GPC3 (glypican 3) - Rat Genome Database

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Gene: GPC3 (glypican 3) Homo sapiens
Analyze
Symbol: GPC3
Name: glypican 3
RGD ID: 737615
HGNC Page HGNC
Description: Exhibits peptidyl-dipeptidase inhibitor activity. Involved in positive regulation of canonical Wnt signaling pathway and regulation of non-canonical Wnt signaling pathway. Localizes to plasma membrane. Implicated in Simpson-Golabi-Behmel syndrome type 1 and nephroblastoma. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DGSX; glypican proteoglycan 3; glypican-3; GTR2-2; heparan sulphate proteoglycan; intestinal protein OCI-5; MXR7; OCI-5; SDYS; secreted glypican-3; SGB; SGBS; SGBS1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX133,535,745 - 133,985,895 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX133,535,745 - 133,985,594 (-)EnsemblGRCh38hg38GRCh38
GRCh38X133,535,745 - 133,985,616 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X132,669,773 - 133,119,621 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X132,497,439 - 132,947,332 (-)NCBINCBI36hg18NCBI36
Build 34X132,395,297 - 132,845,186NCBI
CeleraX133,056,670 - 133,506,461 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX122,070,349 - 122,518,471 (-)NCBIHuRef
CHM1_1X132,581,479 - 133,031,377 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium sulfate  (ISO)
caffeine  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cyclosporin A  (EXP)
DDT  (ISO)
dexamethasone  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
fenvalerate  (ISO)
furan  (ISO)
gemcitabine  (EXP)
glycerol 2-phosphate  (ISO)
glycidol  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indole-3-methanol  (ISO)
L-ascorbic acid  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
raloxifene  (ISO)
SB 431542  (EXP)
scopolamine  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
topotecan  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (TAS)
animal organ morphogenesis  (ISO)
anterior/posterior axis specification  (IEA,ISO)
body morphogenesis  (IEA,ISO)
bone mineralization  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IEA,ISO)
cell migration  (IBA)
cell migration involved in gastrulation  (ISS)
cell proliferation involved in kidney development  (ISO,ISS)
cell proliferation involved in metanephros development  (IEA,ISO)
cellular protein metabolic process  (TAS)
coronary vasculature development  (ISO,ISS)
embryonic hindlimb morphogenesis  (IEA,ISO)
glycosaminoglycan biosynthetic process  (TAS)
glycosaminoglycan catabolic process  (TAS)
kidney development  (ISO)
lung development  (IEA,ISO)
mesenchymal cell proliferation involved in ureteric bud development  (ISS)
mesonephric duct morphogenesis  (ISO,ISS)
negative regulation of canonical Wnt signaling pathway  (IEA,ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of growth  (IEA,ISO)
negative regulation of peptidase activity  (IEA)
negative regulation of smoothened signaling pathway  (ISO,ISS)
osteoclast differentiation  (IEA,ISO)
positive regulation of BMP signaling pathway  (IEA,ISO)
positive regulation of canonical Wnt signaling pathway  (IBA,IDA)
positive regulation of endocytosis  (ISO,ISS)
positive regulation of glucose import  (IEA,ISO)
positive regulation of protein catabolic process  (ISO,ISS)
positive regulation of smoothened signaling pathway  (IEA,ISO)
positive regulation of Wnt signaling pathway, planar cell polarity pathway  (IEA,ISO)
post-translational protein modification  (TAS)
regulation of canonical Wnt signaling pathway  (IDA)
regulation of growth  (ISO)
regulation of non-canonical Wnt signaling pathway  (IDA)
regulation of protein localization to membrane  (IBA)
regulation of signal transduction  (IEA)
response to bacterium  (IEA,ISO)
retinoid metabolic process  (TAS)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 finger syndactyly  (IAGP)
Abdominal pain  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormality of the helix  (IAGP)
Abnormality of the ribs  (IAGP)
Accelerated skeletal maturation  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aniridia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Arrhythmia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Birth length greater than 97th percentile  (IAGP)
Broad foot  (IAGP)
Broad palm  (IAGP)
Broad secondary alveolar ridge  (IAGP)
Broad thumb  (IAGP)
Broad toe  (IAGP)
Bundle branch block  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiomyopathy  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cervical ribs  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital hip dislocation  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in infancy  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Diastasis recti  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duplication of renal pelvis  (IAGP)
Enlarged kidney  (IAGP)
Epicanthus  (IAGP)
Fever  (IAGP)
Finger syndactyly  (IAGP)
Flared iliac wings  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hematuria  (IAGP)
