RCV005071426] Chr8:99442557..99442558 [GRCh38]
Chr8:100454785..100454786 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.8739G>C (p.Gly2913=) single nucleotide variant Cohen syndrome [RCV005120927] Chr8:99819529 [GRCh38]
Chr8:100831757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3656C>T (p.Ser1219Phe) single nucleotide variant Cohen syndrome [RCV005076961] Chr8:99467624 [GRCh38]
Chr8:100479852 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9331-3T>C single nucleotide variant Cohen syndrome [RCV005201142] Chr8:99832366 [GRCh38]
Chr8:100844594 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.9789C>T (p.Cys3263=) single nucleotide variant Cohen syndrome [RCV005078439] Chr8:99835585 [GRCh38]
Chr8:100847813 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11538C>A (p.Ala3846=) single nucleotide variant Cohen syndrome [RCV005140177] Chr8:99871490 [GRCh38]
Chr8:100883718 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9517del (p.Gln3173fs) deletion Cohen syndrome [RCV005141096] Chr8:99832555 [GRCh38]
Chr8:100844783 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1053C>G (p.Ser351=) single nucleotide variant Cohen syndrome [RCV005133307] Chr8:99121292 [GRCh38]
Chr8:100133520 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.8374A>G (p.Asn2792Asp) single nucleotide variant Cohen syndrome [RCV005073539] Chr8:99818463 [GRCh38]
Chr8:100830691 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.6198_6202dup (p.Asp2068fs) duplication Cohen syndrome [RCV005118288] Chr8:99699675..99699676 [GRCh38]
Chr8:100711903..100711904 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.762+7A>T single nucleotide variant Cohen syndrome [RCV005140101] Chr8:99111286 [GRCh38]
Chr8:100123514 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7602C>T (p.Cys2534=) single nucleotide variant Cohen syndrome [RCV005118585] Chr8:99778854 [GRCh38]
Chr8:100791082 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.2557del (p.Ile853fs) deletion Cohen syndrome [RCV005199166] Chr8:99274238 [GRCh38]
Chr8:100286466 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6939A>G (p.Leu2313=) single nucleotide variant Cohen syndrome [RCV005190509] Chr8:99720936 [GRCh38]
Chr8:100733164 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10572T>G (p.Leu3524=) single nucleotide variant Cohen syndrome [RCV005138351] Chr8:99853961 [GRCh38]
Chr8:100866189 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3105T>C (p.Pro1035=) single nucleotide variant Cohen syndrome [RCV005165075] Chr8:99431559 [GRCh38]
Chr8:100443787 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3893A>T (p.Glu1298Val) single nucleotide variant Cohen syndrome [RCV005136388] Chr8:99501709 [GRCh38]
Chr8:100513937 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.11857T>C (p.Cys3953Arg) single nucleotide variant Cohen syndrome [RCV005138383] Chr8:99875529 [GRCh38]
Chr8:100887757 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8007T>C (p.His2669=) single nucleotide variant Cohen syndrome [RCV005189251] Chr8:99809440 [GRCh38]
Chr8:100821668 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3083-17G>T single nucleotide variant Cohen syndrome [RCV005163442] Chr8:99431520 [GRCh38]
Chr8:100443748 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1640C>G (p.Thr547Ser) single nucleotide variant Cohen syndrome [RCV005139460] Chr8:99136741 [GRCh38]
Chr8:100148969 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5576T>C (p.Val1859Ala) single nucleotide variant Cohen syndrome [RCV005122475] Chr8:99642166 [GRCh38]
Chr8:100654394 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4950-10T>C single nucleotide variant Cohen syndrome [RCV005120280] Chr8:99575648 [GRCh38]
Chr8:100587876 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1766_1775del (p.Ser589fs) deletion Cohen syndrome [RCV005121483] Chr8:99143085..99143094 [GRCh38]
Chr8:100155313..100155322 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.1652-7C>G single nucleotide variant Cohen syndrome [RCV005121505] Chr8:99142967 [GRCh38]
Chr8:100155195 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6296T>A (p.Met2099Lys) single nucleotide variant Cohen syndrome [RCV005162575] Chr8:99699774 [GRCh38]
Chr8:100712002 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.3667-9T>C single nucleotide variant Cohen syndrome [RCV005148260] Chr8:99481590 [GRCh38]
Chr8:100493818 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.453A>T (p.Val151=) single nucleotide variant Cohen syndrome [RCV005118973] Chr8:99102993 [GRCh38]
Chr8:100115221 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7543G>C (p.Gly2515Arg) single nucleotide variant Cohen syndrome [RCV005197550] Chr8:99778795 [GRCh38]
Chr8:100791023 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7780-20T>C single nucleotide variant Cohen syndrome [RCV005115467] Chr8:99784295 [GRCh38]
