SH3PXD2B (SH3 and PX domains 2B) - Rat Genome Database

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Gene: SH3PXD2B (SH3 and PX domains 2B) Homo sapiens
Analyze
Symbol: SH3PXD2B
Name: SH3 and PX domains 2B
RGD ID: 1349978
HGNC Page HGNC:29242
Description: Predicted to enable SH2 domain binding activity; phosphatidylinositol phosphate binding activity; and superoxide-generating NADPH oxidase activator activity. Involved in several processes, including bone development; extracellular matrix disassembly; and superoxide metabolic process. Predicted to be located in podosome. Predicted to be active in cytoplasm. Implicated in Frank-Ter Haar syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adapter protein HOFI; adaptor protein HOFI; factor for adipocyte differentiation 49; FAD49; FLJ20831; FTHS; HOFI; KIAA1295; SH3 and PX domain-containing protein 2B; TKS4; TSK4; tyrosine kinase substrate with four SH3 domains
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
GRCh385172,325,181 - 172,454,525 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5172,325,000 - 172,454,525 (-)EnsemblGRCh38hg38GRCh38
GRCh375171,752,185 - 171,881,529 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365171,693,108 - 171,814,132 (-)NCBINCBI36Build 36hg18NCBI36
Celera5167,792,626 - 167,913,367 (-)NCBICelera
Cytogenetic Map5q35.1NCBI
HuRef5166,855,971 - 166,956,421 (-)NCBIHuRef
CHM1_15171,193,488 - 171,314,268 (-)NCBICHM1_1
T2T-CHM13v2.05172,865,440 - 172,994,533 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
anchoring junction  (IEA)
cell projection  (IEA)
cytoplasm  (IBA,IEA,ISS)
podosome  (IEA,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal metacarpal morphology  (IAGP)
Abnormally large globe  (IAGP)
Acne  (IAGP)
Anterior concavity of thoracic vertebrae  (IAGP)
Anteverted nares  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Beaking of vertebral bodies  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad alveolar ridges  (IAGP)
Broad clavicles  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Buphthalmos  (IAGP)
Cafe-au-lait spot  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Cortical irregularity  (IAGP)
Deeply set eye  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed eruption of teeth  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental glaucoma  (IAGP)
Double outlet right ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Enlarged cisterna magna  (IAGP)
Flared metaphysis  (IAGP)
Flat occiput  (IAGP)
Full cheeks  (IAGP)
Genu recurvatum  (IAGP)
Gingival overgrowth  (IAGP)
Growth delay  (IAGP)
Gynecomastia  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hip dysplasia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Low-set ears  (IAGP)
Mandibular prognathia  (IAGP)
Megalocornea  (IAGP)
Metatarsus adductus  (IAGP)
Micrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Neonatal onset  (IAGP)
Osteolysis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Patent foramen ovale  (IAGP)
Pectus excavatum  (IAGP)
Premature loss of teeth  (IAGP)
Prominent coccyx  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Redundant neck skin  (IAGP)
Scoliosis  (IAGP)
Secundum atrial septal defect  (IAGP)
Short long bone  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short philtrum  (IAGP)
Simple ear  (IAGP)
Talipes equinovarus  (IAGP)
Thick vermilion border  (IAGP)
Thickened skin  (IAGP)
Thin upper lip vermilion  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Wide anterior fontanel  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wormian bones  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10718198   PMID:11181995   PMID:14702039   PMID:18959745   PMID:19144821   PMID:19228371   PMID:19490893   PMID:19531213   PMID:19755707   PMID:19755710   PMID:19807924   PMID:20137777  
PMID:20379614   PMID:20609497   PMID:20943948   PMID:21453629   PMID:21706016   PMID:21873635   PMID:21886807   PMID:22260678   PMID:22509100   PMID:22829589   PMID:22939629   PMID:23140272  
PMID:23383108   PMID:24105366   PMID:24598923   PMID:25133637   PMID:25468996   PMID:25921289   PMID:26183326   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27802184   PMID:28514442  
PMID:28718761   PMID:29100834   PMID:29507755   PMID:29928795   PMID:30021884   PMID:30940648   PMID:30962481   PMID:31591456   PMID:31671862   PMID:32665550   PMID:32687490   PMID:32807901  
PMID:33417871   PMID:33961781   PMID:34079125   PMID:35384245   PMID:35439318   PMID:35748872   PMID:35831314   PMID:36215168   PMID:36232890   PMID:36634849   PMID:36674824   PMID:36931259  
PMID:37211344   PMID:37433992   PMID:37774976   PMID:37894817   PMID:38280479   PMID:38672463   PMID:38943005   PMID:38985526  


Genomics

Comparative Map Data
SH3PXD2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385172,325,181 - 172,454,525 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5172,325,000 - 172,454,525 (-)EnsemblGRCh38hg38GRCh38
GRCh375171,752,185 - 171,881,529 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365171,693,108 - 171,814,132 (-)NCBINCBI36Build 36hg18NCBI36
Celera5167,792,626 - 167,913,367 (-)NCBICelera
Cytogenetic Map5q35.1NCBI
HuRef5166,855,971 - 166,956,421 (-)NCBIHuRef
CHM1_15171,193,488 - 171,314,268 (-)NCBICHM1_1
T2T-CHM13v2.05172,865,440 - 172,994,533 (-)NCBIT2T-CHM13v2.0
Sh3pxd2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391132,297,777 - 32,378,189 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1132,297,820 - 32,378,173 (+)EnsemblGRCm39 Ensembl
GRCm381132,347,773 - 32,428,189 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1132,347,820 - 32,428,173 (+)EnsemblGRCm38mm10GRCm38
MGSCv371132,247,811 - 32,328,183 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361132,247,811 - 32,328,183 (+)NCBIMGSCv36mm8
Celera1134,765,291 - 34,845,918 (+)NCBICelera
Cytogenetic Map11A4NCBI
cM Map1118.89NCBI
Sh3pxd2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81017,422,906 - 17,538,977 (+)NCBIGRCr8
mRatBN7.21016,918,611 - 17,027,499 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1016,918,679 - 17,005,170 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1021,668,750 - 21,754,134 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01021,157,348 - 21,242,732 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01016,646,426 - 16,733,437 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01017,209,152 - 17,296,449 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1017,209,212 - 17,291,876 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01017,104,796 - 17,192,048 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41017,184,256 - 17,265,186 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1016,569,377 - 16,655,161 (+)NCBICelera
Cytogenetic Map10q12NCBI
Sh3pxd2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540825,103,278 - 25,170,003 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540825,103,278 - 25,169,934 (-)NCBIChiLan1.0ChiLan1.0
SH3PXD2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24167,466,205 - 167,595,920 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15165,605,597 - 165,735,443 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05167,678,633 - 167,807,960 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15174,599,996 - 174,719,951 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5174,591,759 - 174,719,957 (-)Ensemblpanpan1.1panPan2
SH3PXD2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1439,854,213 - 39,950,704 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl439,854,211 - 39,949,958 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha439,798,319 - 39,901,983 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0440,225,207 - 40,326,590 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl440,225,205 - 40,322,450 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1440,040,426 - 40,144,103 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0440,229,786 - 40,330,413 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0440,740,272 - 40,843,969 (+)NCBIUU_Cfam_GSD_1.0
Sh3pxd2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721394,204,073 - 94,256,232 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366092,926,771 - 2,978,914 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366092,934,814 - 2,975,111 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH3PXD2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1651,733,135 - 51,858,772 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11651,733,170 - 51,858,774 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21656,105,843 - 56,228,717 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SH3PXD2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12374,498,389 - 74,613,296 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2374,498,381 - 74,613,123 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660344,001,985 - 4,124,148 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sh3pxd2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473317,577,336 - 17,688,155 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473317,577,262 - 17,686,212 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SH3PXD2B
537 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001017995.3(SH3PXD2B):c.2618G>C (p.Gly873Ala) single nucleotide variant not provided [RCV000520948] Chr5:172338487 [GRCh38]
Chr5:171765491 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter) duplication Frank-Ter Haar syndrome [RCV000000211] Chr5:172422424..172422425 [GRCh38]
Chr5:171849428..171849429 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) deletion Frank-Ter Haar syndrome [RCV000000212] Chr5:172350406 [GRCh38]
Chr5:171777410 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) single nucleotide variant Frank-Ter Haar syndrome [RCV000000213] Chr5:172422445 [GRCh38]
Chr5:171849449 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_001017995.3(SH3PXD2B):c.76-2A>C single nucleotide variant Frank-Ter Haar syndrome [RCV000000214] Chr5:172422498 [GRCh38]
Chr5:171849502 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) single nucleotide variant not provided [RCV000728032] Chr5:172338564 [GRCh38]
Chr5:171765568 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.2569G>T (p.Ala857Ser) single nucleotide variant not provided [RCV000728915] Chr5:172338536 [GRCh38]
Chr5:171765540 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1685C>A (p.Pro562Gln) single nucleotide variant not provided [RCV000729128] Chr5:172339420 [GRCh38]
Chr5:171766424 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.401+1G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000201206] Chr5:172382035 [GRCh38]
Chr5:171809039 [GRCh37]
Chr5:5q35.1		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
NM_001017995.2(SH3PXD2B):c.2242C>T (p.Gln748Ter) single nucleotide variant Malignant melanoma [RCV000061211] Chr5:172338863 [GRCh38]
Chr5:171765867 [GRCh37]
Chr5:171698472 [NCBI36]
Chr5:5q35.1		 not provided
NM_001017995.3(SH3PXD2B):c.1063-8C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000313850]|not provided [RCV000946900]|not specified [RCV000174265] Chr5:172346269 [GRCh38]
Chr5:171773273 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.1063-9T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000368794]|not provided [RCV000946901]|not specified [RCV000174266] Chr5:172346270 [GRCh38]
Chr5:171773274 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT indel not provided [RCV000174264] Chr5:172346269..172346270 [GRCh38]
Chr5:171773273..171773274 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=) single nucleotide variant not provided [RCV000174499] Chr5:172339683 [GRCh38]
Chr5:171766687 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) single nucleotide variant Frank-Ter Haar syndrome [RCV001155394]|not provided [RCV000174500]|not specified [RCV003317126] Chr5:172339814 [GRCh38]
Chr5:171766818 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
NM_001017995.3(SH3PXD2B):c.785+4C>G single nucleotide variant not provided [RCV000180540] Chr5:172353884 [GRCh38]
Chr5:171780888 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.*3365A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000264712] Chr5:172335004 [GRCh38]
Chr5:171762008 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1983C>T (p.Val661=) single nucleotide variant Frank-Ter Haar syndrome [RCV000261546]|not provided [RCV000956353] Chr5:172339122 [GRCh38]
Chr5:171766126 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*2438A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000261480] Chr5:172335931 [GRCh38]
Chr5:171762935 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*958G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000265614] Chr5:172337411 [GRCh38]
Chr5:171764415 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.885G>A (p.Pro295=) single nucleotide variant Frank-Ter Haar syndrome [RCV000259531]|not provided [RCV001473317] Chr5:172350490 [GRCh38]
Chr5:171777494 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.2456G>A (p.Arg819Gln) single nucleotide variant Frank-Ter Haar syndrome [RCV000370035]|not provided [RCV000350642] Chr5:172338649 [GRCh38]
Chr5:171765653 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2190G>A (p.Pro730=) single nucleotide variant not provided [RCV002104942] Chr5:172338915 [GRCh38]
Chr5:171765919 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=) single nucleotide variant Frank-Ter Haar syndrome [RCV000351031]|not provided [RCV001519844]|not specified [RCV000246033] Chr5:172422467 [GRCh38]
Chr5:171849471 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*624A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000278805] Chr5:172337745 [GRCh38]
Chr5:171764749 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*4804T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000285385] Chr5:172333565 [GRCh38]
Chr5:171760569 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*4665_*4668del deletion Frank-Ter Haar syndrome [RCV000279648] Chr5:172333701..172333704 [GRCh38]
Chr5:171760705..171760708 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3119T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000281140] Chr5:172335250 [GRCh38]
Chr5:171762254 [GRCh37]
Chr5:5q35.1		 benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) single nucleotide variant Frank-Ter Haar syndrome [RCV001151635]|not provided [RCV000961681]|not specified [RCV000246154] Chr5:172350532 [GRCh38]
Chr5:171777536 [GRCh37]
Chr5:5q35.1		 benign|likely benign
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_001017995.3(SH3PXD2B):c.2544C>T (p.Asp848=) single nucleotide variant Frank-Ter Haar syndrome [RCV000269536]|not provided [RCV003766031] Chr5:172338561 [GRCh38]