Hepatoblastoma  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
High, narrow palate  (IAGP)
Hoarse voice  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased circulating IgE level  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lymphadenopathy  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Nail dysplasia  (IAGP)
Narrow greater sciatic notch  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the lung  (IAGP)
Nephroblastoma  (IAGP)
Neuroblastoma  (IAGP)
Neurological speech impairment  (IAGP)
Omphalocele  (IAGP)
Pancreatic islet-cell hyperplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Polyhydramnios  (IAGP)
Polysplenia  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Posterior helix pit  (IAGP)
Preauricular pit  (IAGP)
Preauricular skin tag  (IAGP)
Prolonged QT interval  (IAGP)
Pulmonic stenosis  (IAGP)
Renal cyst  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short 2nd finger  (IAGP)
Short distal phalanx of finger  (IAGP)
Short foot  (IAGP)
Short greater sciatic notch  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short toe  (IAGP)
Six lumbar vertebrae  (IAGP)
Small nail  (IAGP)
Somatic mutation  (IAGP)
Splenomegaly  (IAGP)
Submucous cleft lip  (IAGP)
Supernumerary nipple  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Toe syndactyly  (IAGP)
Transposition of the great arteries  (IAGP)
Two carpal ossification centers present at birth  (IAGP)
Umbilical hernia  (IAGP)
Ureteral duplication  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral fusion  (IAGP)
Vertebral segmentation defect  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7909248   PMID:8125298   PMID:8589713   PMID:9021160   PMID:9133586   PMID:9339360   PMID:9371521   PMID:9630066   PMID:9787072   PMID:9853964   PMID:9931407   PMID:9950367  
PMID:10814714   PMID:11193214   PMID:11320054   PMID:11893651   PMID:12085187   PMID:12477932   PMID:12478660   PMID:12816733   PMID:12824919   PMID:14610063   PMID:14661052   PMID:15083193  
PMID:15475451   PMID:15772651   PMID:16227623   PMID:16299239   PMID:16344560   PMID:16675560   PMID:16682817   PMID:17087938   PMID:17549790   PMID:17581422   PMID:17603795   PMID:17949778  
PMID:17949790   PMID:18029348   PMID:18264086   PMID:18277882   PMID:18413366   PMID:18462363   PMID:18469798   PMID:18511877   PMID:18785116   PMID:18813128   PMID:18813403   PMID:18976006  
PMID:19141032   PMID:19215053   PMID:19231003   PMID:19243386   PMID:19329941   PMID:19405109   PMID:19513517   PMID:19574883   PMID:19793164   PMID:19816934   PMID:19838081   PMID:20301398  
PMID:20301471   PMID:20301533   PMID:20301534   PMID:20546340   PMID:20653060   PMID:20701957   PMID:20725905   PMID:20803547   PMID:20845507   PMID:20868507   PMID:20950395   PMID:20964802  
PMID:21187490   PMID:21303616   PMID:21362501   PMID:21371925   PMID:21410073   PMID:21429352   PMID:21438004   PMID:21493758   PMID:21556932   PMID:21586223   PMID:21617840   PMID:21655958  
PMID:21822558   PMID:21847365   PMID:21873635   PMID:21919070   PMID:21937079   PMID:22026458   PMID:22119409   PMID:22298472   PMID:22382024   PMID:22448662   PMID:22449976   PMID:22706665  
PMID:22865282   PMID:23060277   PMID:23079207   PMID:23084579   PMID:23114924   PMID:23192642   PMID:23327927   PMID:23348905   PMID:23376485   PMID:23414517   PMID:23471984   PMID:23526389  
PMID:23530909   PMID:23558072   PMID:23598528   PMID:23606591   PMID:23624389   PMID:23643963   PMID:23743582   PMID:24068947   PMID:24115482   PMID:24186850   PMID:24207089   PMID:24225756  
PMID:24236824   PMID:24362268   PMID:24439425   PMID:24459012   PMID:24460300   PMID:24492943   PMID:24496449   PMID:24498024   PMID:24521523   PMID:24548704   PMID:24747240   PMID:24804215  
PMID:24841158   PMID:24876756   PMID:25073799   PMID:25115442   PMID:25168166   PMID:25195714   PMID:25270552   PMID:25344940   PMID:25366870   PMID:25432695   PMID:25542894   PMID:25572615  
PMID:25619476   PMID:25624497   PMID:25653284   PMID:25735325   PMID:25784484   PMID:25822763   PMID:25862856   PMID:25896897   PMID:25967456   PMID:26052074   PMID:26186194   PMID:26256079  
PMID:26332121   PMID:26345955   PMID:26370140   PMID:26502856   PMID:26517809   PMID:26722522   PMID:26755876   PMID:26764243   PMID:26972000   PMID:26977595   PMID:27102087   PMID:27259271  
PMID:27286460   PMID:27507057   PMID:27530312   PMID:27573079   PMID:27647326   PMID:27689616   PMID:27758865   PMID:28077445   PMID:28087980   PMID:28371070   PMID:28378832   PMID:28429175  
PMID:28432433   PMID:28476031   PMID:28514442   PMID:28636109   PMID:28763861   PMID:28812296   PMID:29106433   PMID:29162697   PMID:29226636   PMID:29345911   PMID:29398870   PMID:29563582  
PMID:29582639   PMID:29623600   PMID:29637653   PMID:29708315   PMID:29807831   PMID:29901640   PMID:29916268   PMID:29935166   PMID:30021884   PMID:30267212   PMID:30447178   PMID:30573358  
PMID:30592149   PMID:30729617   PMID:30803713   PMID:30827508   PMID:30854929   PMID:31028536   PMID:31044341   PMID:31053802   PMID:31160489   PMID:31179679   PMID:31280863   PMID:31612616  