Chr8:100796523 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6474A>C (p.Ser2158=) single nucleotide variant Cohen syndrome [RCV005116134] Chr8:99717190 [GRCh38]
Chr8:100729418 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11533A>G (p.Met3845Val) single nucleotide variant Cohen syndrome [RCV005182449] Chr8:99871485 [GRCh38]
Chr8:100883713 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.7809del (p.Phe2604fs) deletion Cohen syndrome [RCV005129357] Chr8:99784344 [GRCh38]
Chr8:100796572 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.2769T>C (p.Asp923=) single nucleotide variant Cohen syndrome [RCV005199699] Chr8:99275199 [GRCh38]
Chr8:100287427 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3502G>A (p.Gly1168Arg) single nucleotide variant Cohen syndrome [RCV005152773] Chr8:99467470 [GRCh38]
Chr8:100479698 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.147+1G>C single nucleotide variant Cohen syndrome [RCV005127208] Chr8:99013936 [GRCh38]
Chr8:100026164 [GRCh37]
Chr8:8q22.2		 likely pathogenic
NM_152564.5(VPS13B):c.8109T>C (p.Cys2703=) single nucleotide variant Cohen syndrome [RCV005113507] Chr8:99817551 [GRCh38]
Chr8:100829779 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6216C>T (p.Val2072=) single nucleotide variant Cohen syndrome [RCV005122803] Chr8:99699694 [GRCh38]
Chr8:100711922 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6658-18T>G single nucleotide variant Cohen syndrome [RCV005183629] Chr8:99720327 [GRCh38]
Chr8:100732555 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.4224+562T>C single nucleotide variant Cohen syndrome [RCV005202226] Chr8:99507765 [GRCh38]
Chr8:100519993 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7779+18C>T single nucleotide variant Cohen syndrome [RCV005073278] Chr8:99779049 [GRCh38]
Chr8:100791277 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.7942-20A>G single nucleotide variant Cohen syndrome [RCV005180312] Chr8:99809355 [GRCh38]
Chr8:100821583 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3054C>T (p.Ser1018=) single nucleotide variant Cohen syndrome [RCV005115843] Chr8:99391676 [GRCh38]
Chr8:100403904 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.6865G>A (p.Glu2289Lys) single nucleotide variant Cohen syndrome [RCV005182769] Chr8:99720552 [GRCh38]
Chr8:100732780 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.2515+12G>T single nucleotide variant Cohen syndrome [RCV005114833] Chr8:99193069 [GRCh38]
Chr8:100205297 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9943-16A>G single nucleotide variant Cohen syndrome [RCV005123121] Chr8:99848760 [GRCh38]
Chr8:100860988 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9183+14C>G single nucleotide variant Cohen syndrome [RCV005204805] Chr8:99821496 [GRCh38]
Chr8:100833724 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10401del (p.Glu3468fs) deletion Cohen syndrome [RCV005123985] Chr8:99853788 [GRCh38]
Chr8:100866016 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10281del (p.Gln3428fs) deletion Cohen syndrome [RCV005201421] Chr8:99853670 [GRCh38]
Chr8:100865898 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.6616A>G (p.Ile2206Val) single nucleotide variant Cohen syndrome [RCV005153253] Chr8:99717332 [GRCh38]
Chr8:100729560 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8082T>C (p.Asn2694=) single nucleotide variant Cohen syndrome [RCV005203722] Chr8:99809515 [GRCh38]
Chr8:100821743 [GRCh37]
Chr8:8q22.2		 likely benign
NM_017890.5(VPS13B):c.4168G>T (p.Glu1390Ter) single nucleotide variant Cohen syndrome [RCV005199194] Chr8:99507780 [GRCh38]
Chr8:100520008 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.5217A>C (p.Ala1739=) single nucleotide variant Cohen syndrome [RCV005179537] Chr8:99577630 [GRCh38]
Chr8:100589858 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3738C>T (p.Leu1246=) single nucleotide variant Cohen syndrome [RCV005115574] Chr8:99481670 [GRCh38]
Chr8:100493898 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.9669A>C (p.Ser3223=) single nucleotide variant Cohen syndrome [RCV005124026] Chr8:99835251 [GRCh38]
Chr8:100847479 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1153G>T (p.Asp385Tyr) single nucleotide variant Cohen syndrome [RCV005150001] Chr8:99121392 [GRCh38]
Chr8:100133620 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8357T>C (p.Ile2786Thr) single nucleotide variant Cohen syndrome [RCV005153410] Chr8:99817799 [GRCh38]
Chr8:100830027 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.4377T>G (p.Gly1459=) single nucleotide variant Cohen syndrome [RCV005150137] Chr8:99511256 [GRCh38]
Chr8:100523484 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.10120T>C (p.Phe3374Leu) single nucleotide variant Cohen syndrome [RCV005154512] Chr8:99853509 [GRCh38]