Chr5:171765565 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.563-11T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000265553]|not provided [RCV000836696]|not specified [RCV000254344] Chr5:172358888 [GRCh38]
Chr5:171785892 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*843G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000271555] Chr5:172337526 [GRCh38]
Chr5:171764530 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.2395C>T (p.Leu799Phe) single nucleotide variant Frank-Ter Haar syndrome [RCV000275514]|Inborn genetic diseases [RCV004659013]|not provided [RCV002520354] Chr5:172338710 [GRCh38]
Chr5:171765714 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*708G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000277360] Chr5:172337661 [GRCh38]
Chr5:171764665 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1062+15G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000394886]|not provided [RCV000514500]|not specified [RCV000250788] Chr5:172347268 [GRCh38]
Chr5:171774272 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*2066G>T single nucleotide variant Frank-Ter Haar syndrome [RCV000267249] Chr5:172336303 [GRCh38]
Chr5:171763307 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1839dup duplication Frank-Ter Haar syndrome [RCV000273145] Chr5:172336529..172336530 [GRCh38]
Chr5:171763533..171763534 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.-67C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000298426]|not provided [RCV001643070] Chr5:172454419 [GRCh38]
Chr5:171881423 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*707C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000332297] Chr5:172337662 [GRCh38]
Chr5:171764666 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1511A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000352567] Chr5:172336858 [GRCh38]
Chr5:171763862 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*636G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000373323] Chr5:172337733 [GRCh38]
Chr5:171764737 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*294C>A single nucleotide variant Frank-Ter Haar syndrome [RCV000396916] Chr5:172338075 [GRCh38]
Chr5:171765079 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*4420A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000397216] Chr5:172333949 [GRCh38]
Chr5:171760953 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1253A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000299584] Chr5:172337116 [GRCh38]
Chr5:171764120 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*4035G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000314840] Chr5:172334334 [GRCh38]
Chr5:171761338 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.-79C>A single nucleotide variant Frank-Ter Haar syndrome [RCV000353640]|not provided [RCV001547134] Chr5:172454431 [GRCh38]
Chr5:171881435 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser) single nucleotide variant Frank-Ter Haar syndrome [RCV000301120]|not provided [RCV000923263] Chr5:172350378 [GRCh38]
Chr5:171777382 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) single nucleotide variant Frank-Ter Haar syndrome [RCV000315417]|not provided [RCV000428801] Chr5:172338628 [GRCh38]
Chr5:171765632 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*3273G>T single nucleotide variant Frank-Ter Haar syndrome [RCV000316206] Chr5:172335096 [GRCh38]
Chr5:171762100 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*1246G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000335857] Chr5:172337123 [GRCh38]
Chr5:171764127 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2032G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000376916] Chr5:172336337 [GRCh38]
Chr5:171763341 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*957C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000302046] Chr5:172337412 [GRCh38]
Chr5:171764416 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=) single nucleotide variant Frank-Ter Haar syndrome [RCV000355956]|SH3PXD2B-related disorder [RCV003972480]|not provided [RCV002061275] Chr5:172350379 [GRCh38]
Chr5:171777383 [GRCh37]
Chr5:5q35.1		 benign|likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.1956G>A (p.Thr652=) single nucleotide variant Frank-Ter Haar syndrome [RCV000317906]|not provided [RCV001320968] Chr5:172339149 [GRCh38]
Chr5:171766153 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*4561G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000337175] Chr5:172333808 [GRCh38]
Chr5:171760812 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*636G>T single nucleotide variant Frank-Ter Haar syndrome [RCV000338140] Chr5:172337733 [GRCh38]
Chr5:171764737 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=) single nucleotide variant Frank-Ter Haar syndrome [RCV000357494]|SH3PXD2B-related disorder [RCV003957821]|not provided [RCV002061274] Chr5:172338981 [GRCh38]
Chr5:171765985 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*1271_*1272insG insertion Frank-Ter Haar syndrome [RCV000403081] Chr5:172337097..172337098 [GRCh38]
Chr5:171764101..171764102 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.76-4G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000402866]|not provided [RCV001861253] Chr5:172422500 [GRCh38]
Chr5:171849504 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*571C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000403458] Chr5:172337798 [GRCh38]
Chr5:171764802 [GRCh37]
Chr5:5q35.1		 benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) single nucleotide variant Frank-Ter Haar syndrome [RCV000287251]|not provided [RCV000958833] Chr5:172339467 [GRCh38]
Chr5:171766471 [GRCh37]
Chr5:5q35.1		 benign|likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*3277T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000287100] Chr5:172335092 [GRCh38]
Chr5:171762096 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.1188+13G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000289333]|not provided [RCV002058524] Chr5:172346123 [GRCh38]
Chr5:171773127 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.-40C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000338083] Chr5:172454392 [GRCh38]
Chr5:171881396 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3006C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000338494] Chr5:172335363 [GRCh38]
Chr5:171762367 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*2543A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000358663] Chr5:172335826 [GRCh38]
Chr5:171762830 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*754G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000381176] Chr5:172337615 [GRCh38]
Chr5:171764619 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.427+14C>G single nucleotide variant Frank-Ter Haar syndrome [RCV000381237]|not provided [RCV002061276] Chr5:172373776 [GRCh38]
Chr5:171800780 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.1063-7G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000404132]|not provided [RCV001472712] Chr5:172346268 [GRCh38]
Chr5:171773272 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*1607A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000288237] Chr5:172336762 [GRCh38]
Chr5:171763766 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.522C>T (p.Ser174=) single nucleotide variant Frank-Ter Haar syndrome [RCV000320682]|not provided [RCV001511490] Chr5:172362775 [GRCh38]
Chr5:171789779 [GRCh37]
Chr5:5q35.1		 benign|likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*4827T>A single nucleotide variant Frank-Ter Haar syndrome [RCV000320658] Chr5:172333542 [GRCh38]
Chr5:171760546 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*306C>A single nucleotide variant Frank-Ter Haar syndrome [RCV000339752] Chr5:172338063 [GRCh38]
Chr5:171765067 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*4828del deletion Frank-Ter Haar syndrome [RCV000382501] Chr5:172333541 [GRCh38]
Chr5:171760545 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*1683T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000382576] Chr5:172336686 [GRCh38]
Chr5:171763690 [GRCh37]
Chr5:5q35.1		 benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.1284G>C (p.Thr428=) single nucleotide variant Frank-Ter Haar syndrome [RCV000405213]|not provided [RCV001511718] Chr5:172339821 [GRCh38]
Chr5:171766825 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.-56C>G single nucleotide variant Frank-Ter Haar syndrome [RCV000406028]|not provided [RCV001672661] Chr5:172454408 [GRCh38]
Chr5:171881412 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*4828T>A single nucleotide variant Frank-Ter Haar syndrome [RCV000290509] Chr5:172333541 [GRCh38]
Chr5:171760545 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*1159C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000305478] Chr5:172337210 [GRCh38]
Chr5:171764214 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*3363T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000322161] Chr5:172335006 [GRCh38]
Chr5:171762010 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2057T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000322402] Chr5:172336312 [GRCh38]
Chr5:171763316 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.453C>T (p.Pro151=) single nucleotide variant Frank-Ter Haar syndrome [RCV000384611]|SH3PXD2B-related disorder [RCV003932449]|not provided [RCV002058525] Chr5:172362844 [GRCh38]
Chr5:171789848 [GRCh37]
Chr5:5q35.1		 benign|likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*4736A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000342733] Chr5:172333633 [GRCh38]
Chr5:171760637 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3936G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000362506] Chr5:172334433 [GRCh38]
Chr5:171761437 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.66C>T (p.Asn22=) single nucleotide variant Frank-Ter Haar syndrome [RCV000292463]|not provided [RCV003114508] Chr5:172454287 [GRCh38]
Chr5:171881291 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*642C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000292553] Chr5:172337727 [GRCh38]
Chr5:171764731 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*2798T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000307320] Chr5:172335571 [GRCh38]
Chr5:171762575 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) single nucleotide variant Frank-Ter Haar syndrome [RCV000324096]|not provided [RCV001522022]|not specified [RCV001723952] Chr5:172350491 [GRCh38]
Chr5:171777495 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*14T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000364212]|not provided [RCV001662324] Chr5:172338355 [GRCh38]
Chr5:171765359 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*2783A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000364299] Chr5:172335586 [GRCh38]
Chr5:171762590 [GRCh37]
Chr5:5q35.1		 benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*1430G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000388190] Chr5:172336939 [GRCh38]
Chr5:171763943 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1429C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000294114] Chr5:172336940 [GRCh38]
Chr5:171763944 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*235T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000309355] Chr5:172338134 [GRCh38]
Chr5:171765138 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*789T>A single nucleotide variant Frank-Ter Haar syndrome [RCV000326579] Chr5:172337580 [GRCh38]
Chr5:171764584 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*4283G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000367986] Chr5:172334086 [GRCh38]
Chr5:171761090 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2596A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000310885] Chr5:172335773 [GRCh38]
Chr5:171762777 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*3815del deletion Frank-Ter Haar syndrome [RCV000327537] Chr5:172334554 [GRCh38]
Chr5:171761558 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*1750T>C single nucleotide variant Frank-Ter Haar syndrome [RCV000328051] Chr5:172336619 [GRCh38]
Chr5:171763623 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.1326C>A (p.His442Gln) single nucleotide variant Frank-Ter Haar syndrome [RCV000348060] Chr5:172339779 [GRCh38]
Chr5:171766783 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.232+4G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000296190]|not provided [RCV000958574] Chr5:172406273 [GRCh38]
Chr5:171833277 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*4328C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000310923] Chr5:172334041 [GRCh38]
Chr5:171761045 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1215A>G single nucleotide variant Frank-Ter Haar syndrome [RCV000393223] Chr5:172337154 [GRCh38]
Chr5:171764158 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) single nucleotide variant Frank-Ter Haar syndrome [RCV000330657]|SH3PXD2B-related disorder [RCV003902366]|not provided [RCV000899923]|not specified [RCV003317197] Chr5:172338878 [GRCh38]
Chr5:171765882 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*2676G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000395398] Chr5:172335693 [GRCh38]
Chr5:171762697 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2930dup duplication Frank-Ter Haar syndrome [RCV000351430] Chr5:172335438..172335439 [GRCh38]
Chr5:171762442..171762443 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) single nucleotide variant Frank-Ter Haar syndrome [RCV000372512]|SH3PXD2B-related disorder [RCV003912504]|not provided [RCV000946899]|not specified [RCV000596608] Chr5:172339393 [GRCh38]
Chr5:171766397 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*3202C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000373189] Chr5:172335167 [GRCh38]
Chr5:171762171 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*2885A>T single nucleotide variant Frank-Ter Haar syndrome [RCV000395393] Chr5:172335484 [GRCh38]
Chr5:171762488 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3935C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000270239] Chr5:172334434 [GRCh38]
Chr5:171761438 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1472G>A (p.Ser491Asn) single nucleotide variant Frank-Ter Haar syndrome [RCV000283604] Chr5:172339633 [GRCh38]
Chr5:171766637 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) single nucleotide variant Frank-Ter Haar syndrome [RCV001154553]|SH3PXD2B-related disorder [RCV003910020]|not provided [RCV000316877] Chr5:172339503 [GRCh38]
Chr5:171766507 [GRCh37]