PMID:31706332   PMID:31761395   PMID:31774932   PMID:31781603   PMID:32017945   PMID:32352694   PMID:32620659   PMID:33453658  


Genomics

Comparative Map Data
GPC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX133,535,745 - 133,985,895 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX133,535,745 - 133,985,594 (-)EnsemblGRCh38hg38GRCh38
GRCh38X133,535,745 - 133,985,616 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X132,669,773 - 133,119,621 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X132,497,439 - 132,947,332 (-)NCBINCBI36hg18NCBI36
Build 34X132,395,297 - 132,845,186NCBI
CeleraX133,056,670 - 133,506,461 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX122,070,349 - 122,518,471 (-)NCBIHuRef
CHM1_1X132,581,479 - 133,031,377 (-)NCBICHM1_1
Gpc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X51,361,303 - 51,702,851 (-)NCBIGRCm39mm39
GRCm39 EnsemblX51,361,303 - 51,702,827 (-)Ensembl
GRCm38X52,272,426 - 52,613,974 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX52,272,426 - 52,613,950 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X49,625,603 - 49,967,151 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X48,517,053 - 48,858,548 (-)NCBImm8
CeleraX39,684,455 - 40,028,880 (-)NCBICelera
Cytogenetic MapXA5NCBI
Gpc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X131,868,983 - 132,236,837 (-)NCBI
Rnor_6.0 EnsemblX139,579,268 - 139,916,883 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X139,579,268 - 139,947,093 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X139,625,383 - 139,993,328 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X139,192,115 - 139,560,649 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X139,264,617 - 139,634,082 (-)NCBI
CeleraX130,783,069 - 131,149,772 (-)NCBICelera
Cytogenetic MapXq36NCBI
Gpc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955473969,800 - 1,431,483 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955473969,627 - 1,431,706 (+)NCBIChiLan1.0ChiLan1.0
GPC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X132,979,890 - 133,432,266 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX132,979,612 - 133,432,441 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X122,677,072 - 123,131,511 (-)NCBIMhudiblu_PPA_v0panPan3
GPC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X104,313,426 - 104,751,215 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX104,313,591 - 104,751,756 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX90,423,525 - 90,861,387 (-)NCBI
ROS_Cfam_1.0X106,172,656 - 106,610,807 (-)NCBI
UMICH_Zoey_3.1X103,586,071 - 104,023,982 (-)NCBI
UNSW_CanFamBas_1.0X105,451,609 - 105,889,924 (-)NCBI
UU_Cfam_GSD_1.0X105,234,374 - 105,675,118 (-)NCBI
Gpc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X102,497,623 - 102,897,321 (-)NCBI
SpeTri2.0NW_0049366911,060,013 - 1,459,736 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX109,536,495 - 109,973,607 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X109,536,495 - 109,973,605 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X125,676,131 - 126,059,402 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPC3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X108,688,706 - 109,143,653 (-)NCBI
Gpc3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479713,234,741 - 13,678,542 (-)NCBI

Position Markers
RH79181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,669,794 - 132,669,920UniSTSGRCh37
Build 36X132,497,460 - 132,497,586RGDNCBI36
CeleraX133,056,691 - 133,056,817RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,070,370 - 122,070,496UniSTS
GeneMap99-GB4 RH MapX314.67UniSTS
G18198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,825,569 - 132,825,658UniSTSGRCh37
Build 36X132,653,235 - 132,653,324RGDNCBI36
CeleraX133,212,354 - 133,212,443RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,225,892 - 122,225,981UniSTS
L77880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,888,100 - 132,888,174UniSTSGRCh37
Build 36X132,715,766 - 132,715,840RGDNCBI36
CeleraX133,274,891 - 133,274,965RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,288,159 - 122,288,233UniSTS
L77882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,730,500 - 132,730,569UniSTSGRCh37
Build 36X132,558,166 - 132,558,235RGDNCBI36
CeleraX133,117,285 - 133,117,354RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,130,769 - 122,130,838UniSTS
A009Z03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,996,181 - 132,996,309UniSTSGRCh37
Build 36X132,823,847 - 132,823,975RGDNCBI36
CeleraX133,382,969 - 133,383,097RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,395,799 - 122,395,927UniSTS
GeneMap99-GB4 RH MapX318.1UniSTS
NCBI RH MapX691.8UniSTS
AL008948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,799,940 - 132,800,117UniSTSGRCh37
Build 36X132,627,606 - 132,627,783RGDNCBI36
CeleraX133,186,725 - 133,186,902RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,200,690 - 122,200,867UniSTS