Chr8:100865737 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.5220+16T>C single nucleotide variant Cohen syndrome [RCV005184343] Chr8:99577649 [GRCh38]
Chr8:100589877 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.1913C>G (p.Thr638Ser) single nucleotide variant not provided [RCV005205795] Chr8:99147910 [GRCh38]
Chr8:100160138 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.8621+13T>G single nucleotide variant Cohen syndrome [RCV005154612] Chr8:99818901 [GRCh38]
Chr8:100831129 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.762+9C>A single nucleotide variant Cohen syndrome [RCV005123525] Chr8:99111288 [GRCh38]
Chr8:100123516 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.3565T>A (p.Ser1189Thr) single nucleotide variant Cohen syndrome [RCV005200612] Chr8:99467533 [GRCh38]
Chr8:100479761 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.10964_10979del (p.Glu3655fs) deletion Cohen syndrome [RCV005126848] Chr8:99859399..99859414 [GRCh38]
Chr8:100871627..100871642 [GRCh37]
Chr8:8q22.2		 pathogenic
NM_152564.5(VPS13B):c.10140C>T (p.His3380=) single nucleotide variant Cohen syndrome [RCV005122645] Chr8:99853529 [GRCh38]
Chr8:100865757 [GRCh37]
Chr8:8q22.2		 likely benign
NM_152564.5(VPS13B):c.11390A>G (p.Tyr3797Cys) single nucleotide variant Cohen syndrome [RCV005178694] Chr8:99868463 [GRCh38]
Chr8:100880691 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_152564.5(VPS13B):c.531A>G (p.Glu177=) single nucleotide variant Cohen syndrome [RCV005176456] Chr8:99103071 [GRCh38]
Chr8:100115299 [GRCh37]
Chr8:8q22.2		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7063
Count of miRNA genes:1470
Interacting mature miRNAs:1996
Transcripts:ENST00000355155, ENST00000357162, ENST00000358544, ENST00000395996, ENST00000441350, ENST00000493587, ENST00000496144, ENST00000518569, ENST00000521037, ENST00000521559, ENST00000521932, ENST00000522802, ENST00000524330
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596953109GWAS1072628_Hsize QTL GWAS1072628 (human)1e-09size89968446799684468Human
597334620GWAS1430694_Htuberculosis QTL GWAS1430694 (human)3e-09tuberculosis89973093899730939Human
597164447GWAS1260521_Hcholelithiasis QTL GWAS1260521 (human)1e-08cholelithiasis89954525499545255Human
597593238GWAS1650098_Hprostate specific antigen amount QTL GWAS1650098 (human)2e-19prostate specific antigen amount89937412599374126Human
597031645GWAS1127719_Hsugar consumption measurement QTL GWAS1127719 (human)0.000003sugar consumption measurementsucrose drink intake volume (CMO:0002200)89948946099489461Human
597615767GWAS1672627_Hprostate specific antigen amount QTL GWAS1672627 (human)2e-13prostate specific antigen amount89937412599374126Human
407123086GWAS772062_Hmean corpuscular hemoglobin QTL GWAS772062 (human)3e-12mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)89981232299812323Human
597125595GWAS1221669_HMyopia QTL GWAS1221669 (human)0.0000009Myopia89959521199595212Human
597155674GWAS1251748_Hdiet measurement, apolipoprotein B measurement QTL GWAS1251748 (human)0.000003eating behavior trait (VT:0001431)blood apoliprotein B level (CMO:0000522)89986682899866829Human
407024397GWAS673373_Hhippocampal atrophy QTL GWAS673373 (human)0.000001hippocampal atrophy89982295499822955Human
597149382GWAS1245456_Hendometriosis QTL GWAS1245456 (human)8e-10endometriosis89913814399138144Human
406934608GWAS583584_Hheel bone mineral density QTL GWAS583584 (human)8e-12heel bone mineral densitybone mineral density (CMO:0001226)89983461299834613Human
597061967GWAS1158041_Hsusceptibility to childhood ear infection measurement QTL GWAS1158041 (human)0.000008response to infection trait (VT:0010434)89962586799625868Human
406978587GWAS627563_Hheel bone mineral density QTL GWAS627563 (human)8e-14heel bone mineral densitybone mineral density (CMO:0001226)89983461299834613Human
596965197GWAS1084716_Hdiet measurement, apolipoprotein B measurement QTL GWAS1084716 (human)0.000003diet measurement, apolipoprotein B measurement89986682899866829Human
597620421GWAS1677281_HMeniere disease QTL GWAS1677281 (human)6e-12Meniere disease89967299599672996Human
597291138GWAS1387212_Hsize QTL GWAS1387212 (human)1e-09size89968446799684468Human
597084937GWAS1181011_Hmean corpuscular hemoglobin QTL GWAS1181011 (human)6e-09mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)89968480199684802Human
597149555GWAS1245629_Hendometriosis QTL GWAS1245629 (human)4e-09endometriosis89950936099509361Human
597113906GWAS1209980_Herythrocyte count QTL GWAS1209980 (human)1e-10erythrocyte countred blood cell count (CMO:0000025)89968480199684802Human
597028851GWAS1124925_Hresponse to angiotensin-converting enzyme inhibitor, Cough QTL GWAS1124925 (human)0.000002response to angiotensin-converting enzyme inhibitor, Cough89985345499853455Human
597048817GWAS1144891_Herythrocyte count QTL GWAS1144891 (human)4e-11erythrocyte countred blood cell count (CMO:0000025)89920035399200354Human