Chr5:5q35.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.2392CTC[1] (p.Leu799del) microsatellite not provided [RCV000350399] Chr5:172338708..172338710 [GRCh38]
Chr5:171765712..171765714 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1102del (p.Gln368fs) deletion not provided [RCV000387121] Chr5:172346222 [GRCh38]
Chr5:171773226 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.846del (p.Leu283fs) deletion not provided [RCV000357597] Chr5:172350529 [GRCh38]
Chr5:171777533 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) single nucleotide variant not provided [RCV000395585] Chr5:172339707 [GRCh38]
Chr5:171766711 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) microsatellite not provided [RCV000421697]|not specified [RCV000407673] Chr5:172339476..172339481 [GRCh38]
Chr5:171766480..171766485 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.212G>A (p.Arg71Gln) single nucleotide variant Inborn genetic diseases [RCV004659066]|not provided [RCV000489164] Chr5:172406297 [GRCh38]
Chr5:171833301 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.2005A>G (p.Lys669Glu) single nucleotide variant Inborn genetic diseases [RCV003244743] Chr5:172339100 [GRCh38]
Chr5:171766104 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*323C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000303549] Chr5:172338046 [GRCh38]
Chr5:171765050 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2309A>T single nucleotide variant Frank-Ter Haar syndrome [RCV000316661] Chr5:172336060 [GRCh38]
Chr5:171763064 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2956G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000294290] Chr5:172335413 [GRCh38]
Chr5:171762417 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1346G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000349031] Chr5:172337023 [GRCh38]
Chr5:171764027 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3621G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000365893] Chr5:172334748 [GRCh38]
Chr5:171761752 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*861C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000366116] Chr5:172337508 [GRCh38]
Chr5:171764512 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*4693C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000403508] Chr5:172333676 [GRCh38]
Chr5:171760680 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2991T>G single nucleotide variant Frank-Ter Haar syndrome [RCV000405085] Chr5:172335378 [GRCh38]
Chr5:171762382 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*652_*654dup duplication Frank-Ter Haar syndrome [RCV000386846] Chr5:172337714..172337715 [GRCh38]
Chr5:171764718..171764719 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1554G>A (p.Glu518=) single nucleotide variant Frank-Ter Haar syndrome [RCV000323617] Chr5:172339551 [GRCh38]
Chr5:171766555 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*4828dup duplication Frank-Ter Haar syndrome [RCV000325536] Chr5:172333540..172333541 [GRCh38]
Chr5:171760544..171760545 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.450C>T (p.Asp150=) single nucleotide variant Frank-Ter Haar syndrome [RCV000289815]|not provided [RCV002520355] Chr5:172362847 [GRCh38]
Chr5:171789851 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*589C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000343199] Chr5:172337780 [GRCh38]
Chr5:171764784 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1125G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000360301] Chr5:172337244 [GRCh38]
Chr5:171764248 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.667+14C>A single nucleotide variant Frank-Ter Haar syndrome [RCV000360198] Chr5:172358759 [GRCh38]
Chr5:171785763 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*4805G>A single nucleotide variant Frank-Ter Haar syndrome [RCV000377596] Chr5:172333564 [GRCh38]
Chr5:171760568 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1126A>G (p.Ile376Val) single nucleotide variant Frank-Ter Haar syndrome [RCV000344344] Chr5:172346198 [GRCh38]
Chr5:171773202 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3359C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000379185] Chr5:172335010 [GRCh38]
Chr5:171762014 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*4079C>T single nucleotide variant Frank-Ter Haar syndrome [RCV000397209] Chr5:172334290 [GRCh38]
Chr5:171761294 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu) single nucleotide variant Frank-Ter Haar syndrome [RCV000764589]|Inborn genetic diseases [RCV004024825]|SH3PXD2B-related disorder [RCV004757260]|not provided [RCV000591785] Chr5:172338916 [GRCh38]
Chr5:171765920 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) single nucleotide variant SH3PXD2B-related disorder [RCV003900351]|not provided [RCV000592872] Chr5:172339563 [GRCh38]
Chr5:171766567 [GRCh37]
Chr5:5q35.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.1342C>T (p.Arg448Trp) single nucleotide variant Inborn genetic diseases [RCV002532434]|not provided [RCV000593029] Chr5:172339763 [GRCh38]
Chr5:171766767 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) single nucleotide variant Frank-Ter Haar syndrome [RCV000764590]|not provided [RCV000594287] Chr5:172339012 [GRCh38]
Chr5:171766016 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) single nucleotide variant Inborn genetic diseases [RCV003279033]|SH3PXD2B-related disorder [RCV003980367]|not provided [RCV000728794] Chr5:172353975 [GRCh38]
Chr5:171780979 [GRCh37]
Chr5:5q35.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) single nucleotide variant Inborn genetic diseases [RCV003279034]|SH3PXD2B-related disorder [RCV003938098]|not provided [RCV000728796] Chr5:172339150 [GRCh38]
Chr5:171766154 [GRCh37]
Chr5:5q35.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1 copy number loss See cases [RCV000447112] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001017995.3(SH3PXD2B):c.1229T>C (p.Ile410Thr) single nucleotide variant Inborn genetic diseases [RCV003256835] Chr5:172339876 [GRCh38]
Chr5:171766880 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.250C>T (p.Arg84Ter) single nucleotide variant not provided [RCV000513982] Chr5:172394622 [GRCh38]
Chr5:171821626 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.2404C>T (p.Pro802Ser) single nucleotide variant Inborn genetic diseases [RCV003282447] Chr5:172338701 [GRCh38]
Chr5:171765705 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1063-7G>T single nucleotide variant Frank-Ter Haar syndrome [RCV001157078]|not provided [RCV000596320] Chr5:172346268 [GRCh38]
Chr5:171773272 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln) single nucleotide variant Frank-Ter Haar syndrome [RCV000660439]|not provided [RCV001861719] Chr5:172339702 [GRCh38]
Chr5:171766706 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
NM_001017995.3(SH3PXD2B):c.2128C>G (p.Gln710Glu) single nucleotide variant not provided [RCV000895787] Chr5:172338977 [GRCh38]
Chr5:171765981 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.668-125del deletion not provided [RCV001541720] Chr5:172354130 [GRCh38]
Chr5:171781134 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.785+264G>A single nucleotide variant not provided [RCV001644231] Chr5:172353624 [GRCh38]
Chr5:171780628 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.157-116G>A single nucleotide variant not provided [RCV001612368] Chr5:172406468 [GRCh38]
Chr5:171833472 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1063-80C>G single nucleotide variant not provided [RCV001690302] Chr5:172346341 [GRCh38]
Chr5:171773345 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.563-265C>G single nucleotide variant not provided [RCV001583547] Chr5:172359142 [GRCh38]
Chr5:171786146 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.427+41G>A single nucleotide variant not provided [RCV001551218] Chr5:172373749 [GRCh38]
Chr5:171800753 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.309+167_309+170del microsatellite not provided [RCV001709947] Chr5:172394393..172394396 [GRCh38]
Chr5:171821397..171821400 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.402-204G>A single nucleotide variant not provided [RCV001581825] Chr5:172374019 [GRCh38]
Chr5:171801023 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1050G>A (p.Arg350=) single nucleotide variant not provided [RCV000906097] Chr5:172347295 [GRCh38]
Chr5:171774299 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=) single nucleotide variant Frank-Ter Haar syndrome [RCV001154555]|not provided [RCV000901409] Chr5:172339593 [GRCh38]
Chr5:171766597 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.970C>T (p.Arg324Trp) single nucleotide variant not provided [RCV000881376] Chr5:172350405 [GRCh38]
Chr5:171777409 [GRCh37]
Chr5:5q35.1		 likely benign|conflicting interpretations of pathogenicity
NM_001017995.3(SH3PXD2B):c.2398G>A (p.Val800Ile) single nucleotide variant Inborn genetic diseases [RCV002548373]|SH3PXD2B-related disorder [RCV003953326]|not provided [RCV000973378] Chr5:172338707 [GRCh38]
Chr5:171765711 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.1344G>T (p.Arg448=) single nucleotide variant not provided [RCV000888416] Chr5:172339761 [GRCh38]
Chr5:171766765 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.612G>A (p.Thr204=) single nucleotide variant not provided [RCV000965199] Chr5:172358828 [GRCh38]
Chr5:171785832 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1089G>A (p.Pro363=) single nucleotide variant not provided [RCV000965198] Chr5:172346235 [GRCh38]
Chr5:171773239 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1013-10T>G single nucleotide variant not provided [RCV000939562] Chr5:172347342 [GRCh38]
Chr5:171774346 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1998C>G (p.Leu666=) single nucleotide variant not provided [RCV000980923] Chr5:172339107 [GRCh38]
Chr5:171766111 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.667+9G>C single nucleotide variant not provided [RCV000904565] Chr5:172358764 [GRCh38]
Chr5:171785768 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1860T>C (p.Thr620=) single nucleotide variant not provided [RCV000896505] Chr5:172339245 [GRCh38]
Chr5:171766249 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1887C>T (p.Ala629=) single nucleotide variant not provided [RCV000925717] Chr5:172339218 [GRCh38]
Chr5:171766222 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2018C>T (p.Ala673Val) single nucleotide variant not provided [RCV000896886] Chr5:172339087 [GRCh38]
Chr5:171766091 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1284G>A (p.Thr428=) single nucleotide variant not provided [RCV000894956] Chr5:172339821 [GRCh38]
Chr5:171766825 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1128C>T (p.Ile376=) single nucleotide variant not provided [RCV000914870] Chr5:172346196 [GRCh38]
Chr5:171773200 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.884C>T (p.Pro295Leu) single nucleotide variant not provided [RCV000998492] Chr5:172350491 [GRCh38]
Chr5:171777495 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) single nucleotide variant Frank-Ter Haar syndrome [RCV000985041]|not provided [RCV003232168] Chr5:172339427 [GRCh38]
Chr5:171766431 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3114A>G single nucleotide variant Frank-Ter Haar syndrome [RCV001151185] Chr5:172335255 [GRCh38]
Chr5:171762259 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) single nucleotide variant Frank-Ter Haar syndrome [RCV001151545]|SH3PXD2B-related disorder [RCV003938519]|not provided [RCV001510652] Chr5:172339433 [GRCh38]
Chr5:171766437 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.899T>C (p.Leu300Ser) single nucleotide variant Frank-Ter Haar syndrome [RCV001151634] Chr5:172350476 [GRCh38]
Chr5:171777480 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2826G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001151187] Chr5:172335543 [GRCh38]
Chr5:171762547 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1913C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001151308] Chr5:172336456 [GRCh38]
Chr5:171763460 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1862G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001151310] Chr5:172336507 [GRCh38]
Chr5:171763511 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*698C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001151435] Chr5:172337671 [GRCh38]
Chr5:171764675 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.10:g.172358888A>G single nucleotide variant not provided [RCV000836696] Chr5:171785892 [GRCh37]
Chr5:5q35.1		 benign
GRCh37/hg19 5q35.1(chr5:171171671-172022583)x1 copy number loss not provided [RCV000845589] Chr5:171171671..172022583 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2592C>A (p.Asp864Glu) single nucleotide variant Frank-Ter Haar syndrome [RCV001331474]|not provided [RCV001171971] Chr5:172338513 [GRCh38]
Chr5:171765517 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 copy number loss Atrial septal defect 7 [RCV000853560] Chr5:166421173..173324843 [GRCh37]
Chr5:5q34-35.2		 pathogenic
NM_001017995.3(SH3PXD2B):c.1883A>T (p.Asp628Val) single nucleotide variant Inborn genetic diseases [RCV003241266] Chr5:172339222 [GRCh38]
Chr5:171766226 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*877G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001156858] Chr5:172337492 [GRCh38]
Chr5:171764496 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2487C>T (p.Thr829=) single nucleotide variant Frank-Ter Haar syndrome [RCV001156968]|not provided [RCV002070930] Chr5:172338618 [GRCh38]
Chr5:171765622 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.2374C>T (p.Pro792Ser) single nucleotide variant Frank-Ter Haar syndrome [RCV001156970] Chr5:172338731 [GRCh38]
Chr5:171765735 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3989G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001154145] Chr5:172334380 [GRCh38]
Chr5:171761384 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=) single nucleotide variant Frank-Ter Haar syndrome [RCV001154554]|not provided [RCV003546663] Chr5:172339509 [GRCh38]
Chr5:171766513 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*2592G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001155098] Chr5:172335777 [GRCh38]
Chr5:171762781 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*1379T>C single nucleotide variant Frank-Ter Haar syndrome [RCV001155199] Chr5:172336990 [GRCh38]
Chr5:171763994 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=) single nucleotide variant Frank-Ter Haar syndrome [RCV001155393]|SH3PXD2B-related disorder [RCV003918744]|not provided [RCV002070907] Chr5:172339779 [GRCh38]