STS-H93110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,786,288 - 132,786,421UniSTSGRCh37
Build 36X132,613,954 - 132,614,087RGDNCBI36
CeleraX133,173,073 - 133,173,206RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,186,448 - 122,186,581UniSTS
GeneMap99-GB4 RH MapX315.91UniSTS
RH16248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,031,768 - 133,031,911UniSTSGRCh37
Build 36X132,859,434 - 132,859,577RGDNCBI36
CeleraX133,418,558 - 133,418,701RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,430,882 - 122,431,025UniSTS
GeneMap99-GB4 RH MapX316.55UniSTS
NCBI RH MapX678.1UniSTS
DXS7596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,789,474 - 132,789,631UniSTSGRCh37
Build 36X132,617,140 - 132,617,297RGDNCBI36
CeleraX133,176,259 - 133,176,416RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,189,634 - 122,189,791UniSTS
SHGC-35150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,027,534 - 133,027,634UniSTSGRCh37
Build 36X132,855,200 - 132,855,300RGDNCBI36
CeleraX133,414,324 - 133,414,424RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,426,842 - 122,426,942UniSTS
GeneMap99-GB4 RH MapX316.87UniSTS
Whitehead-RH MapX291.5UniSTS
NCBI RH MapX698.2UniSTS
AL032559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,032,719 - 133,032,879UniSTSGRCh37
Build 36X132,860,385 - 132,860,545RGDNCBI36
CeleraX133,419,509 - 133,419,669RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,431,833 - 122,431,993UniSTS
AL032585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,044,368 - 133,044,512UniSTSGRCh37
Build 36X132,872,034 - 132,872,178RGDNCBI36
CeleraX133,431,158 - 133,431,302RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,443,481 - 122,443,625UniSTS
AL032586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,116,202 - 133,116,374UniSTSGRCh37
Build 36X132,943,868 - 132,944,040RGDNCBI36
CeleraX133,502,990 - 133,503,162RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,515,068 - 122,515,240UniSTS
UniSTS:99645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,889,395 - 132,889,463UniSTSGRCh37
Build 36X132,717,061 - 132,717,129RGDNCBI36
CeleraX133,276,186 - 133,276,254RGD
HuRefX122,289,454 - 122,289,522UniSTS
DXS6842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,890,253 - 132,890,550UniSTSGRCh37
Build 36X132,717,919 - 132,718,216RGDNCBI36
CeleraX133,277,044 - 133,277,341RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,290,143 - 122,290,440UniSTS
DXS1414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,018,437 - 133,018,496UniSTSGRCh37
Build 36X132,846,103 - 132,846,162RGDNCBI36
CeleraX133,405,227 - 133,405,286RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,417,745 - 122,417,804UniSTS
G66652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,954,399 - 132,955,017UniSTSGRCh37
Build 36X132,782,065 - 132,782,683RGDNCBI36
CeleraX133,341,173 - 133,341,791RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,354,386 - 122,355,004UniSTS
G66657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,073,081 - 133,074,076UniSTSGRCh37
Build 36X132,900,747 - 132,901,742RGDNCBI36
CeleraX133,459,871 - 133,460,866RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,472,120 - 122,473,116UniSTS
G66656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,730,637 - 132,731,637UniSTSGRCh37
Build 36X132,558,303 - 132,559,303RGDNCBI36
CeleraX133,117,422 - 133,118,422RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,130,906 - 122,131,906UniSTS
G66651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,917,202 - 132,918,202UniSTSGRCh37
Build 36X132,744,868 - 132,745,868RGDNCBI36
CeleraX133,303,995 - 133,304,995RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,317,291 - 122,318,291UniSTS
G66688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,114,769 - 133,115,760UniSTSGRCh37
Build 36X132,942,435 - 132,943,426RGDNCBI36
CeleraX133,501,557 - 133,502,548RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,513,725 - 122,514,626UniSTS
G66690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,744,298 - 132,745,294UniSTSGRCh37
Build 36X132,571,964 - 132,572,960RGDNCBI36
CeleraX133,131,083 - 133,132,079RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,144,567 - 122,145,563UniSTS
G66691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,915,223 - 132,916,223UniSTSGRCh37
Build 36X132,742,889 - 132,743,889RGDNCBI36
CeleraX133,302,016 - 133,303,016RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,315,312 - 122,316,312UniSTS
G66692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,831,678 - 132,832,614UniSTSGRCh37
Build 36X132,659,344 - 132,660,280RGDNCBI36
CeleraX133,218,465 - 133,219,401RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,231,875 - 122,232,811UniSTS
RH18522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,984,355 - 132,984,455UniSTSGRCh37
Build 36X132,812,021 - 132,812,121RGDNCBI36
CeleraX133,371,142 - 133,371,242RGD
Cytogenetic MapXq26.1UniSTS
GeneMap99-GB4 RH MapX317.19UniSTS