406995432GWAS644408_Hmean corpuscular hemoglobin concentration QTL GWAS644408 (human)7e-13mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)89981232299812323Human
597603890GWAS1660750_Hprostate specific antigen amount QTL GWAS1660750 (human)6e-18prostate specific antigen amount89937412599374126Human
406954991GWAS603967_HCleft palate, cleft lip QTL GWAS603967 (human)8e-08Cleft palate, cleft lip89951759899517599Human
597167414GWAS1263488_Hurolithiasis QTL GWAS1263488 (human)7e-09urolithiasis89956474699564747Human
597615466GWAS1672326_Hprostate specific antigen amount QTL GWAS1672326 (human)3e-14prostate specific antigen amount89937412599374126Human
406988215GWAS637191_Hmean corpuscular hemoglobin concentration QTL GWAS637191 (human)6e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)89981141899811419Human
596978595GWAS1098114_Hbody height QTL GWAS1098114 (human)4e-12body height89968446799684468Human
597591014GWAS1647874_Hprostate specific antigen amount QTL GWAS1647874 (human)5e-14prostate specific antigen amount89937412599374126Human
597224930GWAS1321004_Hpneumonia, COVID-19 QTL GWAS1321004 (human)0.000007pneumonia, COVID-1989985168699851687Human
406962618GWAS611594_Hsmoking initiation QTL GWAS611594 (human)0.000008smoking initiation89948341199483412Human
597211299GWAS1307373_Hheel bone mineral density QTL GWAS1307373 (human)4e-11heel bone mineral densitybone mineral density (CMO:0001226)89968480199684802Human
597061802GWAS1157876_Hsusceptibility to childhood ear infection measurement QTL GWAS1157876 (human)0.000008response to infection trait (VT:0010434)89919653899196539Human
597211300GWAS1307374_Hheel bone mineral density QTL GWAS1307374 (human)8e-10heel bone mineral densitybone mineral density (CMO:0001226)89977758799777588Human
597337893GWAS1433967_HNF-kappa-B essential modulator measurement QTL GWAS1433967 (human)2e-09NF-kappa-B essential modulator measurement89913467399134674Human

Markers in Region
D8S1762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,461,161 - 101,461,390UniSTSGRCh37
Build 368101,530,337 - 101,530,566RGDNCBI36
Celera897,646,529 - 97,646,758RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,661,444 - 96,661,673UniSTS
Marshfield Genetic Map8112.42RGD
Marshfield Genetic Map8112.42UniSTS
Genethon Genetic Map8111.8UniSTS
deCODE Assembly Map8105.41UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,669,541 - 100,669,782UniSTSGRCh37
Build 368100,738,717 - 100,738,958RGDNCBI36
Celera896,855,285 - 96,855,540RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,872,324 - 95,872,579UniSTS
Marshfield Genetic Map8112.42UniSTS
Marshfield Genetic Map8112.42RGD
Genethon Genetic Map8111.1UniSTS
deCODE Assembly Map8104.98UniSTS
Stanford-G3 RH Map83602.0UniSTS
GeneMap99-GB4 RH Map8439.81UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81109.0UniSTS
GeneMap99-G3 RH Map83692.0UniSTS
D8S546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,436,802 - 101,436,966UniSTSGRCh37
Build 368101,505,978 - 101,506,142RGDNCBI36
Celera897,622,169 - 97,622,333RGD
Cytogenetic Map8q22.2UniSTS
Marshfield Genetic Map8113.16RGD
Marshfield Genetic Map8113.16UniSTS
Genethon Genetic Map8111.8UniSTS
deCODE Assembly Map8105.52UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,423,440 - 101,423,609UniSTSGRCh37
Build 368101,492,616 - 101,492,785RGDNCBI36
Celera897,608,803 - 97,608,972RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,626,295 - 96,626,462UniSTS
Marshfield Genetic Map8113.16RGD
Marshfield Genetic Map8113.16UniSTS
Genethon Genetic Map8111.8UniSTS
Whitehead-YAC Contig Map8 UniSTS
A008R07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,866,014 - 100,866,115UniSTSGRCh37
Build 368100,935,190 - 100,935,291RGDNCBI36
Celera897,051,815 - 97,051,916RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,068,649 - 96,068,750UniSTS
GeneMap99-GB4 RH Map8438.29UniSTS
RH67322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,887,696 - 100,887,809UniSTSGRCh37
Build 368100,956,872 - 100,956,985RGDNCBI36
Celera897,073,496 - 97,073,609RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,090,327 - 96,090,440UniSTS
RH102808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,025,104 - 100,025,192UniSTSGRCh37
Build 368100,094,280 - 100,094,368RGDNCBI36
Celera896,210,835 - 96,210,923RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,227,880 - 95,227,968UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
SHGC-82008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,717,223 - 100,717,513UniSTSGRCh37
Build 368100,786,399 - 100,786,689RGDNCBI36
Celera896,902,982 - 96,903,272RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,920,020 - 95,920,310UniSTS
TNG Radiation Hybrid Map847897.0UniSTS
RH123160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,879,027 - 100,879,337UniSTSGRCh37
