CEP57 (centrosomal protein 57) - Rat Genome Database

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Gene: CEP57 (centrosomal protein 57) Homo sapiens
Analyze
Symbol: CEP57
Name: centrosomal protein 57
RGD ID: 1602500
HGNC Page HGNC:30794
Description: Enables fibroblast growth factor binding activity and protein homodimerization activity. Involved in fibroblast growth factor receptor signaling pathway. Located in Golgi apparatus; cytosol; and microtubule cytoskeleton. Implicated in mosaic variegated aneuploidy syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: centrosomal protein 57kDa; centrosomal protein of 57 kDa; FGF2-interacting protein; KIAA0092; MVA2; PIG8; proliferation-inducing protein 8; testis-specific protein 57; translokin; TSP57
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL645568.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381195,790,498 - 95,832,693 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1195,789,965 - 95,832,693 (+)EnsemblGRCh38hg38GRCh38
GRCh371195,523,662 - 95,565,857 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,163,290 - 95,205,502 (+)NCBINCBI36Build 36hg18NCBI36
Celera1192,822,024 - 92,864,242 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBIHuRef
CHM1_11195,406,634 - 95,448,873 (+)NCBICHM1_1
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
CGP 52608  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
Enterolactone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
hydrogen peroxide  (EXP)
lead(0)  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
mitomycin C  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
phenytoin  (ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centriolar satellite  (IDA)
centrosome  (IBA,IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IDA,TAS)
Golgi apparatus  (IDA)
microtubule  (IDA,IEA)
nucleus  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of vision  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Ambiguous genitalia  (IAGP)
Aortic regurgitation  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Apnea  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blepharophimosis  (IAGP)
Bulbous nose  (IAGP)
Cafe-au-lait spot  (IAGP)
Cataract  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Colon cancer  (IAGP)
Corneal opacity  (IAGP)
Craniosynostosis  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duodenal atresia  (IAGP)
Epicanthus  (IAGP)
Epidermoid cyst  (IAGP)
Frontal bossing  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Holoprosencephaly  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased nuchal translucency  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal polyposis  (IAGP)
Intrauterine growth retardation  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Muscular dystrophy  (IAGP)
Myelodysplasia  (IAGP)
Narrow mouth  (IAGP)
Neoplasm  (IAGP)
Nephroblastoma  (IAGP)
Osteolysis  (IAGP)
Polyhydramnios  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent forehead  (IAGP)
Rhabdomyosarcoma  (IAGP)
Rhizomelia  (IAGP)
Round ear  (IAGP)
Seizure  (IAGP)
Severe intrauterine growth retardation  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Sleep apnea  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (IAGP)
Sparse hair  (IAGP)
Stomach cancer  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Temporal bossing  (IAGP)
Triangular face  (IAGP)
Vaginal neoplasm  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Wide nose  (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
Additional References at PubMed
PMID:7788527   PMID:7790358   PMID:10942595   PMID:11076968   PMID:12221128   PMID:12421765   PMID:12477932   PMID:12717444   PMID:12852856   PMID:12954732   PMID:14654843   PMID:14702039  
PMID:15489334   PMID:15607035   PMID:16344560   PMID:16462731   PMID:18029348   PMID:19322201   PMID:19804566   PMID:19913121   PMID:20195357   PMID:20628086   PMID:21306487   PMID:21399614  
PMID:21516116   PMID:21552266   PMID:21832049   PMID:21873635   PMID:22190034   PMID:22508265   PMID:23243019   PMID:23333316   PMID:23443559   PMID:23569207   PMID:23752268   PMID:24390342  
PMID:24457600   PMID:24613305   PMID:25416956   PMID:26496610   PMID:26561035   PMID:26743940   PMID:27107012   PMID:28514442   PMID:28700943   PMID:30804344   PMID:31515488   PMID:32152252  
PMID:32296183   PMID:32513696   PMID:32814053   PMID:32861809   PMID:32994395   PMID:33492359   PMID:33961781   PMID:34500087   PMID:35575683   PMID:35709258   PMID:36635612   PMID:36949045  
PMID:38857398  


Genomics

Comparative Map Data
CEP57
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381195,790,498 - 95,832,693 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1195,789,965 - 95,832,693 (+)EnsemblGRCh38hg38GRCh38
GRCh371195,523,662 - 95,565,857 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,163,290 - 95,205,502 (+)NCBINCBI36Build 36hg18NCBI36
Celera1192,822,024 - 92,864,242 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBIHuRef
CHM1_11195,406,634 - 95,448,873 (+)NCBICHM1_1
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBIT2T-CHM13v2.0
Cep57
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39913,717,979 - 13,738,698 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl913,719,088 - 13,738,403 (-)EnsemblGRCm39 Ensembl
GRCm38913,807,783 - 13,827,407 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl913,807,792 - 13,827,107 (-)EnsemblGRCm38mm10GRCm38
MGSCv37913,612,232 - 13,631,537 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36913,558,192 - 13,577,449 (-)NCBIMGSCv36mm8
Celera911,086,224 - 11,105,529 (-)NCBICelera
Cytogenetic Map9A1NCBI
cM Map93.49NCBI
Cep57
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8818,951,179 - 18,971,205 (-)NCBIGRCr8
mRatBN7.2810,669,588 - 10,689,257 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl810,669,590 - 10,689,249 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx814,656,395 - 14,676,043 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0812,954,121 - 12,973,769 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0810,930,498 - 10,950,158 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0812,335,430 - 12,355,425 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl812,335,432 - 12,355,091 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0812,285,706 - 12,305,716 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4810,608,688 - 10,627,914 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1810,608,258 - 10,628,586 (-)NCBI
Celera812,170,101 - 12,189,763 (-)NCBICelera
Cytogenetic Map8q12NCBI
Cep57
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955412638,718 - 693,837 (+)NCBIChiLan1.0ChiLan1.0
CEP57
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2996,635,265 - 96,796,834 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11197,727,216 - 97,888,280 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01190,795,277 - 90,838,166 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11194,322,862 - 94,365,643 (+)NCBIpanpan1.1PanPan1.1panPan2
CEP57
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1215,314,290 - 5,360,474 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl215,314,449 - 5,361,154 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha215,306,946 - 5,372,017 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0215,470,572 - 5,535,631 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl215,489,231 - 5,535,379 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1215,265,268 - 5,330,343 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0215,326,888 - 5,391,987 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0215,374,577 - 5,439,676 (-)NCBIUU_Cfam_GSD_1.0
Cep57
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494780,630,996 - 80,670,623 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367001,875,795 - 1,915,003 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367001,874,509 - 1,914,688 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP57
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl927,812,929 - 27,859,568 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1927,812,944 - 27,858,293 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2931,728,611 - 31,738,258 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP57
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1187,046,915 - 87,088,999 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl187,046,639 - 87,093,786 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604338,725,753 - 38,769,778 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep57
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473540,647,104 - 40,670,640 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP57
408 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del) deletion Mosaic variegated aneuploidy syndrome 2 [RCV000524965] Chr11:95831045..95831053 [GRCh38]
Chr11:95564209..95564217 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.510C>G (p.Ser170=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000554426] Chr11:95817792 [GRCh38]
Chr11:95550956 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.520_521del (p.Glu174fs) microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV000023668] Chr11:95817799..95817800 [GRCh38]
Chr11:95550963..95550964 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) duplication Mosaic variegated aneuploidy syndrome 1 [RCV000656492]|Mosaic variegated aneuploidy syndrome 2 [RCV000023669] Chr11:95827811..95827812 [GRCh38]
Chr11:95560979..95560989 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000023670] Chr11:95812970 [GRCh38]
Chr11:95546134 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.1008A>G (p.Val336=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000548978] Chr11:95827908 [GRCh38]
Chr11:95561072 [GRCh37]
Chr11:11q21		 likely benign
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3		 pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2		 pathogenic
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001331874]|not provided [RCV000171200] Chr11:95799275 [GRCh38]
Chr11:95532439 [GRCh37]
Chr11:11q21		 likely pathogenic|uncertain significance
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001331873] Chr11:95827915 [GRCh38]
Chr11:95561079 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001303037] Chr11:95827951 [GRCh38]
Chr11:95561115 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1306G>C (p.Glu436Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001348156] Chr11:95831059 [GRCh38]
Chr11:95564223 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1		 pathogenic
GRCh38/hg38 11q21(chr11:94324282-96081666)x3 copy number gain See cases [RCV000134847] Chr11:94324282..96081666 [GRCh38]
Chr11:94057448..95814830 [GRCh37]
Chr11:93697096..95454478 [NCBI36]
Chr11:11q21		 uncertain significance
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3		 pathogenic
NM_014679.5(CEP57):c.1099T>A (p.Leu367Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001211684] Chr11:95827999 [GRCh38]
Chr11:95561163 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q21(chr11:94696615-95528715)x3 copy number gain Breast ductal adenocarcinoma [RCV000207047] Chr11:94696615..95528715 [GRCh37]
Chr11:11q21		 pathogenic|likely pathogenic|uncertain significance
NM_014679.5(CEP57):c.1036T>C (p.Leu346=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000232418]|not provided [RCV003389767] Chr11:95827936 [GRCh38]
Chr11:95561100 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.4G>A (p.Ala2Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000234087] Chr11:95790702 [GRCh38]
Chr11:95523866 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.807+3G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000228983] Chr11:95821981 [GRCh38]
Chr11:95555145 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.917A>G (p.Asn306Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000555389] Chr11:95827817 [GRCh38]
Chr11:95560981 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1420_1421del (p.Arg474fs) deletion not provided [RCV001092186] Chr11:95831173..95831174 [GRCh38]
Chr11:95564337..95564338 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.422A>G (p.Asn141Ser) single nucleotide variant Inborn genetic diseases [RCV003258870]|Mosaic variegated aneuploidy syndrome 2 [RCV000541957] Chr11:95813507 [GRCh38]
Chr11:95546671 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q21(chr11:95512235-95991687)x3 copy number gain See cases [RCV000449162] Chr11:95512235..95991687 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 pathogenic
NM_014679.5(CEP57):c.798A>G (p.Pro266=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000466460] Chr11:95821969 [GRCh38]
Chr11:95555133 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.333G>C (p.Gln111His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000470895]|not provided [RCV003222001]|not specified [RCV001355036] Chr11:95813062 [GRCh38]
Chr11:95546226 [GRCh37]
Chr11:11q21		 benign|likely benign