NCBI RH MapX676.4UniSTS
SHGC-52514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,094,748 - 133,094,879UniSTSGRCh37
Build 36X132,922,414 - 132,922,545RGDNCBI36
CeleraX133,481,538 - 133,481,669RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,493,582 - 122,493,713UniSTS
TNG Radiation Hybrid MapX27296.0UniSTS
GeneMap99-G3 RH MapX4018.0UniSTS
DXS9777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,716,711 - 132,716,840UniSTSGRCh37
Build 36X132,544,377 - 132,544,506RGDNCBI36
CeleraX133,103,381 - 133,103,510RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,116,981 - 122,117,110UniSTS
GeneMap99-G3 RH MapX4018.0UniSTS
L77883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,670,239 - 132,670,309UniSTSGRCh37
Build 36X132,497,905 - 132,497,975RGDNCBI36
CeleraX133,057,136 - 133,057,206RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,070,815 - 122,070,885UniSTS
DXS7314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,877,149 - 132,877,270UniSTSGRCh37
Build 36X132,704,815 - 132,704,936RGDNCBI36
CeleraX133,263,939 - 133,264,060RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,276,912 - 122,277,033UniSTS
L77879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,087,140 - 133,087,227UniSTSGRCh37
Build 36X132,914,806 - 132,914,893RGDNCBI36
CeleraX133,473,930 - 133,474,017RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,486,409 - 122,486,496UniSTS
AL008945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,988,389 - 132,988,510UniSTSGRCh37
Build 36X132,816,055 - 132,816,176RGDNCBI36
CeleraX133,375,177 - 133,375,298RGD
Cytogenetic MapXq26.1UniSTS
RH36204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,901,207 - 132,901,306UniSTSGRCh37
Build 36X132,728,873 - 132,728,972RGDNCBI36
CeleraX133,287,998 - 133,288,097RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,301,262 - 122,301,361UniSTS
GeneMap99-GB4 RH MapX317.19UniSTS
NCBI RH MapX676.4UniSTS
SHGC-34460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,996,117 - 132,996,248UniSTSGRCh37
Build 36X132,823,783 - 132,823,914RGDNCBI36
CeleraX133,382,905 - 133,383,036RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,395,735 - 122,395,866UniSTS
GeneMap99-GB4 RH MapX316.55UniSTS
Whitehead-RH MapX291.5UniSTS
NCBI RH MapX701.4UniSTS
SHGC-34872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,031,774 - 133,031,923UniSTSGRCh37
Build 36X132,859,440 - 132,859,589RGDNCBI36
CeleraX133,418,564 - 133,418,713RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,430,888 - 122,431,037UniSTS
GeneMap99-GB4 RH MapX316.87UniSTS
Whitehead-RH MapX291.5UniSTS
NCBI RH MapX698.2UniSTS
GeneMap99-G3 RH MapX4018.0UniSTS
RH70004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,066,002 - 133,066,181UniSTSGRCh37
Build 36X132,893,668 - 132,893,847RGDNCBI36
CeleraX133,452,792 - 133,452,971RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,465,192 - 122,465,371UniSTS
GeneMap99-GB4 RH MapX317.08UniSTS
NCBI RH MapX690.2UniSTS
RH17563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,996,148 - 132,996,315UniSTSGRCh37
Build 36X132,823,814 - 132,823,981RGDNCBI36
CeleraX133,382,936 - 133,383,103RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,395,766 - 122,395,933UniSTS
GeneMap99-GB4 RH MapX317.19UniSTS
NCBI RH MapX691.8UniSTS
DXS7764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,699,575 - 132,699,744UniSTSGRCh37
Build 36X132,527,241 - 132,527,410RGDNCBI36
CeleraX133,086,473 - 133,086,642RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,100,182 - 122,100,351UniSTS
WI-16747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,984,256 - 132,984,374UniSTSGRCh37
Build 36X132,811,922 - 132,812,040RGDNCBI36
CeleraX133,371,043 - 133,371,161RGD
Cytogenetic MapXq26.1UniSTS
GeneMap99-GB4 RH MapX316.55UniSTS
Whitehead-RH MapX291.5UniSTS
NCBI RH MapX699.8UniSTS
DXS7315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,021,857 - 133,021,916UniSTSGRCh37
Build 36X132,849,523 - 132,849,582RGDNCBI36
CeleraX133,408,647 - 133,408,706RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,421,165 - 122,421,224UniSTS
L76269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,971,180 - 132,971,278UniSTSGRCh37
Build 36X132,798,846 - 132,798,944RGDNCBI36
CeleraX133,357,951 - 133,358,049RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,371,341 - 122,371,439UniSTS
RH68769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,027,555 - 133,027,703UniSTSGRCh37
Build 36X132,855,221 - 132,855,369RGDNCBI36
CeleraX133,414,345 - 133,414,493RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,426,863 - 122,427,011UniSTS
GeneMap99-GB4 RH MapX317.19UniSTS
NCBI RH MapX688.6UniSTS
L77878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,119,302 - 133,119,380UniSTSGRCh37
Build 36X132,946,968 - 132,947,046RGDNCBI36
CeleraX133,506,090 - 133,506,168RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,518,168 - 122,518,246UniSTS
L47619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,018,377 - 133,018,460UniSTSGRCh37