Build 368100,948,203 - 100,948,513RGDNCBI36
Celera897,064,827 - 97,065,137RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,081,658 - 96,081,968UniSTS
TNG Radiation Hybrid Map847940.0UniSTS
D8S600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,646,000 - 100,646,165UniSTSGRCh37
Build 368100,715,176 - 100,715,341RGDNCBI36
Celera896,831,738 - 96,831,909RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,848,792 - 95,848,963UniSTS
D8S1415E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,889,527 - 100,889,684UniSTSGRCh37
Build 368100,958,703 - 100,958,860RGDNCBI36
Celera897,075,327 - 97,075,484RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,092,157 - 96,092,314UniSTS
D8S1427E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,888,691 - 100,888,790UniSTSGRCh37
Build 368100,957,867 - 100,957,966RGDNCBI36
Celera897,074,491 - 97,074,590RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,091,321 - 96,091,420UniSTS
G66806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,288,135 - 100,288,479UniSTSGRCh37
Build 368100,357,311 - 100,357,655RGDNCBI36
Celera896,473,841 - 96,474,185RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,490,533 - 95,490,877UniSTS
TNG Radiation Hybrid Map847663.0UniSTS
SHGC-111567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,443,329 - 100,443,445UniSTSGRCh37
Build 368100,512,505 - 100,512,621RGDNCBI36
Celera896,629,067 - 96,629,183RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,645,435 - 95,645,551UniSTS
TNG Radiation Hybrid Map847721.0UniSTS
SHGC-144958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,265,809 - 100,266,105UniSTSGRCh37
Build 368100,334,985 - 100,335,281RGDNCBI36
Celera896,451,516 - 96,451,812RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,467,925 - 95,468,221UniSTS
TNG Radiation Hybrid Map847630.0UniSTS
SHGC-150813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,669,413 - 100,669,685UniSTSGRCh37
Build 368100,738,589 - 100,738,861RGDNCBI36
Celera896,855,157 - 96,855,429RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,872,196 - 95,872,468UniSTS
TNG Radiation Hybrid Map847857.0UniSTS
TNG Radiation Hybrid Map1100120.0UniSTS
A003B20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,889,531 - 100,889,778UniSTSGRCh37
Build 368100,958,707 - 100,958,954RGDNCBI36
Celera897,075,331 - 97,075,578RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,092,161 - 96,092,408UniSTS
GeneMap99-GB4 RH Map8439.53UniSTS
NCBI RH Map81111.2UniSTS
D8S470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,674,509 - 100,674,735UniSTSGRCh37
Build 368100,743,685 - 100,743,911RGDNCBI36
Celera896,860,267 - 96,860,493RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,877,306 - 95,877,532UniSTS
Stanford-G3 RH Map83607.0UniSTS
NCBI RH Map81127.8UniSTS
SHGC-112138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,302,906 - 100,303,066UniSTSGRCh37
Build 368100,372,082 - 100,372,242RGDNCBI36
Celera896,488,619 - 96,488,779RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,505,319 - 95,505,479UniSTS
TNG Radiation Hybrid Map847683.0UniSTS
SHGC-52565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,810,659 - 100,810,835UniSTSGRCh37
Build 368100,879,835 - 100,880,011RGDNCBI36
Celera896,996,422 - 96,996,598RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,013,464 - 96,013,640UniSTS
TNG Radiation Hybrid Map847910.0UniSTS
GeneMap99-G3 RH Map83686.0UniSTS
D8S1649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,857,913 - 100,858,100UniSTSGRCh37
Build 368100,927,089 - 100,927,276RGDNCBI36
Celera897,043,680 - 97,043,867RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,060,716 - 96,060,903UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH68094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,250,165 - 100,250,382UniSTSGRCh37
Build 368100,319,341 - 100,319,558RGDNCBI36
Celera896,435,874 - 96,436,091RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,452,294 - 95,452,511UniSTS
GeneMap99-GB4 RH Map8442.24UniSTS
NCBI RH Map81121.5UniSTS
STS-N66159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,890,099 - 100,890,255UniSTSGRCh37
Build 368100,959,275 - 100,959,431RGDNCBI36
Celera897,075,899 - 97,076,055RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,092,729 - 96,092,885UniSTS
GeneMap99-GB4 RH Map8437.68UniSTS
NCBI RH Map81110.1UniSTS
G32151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,612,625 - 100,612,881UniSTSGRCh37
Build 368100,681,801 - 100,682,057RGDNCBI36
Celera896,798,362 - 96,798,618RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,815,416 - 95,815,672UniSTS
G32190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,738,653 - 100,738,790UniSTSGRCh37
Build 368100,807,829 - 100,807,966RGDNCBI36
Celera896,924,411 - 96,924,548RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,941,449 - 95,941,586UniSTS
WI-14296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,889,657 - 100,889,756UniSTSGRCh37