NM_014679.5(CEP57):c.1214T>C (p.Val405Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000475407] Chr11:95829273 [GRCh38]
Chr11:95562437 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.520G>C (p.Glu174Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000468184] Chr11:95817802 [GRCh38]
Chr11:95550966 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.451C>A (p.Arg151=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000471978] Chr11:95813536 [GRCh38]
Chr11:95546700 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.753G>A (p.Pro251=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000457115] Chr11:95821924 [GRCh38]
Chr11:95555088 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.572T>A (p.Leu191His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000461384]|not provided [RCV003237867] Chr11:95817854 [GRCh38]
Chr11:95551018 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.925C>T (p.Leu309Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000531423] Chr11:95827825 [GRCh38]
Chr11:95560989 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.807+8G>A single nucleotide variant CEP57-related disorder [RCV003942541]|Mosaic variegated aneuploidy syndrome 2 [RCV000458740]|not provided [RCV004584721] Chr11:95821986 [GRCh38]
Chr11:95555150 [GRCh37]
Chr11:11q21		 benign|likely benign
NM_014679.5(CEP57):c.979A>G (p.Ile327Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000462676] Chr11:95827879 [GRCh38]
Chr11:95561043 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.724del (p.Arg242fs) deletion Mosaic variegated aneuploidy syndrome [RCV000498788] Chr11:95821895 [GRCh38]
Chr11:95555059 [GRCh37]
Chr11:11q21		 pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_014679.5(CEP57):c.751C>T (p.Pro251Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000538321] Chr11:95821922 [GRCh38]
Chr11:95555086 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.677G>A (p.Arg226His) single nucleotide variant CEP57-related disorder [RCV003935493]|Mosaic variegated aneuploidy syndrome 2 [RCV000525894] Chr11:95818882 [GRCh38]
Chr11:95552046 [GRCh37]
Chr11:11q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014679.5(CEP57):c.503A>T (p.Gln168Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649339] Chr11:95813588 [GRCh38]
Chr11:95546752 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.65C>T (p.Ser22Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649340] Chr11:95799251 [GRCh38]
Chr11:95532415 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649341] Chr11:95827958 [GRCh38]
Chr11:95561122 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.787A>C (p.Lys263Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649342] Chr11:95821958 [GRCh38]
Chr11:95555122 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1292A>C (p.Glu431Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649343] Chr11:95831045 [GRCh38]
Chr11:95564209 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.373C>T (p.His125Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649344] Chr11:95813102 [GRCh38]
Chr11:95546266 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) single nucleotide variant Inborn genetic diseases [RCV002530531]|Mosaic variegated aneuploidy syndrome 2 [RCV000649345] Chr11:95799281 [GRCh38]
Chr11:95532445 [GRCh37]
Chr11:11q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014679.5(CEP57):c.26C>T (p.Ala9Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649346] Chr11:95790724 [GRCh38]
Chr11:95523888 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.448A>T (p.Met150Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649347] Chr11:95813533 [GRCh38]
Chr11:95546697 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.926T>G (p.Leu309Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649348] Chr11:95827826 [GRCh38]
Chr11:95560990 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.23C>T (p.Ala8Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649349] Chr11:95790721 [GRCh38]
Chr11:95523885 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.89G>A (p.Arg30Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649350] Chr11:95799275 [GRCh38]
Chr11:95532439 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1065T>C (p.Gly355=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649351] Chr11:95827965 [GRCh38]
Chr11:95561129 [GRCh37]
Chr11:11q21		 likely benign
GRCh37/hg19 11q21(chr11:95512235-95991687)x3 copy number gain not provided [RCV000683337] Chr11:95512235..95991687 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
NM_014679.5(CEP57):c.1160A>C (p.Glu387Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000699935] Chr11:95829219 [GRCh38]
Chr11:95562383 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.505-9_505-6del deletion Mosaic variegated aneuploidy syndrome 2 [RCV000692901] Chr11:95817776..95817779 [GRCh38]
Chr11:95550940..95550943 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.88C>T (p.Arg30Trp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000691915] Chr11:95799274 [GRCh38]
Chr11:95532438 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1450A>C (p.Met484Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000703940] Chr11:95831203 [GRCh38]
Chr11:95564367 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1057T>A (p.Ser353Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000707386] Chr11:95827957 [GRCh38]
Chr11:95561121 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.949C>T (p.His317Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000702698] Chr11:95827849 [GRCh38]
Chr11:95561013 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000696209] Chr11:95828017 [GRCh38]
Chr11:95561181 [GRCh37]
Chr11:11q21		 pathogenic|uncertain significance
NM_014679.5(CEP57):c.1273C>T (p.Leu425=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000697740] Chr11:95831026 [GRCh38]
Chr11:95564190 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.50G>C (p.Ser17Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000705995] Chr11:95799236 [GRCh38]
Chr11:95532400 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.836_838del (p.Gln279del) deletion Mosaic variegated aneuploidy syndrome 2 [RCV000703728]|not provided [RCV003227838] Chr11:95822525..95822527 [GRCh38]
Chr11:95555689..95555691 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000988625] Chr11:95831095 [GRCh38]
Chr11:95564259 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.985A>G (p.Ser329Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000867602] Chr11:95827885 [GRCh38]
Chr11:95561049 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.426A>G (p.Leu142=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000865834] Chr11:95813511 [GRCh38]
Chr11:95546675 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.540A>G (p.Thr180=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001480814] Chr11:95817822 [GRCh38]
Chr11:95550986 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.501A>G (p.Lys167=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000866156]|not provided [RCV003392645] Chr11:95813586 [GRCh38]
Chr11:95546750 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1020T>C (p.Gly340=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000868163] Chr11:95827920 [GRCh38]
Chr11:95561084 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.258G>C (p.Glu86Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001051455] Chr11:95812987 [GRCh38]
Chr11:95546151 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.833C>T (p.Ala278Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001041245] Chr11:95822524 [GRCh38]
Chr11:95555688 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu) indel Mosaic variegated aneuploidy syndrome 2 [RCV001061908] Chr11:95827975..95827976 [GRCh38]
Chr11:95561139..95561140 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001048531] Chr11:95827946 [GRCh38]
Chr11:95561110 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1281_1295del (p.425LEKQK[1]) deletion Mosaic variegated aneuploidy syndrome 2 [RCV001047227] Chr11:95831029..95831043 [GRCh38]
Chr11:95564193..95564207 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.39C>G (p.His13Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001037335] Chr11:95790737 [GRCh38]
Chr11:95523901 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.244C>T (p.Arg82Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001060429]|not provided [RCV003227907] Chr11:95812973 [GRCh38]
Chr11:95546137 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.471C>T (p.Ala157=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000872288] Chr11:95813556 [GRCh38]
Chr11:95546720 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.669A>G (p.Glu223=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000864251] Chr11:95818874 [GRCh38]
Chr11:95552038 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1074G>A (p.Glu358=) single nucleotide variant not provided [RCV000867509] Chr11:95827974 [GRCh38]
Chr11:95561138 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1062C>T (p.Asn354=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000865785] Chr11:95827962 [GRCh38]
Chr11:95561126 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000797548] Chr11:95813536 [GRCh38]
Chr11:95546700 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.670A>G (p.Arg224Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000793736] Chr11:95818875 [GRCh38]
Chr11:95552039 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.174A>G (p.Thr58=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001456500] Chr11:95799360 [GRCh38]
Chr11:95532524 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer) deletion Mosaic variegated aneuploidy syndrome 2 [RCV000791171] Chr11:95831155 [GRCh38]
Chr11:95564319 [GRCh37]
Chr11:11q21		 likely pathogenic
NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000818353] Chr11:95829224 [GRCh38]
Chr11:95562388 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1272+4A>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000812499] Chr11:95829335 [GRCh38]
Chr11:95562499 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr) single nucleotide variant Inborn genetic diseases [RCV004027554]|Mosaic variegated aneuploidy syndrome 2 [RCV000796113] Chr11:95790723 [GRCh38]
Chr11:95523887 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.382+10_382+12del microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV002547274] Chr11:95813118..95813120 [GRCh38]
Chr11:95546282..95546284 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.122C>T (p.Ser41Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000795242] Chr11:95799308 [GRCh38]
Chr11:95532472 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.335T>A (p.Ile112Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001067749] Chr11:95813064 [GRCh38]
Chr11:95546228 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) single nucleotide variant CEP57-related disorder [RCV003955597]|Mosaic variegated aneuploidy syndrome 2 [RCV000863097] Chr11:95821935 [GRCh38]
Chr11:95555099 [GRCh37]
Chr11:11q21		 likely benign|conflicting interpretations of pathogenicity
NM_014679.5(CEP57):c.366A>C (p.Glu122Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000793450] Chr11:95813095 [GRCh38]
Chr11:95546259 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000822246] Chr11:95831156 [GRCh38]
Chr11:95564320 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.701T>G (p.Leu234Trp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000805836] Chr11:95821872 [GRCh38]
Chr11:95555036 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.808-6A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000862508] Chr11:95822493 [GRCh38]
Chr11:95555657 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.458T>C (p.Met153Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000823529] Chr11:95813543 [GRCh38]
Chr11:95546707 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.46-9A>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001464532] Chr11:95799223 [GRCh38]
Chr11:95532387 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.621+7G>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001479465] Chr11:95817910 [GRCh38]
Chr11:95551074 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.170C>G (p.Pro57Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001045778] Chr11:95799356 [GRCh38]
Chr11:95532520 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.723T>G (p.Asn241Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001068270]|not provided [RCV001760045] Chr11:95821894 [GRCh38]
Chr11:95555058 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1286dup (p.Leu430fs) duplication Mosaic variegated aneuploidy syndrome 2 [RCV001208203] Chr11:95831037..95831038 [GRCh38]
Chr11:95564201..95564202 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1433T>A (p.Leu478His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001225723] Chr11:95831186 [GRCh38]
Chr11:95564350 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001203012] Chr11:95827921 [GRCh38]