Chr5:171766783 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.233-14C>G single nucleotide variant Frank-Ter Haar syndrome [RCV001155511]|not provided [RCV003769745] Chr5:172394653 [GRCh38]
Chr5:171821657 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu) single nucleotide variant Frank-Ter Haar syndrome [RCV001151630]|not provided [RCV001522021]|not specified [RCV001724257] Chr5:172350389 [GRCh38]
Chr5:171777393 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.2396_2405dup (p.Lys803fs) duplication not provided [RCV003104752] Chr5:172338699..172338700 [GRCh38]
Chr5:171765703..171765704 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.667+75T>C single nucleotide variant not provided [RCV001690309] Chr5:172358698 [GRCh38]
Chr5:171785702 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1188+251A>G single nucleotide variant not provided [RCV001638910] Chr5:172345885 [GRCh38]
Chr5:171772889 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1188+253C>T single nucleotide variant not provided [RCV001681243] Chr5:172345883 [GRCh38]
Chr5:171772887 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.76-153T>G single nucleotide variant not provided [RCV001639199] Chr5:172422649 [GRCh38]
Chr5:171849653 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.75+276T>C single nucleotide variant not provided [RCV001687254] Chr5:172454002 [GRCh38]
Chr5:171881006 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.786-341G>T single nucleotide variant not provided [RCV001654408] Chr5:172350930 [GRCh38]
Chr5:171777934 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.427+170GATG[12] microsatellite not provided [RCV001557624] Chr5:172373580..172373581 [GRCh38]
Chr5:171800584..171800585 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.402-78T>C single nucleotide variant not provided [RCV001620347] Chr5:172373893 [GRCh38]
Chr5:171800897 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.427+170GATG[11] microsatellite not provided [RCV001714743] Chr5:172373580..172373581 [GRCh38]
Chr5:171800584..171800585 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.563-168T>C single nucleotide variant not provided [RCV001710665] Chr5:172359045 [GRCh38]
Chr5:171786049 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.668-124dup duplication not provided [RCV001685668] Chr5:172354122..172354123 [GRCh38]
Chr5:171781126..171781127 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.562+50T>C single nucleotide variant not provided [RCV001559657] Chr5:172362685 [GRCh38]
Chr5:171789689 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1188+81T>G single nucleotide variant not provided [RCV001592757] Chr5:172346055 [GRCh38]
Chr5:171773059 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr) single nucleotide variant not provided [RCV001529784] Chr5:172350561 [GRCh38]
Chr5:171777565 [GRCh37]
Chr5:5q35.1		 benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.2647A>G (p.Ser883Gly) single nucleotide variant Inborn genetic diseases [RCV003169310]|not provided [RCV000919543] Chr5:172338458 [GRCh38]
Chr5:171765462 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1440G>A (p.Ser480=) single nucleotide variant not provided [RCV000926764] Chr5:172339665 [GRCh38]
Chr5:171766669 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala) single nucleotide variant Frank-Ter Haar syndrome [RCV001155392]|Inborn genetic diseases [RCV002550532]|not provided [RCV000975090] Chr5:172339772 [GRCh38]
Chr5:171766776 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*2825C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154253] Chr5:172335544 [GRCh38]
Chr5:171762548 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1478T>C single nucleotide variant Frank-Ter Haar syndrome [RCV001154357] Chr5:172336891 [GRCh38]
Chr5:171763895 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*3358G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001154990] Chr5:172335011 [GRCh38]
Chr5:171762015 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2538T>C single nucleotide variant Frank-Ter Haar syndrome [RCV001155099] Chr5:172335831 [GRCh38]
Chr5:171762835 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*4773G>C single nucleotide variant Frank-Ter Haar syndrome [RCV001156547] Chr5:172333596 [GRCh38]
Chr5:171760600 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*902G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001156857] Chr5:172337467 [GRCh38]
Chr5:171764471 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.-130C>G single nucleotide variant Frank-Ter Haar syndrome [RCV001157191] Chr5:172454482 [GRCh38]
Chr5:171881486 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.-162C>G single nucleotide variant Frank-Ter Haar syndrome [RCV001157192] Chr5:172454514 [GRCh38]
Chr5:171881518 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.-167C>G single nucleotide variant Frank-Ter Haar syndrome [RCV001157193]|not provided [RCV001720278] Chr5:172454519 [GRCh38]
Chr5:171881523 [GRCh37]
Chr5:5q35.1		 benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.2437G>A (p.Gly813Arg) single nucleotide variant not provided [RCV002771037] Chr5:172338668 [GRCh38]
Chr5:171765672 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.402-331A>T single nucleotide variant not provided [RCV001562050] Chr5:172374146 [GRCh38]
Chr5:171801150 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.310-295C>T single nucleotide variant not provided [RCV001557024] Chr5:172382422 [GRCh38]
Chr5:171809426 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.786-309C>A single nucleotide variant not provided [RCV001558752] Chr5:172350898 [GRCh38]
Chr5:171777902 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1188+189G>C single nucleotide variant not provided [RCV001617942] Chr5:172345947 [GRCh38]
Chr5:171772951 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.428-249C>T single nucleotide variant not provided [RCV001659253] Chr5:172363118 [GRCh38]
Chr5:171790122 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.233-28A>G single nucleotide variant not provided [RCV001656973] Chr5:172394667 [GRCh38]
Chr5:171821671 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.401+110G>A single nucleotide variant not provided [RCV001720576] Chr5:172381926 [GRCh38]
Chr5:171808930 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.75+148del deletion not provided [RCV001660909] Chr5:172454130 [GRCh38]
Chr5:171881134 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.310-121C>T single nucleotide variant not provided [RCV001694290] Chr5:172382248 [GRCh38]
Chr5:171809252 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.401+165C>T single nucleotide variant not provided [RCV001617517] Chr5:172381871 [GRCh38]
Chr5:171808875 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*3327A>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154991] Chr5:172335042 [GRCh38]
Chr5:171762046 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2469C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001155100] Chr5:172335900 [GRCh38]
Chr5:171762904 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1199T>C single nucleotide variant Frank-Ter Haar syndrome [RCV001156856]|not provided [RCV004694995] Chr5:172337170 [GRCh38]
Chr5:171764174 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.274G>A (p.Val92Ile) single nucleotide variant Frank-Ter Haar syndrome [RCV001155510] Chr5:172394598 [GRCh38]
Chr5:171821602 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2454G>A (p.Thr818=) single nucleotide variant Frank-Ter Haar syndrome [RCV001156969]|SH3PXD2B-related disorder [RCV003898153]|not provided [RCV001437848] Chr5:172338651 [GRCh38]
Chr5:171765655 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=) single nucleotide variant Frank-Ter Haar syndrome [RCV001157190]|not provided [RCV002557341] Chr5:172454311 [GRCh38]
Chr5:171881315 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*1751T>C single nucleotide variant Frank-Ter Haar syndrome [RCV001151311] Chr5:172336618 [GRCh38]
Chr5:171763622 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*4266G>T single nucleotide variant Frank-Ter Haar syndrome [RCV001152867] Chr5:172334103 [GRCh38]
Chr5:171761107 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3714C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154147] Chr5:172334655 [GRCh38]
Chr5:171761659 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*171G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001155298] Chr5:172338198 [GRCh38]
Chr5:171765202 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*2666G>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154256] Chr5:172335703 [GRCh38]
Chr5:171762707 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*1633C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154356] Chr5:172336736 [GRCh38]
Chr5:171763740 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1610T>G (p.Leu537Arg) single nucleotide variant Frank-Ter Haar syndrome [RCV001154552] Chr5:172339495 [GRCh38]
Chr5:171766499 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3629C>A single nucleotide variant Frank-Ter Haar syndrome [RCV001154149] Chr5:172334740 [GRCh38]
Chr5:171761744 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*2684G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001154255] Chr5:172335685 [GRCh38]
Chr5:171762689 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3643A>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154148] Chr5:172334726 [GRCh38]
Chr5:171761730 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1692G>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154355] Chr5:172336677 [GRCh38]
Chr5:171763681 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1492G>A (p.Ala498Thr) single nucleotide variant Frank-Ter Haar syndrome [RCV001154556]|not provided [RCV001300336] Chr5:172339613 [GRCh38]
Chr5:171766617 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1088C>T (p.Pro363Leu) single nucleotide variant Frank-Ter Haar syndrome [RCV001155395]|Inborn genetic diseases [RCV003363123] Chr5:172346236 [GRCh38]
Chr5:171773240 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.76-162G>A single nucleotide variant not provided [RCV001541562] Chr5:172422658 [GRCh38]
Chr5:171849662 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.233-286C>T single nucleotide variant not provided [RCV001649045] Chr5:172394925 [GRCh38]
Chr5:171821929 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1013-27A>G single nucleotide variant Frank-Ter Haar syndrome [RCV001807467]|not provided [RCV001649127] Chr5:172347359 [GRCh38]
Chr5:171774363 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1063-202A>T single nucleotide variant not provided [RCV001652705] Chr5:172346463 [GRCh38]
Chr5:171773467 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.401+274G>A single nucleotide variant not provided [RCV001714083] Chr5:172381762 [GRCh38]
Chr5:171808766 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.76-275C>T single nucleotide variant not provided [RCV001534287] Chr5:172422771 [GRCh38]
Chr5:171849775 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.427+170GATG[5] microsatellite not provided [RCV001584757] Chr5:172373581..172373600 [GRCh38]
Chr5:171800585..171800604 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.156+131T>C single nucleotide variant not provided [RCV001650402] Chr5:172422285 [GRCh38]
Chr5:171849289 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1062+203C>T single nucleotide variant not provided [RCV001581081] Chr5:172347080 [GRCh38]
Chr5:171774084 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.233-285G>A single nucleotide variant not provided [RCV001710020] Chr5:172394924 [GRCh38]
Chr5:171821928 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*2449G>T single nucleotide variant Frank-Ter Haar syndrome [RCV001155101] Chr5:172335920 [GRCh38]
Chr5:171762924 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*158G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001155299] Chr5:172338211 [GRCh38]
Chr5:171765215 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.427+14C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001155509]|not provided [RCV003769744] Chr5:172373776 [GRCh38]
Chr5:171800780 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*1862G>T single nucleotide variant Frank-Ter Haar syndrome [RCV001151309] Chr5:172336507 [GRCh38]
Chr5:171763511 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2031C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001151306] Chr5:172336338 [GRCh38]
Chr5:171763342 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*1928A>G single nucleotide variant Frank-Ter Haar syndrome [RCV001151307] Chr5:172336441 [GRCh38]
Chr5:171763445 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2079C>G (p.Asp693Glu) single nucleotide variant Frank-Ter Haar syndrome [RCV001151543]|Inborn genetic diseases [RCV004032796] Chr5:172339026 [GRCh38]
Chr5:171766030 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1984G>A (p.Asp662Asn) single nucleotide variant Frank-Ter Haar syndrome [RCV001151544] Chr5:172339121 [GRCh38]
Chr5:171766125 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1671G>A (p.Pro557=) single nucleotide variant Frank-Ter Haar syndrome [RCV001151546] Chr5:172339434 [GRCh38]
Chr5:171766438 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2355G>C single nucleotide variant Frank-Ter Haar syndrome [RCV001156753] Chr5:172336014 [GRCh38]
Chr5:171763018 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2275G>C single nucleotide variant Frank-Ter Haar syndrome [RCV001156754] Chr5:172336094 [GRCh38]
Chr5:171763098 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*4489C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001152866] Chr5:172333880 [GRCh38]
Chr5:171760884 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3411G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001154988] Chr5:172334958 [GRCh38]
Chr5:171761962 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*300G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001155297] Chr5:172338069 [GRCh38]
Chr5:171765073 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2601C>G (p.Thr867=) single nucleotide variant Frank-Ter Haar syndrome [RCV001155300]|not provided [RCV001487803] Chr5:172338504 [GRCh38]
Chr5:171765508 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.*3858G>C single nucleotide variant Frank-Ter Haar syndrome [RCV001154146] Chr5:172334511 [GRCh38]
Chr5:171761515 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*600G>C single nucleotide variant Frank-Ter Haar syndrome [RCV001154460] Chr5:172337769 [GRCh38]