Build 368100,958,833 - 100,958,932RGDNCBI36
Celera897,075,457 - 97,075,556RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,092,287 - 96,092,386UniSTS
GeneMap99-GB4 RH Map8438.11UniSTS
Whitehead-RH Map8584.4UniSTS
G17262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,480,926 - 100,481,171UniSTSGRCh37
Build 368100,550,102 - 100,550,347RGDNCBI36
Celera896,666,660 - 96,666,905RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,683,067 - 95,683,312UniSTS
WI-11650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,724,825 - 100,724,973UniSTSGRCh37
Build 368100,794,001 - 100,794,149RGDNCBI36
Celera896,910,583 - 96,910,731RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,927,621 - 95,927,769UniSTS
GeneMap99-GB4 RH Map8439.63UniSTS
Whitehead-RH Map8584.4UniSTS
NCBI RH Map81114.6UniSTS
D8S590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,284,665 - 100,284,926UniSTSGRCh37
Build 368100,353,841 - 100,354,102RGDNCBI36
Celera896,470,373 - 96,470,634RGD
Cytogenetic Map8q22.2UniSTS
HuRef895,487,132 - 95,487,393UniSTS
Stanford-G3 RH Map83630.0UniSTS
Whitehead-RH Map8571.1UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81214.0UniSTS
1734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,889,668 - 100,889,748UniSTSGRCh37
Build 368100,958,844 - 100,958,924RGDNCBI36
Celera897,075,468 - 97,075,548RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,092,298 - 96,092,378UniSTS
GeneMap99-GB4 RH Map8435.77UniSTS
A006N10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,888,799 - 100,888,974UniSTSGRCh37
Build 368100,957,975 - 100,958,150RGDNCBI36
Celera897,074,599 - 97,074,774RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,091,429 - 96,091,604UniSTS
GeneMap99-GB4 RH Map8435.66UniSTS
NCBI RH Map81074.3UniSTS
WI-17906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,819,933 - 100,820,061UniSTSGRCh37
Build 368100,889,109 - 100,889,237RGDNCBI36
Celera897,005,696 - 97,005,824RGD
Cytogenetic Map8q22.2UniSTS
GeneMap99-GB4 RH Map8438.52UniSTS
Whitehead-RH Map8584.4UniSTS
NCBI RH Map81113.5UniSTS
COH1__4613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,133,463 - 100,134,064UniSTSGRCh37
Build 368100,202,639 - 100,203,240RGDNCBI36
Celera896,319,172 - 96,319,773RGD
HuRef895,335,800 - 95,336,401UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS
G34962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,887,696 - 100,887,809UniSTSGRCh37
Celera897,073,496 - 97,073,609UniSTS
Cytogenetic Map8q22.2UniSTS
HuRef896,090,327 - 96,090,440UniSTS
G54563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,874,906 - 100,875,188UniSTSGRCh37
Celera897,060,706 - 97,060,988UniSTS
Cytogenetic Map8q22.2UniSTS
HuRef896,077,537 - 96,077,819UniSTS
ha3298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,058,305 - 100,058,760UniSTSGRCh37
GRCh371373,801,064 - 73,801,557UniSTSGRCh37
Celera1354,699,955 - 54,700,448UniSTS
Celera896,244,014 - 96,244,469UniSTS
HuRef1354,499,012 - 54,499,505UniSTS
HuRef3119,773,810 - 119,774,082UniSTS
HuRef895,260,639 - 95,261,094UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2251 4973 1726 2351 6 624 1951 465 2269 7304 6470 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ608772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ608773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP004289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP004290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY223814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY223815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY223816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY223817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY223818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX098890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA447487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000355155   ⟹   ENSP00000347281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,311 - 99,511,340 (+)Ensembl
Ensembl Acc Id: ENST00000357162   ⟹   ENSP00000349685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,274 - 99,877,580 (+)Ensembl
Ensembl Acc Id: ENST00000358544   ⟹   ENSP00000351346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,274 - 99,877,580 (+)Ensembl
Ensembl Acc Id: ENST00000441350   ⟹   ENSP00000398472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,274 - 99,121,762 (+)Ensembl
Ensembl Acc Id: ENST00000493587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,868,057 - 99,877,580 (+)Ensembl
Ensembl Acc Id: ENST00000496144   ⟹   ENSP00000430900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,266 - 99,577,785 (+)Ensembl
Ensembl Acc Id: ENST00000518569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,720,868 - 99,778,835 (+)Ensembl
Ensembl Acc Id: ENST00000521037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,389,616 - 99,442,411 (+)Ensembl