Build 36X132,846,043 - 132,846,126RGDNCBI36
CeleraX133,405,167 - 133,405,250RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,417,685 - 122,417,768UniSTS
RH45404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,034,679 - 133,034,871UniSTSGRCh37
Build 36X132,862,345 - 132,862,537RGDNCBI36
CeleraX133,421,469 - 133,421,661RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,433,793 - 122,433,985UniSTS
GeneMap99-GB4 RH MapX318.1UniSTS
NCBI RH MapX676.4UniSTS
SHGC-35437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,669,891 - 132,670,111UniSTSGRCh37
Build 36X132,497,557 - 132,497,777RGDNCBI36
CeleraX133,056,788 - 133,057,008RGD
Cytogenetic MapXq26.1UniSTS
HuRefX122,070,467 - 122,070,687UniSTS
G33003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,996,181 - 132,996,309UniSTSGRCh37
CeleraX133,382,969 - 133,383,097UniSTS
Cytogenetic MapXq26.1UniSTS
HuRefX122,395,799 - 122,395,927UniSTS
GDB:182527  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q11.21UniSTS
Cytogenetic MapXq26.1UniSTS
L77881  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR219A1hsa-miR-219a-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI22449976
MIR219A2hsa-miR-219-5pOncomiRDBexternal_infoNANA22449976
MIR1271hsa-miR-1271-5pOncomiRDBexternal_infoNANA22865282

Predicted Target Of
Summary Value
Count of predictions:836
Count of miRNA genes:440
Interacting mature miRNAs:470
Transcripts:ENST00000370818, ENST00000394299, ENST00000406757, ENST00000543339
Prediction methods:Miranda, Pita, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 1 42 42 42 19 14 5 1
Medium 933 1172 1159 220 107 102 2892 447 941 208 552 1333 119 1204 1687 1
Low 1422 1081 432 288 472 245 1380 1648 1399 150 831 153 45 1047 3
Below cutoff 45 669 80 69 763 72 69 82 1341 30 33 62 5 1 54

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL009174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX329946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS208011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS610131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB107651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ349136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ349137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ349138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB867196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ943686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX533474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z37987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370818   ⟹   ENSP00000359854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,535,745 - 133,985,594 (-)Ensembl
RefSeq Acc Id: ENST00000394299   ⟹   ENSP00000377836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,535,745 - 133,985,594 (-)Ensembl
RefSeq Acc Id: ENST00000406757   ⟹   ENSP00000385307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,596,366 - 133,753,702 (-)Ensembl
RefSeq Acc Id: ENST00000631057   ⟹   ENSP00000486325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,536,124 - 133,985,449 (-)Ensembl
RefSeq Acc Id: ENST00000666017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,536,149 - 133,662,111 (-)Ensembl
RefSeq Acc Id: ENST00000666673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,536,149 - 133,753,707 (-)Ensembl
RefSeq Acc Id: ENST00000667662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,536,149 - 133,703,106 (-)Ensembl
RefSeq Acc Id: ENST00000669691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,535,745 - 133,702,694 (-)Ensembl
RefSeq Acc Id: NM_001164617   ⟹   NP_001158089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,535,745 - 133,985,594 (-)NCBI
GRCh37X132,669,773 - 133,119,673 (-)ENTREZGENE
HuRefX122,070,349 - 122,518,471 (-)ENTREZGENE
CHM1_1X132,581,479 - 133,031,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164618   ⟹   NP_001158090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,535,745 - 133,985,594 (-)NCBI
GRCh37X132,669,773 - 133,119,673 (-)ENTREZGENE
HuRefX122,070,349 - 122,518,471 (-)ENTREZGENE
CHM1_1X132,581,479 - 133,031,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001164619   ⟹   NP_001158091
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,535,745 - 133,985,594 (-)NCBI
GRCh37X132,669,773 - 133,119,673 (-)ENTREZGENE
HuRefX122,070,349 - 122,518,471 (-)ENTREZGENE
CHM1_1X132,581,479 - 133,031,377 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004484   ⟹   NP_004475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,535,745 - 133,985,594 (-)NCBI
GRCh37X132,669,773 - 133,119,673 (-)ENTREZGENE
Build 36X132,497,439 - 132,947,332 (-)NCBI Archive
HuRefX122,070,349 - 122,518,471 (-)ENTREZGENE
CHM1_1X132,581,479 - 133,031,377 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029413   ⟹   XP_016884902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,674,922 - 133,985,616 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001158091   ⟸   NM_001164619
- Peptide Label: isoform 4 precursor