Chr11:95561085 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1172T>C (p.Val391Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216936] Chr11:95829231 [GRCh38]
Chr11:95562395 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.896C>G (p.Pro299Arg) single nucleotide variant Inborn genetic diseases [RCV004033773]|Mosaic variegated aneuploidy syndrome 2 [RCV001209416] Chr11:95827796 [GRCh38]
Chr11:95560960 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1246A>G (p.Thr416Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001235094] Chr11:95829305 [GRCh38]
Chr11:95562469 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.365A>C (p.Glu122Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001227202] Chr11:95813094 [GRCh38]
Chr11:95546258 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.524G>A (p.Arg175Gln) single nucleotide variant Inborn genetic diseases [RCV004609687]|Mosaic variegated aneuploidy syndrome 2 [RCV001232498] Chr11:95817806 [GRCh38]
Chr11:95550970 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001238551] Chr11:95831249 [GRCh38]
Chr11:95564413 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.31G>C (p.Gly11Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001247749] Chr11:95790729 [GRCh38]
Chr11:95523893 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.226C>G (p.Leu76Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001068875] Chr11:95812955 [GRCh38]
Chr11:95546119 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.56C>G (p.Ala19Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003104648] Chr11:95799242 [GRCh38]
Chr11:95532406 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.36T>A (p.Ser12=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002065797] Chr11:95790734 [GRCh38]
Chr11:95523898 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.51C>T (p.Ser17=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001421128] Chr11:95799237 [GRCh38]
Chr11:95532401 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1272+7_1272+8del deletion Mosaic variegated aneuploidy syndrome 2 [RCV000863797] Chr11:95829338..95829339 [GRCh38]
Chr11:95562502..95562503 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.46-8T>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001422428] Chr11:95799224 [GRCh38]
Chr11:95532388 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1104G>A (p.Gln368=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001434616] Chr11:95828004 [GRCh38]
Chr11:95561168 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.841C>T (p.His281Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001214046] Chr11:95822532 [GRCh38]
Chr11:95555696 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro) single nucleotide variant Inborn genetic diseases [RCV004609674]|Mosaic variegated aneuploidy syndrome 2 [RCV001222185] Chr11:95799286 [GRCh38]
Chr11:95532450 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.245G>A (p.Arg82His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001218977] Chr11:95812974 [GRCh38]
Chr11:95546138 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.626A>C (p.Lys209Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001226300] Chr11:95818831 [GRCh38]
Chr11:95551995 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001231981] Chr11:95827945 [GRCh38]
Chr11:95561109 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001208038] Chr11:95829306 [GRCh38]
Chr11:95562470 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.575T>C (p.Leu192Pro) single nucleotide variant Inborn genetic diseases [RCV003294070]|Mosaic variegated aneuploidy syndrome 2 [RCV001223441] Chr11:95817857 [GRCh38]
Chr11:95551021 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001051083] Chr11:95831047 [GRCh38]
Chr11:95564211 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216919] Chr11:95829255 [GRCh38]
Chr11:95562419 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.440T>C (p.Leu147Ser) single nucleotide variant Inborn genetic diseases [RCV003163769]|Mosaic variegated aneuploidy syndrome 2 [RCV001227376] Chr11:95813525 [GRCh38]
Chr11:95546689 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.478G>A (p.Glu160Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001221155] Chr11:95813563 [GRCh38]
Chr11:95546727 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.292T>C (p.Ser98Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001235154] Chr11:95813021 [GRCh38]
Chr11:95546185 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.918T>A (p.Asn306Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001070356] Chr11:95827818 [GRCh38]
Chr11:95560982 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.746C>T (p.Ala249Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001069045] Chr11:95821917 [GRCh38]
Chr11:95555081 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1273-7G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001034951] Chr11:95831019 [GRCh38]
Chr11:95564183 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.581A>G (p.Gln194Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001204759] Chr11:95817863 [GRCh38]
Chr11:95551027 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.680T>C (p.Met227Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001229421] Chr11:95818885 [GRCh38]
Chr11:95552049 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser) single nucleotide variant Inborn genetic diseases [RCV004033566]|Mosaic variegated aneuploidy syndrome 2 [RCV001203249] Chr11:95827963 [GRCh38]
Chr11:95561127 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001201435] Chr11:95827975 [GRCh38]
Chr11:95561139 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1123A>C (p.Ser375Arg) single nucleotide variant Inborn genetic diseases [RCV003166558]|Mosaic variegated aneuploidy syndrome 2 [RCV001247328] Chr11:95828023 [GRCh38]
Chr11:95561187 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.504A>G (p.Gln168=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001234904] Chr11:95813589 [GRCh38]
Chr11:95546753 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1122G>T (p.Met374Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001212986] Chr11:95828022 [GRCh38]
Chr11:95561186 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.382+4T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001057492] Chr11:95813115 [GRCh38]
Chr11:95546279 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001205462] Chr11:95821949 [GRCh38]
Chr11:95555113 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.559G>A (p.Glu187Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216680] Chr11:95817841 [GRCh38]
Chr11:95551005 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.410A>C (p.Glu137Ala) single nucleotide variant Inborn genetic diseases [RCV002567904]|Mosaic variegated aneuploidy syndrome 2 [RCV001236157] Chr11:95813495 [GRCh38]
Chr11:95546659 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.304A>G (p.Ile102Val) single nucleotide variant Inborn genetic diseases [RCV004033663]|Mosaic variegated aneuploidy syndrome 2 [RCV001206033] Chr11:95813033 [GRCh38]
Chr11:95546197 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.542A>G (p.His181Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001214958] Chr11:95817824 [GRCh38]
Chr11:95550988 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001230813] Chr11:95822515 [GRCh38]
Chr11:95555679 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1063G>T (p.Gly355Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001248341] Chr11:95827963 [GRCh38]
Chr11:95561127 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.88C>A (p.Arg30=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001038307] Chr11:95799274 [GRCh38]
Chr11:95532438 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001071761] Chr11:95827931 [GRCh38]
Chr11:95561095 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.552C>A (p.Ser184Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216182] Chr11:95817834 [GRCh38]
Chr11:95550998 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.846T>C (p.Tyr282=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001211713] Chr11:95822537 [GRCh38]
Chr11:95555701 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.145G>A (p.Asp49Asn) single nucleotide variant Inborn genetic diseases [RCV003160515]|Mosaic variegated aneuploidy syndrome 2 [RCV001063077] Chr11:95799331 [GRCh38]
Chr11:95532495 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.382+2T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001255701] Chr11:95813113 [GRCh38]
Chr11:95546277 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.896C>A (p.Pro299His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001294116] Chr11:95827796 [GRCh38]
Chr11:95560960 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001305457] Chr11:95829279 [GRCh38]
Chr11:95562443 [GRCh37]
Chr11:11q21		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_014679.5(CEP57):c.599C>A (p.Thr200Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001316702] Chr11:95817881 [GRCh38]
Chr11:95551045 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001296714] Chr11:95813529 [GRCh38]
Chr11:95546693 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn) single nucleotide variant Inborn genetic diseases [RCV003284153]|Mosaic variegated aneuploidy syndrome 2 [RCV001301964] Chr11:95831237 [GRCh38]
Chr11:95564401 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.550A>G (p.Ser184Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001302308] Chr11:95817832 [GRCh38]
Chr11:95550996 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001307987] Chr11:95827928 [GRCh38]
Chr11:95561092 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.704A>G (p.Gln235Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001361421] Chr11:95821875 [GRCh38]
Chr11:95555039 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.732C>A (p.Ile244=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001433129] Chr11:95821903 [GRCh38]
Chr11:95555067 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001292716] Chr11:95831110 [GRCh38]
Chr11:95564274 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.233A>G (p.Asp78Gly) single nucleotide variant Inborn genetic diseases [RCV002538417]|Mosaic variegated aneuploidy syndrome 2 [RCV001292895] Chr11:95812962 [GRCh38]
Chr11:95546126 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.202+6C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001370620] Chr11:95799394 [GRCh38]
Chr11:95532558 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.657A>G (p.Glu219=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001392630] Chr11:95818862 [GRCh38]
Chr11:95552026 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.205A>G (p.Ile69Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001362265] Chr11:95812934 [GRCh38]
Chr11:95546098 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.601A>G (p.Thr201Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001368376] Chr11:95817883 [GRCh38]
Chr11:95551047 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001308719] Chr11:95829266 [GRCh38]
Chr11:95562430 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.217C>T (p.Leu73Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001307725] Chr11:95812946 [GRCh38]
Chr11:95546110 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001307858] Chr11:95831206 [GRCh38]
Chr11:95564370 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.337C>G (p.Gln113Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001361813] Chr11:95813066 [GRCh38]
Chr11:95546230 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.32G>T (p.Gly11Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001363605] Chr11:95790730 [GRCh38]
Chr11:95523894 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.263T>C (p.Ile88Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001299701] Chr11:95812992 [GRCh38]
Chr11:95546156 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001324438] Chr11:95827984 [GRCh38]
Chr11:95561148 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1163C>T (p.Ser388Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001362499] Chr11:95829222 [GRCh38]
Chr11:95562386 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001338313] Chr11:95831219 [GRCh38]
Chr11:95564383 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.676C>T (p.Arg226Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001367395] Chr11:95818881 [GRCh38]
Chr11:95552045 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.742A>G (p.Lys248Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001368788] Chr11:95821913 [GRCh38]
Chr11:95555077 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.111A>G (p.Val37=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001421519] Chr11:95799297 [GRCh38]
Chr11:95532461 [GRCh37]
Chr11:11q21		 likely benign
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1		 pathogenic
NM_014679.5(CEP57):c.752C>T (p.Pro251Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001326070] Chr11:95821923 [GRCh38]