Chr5:171764773 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1616G>A (p.Arg539Gln) single nucleotide variant Frank-Ter Haar syndrome [RCV001154551]|not provided [RCV001859009] Chr5:172339489 [GRCh38]
Chr5:171766493 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3595G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001154987] Chr5:172334774 [GRCh38]
Chr5:171761778 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3388C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001154989] Chr5:172334981 [GRCh38]
Chr5:171761985 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2888G>C single nucleotide variant Frank-Ter Haar syndrome [RCV001151186] Chr5:172335481 [GRCh38]
Chr5:171762485 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.*3227C>G single nucleotide variant Frank-Ter Haar syndrome [RCV001156648] Chr5:172335142 [GRCh38]
Chr5:171762146 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3226C>A single nucleotide variant Frank-Ter Haar syndrome [RCV001156649] Chr5:172335143 [GRCh38]
Chr5:171762147 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*3191C>T single nucleotide variant Frank-Ter Haar syndrome [RCV001156650] Chr5:172335178 [GRCh38]
Chr5:171762182 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2262G>A single nucleotide variant Frank-Ter Haar syndrome [RCV001156755] Chr5:172336107 [GRCh38]
Chr5:171763111 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2203T>C single nucleotide variant Frank-Ter Haar syndrome [RCV001156756] Chr5:172336166 [GRCh38]
Chr5:171763170 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.*2740A>G single nucleotide variant Frank-Ter Haar syndrome [RCV001154254] Chr5:172335629 [GRCh38]
Chr5:171762633 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.693G>A (p.Pro231=) single nucleotide variant Frank-Ter Haar syndrome [RCV001154680]|Inborn genetic diseases [RCV004032811]|not provided [RCV002070895] Chr5:172353980 [GRCh38]
Chr5:171780984 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_001017995.3(SH3PXD2B):c.428-168G>A single nucleotide variant not provided [RCV001572397] Chr5:172363037 [GRCh38]
Chr5:171790041 [GRCh37]
Chr5:5q35.1		 likely benign
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_001017995.3(SH3PXD2B):c.1066C>T (p.Arg356Ter) single nucleotide variant Frank-Ter Haar syndrome [RCV001330132] Chr5:172346258 [GRCh38]
Chr5:171773262 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.2560_2561del (p.Leu854fs) deletion Frank-Ter Haar syndrome [RCV001330133] Chr5:172338544..172338545 [GRCh38]
Chr5:171765548..171765549 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.1067G>A (p.Arg356Gln) single nucleotide variant not provided [RCV001296502] Chr5:172346257 [GRCh38]
Chr5:171773261 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1021A>G (p.Lys341Glu) single nucleotide variant Inborn genetic diseases [RCV003169890]|not provided [RCV001368884] Chr5:172347324 [GRCh38]
Chr5:171774328 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp) single nucleotide variant Frank-Ter Haar syndrome [RCV002493896]|not provided [RCV001372690] Chr5:172339490 [GRCh38]
Chr5:171766494 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.2381C>G (p.Pro794Arg) single nucleotide variant not provided [RCV001372728] Chr5:172338724 [GRCh38]
Chr5:171765728 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1718G>A (p.Arg573Gln) single nucleotide variant not provided [RCV001302830] Chr5:172339387 [GRCh38]
Chr5:171766391 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.921G>C (p.Gln307His) single nucleotide variant not provided [RCV001321450] Chr5:172350454 [GRCh38]
Chr5:171777458 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2578G>A (p.Asp860Asn) single nucleotide variant Inborn genetic diseases [RCV003284268]|not provided [RCV001364085] Chr5:172338527 [GRCh38]
Chr5:171765531 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.967G>A (p.Gly323Arg) single nucleotide variant Inborn genetic diseases [RCV002541909]|not provided [RCV001299917] Chr5:172350408 [GRCh38]
Chr5:171777412 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2278C>T (p.Arg760Cys) single nucleotide variant not provided [RCV001323866] Chr5:172338827 [GRCh38]
Chr5:171765831 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.262C>T (p.Arg88Trp) single nucleotide variant not provided [RCV001372640]|not specified [RCV003226463] Chr5:172394610 [GRCh38]
Chr5:171821614 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1186G>A (p.Glu396Lys) single nucleotide variant not provided [RCV001366685] Chr5:172346138 [GRCh38]
Chr5:171773142 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.657G>T (p.Gln219His) single nucleotide variant not provided [RCV001341142] Chr5:172358783 [GRCh38]
Chr5:171785787 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.901G>A (p.Asp301Asn) single nucleotide variant not provided [RCV001369376] Chr5:172350474 [GRCh38]
Chr5:171777478 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.692C>A (p.Pro231Gln) single nucleotide variant not provided [RCV001306230] Chr5:172353981 [GRCh38]
Chr5:171780985 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1475A>C (p.Lys492Thr) single nucleotide variant not provided [RCV001359309] Chr5:172339630 [GRCh38]
Chr5:171766634 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.95C>T (p.Thr32Met) single nucleotide variant not provided [RCV001511156] Chr5:172422477 [GRCh38]
Chr5:171849481 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.987G>A (p.Pro329=) single nucleotide variant not provided [RCV001502047] Chr5:172350388 [GRCh38]
Chr5:171777392 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1083del (p.Lys362fs) deletion not provided [RCV001377357] Chr5:172346241 [GRCh38]
Chr5:171773245 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_001017995.3(SH3PXD2B):c.1063-245A>G single nucleotide variant not provided [RCV001653171] Chr5:172346506 [GRCh38]
Chr5:171773510 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.924C>T (p.Asn308=) single nucleotide variant not provided [RCV001473484] Chr5:172350451 [GRCh38]
Chr5:171777455 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.667+138C>T single nucleotide variant not provided [RCV001707029] Chr5:172358635 [GRCh38]
Chr5:171785639 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.96G>A (p.Thr32=) single nucleotide variant not provided [RCV001482849] Chr5:172422476 [GRCh38]
Chr5:171849480 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.75+190C>A single nucleotide variant not provided [RCV001588733] Chr5:172454088 [GRCh38]
Chr5:171881092 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1398C>G (p.Pro466=) single nucleotide variant not provided [RCV001459849] Chr5:172339707 [GRCh38]
Chr5:171766711 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1012+262A>G single nucleotide variant not provided [RCV001672140] Chr5:172350101 [GRCh38]
Chr5:171777105 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.668-241T>G single nucleotide variant not provided [RCV001540931] Chr5:172354246 [GRCh38]
Chr5:171781250 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1317C>T (p.Pro439=) single nucleotide variant not provided [RCV001399994] Chr5:172339788 [GRCh38]
Chr5:171766792 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2322G>A (p.Pro774=) single nucleotide variant not provided [RCV003109078] Chr5:172338783 [GRCh38]
Chr5:171765787 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1372A>G (p.Asn458Asp) single nucleotide variant not provided [RCV001754667] Chr5:172339733 [GRCh38]
Chr5:171766737 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.567G>A (p.Trp189Ter) single nucleotide variant Frank-Ter Haar syndrome [RCV001783742] Chr5:172358873 [GRCh38]
Chr5:171785877 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_001017995.3(SH3PXD2B):c.2670G>C (p.Gln890His) single nucleotide variant Inborn genetic diseases [RCV002540573]|not provided [RCV001765910] Chr5:172338435 [GRCh38]
Chr5:171765439 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2635C>T (p.Arg879Trp) single nucleotide variant not provided [RCV001950542] Chr5:172338470 [GRCh38]
Chr5:171765474 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.632G>A (p.Gly211Glu) single nucleotide variant not provided [RCV002043422] Chr5:172358808 [GRCh38]
Chr5:171785812 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1439C>T (p.Ser480Leu) single nucleotide variant not provided [RCV001914939] Chr5:172339666 [GRCh38]
Chr5:171766670 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2449G>C (p.Asp817His) single nucleotide variant not provided [RCV002043489] Chr5:172338656 [GRCh38]
Chr5:171765660 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1129G>A (p.Ala377Thr) single nucleotide variant SH3PXD2B-related disorder [RCV003956409]|not provided [RCV002039717] Chr5:172346195 [GRCh38]
Chr5:171773199 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124) copy number loss not specified [RCV002053537] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.2416C>A (p.Pro806Thr) single nucleotide variant Inborn genetic diseases [RCV002548177]|not provided [RCV002043237] Chr5:172338689 [GRCh38]
Chr5:171765693 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.329C>G (p.Pro110Arg) single nucleotide variant Inborn genetic diseases [RCV003161278]|not provided [RCV002024543] Chr5:172382108 [GRCh38]
Chr5:171809112 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2596G>C (p.Asp866His) single nucleotide variant not provided [RCV002002949] Chr5:172338509 [GRCh38]
Chr5:171765513 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2416C>T (p.Pro806Ser) single nucleotide variant not provided [RCV002041262] Chr5:172338689 [GRCh38]
Chr5:171765693 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1013-3T>C single nucleotide variant not provided [RCV001962855] Chr5:172347335 [GRCh38]
Chr5:171774339 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1730G>T (p.Arg577Met) single nucleotide variant not provided [RCV001886664] Chr5:172339375 [GRCh38]
Chr5:171766379 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[4] (p.538ER[4]) microsatellite not provided [RCV001931389] Chr5:172339475..172339476 [GRCh38]
Chr5:171766479..171766480 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1093_1101dup (p.Ile365_Pro367dup) duplication not provided [RCV002037196] Chr5:172346222..172346223 [GRCh38]
Chr5:171773226..171773227 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2359G>T (p.Glu787Ter) single nucleotide variant not provided [RCV002033814] Chr5:172338746 [GRCh38]
Chr5:171765750 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2096G>A (p.Ser699Asn) single nucleotide variant not provided [RCV001939803] Chr5:172339009 [GRCh38]
Chr5:171766013 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1132G>A (p.Glu378Lys) single nucleotide variant not provided [RCV001933431] Chr5:172346192 [GRCh38]
Chr5:171773196 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.267C>T (p.Asp89=) single nucleotide variant not provided [RCV002037675] Chr5:172394605 [GRCh38]
Chr5:171821609 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.455T>C (p.Met152Thr) single nucleotide variant not provided [RCV002013027] Chr5:172362842 [GRCh38]
Chr5:171789846 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2122C>T (p.Arg708Cys) single nucleotide variant not provided [RCV001993092] Chr5:172338983 [GRCh38]
Chr5:171765987 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2728A>T (p.Lys910Ter) single nucleotide variant not provided [RCV002027570] Chr5:172338377 [GRCh38]
Chr5:171765381 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1648C>T (p.Arg550Trp) single nucleotide variant Inborn genetic diseases [RCV002561482]|not provided [RCV001952844] Chr5:172339457 [GRCh38]
Chr5:171766461 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.574G>A (p.Val192Ile) single nucleotide variant not provided [RCV001917990] Chr5:172358866 [GRCh38]
Chr5:171785870 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1343G>A (p.Arg448Gln) single nucleotide variant Inborn genetic diseases [RCV004043105]|not provided [RCV001978872] Chr5:172339762 [GRCh38]
Chr5:171766766 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.845C>A (p.Pro282His) single nucleotide variant not provided [RCV001957018] Chr5:172350530 [GRCh38]
Chr5:171777534 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1141A>G (p.Thr381Ala) single nucleotide variant not provided [RCV002030144] Chr5:172346183 [GRCh38]
Chr5:171773187 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2680G>A (p.Gly894Arg) single nucleotide variant not provided [RCV002032181] Chr5:172338425 [GRCh38]
Chr5:171765429 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1666C>G (p.Pro556Ala) single nucleotide variant not provided [RCV002031417] Chr5:172339439 [GRCh38]
Chr5:171766443 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1988T>C (p.Ile663Thr) single nucleotide variant not provided [RCV001933240] Chr5:172339117 [GRCh38]
Chr5:171766121 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1462T>C (p.Trp488Arg) single nucleotide variant not provided [RCV001918740] Chr5:172339643 [GRCh38]
Chr5:171766647 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1600G>A (p.Gly534Arg) single nucleotide variant not provided [RCV002029332] Chr5:172339505 [GRCh38]
Chr5:171766509 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2506A>G (p.Arg836Gly) single nucleotide variant not provided [RCV002014169] Chr5:172338599 [GRCh38]
Chr5:171765603 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.376C>A (p.Pro126Thr) single nucleotide variant not provided [RCV001903393] Chr5:172382061 [GRCh38]
Chr5:171809065 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2320C>A (p.Pro774Thr) single nucleotide variant not provided [RCV001938252] Chr5:172338785 [GRCh38]
Chr5:171765789 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.119C>T (p.Ala40Val) single nucleotide variant not provided [RCV001938005] Chr5:172422453 [GRCh38]
Chr5:171849457 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1994A>G (p.Asn665Ser) single nucleotide variant Inborn genetic diseases [RCV004042550]|not provided [RCV001925205] Chr5:172339111 [GRCh38]
Chr5:171766115 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.794G>A (p.Gly265Asp) single nucleotide variant not provided [RCV001922379] Chr5:172350581 [GRCh38]
Chr5:171777585 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1838G>A (p.Arg613Gln) single nucleotide variant Inborn genetic diseases [RCV004656729]|not provided [RCV001920343] Chr5:172339267 [GRCh38]
Chr5:171766271 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1943C>T (p.Pro648Leu) single nucleotide variant not provided [RCV001898038] Chr5:172339162 [GRCh38]
Chr5:171766166 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.395C>A (p.Pro132His) single nucleotide variant not provided [RCV001875450] Chr5:172382042 [GRCh38]