- UniProtKB: P51654 (UniProtKB/Swiss-Prot),   Q53H15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158090   ⟸   NM_001164618
- Peptide Label: isoform 3 precursor
- UniProtKB: B4DTD8 (UniProtKB/TrEMBL),   Q53H15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004475   ⟸   NM_004484
- Peptide Label: isoform 2 precursor
- UniProtKB: P51654 (UniProtKB/Swiss-Prot),   I6QTG3 (UniProtKB/TrEMBL),   Q53H15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158089   ⟸   NM_001164617
- Peptide Label: isoform 1 precursor
- UniProtKB: P51654 (UniProtKB/Swiss-Prot),   Q53H15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884902   ⟸   XM_017029413
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359854   ⟸   ENST00000370818
RefSeq Acc Id: ENSP00000385307   ⟸   ENST00000406757
RefSeq Acc Id: ENSP00000377836   ⟸   ENST00000394299
RefSeq Acc Id: ENSP00000486325   ⟸   ENST00000631057

Promoters
RGD ID:13628134
Promoter ID:EPDNEW_H29342
Type:initiation region
Name:GPC3_3
Description:glypican 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29343  EPDNEW_H29344  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,985,490 - 133,985,550EPDNEW
RGD ID:13628136
Promoter ID:EPDNEW_H29343
Type:initiation region
Name:GPC3_1
Description:glypican 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29342  EPDNEW_H29344  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,985,594 - 133,985,654EPDNEW
RGD ID:13628138
Promoter ID:EPDNEW_H29344
Type:initiation region
Name:GPC3_2
Description:glypican 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29342  EPDNEW_H29343  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,985,908 - 133,985,968EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004484.3(GPC3):c.1114G>A (p.Val372Ile) single nucleotide variant Wilms tumor 1 [RCV000543927] ChrX:133699947 [GRCh38]
ChrX:132833975 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1212T>C (p.Ala404=) single nucleotide variant Wilms tumor 1 [RCV000545582] ChrX:133692449 [GRCh38]
ChrX:132826477 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.485A>G (p.Asn162Ser) single nucleotide variant Wilms tumor 1 [RCV000542028] ChrX:133754029 [GRCh38]
ChrX:132888056 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.986A>G (p.Asp329Gly) single nucleotide variant Wilms tumor 1 [RCV000550824] ChrX:133753528 [GRCh38]
ChrX:132887555 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1716G>C (p.Val572=) single nucleotide variant Wilms tumor 1 [RCV000553959] ChrX:133536151 [GRCh38]
ChrX:132670179 [GRCh37]
ChrX:Xq26.2
benign
NM_001164617.2(GPC3):c.496A>G (p.Met166Val) single nucleotide variant Intellectual disability [RCV001260620]|Wilms tumor 1 [RCV000554637] ChrX:133754018 [GRCh38]
ChrX:132888045 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.672A>G (p.Gln224=) single nucleotide variant Wilms tumor 1 [RCV000557057] ChrX:133753842 [GRCh38]
ChrX:132887869 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1224C>T (p.Tyr408=) single nucleotide variant Wilms tumor 1 [RCV000557844] ChrX:133692437 [GRCh38]
ChrX:132826465 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.608G>A (p.Arg203His) single nucleotide variant Wilms tumor 1 [RCV000560504] ChrX:133753906 [GRCh38]
ChrX:132887933 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.838G>A (p.Val280Met) single nucleotide variant Wilms tumor 1 [RCV000549780] ChrX:133753676 [GRCh38]
ChrX:132887703 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.338-4A>T single nucleotide variant Wilms tumor 1 [RCV000553047] ChrX:133754180 [GRCh38]
ChrX:132888207 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.1160G>A (p.Arg387Gln) single nucleotide variant Wilms tumor 1 [RCV000556456] ChrX:133699901 [GRCh38]
ChrX:132833929 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_001164619.2(GPC3):c.175+32082_175+32094del deletion Simpson-Golabi-Behmel syndrome type 1 [RCV000012451] ChrX:133953181..133953193 [GRCh38]
ChrX:133087208..133087220 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs) deletion Simpson-Golabi-Behmel syndrome type 1 [RCV000012452] ChrX:Xq26 pathogenic
NM_004484.3(GPC3):c.1292+1G>T single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV000012454] ChrX:133692368 [GRCh38]
ChrX:132826396 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del deletion Simpson-Golabi-Behmel syndrome type 1 [RCV000012458] ChrX:133661730..133661850 [GRCh38]
ChrX:132795758..132795878 [GRCh37]
ChrX:Xq26
pathogenic
NM_004484.3(GPC3):c.337+1G>A single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV000012459] ChrX:133953049 [GRCh38]
ChrX:133087076 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_004484.3(GPC3):c.1534G>A (p.Gly512Arg) single nucleotide variant Wilms tumor 1 [RCV000548343] ChrX:133596479 [GRCh38]
ChrX:132730507 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001164617.2(GPC3):c.222A>C (p.Ser74=) single nucleotide variant not specified [RCV000516432] ChrX:133953165 [GRCh38]