Chr11:95555087 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1272+10T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001472947] Chr11:95829341 [GRCh38]
Chr11:95562505 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.48C>T (p.Asn16=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001504064] Chr11:95799234 [GRCh38]
Chr11:95532398 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.90G>C (p.Arg30=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001435532] Chr11:95799276 [GRCh38]
Chr11:95532440 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.711T>A (p.Gly237=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001457001] Chr11:95821882 [GRCh38]
Chr11:95555046 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1164G>A (p.Ser388=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001455010] Chr11:95829223 [GRCh38]
Chr11:95562387 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.561A>G (p.Glu187=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001475931] Chr11:95817843 [GRCh38]
Chr11:95551007 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1404G>C (p.Leu468=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001446384] Chr11:95831157 [GRCh38]
Chr11:95564321 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.138T>G (p.Leu46=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001441301] Chr11:95799324 [GRCh38]
Chr11:95532488 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.645A>G (p.Ala215=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001410390] Chr11:95818850 [GRCh38]
Chr11:95552014 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.46-10T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001442052] Chr11:95799222 [GRCh38]
Chr11:95532386 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1233A>G (p.Lys411=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001409019] Chr11:95829292 [GRCh38]
Chr11:95562456 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.700-4C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001462208] Chr11:95821867 [GRCh38]
Chr11:95555031 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.75T>C (p.Asn25=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001460309] Chr11:95799261 [GRCh38]
Chr11:95532425 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1137G>A (p.Gln379=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001470761] Chr11:95829196 [GRCh38]
Chr11:95562360 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1134C>T (p.His378=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001488504] Chr11:95829193 [GRCh38]
Chr11:95562357 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1170C>T (p.Thr390=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001490564] Chr11:95829229 [GRCh38]
Chr11:95562393 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.516A>G (p.Glu172=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001457765] Chr11:95817798 [GRCh38]
Chr11:95550962 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.909G>A (p.Val303=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001481921] Chr11:95827809 [GRCh38]
Chr11:95560973 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1377C>T (p.Thr459=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001404064]|not provided [RCV003389871] Chr11:95831130 [GRCh38]
Chr11:95564294 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.753G>C (p.Pro251=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001466169] Chr11:95821924 [GRCh38]
Chr11:95555088 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.565T>C (p.Leu189=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001423714] Chr11:95817847 [GRCh38]
Chr11:95551011 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1329T>G (p.Thr443=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001399839] Chr11:95831082 [GRCh38]
Chr11:95564246 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.552C>T (p.Ser184=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001432875] Chr11:95817834 [GRCh38]
Chr11:95550998 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.303A>G (p.Thr101=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001418337] Chr11:95813032 [GRCh38]
Chr11:95546196 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.968A>G (p.Asn323Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001928925] Chr11:95827868 [GRCh38]
Chr11:95561032 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1127+3G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001864629] Chr11:95828030 [GRCh38]
Chr11:95561194 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.486A>G (p.Thr162=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001987004] Chr11:95813571 [GRCh38]
Chr11:95546735 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1364G>A (p.Gly455Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001896437] Chr11:95831117 [GRCh38]
Chr11:95564281 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.461T>C (p.Ile154Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001915081] Chr11:95813546 [GRCh38]
Chr11:95546710 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1029T>A (p.Ser343Arg) single nucleotide variant Inborn genetic diseases [RCV004039625]|Mosaic variegated aneuploidy syndrome 2 [RCV001863881] Chr11:95827929 [GRCh38]
Chr11:95561093 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.684A>C (p.Gln228His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001926916] Chr11:95818889 [GRCh38]
Chr11:95552053 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.452G>A (p.Arg151Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002040059] Chr11:95813537 [GRCh38]
Chr11:95546701 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.502C>A (p.Gln168Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001910030] Chr11:95813587 [GRCh38]
Chr11:95546751 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.3G>A (p.Met1Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001893359] Chr11:95790701 [GRCh38]
Chr11:95523865 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NM_014679.5(CEP57):c.621+9A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001947627] Chr11:95817912 [GRCh38]
Chr11:95551076 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1354A>C (p.Ser452Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001893311] Chr11:95831107 [GRCh38]
Chr11:95564271 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q21(chr11:95512235-95991687) copy number gain not specified [RCV002052951] Chr11:95512235..95991687 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1		 pathogenic
NM_014679.5(CEP57):c.347A>G (p.Glu116Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001926981] Chr11:95813076 [GRCh38]
Chr11:95546240 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.98C>T (p.Ser33Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001985071] Chr11:95799284 [GRCh38]
Chr11:95532448 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.154C>T (p.Arg52Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001829265] Chr11:95799340 [GRCh38]
Chr11:95532504 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.378T>A (p.Asn126Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001927075] Chr11:95813107 [GRCh38]
Chr11:95546271 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.628A>T (p.Met210Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001948363] Chr11:95818833 [GRCh38]
Chr11:95551997 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001945909] Chr11:95829246 [GRCh38]
Chr11:95562410 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.131C>T (p.Pro44Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001908966] Chr11:95799317 [GRCh38]
Chr11:95532481 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1009T>C (p.Ser337Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002004028] Chr11:95827909 [GRCh38]
Chr11:95561073 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 pathogenic
NC_000011.9:g.(?_95550941)_(95551077_?)del deletion Mosaic variegated aneuploidy syndrome 2 [RCV001943063] Chr11:95550941..95551077 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.358A>G (p.Asn120Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001888464] Chr11:95813087 [GRCh38]
Chr11:95546251 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1231A>G (p.Lys411Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001943219] Chr11:95829290 [GRCh38]
Chr11:95562454 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1488G>C (p.Leu496Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001999515] Chr11:95831241 [GRCh38]
Chr11:95564405 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.155G>A (p.Arg52His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001943524] Chr11:95799341 [GRCh38]
Chr11:95532505 [GRCh37]
Chr11:11q21		 uncertain significance
NC_000011.9:g.(?_95523863)_(95569448_?)dup duplication Mosaic variegated aneuploidy syndrome 2 [RCV001922959] Chr11:95523863..95569448 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.29C>T (p.Ser10Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002011535] Chr11:95790727 [GRCh38]
Chr11:95523891 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.11C>G (p.Ala4Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001936299] Chr11:95790709 [GRCh38]
Chr11:95523873 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1339G>A (p.Glu447Lys) single nucleotide variant Inborn genetic diseases [RCV004045467]|Mosaic variegated aneuploidy syndrome 2 [RCV002028265] Chr11:95831092 [GRCh38]
Chr11:95564256 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1174G>A (p.Glu392Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001953248] Chr11:95829233 [GRCh38]
Chr11:95562397 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1334A>G (p.Asp445Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001958382] Chr11:95831087 [GRCh38]
Chr11:95564251 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1212A>C (p.Leu404Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002051082] Chr11:95829271 [GRCh38]
Chr11:95562435 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.566T>C (p.Leu189Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001954689] Chr11:95817848 [GRCh38]
Chr11:95551012 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1000A>G (p.Lys334Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001977044] Chr11:95827900 [GRCh38]
Chr11:95561064 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.8C>T (p.Ala3Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001930283] Chr11:95790706 [GRCh38]
Chr11:95523870 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.974G>A (p.Arg325Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001897173] Chr11:95827874 [GRCh38]
Chr11:95561038 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.858G>T (p.Leu286Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001936210] Chr11:95822549 [GRCh38]
Chr11:95555713 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.818G>T (p.Arg273Met) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001982352] Chr11:95822509 [GRCh38]
Chr11:95555673 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.821A>G (p.Asn274Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001917859] Chr11:95822512 [GRCh38]
Chr11:95555676 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.185C>T (p.Pro62Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001954463] Chr11:95799371 [GRCh38]
Chr11:95532535 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1256G>A (p.Arg419Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001953291] Chr11:95829315 [GRCh38]
Chr11:95562479 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.45+5G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001980799] Chr11:95790748 [GRCh38]
Chr11:95523912 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.37C>T (p.His13Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001977283] Chr11:95790735 [GRCh38]
Chr11:95523899 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.544G>A (p.Val182Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001991891] Chr11:95817826 [GRCh38]
Chr11:95550990 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.523C>T (p.Arg175Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001923710] Chr11:95817805 [GRCh38]
Chr11:95550969 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.152G>A (p.Arg51Gln) single nucleotide variant Inborn genetic diseases [RCV004044537]|Mosaic variegated aneuploidy syndrome 2 [RCV001998083] Chr11:95799338 [GRCh38]
Chr11:95532502 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.767C>T (p.Ala256Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001930740] Chr11:95821938 [GRCh38]
Chr11:95555102 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.628A>G (p.Met210Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001955427] Chr11:95818833 [GRCh38]
Chr11:95551997 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1171G>A (p.Val391Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001952870] Chr11:95829230 [GRCh38]