Ensembl Acc Id: ENST00000521559   ⟹   ENSP00000428809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,520,899 - 99,641,893 (+)Ensembl
Ensembl Acc Id: ENST00000521932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,156,629 - 99,241,502 (+)Ensembl
Ensembl Acc Id: ENST00000522802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,275,209 - 99,424,532 (+)Ensembl
Ensembl Acc Id: ENST00000524330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,103,059 - 99,121,332 (+)Ensembl
Ensembl Acc Id: ENST00000682145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,308 - 99,502,660 (+)Ensembl
Ensembl Acc Id: ENST00000682153   ⟹   ENSP00000507923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,307 - 99,877,562 (+)Ensembl
Ensembl Acc Id: ENST00000682234   ⟹   ENSP00000508225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,311 - 99,502,442 (+)Ensembl
Ensembl Acc Id: ENST00000682358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,307 - 99,877,555 (+)Ensembl
Ensembl Acc Id: ENST00000682806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,276 - 99,114,855 (+)Ensembl
Ensembl Acc Id: ENST00000682853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,272 - 99,193,385 (+)Ensembl
Ensembl Acc Id: ENST00000683334   ⟹   ENSP00000507369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,269 - 99,877,561 (+)Ensembl
Ensembl Acc Id: ENST00000683486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,311 - 99,442,836 (+)Ensembl
Ensembl Acc Id: ENST00000683619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,274 - 99,502,660 (+)Ensembl
Ensembl Acc Id: ENST00000683869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,296 - 99,392,341 (+)Ensembl
Ensembl Acc Id: ENST00000684269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,276 - 99,137,068 (+)Ensembl
Ensembl Acc Id: ENST00000684308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl899,013,311 - 99,241,113 (+)Ensembl
RefSeq Acc Id: NM_015243   ⟹   NP_056058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,013,274 - 99,209,787 (+)NCBI
GRCh378100,025,299 - 100,890,447 (+)NCBI
Build 368100,094,670 - 100,291,191 (+)NCBI Archive
HuRef895,228,270 - 96,092,444 (+)NCBI
CHM1_18100,066,127 - 100,262,865 (+)NCBI
T2T-CHM13v2.08100,138,009 - 100,334,797 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017890   ⟹   NP_060360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,013,274 - 99,877,580 (+)NCBI
GRCh378100,025,299 - 100,890,447 (+)NCBI
Build 368100,094,670 - 100,958,984 (+)NCBI Archive
HuRef895,228,270 - 96,092,444 (+)NCBI
CHM1_18100,066,127 - 100,930,595 (+)NCBI
T2T-CHM13v2.08100,138,009 - 101,002,539 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152564   ⟹   NP_689777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,013,274 - 99,877,580 (+)NCBI
GRCh378100,025,299 - 100,890,447 (+)NCBI
Build 368100,094,670 - 100,958,984 (+)NCBI Archive
HuRef895,228,270 - 96,092,444 (+)NCBI
CHM1_18100,066,127 - 100,930,595 (+)NCBI
T2T-CHM13v2.08100,138,009 - 101,002,539 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181661   ⟹   NP_858047
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,013,274 - 99,121,762 (+)NCBI
GRCh378100,025,299 - 100,890,447 (+)NCBI
Build 368100,094,670 - 100,203,166 (+)NCBI Archive
HuRef895,228,270 - 96,092,444 (+)NCBI
CHM1_18100,066,127 - 100,174,827 (+)NCBI
T2T-CHM13v2.08100,138,009 - 100,246,479 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047582
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,013,274 - 99,121,762 (+)NCBI
GRCh378100,025,299 - 100,890,447 (+)NCBI
HuRef895,228,270 - 96,092,444 (+)NCBI
CHM1_18100,066,127 - 100,174,827 (+)NCBI
T2T-CHM13v2.08100,138,009 - 100,246,479 (+)NCBI
Sequence:
RefSeq Acc Id: NP_689777   ⟸   NM_152564
- Peptide Label: isoform 1
- UniProtKB: A0A804HKG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060360   ⟸   NM_017890
- Peptide Label: isoform 5
- UniProtKB: Q9Y4E7 (UniProtKB/Swiss-Prot),   Q9NWV1 (UniProtKB/Swiss-Prot),   Q8NB77 (UniProtKB/Swiss-Prot),   Q7Z7G8 (UniProtKB/Swiss-Prot),   Q7Z7G7 (UniProtKB/Swiss-Prot),   Q7Z7G6 (UniProtKB/Swiss-Prot),   Q7Z7G5 (UniProtKB/Swiss-Prot),   Q7Z7G4 (UniProtKB/Swiss-Prot),   Q709C7 (UniProtKB/Swiss-Prot),   Q709C6 (UniProtKB/Swiss-Prot),   C9JD30 (UniProtKB/Swiss-Prot),   A0A804HKG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056058   ⟸   NM_015243
- Peptide Label: isoform 3
- UniProtKB: Q7Z7G8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_858047   ⟸   NM_181661
- Peptide Label: isoform 4
- UniProtKB: Q53G09 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000398472   ⟸   ENST00000441350
Ensembl Acc Id: ENSP00000428809   ⟸   ENST00000521559
Ensembl Acc Id: ENSP00000430900   ⟸   ENST00000496144
Ensembl Acc Id: ENSP00000347281   ⟸   ENST00000355155
Ensembl Acc Id: ENSP00000349685   ⟸   ENST00000357162