Chr5:171809046 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1621C>T (p.Arg541Trp) single nucleotide variant Inborn genetic diseases [RCV002548691]|not provided [RCV001878460] Chr5:172339484 [GRCh38]
Chr5:171766488 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2345A>G (p.Gln782Arg) single nucleotide variant not provided [RCV002010078] Chr5:172338760 [GRCh38]
Chr5:171765764 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.412G>T (p.Gly138Trp) single nucleotide variant not provided [RCV001936555] Chr5:172373805 [GRCh38]
Chr5:171800809 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1971C>T (p.Gly657=) single nucleotide variant not provided [RCV002014701] Chr5:172339134 [GRCh38]
Chr5:171766138 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.854C>T (p.Pro285Leu) single nucleotide variant SH3PXD2B-related disorder [RCV003948851]|not provided [RCV001979426] Chr5:172350521 [GRCh38]
Chr5:171777525 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.396dup (p.Lys133fs) duplication not provided [RCV002226140] Chr5:172382040..172382041 [GRCh38]
Chr5:171809044..171809045 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_001017995.3(SH3PXD2B):c.76-10G>C single nucleotide variant not provided [RCV002088969] Chr5:172422506 [GRCh38]
Chr5:171849510 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1362G>A (p.Ala454=) single nucleotide variant not provided [RCV002112370] Chr5:172339743 [GRCh38]
Chr5:171766747 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1572G>A (p.Pro524=) single nucleotide variant not provided [RCV002204959] Chr5:172339533 [GRCh38]
Chr5:171766537 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.75+20del deletion not provided [RCV002206650] Chr5:172454258 [GRCh38]
Chr5:171881262 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1705A>T (p.Ile569Phe) single nucleotide variant SH3PXD2B-related disorder [RCV003970946]|not provided [RCV002124974] Chr5:172339400 [GRCh38]
Chr5:171766404 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.2226C>T (p.Ser742=) single nucleotide variant not provided [RCV002129538] Chr5:172338879 [GRCh38]
Chr5:171765883 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.741G>C (p.Val247=) single nucleotide variant not provided [RCV002075311] Chr5:172353932 [GRCh38]
Chr5:171780936 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.429G>C (p.Gly143=) single nucleotide variant not provided [RCV002186113] Chr5:172362868 [GRCh38]
Chr5:171789872 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.354G>A (p.Val118=) single nucleotide variant not provided [RCV002147443] Chr5:172382083 [GRCh38]
Chr5:171809087 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1473T>C (p.Ser491=) single nucleotide variant not provided [RCV002145951] Chr5:172339632 [GRCh38]
Chr5:171766636 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.428-395T>C single nucleotide variant not provided [RCV002223559] Chr5:172363264 [GRCh38]
Chr5:171790268 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.310-15G>A single nucleotide variant not provided [RCV002152878] Chr5:172382142 [GRCh38]
Chr5:171809146 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.157-14C>T single nucleotide variant not provided [RCV002127345] Chr5:172406366 [GRCh38]
Chr5:171833370 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.36G>C (p.Val12=) single nucleotide variant not provided [RCV002196151] Chr5:172454317 [GRCh38]
Chr5:171881321 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1362G>T (p.Ala454=) single nucleotide variant not provided [RCV002131950] Chr5:172339743 [GRCh38]
Chr5:171766747 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2037C>T (p.Ser679=) single nucleotide variant not provided [RCV002214850] Chr5:172339068 [GRCh38]
Chr5:171766072 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2544C>A (p.Asp848Glu) single nucleotide variant Inborn genetic diseases [RCV004045601]|not provided [RCV002216175] Chr5:172338561 [GRCh38]
Chr5:171765565 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.667+12C>T single nucleotide variant not provided [RCV002116589] Chr5:172358761 [GRCh38]
Chr5:171785765 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.233-11A>G single nucleotide variant not provided [RCV002111426] Chr5:172394650 [GRCh38]
Chr5:171821654 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2577C>T (p.Ala859=) single nucleotide variant not provided [RCV002132875] Chr5:172338528 [GRCh38]
Chr5:171765532 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2125G>A (p.Ala709Thr) single nucleotide variant not provided [RCV002132162] Chr5:172338980 [GRCh38]
Chr5:171765984 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.2733G>A (p.Pro911=) single nucleotide variant not provided [RCV002215670] Chr5:172338372 [GRCh38]
Chr5:171765376 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.402-18C>G single nucleotide variant not provided [RCV002114390] Chr5:172373833 [GRCh38]
Chr5:171800837 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.563-16A>G single nucleotide variant not provided [RCV002120182] Chr5:172358893 [GRCh38]
Chr5:171785897 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.667+14C>T single nucleotide variant not provided [RCV002121814] Chr5:172358759 [GRCh38]
Chr5:171785763 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1013-194G>A single nucleotide variant not provided [RCV002247196] Chr5:172347526 [GRCh38]
Chr5:171774530 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.785+14C>T single nucleotide variant not provided [RCV002135412] Chr5:172353874 [GRCh38]
Chr5:171780878 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.675G>A (p.Lys225=) single nucleotide variant not provided [RCV002103416] Chr5:172353998 [GRCh38]
Chr5:171781002 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1587C>T (p.Ile529=) single nucleotide variant not provided [RCV002182392] Chr5:172339518 [GRCh38]
Chr5:171766522 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.157-7del deletion not provided [RCV002122915] Chr5:172406359 [GRCh38]
Chr5:171833363 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1245G>A (p.Gly415=) single nucleotide variant not provided [RCV002118025] Chr5:172339860 [GRCh38]
Chr5:171766864 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.232+11T>C single nucleotide variant not provided [RCV002121881] Chr5:172406266 [GRCh38]
Chr5:171833270 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1155C>T (p.Asp385=) single nucleotide variant not provided [RCV002181334] Chr5:172346169 [GRCh38]
Chr5:171773173 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.232+19C>T single nucleotide variant not provided [RCV002138629] Chr5:172406258 [GRCh38]
Chr5:171833262 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.563-18G>T single nucleotide variant not provided [RCV002155752] Chr5:172358895 [GRCh38]
Chr5:171785899 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1308T>C (p.Phe436=) single nucleotide variant not provided [RCV002137230] Chr5:172339797 [GRCh38]
Chr5:171766801 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.813C>T (p.Pro271=) single nucleotide variant not provided [RCV002159322] Chr5:172350562 [GRCh38]
Chr5:171777566 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.971G>A (p.Arg324Gln) single nucleotide variant Frank-Ter Haar syndrome [RCV004720388]|not provided [RCV003114734] Chr5:172350404 [GRCh38]
Chr5:171777408 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NC_000005.9:g.(?_171765373)_(172939426_?)dup duplication not provided [RCV003122302] Chr5:171765373..172939426 [GRCh37]
Chr5:5q35.1-35.2		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2359G>A (p.Glu787Lys) single nucleotide variant not provided [RCV003118440] Chr5:172338746 [GRCh38]
Chr5:171765750 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1012+1G>T single nucleotide variant Frank-Ter Haar syndrome [RCV003152664] Chr5:172350362 [GRCh38]
Chr5:171777366 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.452C>T (p.Pro151Leu) single nucleotide variant Frank-Ter Haar syndrome [RCV002292432] Chr5:172362845 [GRCh38]
Chr5:171789849 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
NM_001017995.3(SH3PXD2B):c.1637C>T (p.Thr546Met) single nucleotide variant Inborn genetic diseases [RCV003284822] Chr5:172339468 [GRCh38]
Chr5:171766472 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1433T>G (p.Met478Arg) single nucleotide variant Inborn genetic diseases [RCV003285308] Chr5:172339672 [GRCh38]
Chr5:171766676 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2		 pathogenic
NM_001017995.3(SH3PXD2B):c.428G>T (p.Gly143Val) single nucleotide variant not provided [RCV002681861] Chr5:172362869 [GRCh38]
Chr5:171789873 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh37/hg19 5q35.1(chr5:171536921-171942436)x3 copy number gain not provided [RCV002472476] Chr5:171536921..171942436 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=) single nucleotide variant not provided [RCV002306150] Chr5:172454308 [GRCh38]
Chr5:171881312 [GRCh37]
Chr5:5q35.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001017995.3(SH3PXD2B):c.2119G>A (p.Gly707Ser) single nucleotide variant Inborn genetic diseases [RCV002860887] Chr5:172338986 [GRCh38]
Chr5:171765990 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1059C>T (p.Thr353=) single nucleotide variant not provided [RCV003014096] Chr5:172347286 [GRCh38]
Chr5:171774290 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.855G>A (p.Pro285=) single nucleotide variant not provided [RCV002994315] Chr5:172350520 [GRCh38]
Chr5:171777524 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2279G>A (p.Arg760His) single nucleotide variant Inborn genetic diseases [RCV002689464] Chr5:172338826 [GRCh38]
Chr5:171765830 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1012+7G>T single nucleotide variant not provided [RCV002819788] Chr5:172350356 [GRCh38]
Chr5:171777360 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1083G>A (p.Pro361=) single nucleotide variant not provided [RCV002756678] Chr5:172346241 [GRCh38]
Chr5:171773245 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.510G>A (p.Glu170=) single nucleotide variant not provided [RCV002794929] Chr5:172362787 [GRCh38]
Chr5:171789791 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.2180G>C (p.Arg727Thr) single nucleotide variant not provided [RCV002771185] Chr5:172338925 [GRCh38]
Chr5:171765929 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.704G>A (p.Arg235Gln) single nucleotide variant Inborn genetic diseases [RCV002779052] Chr5:172353969 [GRCh38]
Chr5:171780973 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1156G>A (p.Gly386Ser) single nucleotide variant not provided [RCV002618156] Chr5:172346168 [GRCh38]
Chr5:171773172 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2139G>C (p.Thr713=) single nucleotide variant not provided [RCV002756344] Chr5:172338966 [GRCh38]
Chr5:171765970 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.686T>C (p.Ile229Thr) single nucleotide variant Inborn genetic diseases [RCV002793500] Chr5:172353987 [GRCh38]
Chr5:171780991 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1628G>A (p.Arg543Gln) single nucleotide variant not provided [RCV002996186] Chr5:172339477 [GRCh38]
Chr5:171766481 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.402-6G>C single nucleotide variant not provided [RCV003012212] Chr5:172373821 [GRCh38]
Chr5:171800825 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2653G>A (p.Gly885Ser) single nucleotide variant Inborn genetic diseases [RCV004065033]|not provided [RCV002975952] Chr5:172338452 [GRCh38]
Chr5:171765456 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.329C>A (p.Pro110His) single nucleotide variant not provided [RCV002761143] Chr5:172382108 [GRCh38]
Chr5:171809112 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.330del (p.Tyr111fs) deletion SH3PXD2B-related disorder [RCV003898704]|not provided [RCV003020155] Chr5:172382107 [GRCh38]
Chr5:171809111 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.980G>A (p.Gly327Asp) single nucleotide variant Inborn genetic diseases [RCV002738293] Chr5:172350395 [GRCh38]
Chr5:171777399 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.562+5G>A single nucleotide variant not provided [RCV002694852] Chr5:172362730 [GRCh38]
Chr5:171789734 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.401+11_401+14del microsatellite not provided [RCV003020149] Chr5:172382022..172382025 [GRCh38]
Chr5:171809026..171809029 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2117C>G (p.Pro706Arg) single nucleotide variant not provided [RCV002820900] Chr5:172338988 [GRCh38]
Chr5:171765992 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2441G>T (p.Gly814Val) single nucleotide variant Inborn genetic diseases [RCV002997966] Chr5:172338664 [GRCh38]
Chr5:171765668 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2570C>T (p.Ala857Val) single nucleotide variant not provided [RCV002658599] Chr5:172338535 [GRCh38]
Chr5:171765539 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1902C>T (p.Pro634=) single nucleotide variant not provided [RCV002926786] Chr5:172339203 [GRCh38]
Chr5:171766207 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.423A>G (p.Lys141=) single nucleotide variant not provided [RCV002885715] Chr5:172373794 [GRCh38]
Chr5:171800798 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.75+18C>G single nucleotide variant not provided [RCV002820338] Chr5:172454260 [GRCh38]
Chr5:171881264 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.392C>T (p.Pro131Leu) single nucleotide variant Inborn genetic diseases [RCV002844306] Chr5:172382045 [GRCh38]
Chr5:171809049 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.76-5C>T single nucleotide variant SH3PXD2B-related disorder [RCV003961121]|not provided [RCV002735298] Chr5:172422501 [GRCh38]
Chr5:171849505 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1264A>G (p.Ile422Val) single nucleotide variant Inborn genetic diseases [RCV002737171] Chr5:172339841 [GRCh38]
Chr5:171766845 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1381_1395dup (p.Gly465_Pro466insSerGluAlaThrGly) duplication not provided [RCV003002379] Chr5:172339709..172339710 [GRCh38]
Chr5:171766713..171766714 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1993A>T (p.Asn665Tyr) single nucleotide variant not provided [RCV003018902] Chr5:172339112 [GRCh38]
Chr5:171766116 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.758A>G (p.Lys253Arg) single nucleotide variant Inborn genetic diseases [RCV002916693] Chr5:172353915 [GRCh38]