Chr11:95562394 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.504+5G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002048642] Chr11:95813594 [GRCh38]
Chr11:95546758 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.123G>A (p.Ser41=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001903597] Chr11:95799309 [GRCh38]
Chr11:95532473 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.515A>G (p.Glu172Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002034207] Chr11:95817797 [GRCh38]
Chr11:95550961 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.242G>A (p.Arg81Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001924103] Chr11:95812971 [GRCh38]
Chr11:95546135 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1415A>G (p.Glu472Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002019625] Chr11:95831168 [GRCh38]
Chr11:95564332 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1208C>T (p.Ala403Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001959443] Chr11:95829267 [GRCh38]
Chr11:95562431 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.472G>A (p.Glu158Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001938158] Chr11:95813557 [GRCh38]
Chr11:95546721 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs) microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV002018757] Chr11:95831164..95831173 [GRCh38]
Chr11:95564328..95564337 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.923A>G (p.Gln308Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001937546] Chr11:95827823 [GRCh38]
Chr11:95560987 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.880G>A (p.Gly294Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001936316] Chr11:95822571 [GRCh38]
Chr11:95555735 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.885+19G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002029268] Chr11:95822595 [GRCh38]
Chr11:95555759 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.45+16C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001930760] Chr11:95790759 [GRCh38]
Chr11:95523923 [GRCh37]
Chr11:11q21		 likely benign|uncertain significance
NM_014679.5(CEP57):c.1282C>G (p.Gln428Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002033705] Chr11:95831035 [GRCh38]
Chr11:95564199 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.723T>C (p.Asn241=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002127924] Chr11:95821894 [GRCh38]
Chr11:95555058 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.886-7C>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002149008] Chr11:95827779 [GRCh38]
Chr11:95560943 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1128-4A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002112044] Chr11:95829183 [GRCh38]
Chr11:95562347 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.46-9A>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002105951] Chr11:95799223 [GRCh38]
Chr11:95532387 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.150A>C (p.Leu50=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002106868] Chr11:95799336 [GRCh38]
Chr11:95532500 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1374G>A (p.Gly458=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002205552] Chr11:95831127 [GRCh38]
Chr11:95564291 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1127+11_1127+14del deletion Mosaic variegated aneuploidy syndrome 2 [RCV002112296] Chr11:95828035..95828038 [GRCh38]
Chr11:95561199..95561202 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.885+18C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002071386] Chr11:95822594 [GRCh38]
Chr11:95555758 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.383-11A>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002094686] Chr11:95813457 [GRCh38]
Chr11:95546621 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.555A>G (p.Gln185=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002170973] Chr11:95817837 [GRCh38]
Chr11:95551001 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1128-4A>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002174977] Chr11:95829183 [GRCh38]
Chr11:95562347 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1392T>C (p.Asp464=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002212092] Chr11:95831145 [GRCh38]
Chr11:95564309 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1128-10T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002085251] Chr11:95829177 [GRCh38]
Chr11:95562341 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.918T>C (p.Asn306=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002096589] Chr11:95827818 [GRCh38]
Chr11:95560982 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.382+20T>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002115933] Chr11:95813131 [GRCh38]
Chr11:95546295 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.1078T>C (p.Leu360=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002148257] Chr11:95827978 [GRCh38]
Chr11:95561142 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.144T>C (p.Ser48=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002114180] Chr11:95799330 [GRCh38]
Chr11:95532494 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1273-14G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002193703] Chr11:95831012 [GRCh38]
Chr11:95564176 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1344A>G (p.Arg448=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002134056] Chr11:95831097 [GRCh38]
Chr11:95564261 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.504+19A>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002140705] Chr11:95813608 [GRCh38]
Chr11:95546772 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1099T>C (p.Leu367=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002177239] Chr11:95827999 [GRCh38]
Chr11:95561163 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.15T>G (p.Ser5=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002141504] Chr11:95790713 [GRCh38]
Chr11:95523877 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.46-11T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002120541] Chr11:95799221 [GRCh38]
Chr11:95532385 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1272+12T>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002137886] Chr11:95829343 [GRCh38]
Chr11:95562507 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.417A>G (p.Lys139=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002098637] Chr11:95813502 [GRCh38]
Chr11:95546666 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.63A>G (p.Pro21=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002177924] Chr11:95799249 [GRCh38]
Chr11:95532413 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.633A>G (p.Gln211=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002180877] Chr11:95818838 [GRCh38]
Chr11:95552002 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1209A>C (p.Ala403=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002120074] Chr11:95829268 [GRCh38]
Chr11:95562432 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.622-9dup duplication Mosaic variegated aneuploidy syndrome 2 [RCV002159009] Chr11:95818813..95818814 [GRCh38]
Chr11:95551977..95551978 [GRCh37]
Chr11:11q21		 benign
NM_014679.5(CEP57):c.427T>C (p.Leu143=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002102725] Chr11:95813512 [GRCh38]
Chr11:95546676 [GRCh37]
Chr11:11q21		 likely benign
NC_000011.9:g.(?_95549619)_(95562458_?)del deletion Mosaic variegated aneuploidy syndrome 2 [RCV003116759] Chr11:95549619..95562458 [GRCh37]
Chr11:11q21		 likely pathogenic
NC_000011.9:g.(?_95523863)_(95564420_?)del deletion Mosaic variegated aneuploidy syndrome 2 [RCV003116760] Chr11:95523863..95564420 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.952A>G (p.Ser318Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003121998] Chr11:95827852 [GRCh38]
Chr11:95561016 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q21(chr11:94693565-95725474)x3 copy number gain See cases [RCV002287571] Chr11:94693565..95725474 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.652C>T (p.His218Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002304705] Chr11:95818857 [GRCh38]
Chr11:95552021 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.48C>A (p.Asn16Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002298054] Chr11:95799234 [GRCh38]
Chr11:95532398 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.621+13G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002615310] Chr11:95817916 [GRCh38]
Chr11:95551080 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.383-15A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002971052] Chr11:95813453 [GRCh38]
Chr11:95546617 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.974G>C (p.Arg325Pro) single nucleotide variant Inborn genetic diseases [RCV002881127]|Mosaic variegated aneuploidy syndrome 2 [RCV002894308] Chr11:95827874 [GRCh38]
Chr11:95561038 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.132T>C (p.Pro44=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003012283] Chr11:95799318 [GRCh38]
Chr11:95532482 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.256G>C (p.Glu86Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002862694] Chr11:95812985 [GRCh38]
Chr11:95546149 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.707C>A (p.Thr236Asn) single nucleotide variant Inborn genetic diseases [RCV003028108]|Mosaic variegated aneuploidy syndrome 2 [RCV003012596] Chr11:95821878 [GRCh38]
Chr11:95555042 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002615899] Chr11:95829326 [GRCh38]
Chr11:95562490 [GRCh37]
Chr11:11q21		 uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3		 pathogenic
NM_014679.5(CEP57):c.297A>T (p.Arg99Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002975346] Chr11:95813026 [GRCh38]
Chr11:95546190 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.438A>G (p.Gln146=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002947764] Chr11:95813523 [GRCh38]
Chr11:95546687 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.69G>T (p.Arg23Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002974971] Chr11:95799255 [GRCh38]
Chr11:95532419 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1003C>G (p.Gln335Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002755574] Chr11:95827903 [GRCh38]
Chr11:95561067 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1331T>C (p.Leu444Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002972677] Chr11:95831084 [GRCh38]
Chr11:95564248 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.504+3A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002993540] Chr11:95813592 [GRCh38]
Chr11:95546756 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.247T>C (p.Leu83=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002613484] Chr11:95812976 [GRCh38]
Chr11:95546140 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.391T>A (p.Ser131Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002994912] Chr11:95813476 [GRCh38]
Chr11:95546640 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.203-15G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003074433] Chr11:95812917 [GRCh38]
Chr11:95546081 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.983A>G (p.Asn328Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002971887] Chr11:95827883 [GRCh38]
Chr11:95561047 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.382+6T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003079715] Chr11:95813117 [GRCh38]
Chr11:95546281 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del) deletion Mosaic variegated aneuploidy syndrome 2 [RCV002825363] Chr11:95831110..95831115 [GRCh38]
Chr11:95564274..95564279 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002825364] Chr11:95831116 [GRCh38]
Chr11:95564280 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.862G>A (p.Asp288Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003002220] Chr11:95822553 [GRCh38]
Chr11:95555717 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.163A>G (p.Ser55Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002912846] Chr11:95799349 [GRCh38]
Chr11:95532513 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.772A>C (p.Arg258=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002825275] Chr11:95821943 [GRCh38]
Chr11:95555107 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.832G>A (p.Ala278Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002927961] Chr11:95822523 [GRCh38]
Chr11:95555687 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1342_1362del (p.Arg448_Ser454del) deletion Mosaic variegated aneuploidy syndrome 2 [RCV003021715] Chr11:95831095..95831115 [GRCh38]
Chr11:95564259..95564279 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1011T>G (p.Ser337=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002591425] Chr11:95827911 [GRCh38]
Chr11:95561075 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.911T>C (p.Val304Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003018221] Chr11:95827811 [GRCh38]