Ensembl Acc Id: ENSP00000351346   ⟸   ENST00000358544
Ensembl Acc Id: ENSP00000507923   ⟸   ENST00000682153
Ensembl Acc Id: ENSP00000508225   ⟸   ENST00000682234
Ensembl Acc Id: ENSP00000507369   ⟸   ENST00000683334
Protein Domains
Chorein N-terminal   SHR-BD   Vacuolar protein sorting-associated protein 13 VPS13

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z7G8-F1-model_v2 AlphaFold Q7Z7G8 1-1400 view protein structure
AF-Q7Z7G8-F2-model_v2 AlphaFold Q7Z7G8 201-1600 view protein structure
AF-Q7Z7G8-F3-model_v2 AlphaFold Q7Z7G8 401-1800 view protein structure
AF-Q7Z7G8-F4-model_v2 AlphaFold Q7Z7G8 601-2000 view protein structure
AF-Q7Z7G8-F5-model_v2 AlphaFold Q7Z7G8 801-2200 view protein structure
AF-Q7Z7G8-F6-model_v2 AlphaFold Q7Z7G8 1001-2400 view protein structure
AF-Q7Z7G8-F7-model_v2 AlphaFold Q7Z7G8 1201-2600 view protein structure
AF-Q7Z7G8-F8-model_v2 AlphaFold Q7Z7G8 1401-2800 view protein structure
AF-Q7Z7G8-F9-model_v2 AlphaFold Q7Z7G8 1601-3000 view protein structure
AF-Q7Z7G8-F10-model_v2 AlphaFold Q7Z7G8 1801-3200 view protein structure
AF-Q7Z7G8-F11-model_v2 AlphaFold Q7Z7G8 2001-3400 view protein structure
AF-Q7Z7G8-F12-model_v2 AlphaFold Q7Z7G8 2201-3600 view protein structure
AF-Q7Z7G8-F13-model_v2 AlphaFold Q7Z7G8 2401-3800 view protein structure
AF-Q7Z7G8-F14-model_v2 AlphaFold Q7Z7G8 2601-4000 view protein structure
AF-Q7Z7G8-F15-model_v2 AlphaFold Q7Z7G8 2801-4022 view protein structure

Promoters
RGD ID:7213877
Promoter ID:EPDNEW_H12684
Type:initiation region
Name:VPS13B_2
Description:vacuolar protein sorting 13 homolog B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12685  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,013,074 - 99,013,134EPDNEW
RGD ID:7213881
Promoter ID:EPDNEW_H12685
Type:initiation region
Name:VPS13B_1
Description:vacuolar protein sorting 13 homolog B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,013,274 - 99,013,334EPDNEW
RGD ID:6807155
Promoter ID:HG_KWN:61789
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395996,   NM_015243,   NM_017890,   NM_152564,   NM_181661,   OTTHUMT00000277139,   UC003YIU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368100,094,091 - 100,094,927 (+)MPROMDB
RGD ID:6807157
Promoter ID:HG_KWN:61794
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000277141
Position:
Human AssemblyChrPosition (strand)Source
Build 368100,949,591 - 100,950,091 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2183 AgrOrtholog
COSMIC VPS13B COSMIC
Ensembl Genes ENSG00000132549 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355155.6 UniProtKB/TrEMBL
  ENST00000357162 ENTREZGENE
  ENST00000357162.7 UniProtKB/Swiss-Prot
  ENST00000358544 ENTREZGENE
  ENST00000358544.7 UniProtKB/Swiss-Prot
  ENST00000441350 ENTREZGENE
  ENST00000441350.2 UniProtKB/Swiss-Prot
  ENST00000496144.5 UniProtKB/Swiss-Prot
  ENST00000521559.1 UniProtKB/TrEMBL
  ENST00000682153.1 UniProtKB/TrEMBL
  ENST00000682234.1 UniProtKB/TrEMBL
  ENST00000682853 ENTREZGENE
  ENST00000683334.1 UniProtKB/TrEMBL
GTEx ENSG00000132549 GTEx
HGNC ID HGNC:2183 ENTREZGENE
Human Proteome Map VPS13B Human Proteome Map
InterPro SHR-BD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13-like_N UniProtKB/TrEMBL
  VPS13_C UniProtKB/Swiss-Prot
  VPS13_N UniProtKB/Swiss-Prot
  VPS13B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:157680 UniProtKB/Swiss-Prot
NCBI Gene VPS13B ENTREZGENE
OMIM 607817 OMIM
PANTHER PTHR12517 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VACUOLAR PROTEIN SORTING-ASSOCIATED PROTEIN 13B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Chorein_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHR-BD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS13_C UniProtKB/Swiss-Prot
PharmGKB PA26699 PharmGKB
UniProt A0A804HJ62_HUMAN UniProtKB/TrEMBL
  A0A804HKG9 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HL73_HUMAN UniProtKB/TrEMBL
  A0A8C8KE22_HUMAN UniProtKB/TrEMBL
  C9JD30 ENTREZGENE
  H0YB72_HUMAN UniProtKB/TrEMBL
  L8EAQ4_HUMAN UniProtKB/TrEMBL
  Q53G09 ENTREZGENE, UniProtKB/TrEMBL
  Q709C6 ENTREZGENE
  Q709C7 ENTREZGENE
  Q7Z7G4 ENTREZGENE
  Q7Z7G5 ENTREZGENE
  Q7Z7G6 ENTREZGENE
  Q7Z7G7 ENTREZGENE
  Q7Z7G8 ENTREZGENE
  Q8N509_HUMAN UniProtKB/TrEMBL
  Q8NB77 ENTREZGENE
  Q8WW67_HUMAN UniProtKB/TrEMBL
  Q9NWV1 ENTREZGENE
  Q9Y4E7 ENTREZGENE
  VP13B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary C9JD30 UniProtKB/Swiss-Prot
  Q709C6 UniProtKB/Swiss-Prot
  Q709C7 UniProtKB/Swiss-Prot
  Q7Z7G4 UniProtKB/Swiss-Prot
  Q7Z7G5 UniProtKB/Swiss-Prot
  Q7Z7G6 UniProtKB/Swiss-Prot
  Q7Z7G7 UniProtKB/Swiss-Prot
  Q8NB77 UniProtKB/Swiss-Prot
  Q9NWV1 UniProtKB/Swiss-Prot
  Q9Y4E7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 VPS13B  vacuolar protein sorting 13 homolog B  VPS13B  vacuolar protein sorting 13 homolog B (yeast)  Symbol and/or name change 5135510 APPROVED