Chr5:171780919 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1421C>T (p.Pro474Leu) single nucleotide variant Inborn genetic diseases [RCV002983811] Chr5:172339684 [GRCh38]
Chr5:171766688 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1293G>A (p.Ala431=) single nucleotide variant not provided [RCV002575029] Chr5:172339812 [GRCh38]
Chr5:171766816 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2175C>T (p.Ser725=) single nucleotide variant not provided [RCV002594520] Chr5:172338930 [GRCh38]
Chr5:171765934 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.564T>C (p.Gly188=) single nucleotide variant not provided [RCV002933145] Chr5:172358876 [GRCh38]
Chr5:171785880 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.260T>C (p.Ile87Thr) single nucleotide variant not provided [RCV002954205] Chr5:172394612 [GRCh38]
Chr5:171821616 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2537A>G (p.Asn846Ser) single nucleotide variant Inborn genetic diseases [RCV003308283]|not provided [RCV002790494] Chr5:172338568 [GRCh38]
Chr5:171765572 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.1560C>T (p.Pro520=) single nucleotide variant not provided [RCV002891179] Chr5:172339545 [GRCh38]
Chr5:171766549 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2636G>A (p.Arg879Gln) single nucleotide variant Inborn genetic diseases [RCV002854063] Chr5:172338469 [GRCh38]
Chr5:171765473 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2034G>A (p.Lys678=) single nucleotide variant not provided [RCV002700675] Chr5:172339071 [GRCh38]
Chr5:171766075 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2072G>A (p.Gly691Asp) single nucleotide variant Inborn genetic diseases [RCV002696644] Chr5:172339033 [GRCh38]
Chr5:171766037 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2182G>A (p.Ala728Thr) single nucleotide variant Inborn genetic diseases [RCV002954546] Chr5:172338923 [GRCh38]
Chr5:171765927 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.433G>A (p.Asp145Asn) single nucleotide variant not provided [RCV002508541] Chr5:172362864 [GRCh38]
Chr5:171789868 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1383C>T (p.Ser461=) single nucleotide variant not provided [RCV002918661] Chr5:172339722 [GRCh38]
Chr5:171766726 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.992C>T (p.Pro331Leu) single nucleotide variant Inborn genetic diseases [RCV002787545] Chr5:172350383 [GRCh38]
Chr5:171777387 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.325C>T (p.Pro109Ser) single nucleotide variant not provided [RCV002716124] Chr5:172382112 [GRCh38]
Chr5:171809116 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2732C>T (p.Pro911Leu) single nucleotide variant not provided [RCV002961929] Chr5:172338373 [GRCh38]
Chr5:171765377 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1717C>A (p.Arg573=) single nucleotide variant not provided [RCV002716320] Chr5:172339388 [GRCh38]
Chr5:171766392 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.849G>T (p.Leu283Phe) single nucleotide variant Inborn genetic diseases [RCV002809196] Chr5:172350526 [GRCh38]
Chr5:171777530 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1888A>T (p.Thr630Ser) single nucleotide variant not provided [RCV002631555] Chr5:172339217 [GRCh38]
Chr5:171766221 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1906T>G (p.Leu636Val) single nucleotide variant not provided [RCV002598488] Chr5:172339199 [GRCh38]
Chr5:171766203 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.983G>A (p.Arg328His) single nucleotide variant Inborn genetic diseases [RCV002960837] Chr5:172350392 [GRCh38]
Chr5:171777396 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2572G>A (p.Val858Met) single nucleotide variant Inborn genetic diseases [RCV002747596]|not provided [RCV003162105] Chr5:172338533 [GRCh38]
Chr5:171765537 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.782T>G (p.Ile261Ser) single nucleotide variant not provided [RCV002632669] Chr5:172353891 [GRCh38]
Chr5:171780895 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.280C>T (p.Arg94Cys) single nucleotide variant Inborn genetic diseases [RCV002879089] Chr5:172394592 [GRCh38]
Chr5:171821596 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.585C>G (p.Ala195=) single nucleotide variant not provided [RCV002922963] Chr5:172358855 [GRCh38]
Chr5:171785859 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.830A>G (p.Lys277Arg) single nucleotide variant Inborn genetic diseases [RCV002944598] Chr5:172350545 [GRCh38]
Chr5:171777549 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2714A>G (p.Asn905Ser) single nucleotide variant Inborn genetic diseases [RCV002604550]|not provided [RCV002604551] Chr5:172338391 [GRCh38]
Chr5:171765395 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.157-13G>A single nucleotide variant not provided [RCV002943041] Chr5:172406365 [GRCh38]
Chr5:171833369 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2387G>A (p.Arg796His) single nucleotide variant not provided [RCV002607535] Chr5:172338718 [GRCh38]
Chr5:171765722 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.731G>A (p.Arg244Lys) single nucleotide variant not provided [RCV002815048] Chr5:172353942 [GRCh38]
Chr5:171780946 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1082C>T (p.Pro361Leu) single nucleotide variant not provided [RCV002585979] Chr5:172346242 [GRCh38]
Chr5:171773246 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.339T>C (p.Ser113=) single nucleotide variant not provided [RCV002942513] Chr5:172382098 [GRCh38]
Chr5:171809102 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.228G>A (p.Leu76=) single nucleotide variant not provided [RCV002814590] Chr5:172406281 [GRCh38]
Chr5:171833285 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2409del (p.Ala804fs) deletion not provided [RCV002606857] Chr5:172338696 [GRCh38]
Chr5:171765700 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1622G>A (p.Arg541Gln) single nucleotide variant not provided [RCV003071939] Chr5:172339483 [GRCh38]
Chr5:171766487 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.828GAA[1] (p.Lys277del) microsatellite not provided [RCV003068915] Chr5:172350542..172350544 [GRCh38]
Chr5:171777546..171777548 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1002C>T (p.Asp334=) single nucleotide variant not provided [RCV002635105] Chr5:172350373 [GRCh38]
Chr5:171777377 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2545G>A (p.Gly849Ser) single nucleotide variant Inborn genetic diseases [RCV003358104]|not provided [RCV002606262] Chr5:172338560 [GRCh38]
Chr5:171765564 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1221C>T (p.Tyr407=) single nucleotide variant SH3PXD2B-related disorder [RCV003971330]|not provided [RCV002589317] Chr5:172339884 [GRCh38]
Chr5:171766888 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1292C>T (p.Ala431Val) single nucleotide variant Inborn genetic diseases [RCV003167437]|not provided [RCV002584403] Chr5:172339813 [GRCh38]
Chr5:171766817 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1447C>T (p.Pro483Ser) single nucleotide variant not provided [RCV002612746] Chr5:172339658 [GRCh38]
Chr5:171766662 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1736A>G (p.Glu579Gly) single nucleotide variant Inborn genetic diseases [RCV003200071] Chr5:172339369 [GRCh38]
Chr5:171766373 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.506C>T (p.Ser169Leu) single nucleotide variant Inborn genetic diseases [RCV003201492] Chr5:172362791 [GRCh38]
Chr5:171789795 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.908T>G (p.Val303Gly) single nucleotide variant Inborn genetic diseases [RCV003203626] Chr5:172350467 [GRCh38]
Chr5:171777471 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1514C>T (p.Ser505Leu) single nucleotide variant Inborn genetic diseases [RCV003345097]|not provided [RCV003730545] Chr5:172339591 [GRCh38]
Chr5:171766595 [GRCh37]
Chr5:5q35.1		 uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del deletion Frank-Ter Haar syndrome [RCV000201028] Chr5:172331781..172344363 [GRCh38]
Chr5:171758785..171771367 [GRCh37]
Chr5:5q35.1		 pathogenic|likely pathogenic
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) single nucleotide variant Frank-Ter Haar syndrome [RCV000378173]|not provided [RCV000441194] Chr5:172339562 [GRCh38]
Chr5:171766566 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.*2127A>C single nucleotide variant Frank-Ter Haar syndrome [RCV000361926] Chr5:172336242 [GRCh38]
Chr5:171763246 [GRCh37]
Chr5:5q35.1		 benign|likely benign
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) single nucleotide variant Frank-Ter Haar syndrome [RCV000326087]|SH3PXD2B-related disorder [RCV003970030]|not provided [RCV000903078] Chr5:172362867 [GRCh38]
Chr5:171789871 [GRCh37]
Chr5:5q35.1		 benign|likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.114C>T (p.Thr38=) single nucleotide variant not provided [RCV000891597] Chr5:172422458 [GRCh38]
Chr5:171849462 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.*4102G>T single nucleotide variant Frank-Ter Haar syndrome [RCV001152868] Chr5:172334267 [GRCh38]
Chr5:171761271 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2626_2629del (p.Phe876fs) deletion Frank-Ter Haar syndrome [RCV001731975]|not provided [RCV000912910] Chr5:172338476..172338479 [GRCh38]
Chr5:171765480..171765483 [GRCh37]
Chr5:5q35.1		 pathogenic|likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.966C>T (p.Asp322=) single nucleotide variant Frank-Ter Haar syndrome [RCV001151631]|not provided [RCV001498199] Chr5:172350409 [GRCh38]
Chr5:171777413 [GRCh37]
Chr5:5q35.1		 likely benign|uncertain significance
NM_001017995.3(SH3PXD2B):c.926C>T (p.Ala309Val) single nucleotide variant Frank-Ter Haar syndrome [RCV001151632]|not provided [RCV002032398] Chr5:172350449 [GRCh38]
Chr5:171777453 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.913C>T (p.Arg305Trp) single nucleotide variant Frank-Ter Haar syndrome [RCV001151633]|Inborn genetic diseases [RCV003283998]|not provided [RCV004694950] Chr5:172350462 [GRCh38]
Chr5:171777466 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1027A>G (p.Arg343Gly) single nucleotide variant Frank-Ter Haar syndrome [RCV001157079] Chr5:172347318 [GRCh38]
Chr5:171774322 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.785+10G>A single nucleotide variant not provided [RCV001402535] Chr5:172353878 [GRCh38]
Chr5:171780882 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.573C>T (p.Phe191=) single nucleotide variant not provided [RCV002626157] Chr5:172358867 [GRCh38]
Chr5:171785871 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1253C>A (p.Pro418Gln) single nucleotide variant not provided [RCV003047732] Chr5:172339852 [GRCh38]
Chr5:171766856 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.901G>T (p.Asp301Tyr) single nucleotide variant Inborn genetic diseases [RCV003195511] Chr5:172350474 [GRCh38]
Chr5:171777478 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.893T>G (p.Leu298Arg) single nucleotide variant Inborn genetic diseases [RCV003355068] Chr5:172350482 [GRCh38]
Chr5:171777486 [GRCh37]
Chr5:5q35.1		 likely benign
GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1 copy number loss not provided [RCV003485492] Chr5:171836503..176517734 [GRCh37]
Chr5:5q35.1-35.2		 pathogenic
NM_001017995.3(SH3PXD2B):c.310-2A>G single nucleotide variant not provided [RCV003875282] Chr5:172382129 [GRCh38]
Chr5:171809133 [GRCh37]
Chr5:5q35.1		 likely pathogenic
NM_001017995.3(SH3PXD2B):c.-142_-131dup duplication not provided [RCV003428719] Chr5:172454482..172454483 [GRCh38]
Chr5:171881486..171881487 [GRCh37]
Chr5:5q35.1		 benign
NM_001017995.3(SH3PXD2B):c.1936C>T (p.Pro646Ser) single nucleotide variant not provided [RCV003687130] Chr5:172339169 [GRCh38]
Chr5:171766173 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1098G>A (p.Pro366=) single nucleotide variant not provided [RCV003881398] Chr5:172346226 [GRCh38]
Chr5:171773230 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1012+14G>A single nucleotide variant not provided [RCV003875722] Chr5:172350349 [GRCh38]
Chr5:171777353 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2702G>T (p.Trp901Leu) single nucleotide variant not provided [RCV003573825] Chr5:172338403 [GRCh38]
Chr5:171765407 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1939G>C (p.Ala647Pro) single nucleotide variant not provided [RCV003579950] Chr5:172339166 [GRCh38]
Chr5:171766170 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.498G>A (p.Gln166=) single nucleotide variant not provided [RCV003699312] Chr5:172362799 [GRCh38]
Chr5:171789803 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.157-4T>G single nucleotide variant not provided [RCV003665196] Chr5:172406356 [GRCh38]
Chr5:171833360 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.668-16C>T single nucleotide variant not provided [RCV003814059] Chr5:172354021 [GRCh38]
Chr5:171781025 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1986C>T (p.Asp662=) single nucleotide variant not provided [RCV003726394] Chr5:172339119 [GRCh38]
Chr5:171766123 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.785+19C>G single nucleotide variant not provided [RCV003815893] Chr5:172353869 [GRCh38]
Chr5:171780873 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.945G>A (p.Glu315=) single nucleotide variant not provided [RCV003723238] Chr5:172350430 [GRCh38]
Chr5:171777434 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1012+19A>G single nucleotide variant not provided [RCV003580321] Chr5:172350344 [GRCh38]
Chr5:171777348 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.270G>A (p.Val90=) single nucleotide variant not provided [RCV003814630] Chr5:172394602 [GRCh38]
Chr5:171821606 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.233-16C>T single nucleotide variant not provided [RCV003837558] Chr5:172394655 [GRCh38]
Chr5:171821659 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.15C>G (p.Arg5=) single nucleotide variant not provided [RCV003836666] Chr5:172454338 [GRCh38]
Chr5:171881342 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.21C>T (p.Ile7=) single nucleotide variant not provided [RCV003811805] Chr5:172454332 [GRCh38]
Chr5:171881336 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2643G>C (p.Lys881Asn) single nucleotide variant not provided [RCV003664841] Chr5:172338462 [GRCh38]
Chr5:171765466 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1376C>T (p.Thr459Met) single nucleotide variant not provided [RCV003729065] Chr5:172339729 [GRCh38]
Chr5:171766733 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1401C>T (p.Ser467=) single nucleotide variant not provided [RCV003680990] Chr5:172339704 [GRCh38]