Chr11:95560975 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1406G>A (p.Arg469Lys) single nucleotide variant Inborn genetic diseases [RCV003170785]|Mosaic variegated aneuploidy syndrome 2 [RCV002979410] Chr11:95831159 [GRCh38]
Chr11:95564323 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1128T>C (p.Phe376=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003052824] Chr11:95829187 [GRCh38]
Chr11:95562351 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.46-2A>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003078596] Chr11:95799230 [GRCh38]
Chr11:95532394 [GRCh37]
Chr11:11q21		 likely pathogenic
NM_014679.5(CEP57):c.1488G>T (p.Leu496Phe) single nucleotide variant Inborn genetic diseases [RCV002757518] Chr11:95831241 [GRCh38]
Chr11:95564405 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.44C>T (p.Ser15Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002912770] Chr11:95790742 [GRCh38]
Chr11:95523906 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.915C>T (p.Ala305=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002952914] Chr11:95827815 [GRCh38]
Chr11:95560979 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.731T>C (p.Ile244Thr) single nucleotide variant Inborn genetic diseases [RCV002998547] Chr11:95821902 [GRCh38]
Chr11:95555066 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1234G>A (p.Ala412Thr) single nucleotide variant Inborn genetic diseases [RCV002884324]|Mosaic variegated aneuploidy syndrome 2 [RCV003641058] Chr11:95829293 [GRCh38]
Chr11:95562457 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.755G>T (p.Cys252Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002620847] Chr11:95821926 [GRCh38]
Chr11:95555090 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.57T>A (p.Ala19=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003037991] Chr11:95799243 [GRCh38]
Chr11:95532407 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1358G>A (p.Arg453His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002637543] Chr11:95831111 [GRCh38]
Chr11:95564275 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1033A>C (p.Lys345Gln) single nucleotide variant Inborn genetic diseases [RCV002641851] Chr11:95827933 [GRCh38]
Chr11:95561097 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.654T>C (p.His218=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002891180]|not provided [RCV003395530] Chr11:95818859 [GRCh38]
Chr11:95552023 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV002872670] Chr11:95790745..95790746 [GRCh38]
Chr11:95523909..95523910 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1128-17T>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002958285] Chr11:95829170 [GRCh38]
Chr11:95562334 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1396A>G (p.Met466Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002667388] Chr11:95831149 [GRCh38]
Chr11:95564313 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.905C>A (p.Ala302Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003025926] Chr11:95827805 [GRCh38]
Chr11:95560969 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.526C>G (p.Gln176Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002624383] Chr11:95817808 [GRCh38]
Chr11:95550972 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.148C>T (p.Leu50=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002891188] Chr11:95799334 [GRCh38]
Chr11:95532498 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.86T>G (p.Val29Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002624568] Chr11:95799272 [GRCh38]
Chr11:95532436 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1201T>C (p.Leu401=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002914846] Chr11:95829260 [GRCh38]
Chr11:95562424 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.191G>A (p.Ser64Asn) single nucleotide variant Inborn genetic diseases [RCV003072549]|Mosaic variegated aneuploidy syndrome 2 [RCV003083989] Chr11:95799377 [GRCh38]
Chr11:95532541 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.45+17G>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002982573] Chr11:95790760 [GRCh38]
Chr11:95523924 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.698A>T (p.Glu233Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003083712] Chr11:95818903 [GRCh38]
Chr11:95552067 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1068T>G (p.Ile356Met) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002918895] Chr11:95827968 [GRCh38]
Chr11:95561132 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.249G>A (p.Leu83=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002983076] Chr11:95812978 [GRCh38]
Chr11:95546142 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.33T>G (p.Gly11=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003083292] Chr11:95790731 [GRCh38]
Chr11:95523895 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.886-7C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002851966] Chr11:95827779 [GRCh38]
Chr11:95560943 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.20_21del (p.Ser7fs) microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV003085098] Chr11:95790715..95790716 [GRCh38]
Chr11:95523879..95523880 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.504+6T>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002853151] Chr11:95813595 [GRCh38]
Chr11:95546759 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1335T>C (p.Asp445=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002701164] Chr11:95831088 [GRCh38]
Chr11:95564252 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.202+16G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002596283] Chr11:95799404 [GRCh38]
Chr11:95532568 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1347C>T (p.Asn449=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002578259] Chr11:95831100 [GRCh38]
Chr11:95564264 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1128-19A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003092111] Chr11:95829168 [GRCh38]
Chr11:95562332 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.545T>A (p.Val182Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003062096] Chr11:95817827 [GRCh38]
Chr11:95550991 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.413A>G (p.Asn138Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002966731] Chr11:95813498 [GRCh38]
Chr11:95546662 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.341A>T (p.Glu114Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003088291] Chr11:95813070 [GRCh38]
Chr11:95546234 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.215C>T (p.Ala72Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003043812] Chr11:95812944 [GRCh38]
Chr11:95546108 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.18C>G (p.Val6=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002577195] Chr11:95790716 [GRCh38]
Chr11:95523880 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu) single nucleotide variant Inborn genetic diseases [RCV002807672]|Mosaic variegated aneuploidy syndrome 2 [RCV003528433] Chr11:95829206 [GRCh38]
Chr11:95562370 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.908T>C (p.Val303Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003044663] Chr11:95827808 [GRCh38]
Chr11:95560972 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1323A>G (p.Lys441=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002806897] Chr11:95831076 [GRCh38]
Chr11:95564240 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.621+8C>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003063545] Chr11:95817911 [GRCh38]
Chr11:95551075 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1206G>A (p.Glu402=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003045185] Chr11:95829265 [GRCh38]
Chr11:95562429 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.622-12T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003087625] Chr11:95818815 [GRCh38]
Chr11:95551979 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.807+16C>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003064022] Chr11:95821994 [GRCh38]
Chr11:95555158 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV002628362] Chr11:95829224 [GRCh38]
Chr11:95562388 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1272+13T>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003091289] Chr11:95829344 [GRCh38]
Chr11:95562508 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.35C>T (p.Ser12Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003068272] Chr11:95790733 [GRCh38]
Chr11:95523897 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003069683] Chr11:95821934 [GRCh38]
Chr11:95555098 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1325del (p.Lys442fs) deletion Mosaic variegated aneuploidy syndrome 2 [RCV002634100] Chr11:95831074 [GRCh38]
Chr11:95564238 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.274G>A (p.Glu92Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003072212] Chr11:95813003 [GRCh38]
Chr11:95546167 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.21T>C (p.Ser7=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003071443] Chr11:95790719 [GRCh38]
Chr11:95523883 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.46-10dup duplication Mosaic variegated aneuploidy syndrome 2 [RCV002611679] Chr11:95799219..95799220 [GRCh38]
Chr11:95532383..95532384 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.42G>A (p.Leu14=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003070694] Chr11:95790740 [GRCh38]
Chr11:95523904 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.142A>T (p.Ser48Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003144813] Chr11:95799328 [GRCh38]
Chr11:95532492 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1211T>C (p.Leu404Ser) single nucleotide variant Inborn genetic diseases [RCV003217980] Chr11:95829270 [GRCh38]
Chr11:95562434 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.74A>T (p.Asn25Ile) single nucleotide variant Inborn genetic diseases [RCV003265146] Chr11:95799260 [GRCh38]
Chr11:95532424 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.46-3673T>C single nucleotide variant not provided [RCV003396026] Chr11:95795559 [GRCh38]
Chr11:95528723 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003874660] Chr11:95831054 [GRCh38]
Chr11:95564218 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.422A>T (p.Asn141Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003872628] Chr11:95813507 [GRCh38]
Chr11:95546671 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.729T>C (p.Leu243=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003528472]|not provided [RCV003396027] Chr11:95821900 [GRCh38]
Chr11:95555064 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1179G>T (p.Leu393=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529181] Chr11:95829238 [GRCh38]
Chr11:95562402 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.20C>T (p.Ser7Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529389] Chr11:95790718 [GRCh38]
Chr11:95523882 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.812G>C (p.Ser271Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529689] Chr11:95822503 [GRCh38]
Chr11:95555667 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.487T>C (p.Ser163Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003527849] Chr11:95813572 [GRCh38]
Chr11:95546736 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1430dup (p.Asn477fs) duplication Mosaic variegated aneuploidy syndrome 2 [RCV003529607] Chr11:95831177..95831178 [GRCh38]
Chr11:95564341..95564342 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.998C>T (p.Ala333Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003528560] Chr11:95827898 [GRCh38]
Chr11:95561062 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1236C>G (p.Ala412=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003827465] Chr11:95829295 [GRCh38]
Chr11:95562459 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.81C>A (p.Ser27Arg) single nucleotide variant Inborn genetic diseases [RCV004369453]|Mosaic variegated aneuploidy syndrome 2 [RCV003527838] Chr11:95799267 [GRCh38]
Chr11:95532431 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.421A>C (p.Asn141His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529122] Chr11:95813506 [GRCh38]
Chr11:95546670 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.568G>A (p.Asp190Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003528933] Chr11:95817850 [GRCh38]
Chr11:95551014 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1128-16_1128-14del deletion Mosaic variegated aneuploidy syndrome 2 [RCV003529154] Chr11:95829169..95829171 [GRCh38]
Chr11:95562333..95562335 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.341A>G (p.Glu114Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003528965] Chr11:95813070 [GRCh38]
Chr11:95546234 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1272+12_1272+13del deletion Mosaic variegated aneuploidy syndrome 2 [RCV003529304] Chr11:95829341..95829342 [GRCh38]
Chr11:95562505..95562506 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.781A>G (p.Lys261Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529755] Chr11:95821952 [GRCh38]
Chr11:95555116 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529169] Chr11:95831140 [GRCh38]
Chr11:95564304 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.61C>T (p.Pro21Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529190] Chr11:95799247 [GRCh38]
Chr11:95532411 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.383-10T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003829185] Chr11:95813458 [GRCh38]
Chr11:95546622 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.148C>A (p.Leu50Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529209] Chr11:95799334 [GRCh38]
Chr11:95532498 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.382+14G>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003529245] Chr11:95813125 [GRCh38]
Chr11:95546289 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.808-11_808-7del microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV003816677] Chr11:95822482..95822486 [GRCh38]
Chr11:95555646..95555650 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.381A>C (p.Gln127His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642169] Chr11:95813110 [GRCh38]
Chr11:95546274 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642270] Chr11:95829322 [GRCh38]
Chr11:95562486 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.202+17A>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640420] Chr11:95799405 [GRCh38]
Chr11:95532569 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.274G>C (p.Glu92Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641442] Chr11:95813003 [GRCh38]
Chr11:95546167 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.622-2A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641647] Chr11:95818825 [GRCh38]
Chr11:95551989 [GRCh37]
Chr11:11q21		 likely pathogenic
NM_014679.5(CEP57):c.784A>C (p.Lys262Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641943] Chr11:95821955 [GRCh38]
Chr11:95555119 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.45+17G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003864464] Chr11:95790760 [GRCh38]
Chr11:95523924 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.866T>C (p.Met289Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641988] Chr11:95822557 [GRCh38]
Chr11:95555721 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.195C>T (p.Asn65=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642000] Chr11:95799381 [GRCh38]
Chr11:95532545 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.504+4A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640531] Chr11:95813593 [GRCh38]
Chr11:95546757 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.798A>T (p.Pro266=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640533] Chr11:95821969 [GRCh38]
Chr11:95555133 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.718A>G (p.Thr240Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640626] Chr11:95821889 [GRCh38]
Chr11:95555053 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1491T>C (p.Cys497=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641545] Chr11:95831244 [GRCh38]
Chr11:95564408 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.207A>G (p.Ile69Met) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641559] Chr11:95812936 [GRCh38]
Chr11:95546100 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640546] Chr11:95829314 [GRCh38]
Chr11:95562478 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.599C>T (p.Thr200Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642326] Chr11:95817881 [GRCh38]
Chr11:95551045 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer) microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV003640709] Chr11:95813038..95813039 [GRCh38]
Chr11:95546202..95546203 [GRCh37]
Chr11:11q21		 pathogenic
NM_014679.5(CEP57):c.402A>C (p.Leu134Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641469] Chr11:95813487 [GRCh38]
Chr11:95546651 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.700-19A>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641889] Chr11:95821852 [GRCh38]
Chr11:95555016 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.152G>T (p.Arg51Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641942] Chr11:95799338 [GRCh38]
Chr11:95532502 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.305T>C (p.Ile102Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641985] Chr11:95813034 [GRCh38]
Chr11:95546198 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.699+7T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642006] Chr11:95818911 [GRCh38]
Chr11:95552075 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.915C>G (p.Ala305=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642119] Chr11:95827815 [GRCh38]
Chr11:95560979 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1459A>G (p.Ile487Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640433] Chr11:95831212 [GRCh38]
Chr11:95564376 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.505G>A (p.Val169Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640646] Chr11:95817787 [GRCh38]
Chr11:95550951 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.424C>A (p.Leu142Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003865532] Chr11:95813509 [GRCh38]
Chr11:95546673 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003858826] Chr11:95831216 [GRCh38]
Chr11:95564380 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003865672] Chr11:95831049 [GRCh38]
Chr11:95564213 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1455A>G (p.Gln485=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641949] Chr11:95831208 [GRCh38]
Chr11:95564372 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.666G>A (p.Gln222=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003641822] Chr11:95818871 [GRCh38]
Chr11:95552035 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.382+9del deletion Mosaic variegated aneuploidy syndrome 2 [RCV003641968] Chr11:95813120 [GRCh38]
Chr11:95546284 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.499A>G (p.Lys167Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640627] Chr11:95813584 [GRCh38]
Chr11:95546748 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.699+1G>T single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003640818] Chr11:95818905 [GRCh38]
Chr11:95552069 [GRCh37]
Chr11:11q21		 likely pathogenic
NM_014679.5(CEP57):c.605T>A (p.Met202Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642255] Chr11:95817887 [GRCh38]
Chr11:95551051 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1127+5G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV003642341] Chr11:95828032 [GRCh38]
Chr11:95561196 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.511C>T (p.Leu171=) single nucleotide variant not provided [RCV003886729] Chr11:95817793 [GRCh38]
Chr11:95550957 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.1273-9T>G single nucleotide variant CEP57-related disorder [RCV003962008] Chr11:95831017 [GRCh38]
Chr11:95564181 [GRCh37]
Chr11:11q21		 likely benign
NM_014679.5(CEP57):c.496G>C (p.Glu166Gln) single nucleotide variant Inborn genetic diseases [RCV004436354] Chr11:95813581 [GRCh38]
Chr11:95546745 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1326G>C (p.Lys442Asn) single nucleotide variant Inborn genetic diseases [RCV004436352] Chr11:95831079 [GRCh38]
Chr11:95564243 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.462A>G (p.Ile154Met) single nucleotide variant Inborn genetic diseases [RCV004436353] Chr11:95813547 [GRCh38]
Chr11:95546711 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1388_1391del (p.Lys463fs) microsatellite not provided [RCV004697482] Chr11:95831137..95831140 [GRCh38]
Chr11:95564301..95564304 [GRCh37]
Chr11:11q21		 likely pathogenic
NM_014679.5(CEP57):c.71C>G (p.Ser24Cys) single nucleotide variant Inborn genetic diseases [RCV004614984] Chr11:95799257 [GRCh38]
Chr11:95532421 [GRCh37]
Chr11:11q21		 uncertain significance
NM_014679.5(CEP57):c.1490G>A (p.Cys497Tyr) single nucleotide variant Inborn genetic diseases [RCV004614983] Chr11:95831243 [GRCh38]
Chr11:95564407 [GRCh37]
Chr11:11q21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3664
Count of miRNA genes:987
Interacting mature miRNAs:1184
Transcripts:ENST00000325486, ENST00000325542, ENST00000535224, ENST00000535497, ENST00000536587, ENST00000537093, ENST00000537677, ENST00000538095, ENST00000538158, ENST00000538658, ENST00000539855, ENST00000540830, ENST00000541150, ENST00000541365, ENST00000541768, ENST00000544522
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
407011234GWAS660210_Hintelligence QTL GWAS660210 (human)0.0000002intelligence119580039395800394Human
406945632GWAS594608_Hgut microbiome measurement QTL GWAS594608 (human)0.000009gut microbiome measurement119580124895801249Human
407113765GWAS762741_Hcognitive function measurement QTL GWAS762741 (human)2e-15cognitive function measurement119581122795811228Human
407386538GWAS1035514_Hobsolete_red blood cell distribution width QTL GWAS1035514 (human)1e-19obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)119580834495808345Human
407035590GWAS684566_Hself reported educational attainment QTL GWAS684566 (human)8e-15self reported educational attainment119581055195810552Human
407138338GWAS787314_Hintelligence, self reported educational attainment QTL GWAS787314 (human)2e-09intelligence, self reported educational attainment119583109595831096Human
407167820GWAS816796_HAlzheimer disease, educational attainment QTL GWAS816796 (human)5e-08Alzheimer disease, educational attainment119580834495808345Human
407112043GWAS761019_Hself reported educational attainment QTL GWAS761019 (human)2e-17self reported educational attainment119581055195810552Human
407158251GWAS807227_Heducational attainment QTL GWAS807227 (human)3e-18educational attainment119583212495832125Human
407194164GWAS843140_Happendicular lean mass QTL GWAS843140 (human)5e-15appendicular lean mass119583212495832125Human
407305588GWAS954564_Hmean corpuscular volume QTL GWAS954564 (human)7e-17mean corpuscular volumemean corpuscular volume (CMO:0000038)119583109595831096Human
407210774GWAS859750_Hcognitive function measurement QTL GWAS859750 (human)3e-11cognitive function measurement119582851895828519Human
407055861GWAS704837_Hintelligence QTL GWAS704837 (human)6e-09intelligence119581476395814764Human
407382143GWAS1031119_Hobsolete_red blood cell distribution width QTL GWAS1031119 (human)8e-16obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)119580419495804195Human
406927353GWAS576329_Hneuroimaging measurement QTL GWAS576329 (human)1e-09neuroimaging measurement119582851895828519Human
406964792GWAS613768_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS613768 (human)1e-19severe acute respiratory syndrome, COVID-19119581797295817973Human
407219806GWAS868782_Hmean corpuscular hemoglobin concentration QTL GWAS868782 (human)5e-15mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)119583109595831096Human
407103101GWAS752077_Hmathematical ability QTL GWAS752077 (human)1e-11mathematical ability119581122795811228Human
407162746GWAS811722_Hintelligence QTL GWAS811722 (human)1e-09intelligence119583109595831096Human
407190714GWAS839690_Hcognitive function measurement, self reported educational attainment QTL GWAS839690 (human)4e-11cognitive function measurement, self reported educational attainment119582851895828519Human
407137083GWAS786059_Hneuroticism measurement, cognitive function measurement QTL GWAS786059 (human)4e-13neuroticism measurement, cognitive function measurement119582851895828519Human

Markers in Region
STS-AA021450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,559,469 - 95,559,712UniSTSGRCh37
Build 361195,199,117 - 95,199,360RGDNCBI36
Celera1192,857,853 - 92,858,096RGD
Cytogenetic Map11q21UniSTS
HuRef1191,625,262 - 91,625,505UniSTS
GeneMap99-GB4 RH Map11318.92UniSTS
NCBI RH Map11797.4UniSTS
STS-D42054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,565,508 - 95,565,688UniSTSGRCh37
Build 361195,205,156 - 95,205,336RGDNCBI36
Celera1192,863,896 - 92,864,076RGD
Cytogenetic Map11q21UniSTS
HuRef1191,631,307 - 91,631,487UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS
RH25320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,565,528 - 95,565,820UniSTSGRCh37
Build 361195,205,176 - 95,205,468RGDNCBI36
Celera1192,863,916 - 92,864,208RGD
Cytogenetic Map11q21UniSTS
HuRef1191,631,327 - 91,631,619UniSTS
RH36085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,559,745 - 95,559,881UniSTSGRCh37
Build 361195,199,393 - 95,199,529RGDNCBI36
Celera1192,858,129 - 92,858,265RGD
Cytogenetic Map11q21UniSTS
HuRef1191,625,538 - 91,625,674UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS
D11S4333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,564,659 - 95,564,809UniSTSGRCh37
Build 361195,204,307 - 95,204,457RGDNCBI36
Celera1192,863,047 - 92,863,197RGD
Cytogenetic Map11q21UniSTS
HuRef1191,630,458 - 91,630,608UniSTS
TNG Radiation Hybrid Map1143858.0UniSTS
Stanford-G3 RH Map114177.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
GeneMap99-G3 RH Map114177.0UniSTS
WI-21801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,564,603 - 95,564,869UniSTSGRCh37
Build 361195,204,251 - 95,204,517RGDNCBI36
Celera1192,862,991 - 92,863,257RGD
Cytogenetic Map11q21UniSTS
HuRef1191,630,402 - 91,630,668UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
Whitehead-RH Map11416.2UniSTS
NCBI RH Map11794.1UniSTS
D11S2230E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q21UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA730219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY225092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY239292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG699097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D42054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB032301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000325486   ⟹   ENSP00000317487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,461 - 95,832,691 (+)Ensembl
Ensembl Acc Id: ENST00000325542   ⟹   ENSP00000317902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,498 - 95,832,693 (+)Ensembl
Ensembl Acc Id: ENST00000535224   ⟹   ENSP00000440256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,817,837 - 95,831,145 (+)Ensembl
Ensembl Acc Id: ENST00000535497   ⟹   ENSP00000442481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,531 - 95,813,520 (+)Ensembl
Ensembl Acc Id: ENST00000536587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,812,930 - 95,815,260 (+)Ensembl
Ensembl Acc Id: ENST00000537093   ⟹   ENSP00000444749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,817,820 - 95,828,027 (+)Ensembl
Ensembl Acc Id: ENST00000537677   ⟹   ENSP00000441392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,789,965 - 95,831,267 (+)Ensembl
Ensembl Acc Id: ENST00000538095   ⟹   ENSP00000443866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,498 - 95,812,979 (+)Ensembl
Ensembl Acc Id: ENST00000538158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,825,683 - 95,831,167 (+)Ensembl
Ensembl Acc Id: ENST00000538658   ⟹   ENSP00000445706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,659 - 95,823,215 (+)Ensembl
Ensembl Acc Id: ENST00000539855   ⟹   ENSP00000437422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,516 - 95,831,281 (+)Ensembl
Ensembl Acc Id: ENST00000540830   ⟹   ENSP00000440996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,533 - 95,831,543 (+)Ensembl
Ensembl Acc Id: ENST00000541150   ⟹   ENSP00000443436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,795,542 - 95,832,691 (+)Ensembl
Ensembl Acc Id: ENST00000541365   ⟹   ENSP00000445821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,522 - 95,818,903 (+)Ensembl
Ensembl Acc Id: ENST00000541768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,812,977 - 95,818,032 (+)Ensembl
Ensembl Acc Id: ENST00000544522   ⟹   ENSP00000438065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1195,790,513 - 95,817,903 (+)Ensembl
RefSeq Acc Id: NM_001243776   ⟹   NP_001230705
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
GRCh371195,523,625 - 95,565,857 (+)NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBI
CHM1_11195,406,634 - 95,448,873 (+)NCBI
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243777   ⟹   NP_001230706
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
GRCh371195,523,625 - 95,565,857 (+)NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBI
CHM1_11195,406,634 - 95,448,873 (+)NCBI
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363604   ⟹   NP_001350533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014679   ⟹   NP_055494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
GRCh371195,523,625 - 95,565,857 (+)NCBI
Build 361195,163,290 - 95,205,502 (+)NCBI Archive
Celera1192,822,024 - 92,864,242 (+)RGD
HuRef1191,589,397 - 91,631,656 (+)NCBI
CHM1_11195,406,634 - 95,448,873 (+)NCBI
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718945   ⟹   XP_006719008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718946   ⟹   XP_006719009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018592   ⟹   XP_016874081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,794,221 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018593   ⟹   XP_016874082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018594   ⟹   XP_016874083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427925   ⟹   XP_047283881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,821,985 - 95,832,693 (+)NCBI
RefSeq Acc Id: XM_054370613   ⟹   XP_054226588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01195,801,619 - 95,840,118 (+)NCBI
RefSeq Acc Id: XM_054370614   ⟹   XP_054226589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
RefSeq Acc Id: XM_054370615   ⟹   XP_054226590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
RefSeq Acc Id: XM_054370616   ⟹   XP_054226591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
RefSeq Acc Id: XM_054370617   ⟹   XP_054226592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01195,797,891 - 95,840,118 (+)NCBI
RefSeq Acc Id: XM_054370618   ⟹   XP_054226593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01195,829,388 - 95,840,118 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001230705 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230706 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350533 (Get FASTA)   NCBI Sequence Viewer  
  NP_055494 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719008 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719009 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874081 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874082 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874083 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283881 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226588 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226589 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226590 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226591 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226592 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226593 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01233 (Get FASTA)   NCBI Sequence Viewer  
  AAH29385 (Get FASTA)   NCBI Sequence Viewer  
  AAH39711 (Get FASTA)   NCBI Sequence Viewer  
  AAO73938 (Get FASTA)   NCBI Sequence Viewer  
  AAP72184 (Get FASTA)   NCBI Sequence Viewer  
  BAA07654 (Get FASTA)   NCBI Sequence Viewer  
  BAF83934 (Get FASTA)   NCBI Sequence Viewer  
  BAG56806 (Get FASTA)   NCBI Sequence Viewer  
  EAW66965 (Get FASTA)   NCBI Sequence Viewer  
  EAW66966 (Get FASTA)   NCBI Sequence Viewer  
  EAW66967 (Get FASTA)   NCBI Sequence Viewer  
  EAW66968 (Get FASTA)   NCBI Sequence Viewer  
  EAW66969 (Get FASTA)   NCBI Sequence Viewer  
  EAW66970 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000317487
  ENSP00000317487.5
  ENSP00000317902
  ENSP00000317902.5
  ENSP00000437422.1
  ENSP00000438065.1
  ENSP00000440256.1
  ENSP00000440996.1
  ENSP00000441392
  ENSP00000441392.1
  ENSP00000442481.1
  ENSP00000443436
  ENSP00000443436.1
  ENSP00000443866.1
  ENSP00000444749.1
  ENSP00000445706.1
  ENSP00000445821.1
GenBank Protein Q86XR8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055494   ⟸   NM_014679
- Peptide Label: isoform a
- UniProtKB: Q8IXP0 (UniProtKB/Swiss-Prot),   Q5JB46 (UniProtKB/Swiss-Prot),   Q14704 (UniProtKB/Swiss-Prot),   F5H5F7 (UniProtKB/Swiss-Prot),   B4DDP5 (UniProtKB/Swiss-Prot),   A8K5D0 (UniProtKB/Swiss-Prot),   A0PJH1 (UniProtKB/Swiss-Prot),   Q9BVF9 (UniProtKB/Swiss-Prot),   Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230705   ⟸   NM_001243776
- Peptide Label: isoform b
- UniProtKB: Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230706   ⟸   NM_001243777
- Peptide Label: isoform c
- UniProtKB: Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719009   ⟸   XM_006718946
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006719008   ⟸   XM_006718945
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016874082   ⟸   XM_017018593
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016874083   ⟸   XM_017018594
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874081   ⟸   XM_017018592
- Peptide Label: isoform X1
- UniProtKB: Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350533   ⟸   NM_001363604
- Peptide Label: isoform d
- UniProtKB: F5GYW0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000445821   ⟸   ENST00000541365
Ensembl Acc Id: ENSP00000443436   ⟸   ENST00000541150
Ensembl Acc Id: ENSP00000438065   ⟸   ENST00000544522
Ensembl Acc Id: ENSP00000442481   ⟸   ENST00000535497
Ensembl Acc Id: ENSP00000440256   ⟸   ENST00000535224
Ensembl Acc Id: ENSP00000317487   ⟸   ENST00000325486
Ensembl Acc Id: ENSP00000317902   ⟸   ENST00000325542
Ensembl Acc Id: ENSP00000444749   ⟸   ENST00000537093
Ensembl Acc Id: ENSP00000441392   ⟸   ENST00000537677
Ensembl Acc Id: ENSP00000443866   ⟸   ENST00000538095
Ensembl Acc Id: ENSP00000445706   ⟸   ENST00000538658
Ensembl Acc Id: ENSP00000437422   ⟸   ENST00000539855
Ensembl Acc Id: ENSP00000440996   ⟸   ENST00000540830
RefSeq Acc Id: XP_047283881   ⟸   XM_047427925
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054226590   ⟸   XM_054370615
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226589   ⟸   XM_054370614
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226591   ⟸   XM_054370616
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054226592   ⟸   XM_054370617
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054226588   ⟸   XM_054370613
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226593   ⟸   XM_054370618
- Peptide Label: isoform X6
Protein Domains
Cep57 centrosome localisation   Cep57 centrosome microtubule-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86XR8-F1-model_v2 AlphaFold Q86XR8 1-500 view protein structure

Promoters
RGD ID:6788797
Promoter ID:HG_KWN:13992
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562
Transcripts:ENST00000325486,   NM_014679,   UC001PFO.1,   UC001PFR.1,   UC009YWN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361195,162,636 - 95,163,647 (+)MPROMDB
RGD ID:7221865
Promoter ID:EPDNEW_H16677
Type:initiation region
Name:CEP57_1
Description:centrosomal protein 57
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
GRCh381195,790,539 - 95,790,599EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30794 AgrOrtholog
COSMIC CEP57 COSMIC
Ensembl Genes ENSG00000166037 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000325486 ENTREZGENE
  ENST00000325486.9 UniProtKB/Swiss-Prot
  ENST00000325542 ENTREZGENE
  ENST00000325542.10 UniProtKB/Swiss-Prot
  ENST00000535224.1 UniProtKB/TrEMBL
  ENST00000535497.1 UniProtKB/TrEMBL
  ENST00000537093.5 UniProtKB/TrEMBL
  ENST00000537677 ENTREZGENE
  ENST00000537677.5 UniProtKB/TrEMBL
  ENST00000538095.1 UniProtKB/TrEMBL
  ENST00000538658.5 UniProtKB/Swiss-Prot
  ENST00000539855.5 UniProtKB/TrEMBL
  ENST00000540830.5 UniProtKB/TrEMBL
  ENST00000541150 ENTREZGENE
  ENST00000541150.5 UniProtKB/Swiss-Prot
  ENST00000541365.5 UniProtKB/TrEMBL
  ENST00000544522.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166037 GTEx
HGNC ID HGNC:30794 ENTREZGENE
Human Proteome Map CEP57 Human Proteome Map
InterPro Centrosomal_MT-associated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_CLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_MT-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9702 UniProtKB/Swiss-Prot
NCBI Gene 9702 ENTREZGENE
OMIM 607951 OMIM
PANTHER PTHR19336:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED DUF1167 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cep57_CLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_MT_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672123 PharmGKB
UniProt A0PJH1 ENTREZGENE
  A8K5D0 ENTREZGENE
  B4DDP5 ENTREZGENE
  CEP57_HUMAN UniProtKB/Swiss-Prot
  F5GXS6_HUMAN UniProtKB/TrEMBL
  F5GYW0 ENTREZGENE, UniProtKB/TrEMBL
  F5GZ93_HUMAN UniProtKB/TrEMBL
  F5H0C6_HUMAN UniProtKB/TrEMBL
  F5H1B0_HUMAN UniProtKB/TrEMBL
  F5H5F7 ENTREZGENE
  F5H6R3_HUMAN UniProtKB/TrEMBL
  F5H7J4_HUMAN UniProtKB/TrEMBL
  H0YFT8_HUMAN UniProtKB/TrEMBL
  H0YGT4_HUMAN UniProtKB/TrEMBL
  Q14704 ENTREZGENE
  Q5JB46 ENTREZGENE
  Q86XR8 ENTREZGENE
  Q8IXP0 ENTREZGENE
  Q9BVF9 ENTREZGENE
UniProt Secondary A0PJH1 UniProtKB/Swiss-Prot
  A8K5D0 UniProtKB/Swiss-Prot
  B4DDP5 UniProtKB/Swiss-Prot
  F5H5F7 UniProtKB/Swiss-Prot
  Q14704 UniProtKB/Swiss-Prot
  Q5JB46 UniProtKB/Swiss-Prot
  Q8IXP0 UniProtKB/Swiss-Prot
  Q9BVF9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP57  centrosomal protein 57  CEP57  centrosomal protein 57kDa  Symbol and/or name change 5135510 APPROVED