Chr5:171766708 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2397C>T (p.Leu799=) single nucleotide variant not provided [RCV003542857] Chr5:172338708 [GRCh38]
Chr5:171765712 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2328A>G (p.Pro776=) single nucleotide variant not provided [RCV003706154] Chr5:172338777 [GRCh38]
Chr5:171765781 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.816C>T (p.Ala272=) single nucleotide variant not provided [RCV003709965] Chr5:172350559 [GRCh38]
Chr5:171777563 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2310G>A (p.Ser770=) single nucleotide variant not provided [RCV003871112] Chr5:172338795 [GRCh38]
Chr5:171765799 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2079C>T (p.Asp693=) single nucleotide variant not provided [RCV003868214] Chr5:172339026 [GRCh38]
Chr5:171766030 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.2243A>T (p.Gln748Leu) single nucleotide variant not provided [RCV003720171] Chr5:172338862 [GRCh38]
Chr5:171765866 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1149C>T (p.Ile383=) single nucleotide variant not provided [RCV003685698] Chr5:172346175 [GRCh38]
Chr5:171773179 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1923G>A (p.Gln641=) single nucleotide variant not provided [RCV003685385] Chr5:172339182 [GRCh38]
Chr5:171766186 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.927G>A (p.Ala309=) single nucleotide variant not provided [RCV003721633] Chr5:172350448 [GRCh38]
Chr5:171777452 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.585C>T (p.Ala195=) single nucleotide variant not provided [RCV003551136] Chr5:172358855 [GRCh38]
Chr5:171785859 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV003820419] Chr5:172454316 [GRCh38]
Chr5:171881320 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.401+13G>T single nucleotide variant not provided [RCV003858732] Chr5:172382023 [GRCh38]
Chr5:171809027 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1392G>A (p.Thr464=) single nucleotide variant not provided [RCV003842344] Chr5:172339713 [GRCh38]
Chr5:171766717 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.280C>G (p.Arg94Gly) single nucleotide variant Frank-Ter Haar syndrome [RCV004527523] Chr5:172394592 [GRCh38]
Chr5:171821596 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.10:g.172325268C>G single nucleotide variant SH3PXD2B-related disorder [RCV003904499] Chr5:172325268 [GRCh38]
Chr5:171752272 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001308175.2(SH3PXD2B):c.1257A>G (p.Ala419=) single nucleotide variant SH3PXD2B-related disorder [RCV003901838] Chr5:172325312 [GRCh38]
Chr5:171752316 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.157-10C>T single nucleotide variant SH3PXD2B-related disorder [RCV003981510] Chr5:172406362 [GRCh38]
Chr5:171833366 [GRCh37]
Chr5:5q35.1		 likely benign
NM_001017995.3(SH3PXD2B):c.1195G>A (p.Glu399Lys) single nucleotide variant Inborn genetic diseases [RCV004448224] Chr5:172339910 [GRCh38]
Chr5:171766914 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1370A>C (p.Asn457Thr) single nucleotide variant Inborn genetic diseases [RCV004448225] Chr5:172339735 [GRCh38]
Chr5:171766739 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1837C>T (p.Arg613Trp) single nucleotide variant Inborn genetic diseases [RCV004448228] Chr5:172339268 [GRCh38]
Chr5:171766272 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2008C>T (p.Leu670Phe) single nucleotide variant Inborn genetic diseases [RCV004448229] Chr5:172339097 [GRCh38]
Chr5:171766101 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.799G>A (p.Glu267Lys) single nucleotide variant Inborn genetic diseases [RCV004448236] Chr5:172350576 [GRCh38]
Chr5:171777580 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1495T>C (p.Ser499Pro) single nucleotide variant Inborn genetic diseases [RCV004448226] Chr5:172339610 [GRCh38]
Chr5:171766614 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1789G>C (p.Glu597Gln) single nucleotide variant Inborn genetic diseases [RCV004448227] Chr5:172339316 [GRCh38]
Chr5:171766320 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2071G>T (p.Gly691Cys) single nucleotide variant Inborn genetic diseases [RCV004448230] Chr5:172339034 [GRCh38]
Chr5:171766038 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2386C>T (p.Arg796Cys) single nucleotide variant Inborn genetic diseases [RCV004448232] Chr5:172338719 [GRCh38]
Chr5:171765723 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2717A>G (p.Tyr906Cys) single nucleotide variant Inborn genetic diseases [RCV004448233] Chr5:172338388 [GRCh38]
Chr5:171765392 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.391C>G (p.Pro131Ala) single nucleotide variant Inborn genetic diseases [RCV004448234] Chr5:172382046 [GRCh38]
Chr5:171809050 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2324T>C (p.Leu775Pro) single nucleotide variant Inborn genetic diseases [RCV004448231] Chr5:172338781 [GRCh38]
Chr5:171765785 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.559T>C (p.Ser187Pro) single nucleotide variant Inborn genetic diseases [RCV004448235] Chr5:172362738 [GRCh38]
Chr5:171789742 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1094T>C (p.Ile365Thr) single nucleotide variant Inborn genetic diseases [RCV004448223] Chr5:172346230 [GRCh38]
Chr5:171773234 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.106G>A (p.Gly36Ser) single nucleotide variant Inborn genetic diseases [RCV004666371] Chr5:172422466 [GRCh38]
Chr5:171849470 [GRCh37]
Chr5:5q35.1		 uncertain significance
NC_000005.9:g.(?_171765373)_(172662086_?)del deletion Atrial septal defect 7 [RCV004579004] Chr5:171765373..172662086 [GRCh37]
Chr5:5q35.1		 pathogenic
NC_000005.9:g.(?_171765373)_(172550225_?)del deletion not provided [RCV004580555] Chr5:171765373..172550225 [GRCh37]
Chr5:5q35.1		 pathogenic
NC_000005.9:g.(?_171821547)_(171821663_?)del deletion not provided [RCV004580558] Chr5:171821547..171821663 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.2681G>A (p.Gly894Glu) single nucleotide variant Inborn genetic diseases [RCV004666372] Chr5:172338424 [GRCh38]
Chr5:171765428 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2321C>T (p.Pro774Leu) single nucleotide variant Inborn genetic diseases [RCV004666369] Chr5:172338784 [GRCh38]
Chr5:171765788 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1467G>T (p.Lys489Asn) single nucleotide variant Inborn genetic diseases [RCV004667273] Chr5:172339638 [GRCh38]
Chr5:171766642 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1765del (p.Gln589fs) deletion SH3PXD2B-related disorder [RCV004732150] Chr5:172339340 [GRCh38]
Chr5:171766344 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.1256C>A (p.Ala419Asp) single nucleotide variant not provided [RCV004772538] Chr5:172339849 [GRCh38]
Chr5:171766853 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.664G>A (p.Glu222Lys) single nucleotide variant not provided [RCV004772539] Chr5:172358776 [GRCh38]
Chr5:171785780 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.591_592dup (p.Gln198fs) duplication not provided [RCV004599177] Chr5:172358847..172358848 [GRCh38]
Chr5:171785851..171785852 [GRCh37]
Chr5:5q35.1		 pathogenic
NM_001017995.3(SH3PXD2B):c.128G>A (p.Arg43Gln) single nucleotide variant not provided [RCV003332792] Chr5:172422444 [GRCh38]
Chr5:171849448 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.853C>G (p.Pro285Ala) single nucleotide variant Inborn genetic diseases [RCV004666368] Chr5:172350522 [GRCh38]
Chr5:171777526 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.425C>A (p.Ser142Tyr) single nucleotide variant Inborn genetic diseases [RCV004666374] Chr5:172373792 [GRCh38]
Chr5:171800796 [GRCh37]
Chr5:5q35.1		 uncertain significance
NM_001017995.3(SH3PXD2B):c.2542G>A (p.Asp848Asn) single nucleotide variant Inborn genetic diseases [RCV004666370] Chr5:172338563 [GRCh38]
Chr5:171765567 [GRCh37]
Chr5:5q35.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2903
Count of miRNA genes:1173
Interacting mature miRNAs:1473
Transcripts:ENST00000311601, ENST00000518522, ENST00000519643, ENST00000523651
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
407112244GWAS761220_Hwaist-hip ratio QTL GWAS761220 (human)1e-09waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)5172426154172426155Human
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human

Markers in Region
D5S1852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375171,830,791 - 171,830,920UniSTSGRCh37
Build 365171,763,396 - 171,763,525RGDNCBI36
Celera5167,862,670 - 167,862,799RGD
Cytogenetic Map5q35.1UniSTS
HuRef5166,926,297 - 166,926,426UniSTS
Whitehead-RH Map5533.7UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S2401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375171,799,841 - 171,800,091UniSTSGRCh37
Build 365171,732,446 - 171,732,696RGDNCBI36
Celera5167,831,721 - 167,831,971RGD
Cytogenetic Map5q35.1UniSTS
HuRef5166,895,351 - 166,895,601UniSTS
RH103701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375171,796,351 - 171,796,475UniSTSGRCh37
Build 365171,728,956 - 171,729,080RGDNCBI36
Celera5167,828,231 - 167,828,355RGD
Cytogenetic Map5q35.1UniSTS
HuRef5166,891,861 - 166,891,985UniSTS
GeneMap99-GB4 RH Map5634.89UniSTS
D5S2257E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375171,774,632 - 171,774,732UniSTSGRCh37
Build 365171,707,237 - 171,707,337RGDNCBI36
Celera5167,806,755 - 167,806,855RGD
Cytogenetic Map5q35.1UniSTS
HuRef5166,870,103 - 166,870,203UniSTS
RH65087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375171,760,511 - 171,760,755UniSTSGRCh37
Build 365171,693,116 - 171,693,360RGDNCBI36
Celera5167,792,634 - 167,792,877RGD
Cytogenetic Map5q35.1UniSTS
HuRef5166,855,979 - 166,856,222UniSTS
GeneMap99-GB4 RH Map5633.18UniSTS
NCBI RH Map5973.0UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 2438 2788 2246 4973 1726 2351 5 623 1830 465 2270 7187 6354 51 3733 1 851 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001017995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB430862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA308160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ109556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311601   ⟹   ENSP00000309714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5172,333,499 - 172,454,525 (-)Ensembl
Ensembl Acc Id: ENST00000518522   ⟹   ENSP00000428076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5172,333,499 - 172,350,386 (-)Ensembl
Ensembl Acc Id: ENST00000519643   ⟹   ENSP00000430890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5172,325,181 - 172,454,358 (-)Ensembl
Ensembl Acc Id: ENST00000523651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5172,333,499 - 172,334,235 (-)Ensembl
Ensembl Acc Id: ENST00000636523   ⟹   ENSP00000490082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5172,325,000 - 172,454,308 (-)Ensembl
RefSeq Acc Id: NM_001017995   ⟹   NP_001017995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385172,333,499 - 172,454,525 (-)NCBI
GRCh375171,752,185 - 171,881,527 (-)NCBI
Build 365171,693,108 - 171,814,132 (-)NCBI Archive
Celera5167,792,626 - 167,913,367 (-)RGD
HuRef5166,855,971 - 166,956,421 (-)ENTREZGENE
CHM1_15171,193,488 - 171,314,268 (-)NCBI
T2T-CHM13v2.05172,873,759 - 172,994,533 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308175   ⟹   NP_001295104
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385172,325,181 - 172,454,525 (-)NCBI
CHM1_15171,185,216 - 171,314,268 (-)NCBI
T2T-CHM13v2.05172,865,440 - 172,994,533 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009351   ⟹   XP_016864840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385172,333,499 - 172,454,525 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054352393   ⟹   XP_054208368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05172,873,759 - 172,994,533 (-)NCBI
RefSeq Acc Id: NP_001017995   ⟸   NM_001017995
- Peptide Label: isoform a
- UniProtKB: Q9P2Q1 (UniProtKB/Swiss-Prot),   A1X283 (UniProtKB/Swiss-Prot),   B6F0V2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295104   ⟸   NM_001308175
- Peptide Label: isoform b
- UniProtKB: A0A1B0GUF2 (UniProtKB/TrEMBL),   G3V144 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864840   ⟸   XM_017009351
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000490082   ⟸   ENST00000636523
Ensembl Acc Id: ENSP00000428076   ⟸   ENST00000518522
Ensembl Acc Id: ENSP00000430890   ⟸   ENST00000519643
Ensembl Acc Id: ENSP00000309714   ⟸   ENST00000311601
RefSeq Acc Id: XP_054208368   ⟸   XM_054352393
- Peptide Label: isoform X1
Protein Domains
PX   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A1X283-F1-model_v2 AlphaFold A1X283 1-911 view protein structure

Promoters
RGD ID:6803541
Promoter ID:HG_KWN:51788
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:ENST00000311601,   UC003MBS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365171,813,836 - 171,814,336 (-)MPROMDB
RGD ID:6871550
Promoter ID:EPDNEW_H8940
Type:initiation region
Name:SH3PXD2B_1
Description:SH3 and PX domains 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385172,454,513 - 172,454,573EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29242 AgrOrtholog
COSMIC SH3PXD2B COSMIC
Ensembl Genes ENSG00000174705 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311601 ENTREZGENE
  ENST00000311601.6 UniProtKB/Swiss-Prot
  ENST00000518522.5 UniProtKB/TrEMBL
  ENST00000519643 ENTREZGENE
  ENST00000519643.5 UniProtKB/TrEMBL
  ENST00000636523.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174705 GTEx
HGNC ID HGNC:29242 ENTREZGENE
Human Proteome Map SH3PXD2B Human Proteome Map
InterPro NADPH_Oxidase/PX-Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3PXD2_PX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3PXD2B_SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3PXD2B_SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3PXD2B_SH3_3 UniProtKB/Swiss-Prot
  SH3PXD2B_SH3_4 UniProtKB/Swiss-Prot
KEGG Report hsa:285590 UniProtKB/Swiss-Prot
NCBI Gene SH3PXD2B ENTREZGENE
OMIM 613293 OMIM
PANTHER SH3 AND PX DOMAIN-CONTAINING PROTEIN 2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 MULTIPLE DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_2 UniProtKB/Swiss-Prot
PharmGKB PA134864119 PharmGKB
PROSITE PS50195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF64268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GUF2 ENTREZGENE, UniProtKB/TrEMBL
  A1X283 ENTREZGENE
  B6F0V2 ENTREZGENE
  G3V144 ENTREZGENE, UniProtKB/TrEMBL
  H0YAU1_HUMAN UniProtKB/TrEMBL
  L8EC68_HUMAN UniProtKB/TrEMBL
  Q9P2Q1 ENTREZGENE
  SPD2B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B6F0V2 UniProtKB/Swiss-Prot
  Q9P2Q1 UniProtKB/Swiss-Prot