ChrX:133087192 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.584A>G (p.Asn195Ser) single nucleotide variant Wilms tumor 1 [RCV000543120] ChrX:133753930 [GRCh38]
ChrX:132887957 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.62C>A (p.Pro21Gln) single nucleotide variant Wilms tumor 1 [RCV000544495] ChrX:133985388 [GRCh38]
ChrX:133119415 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV000012453] ChrX:133753628 [GRCh38]
ChrX:132887655 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV000012455]|Wilms tumor 1 [RCV000692634]|not provided [RCV000579176] ChrX:133753919 [GRCh38]
ChrX:132887946 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.361C>T (p.His121Tyr) single nucleotide variant Wilms tumor 1 [RCV000012456] ChrX:133754153 [GRCh38]
ChrX:132888180 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_004484.3(GPC3):c.1705G>A (p.Ala569Thr) single nucleotide variant Wilms tumor 1 [RCV000012457] ChrX:133536162 [GRCh38]
ChrX:132670190 [GRCh37]
ChrX:Xq26.2
pathogenic|other
NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter) single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV000012460]|Wilms tumor 1 [RCV000653751]|not provided [RCV000725910] ChrX:133699902 [GRCh38]
ChrX:132833930 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000718242]|Simpson-Golabi-Behmel syndrome type 1 [RCV000012461] ChrX:133536201 [GRCh38]
ChrX:132670229 [GRCh37]
ChrX:Xq26.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133909683-135211108)x1 copy number loss See cases [RCV000050881] ChrX:133909683..135211108 [GRCh38]
ChrX:133043710..134345039 [GRCh37]
ChrX:132871376..134172705 [NCBI36]
ChrX:Xq26.2-26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.2(chrX:133474724-133869312)x2 copy number gain See cases [RCV000052468] ChrX:133474724..133869312 [GRCh38]
ChrX:132608752..133003339 [GRCh37]
ChrX:132436418..132831005 [NCBI36]
ChrX:Xq26.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.1430C>T (p.Ser477Phe) single nucleotide variant Malignant melanoma [RCV000063945] ChrX:133596583 [GRCh38]
ChrX:132730611 [GRCh37]
ChrX:132558277 [NCBI36]
ChrX:Xq26.2
not provided
NM_004484.3(GPC3):c.171G>A (p.Val57=) single nucleotide variant Wilms tumor 1 [RCV001078980]|not provided [RCV000081104] ChrX:133985279 [GRCh38]
ChrX:133119306 [GRCh37]
ChrX:Xq26.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716415]|Wilms tumor 1 [RCV001079309]|not provided [RCV000514472]|not specified [RCV000121183] ChrX:133753688 [GRCh38]
ChrX:132887715 [GRCh37]
ChrX:Xq26.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004484.3(GPC3):c.358C>T (p.Arg120Cys) single nucleotide variant Wilms tumor 1 [RCV000228682]|not specified [RCV000121182] ChrX:133754156 [GRCh38]
ChrX:132888183 [GRCh37]
ChrX:Xq26.2
benign|not provided
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met) single nucleotide variant History of neurodevelopmental disorder [RCV000716056]|Wilms tumor 1 [RCV001082341]|not provided [RCV000514274]|not specified [RCV000121184] ChrX:133692376 [GRCh38]
ChrX:132826404 [GRCh37]
ChrX:Xq26.2
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_004484.3(GPC3):c.1426A>T (p.Met476Leu) single nucleotide variant Wilms tumor 1 [RCV001054235]|not specified [RCV000121185] ChrX:133596587 [GRCh38]
ChrX:132730615 [GRCh37]
ChrX:Xq26.2
uncertain significance|not provided
NM_004484.3(GPC3):c.1626A>G (p.Ala542=) single nucleotide variant History of neurodevelopmental disorder [RCV000716283]|Wilms tumor 1 [RCV000470318]|not provided [RCV000586499]|not specified [RCV000125253] ChrX:133536241 [GRCh38]
ChrX:132670269 [GRCh37]
ChrX:Xq26.2
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004484.4(GPC3):c.583A>G (p.Asn195Asp) single nucleotide variant Wilms tumor 1 [RCV001348336] ChrX:133753931 [GRCh38]
ChrX:132887958 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser) single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV001292671]|Wilms tumor 1 [RCV001296605] ChrX:133536227 [GRCh38]
ChrX:132670255 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_132670132)_(132888223_?)del deletion Wilms tumor 1 [RCV001032908] ChrX:132670132..132888223 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.1692del (p.Leu565fs) deletion Simpson-Golabi-Behmel syndrome type 1 [RCV000256430] ChrX:133536175 [GRCh38]
ChrX:132670203 [GRCh37]
ChrX:Xq26.2
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq26.2(chrX:133541265-133790435)x3 copy number gain See cases [RCV000134934] ChrX:133541265..133790435 [GRCh38]
ChrX:132675293..132924462 [GRCh37]
ChrX:132502959..132752128 [NCBI36]
ChrX:Xq26.2
likely benign|uncertain significance
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq26.2(chrX:133687309-134090471)x0 copy number loss See cases [RCV000136102] ChrX:133687309..134090471 [GRCh38]
ChrX:132821337..133224500 [GRCh37]
ChrX:132649003..133052166 [NCBI36]
ChrX:Xq26.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.338-5del deletion History of neurodevelopmental disorder [RCV000715974]|Wilms tumor 1 [RCV000990947]|not specified [RCV000202708] ChrX:133754181 [GRCh38]
ChrX:132888208 [GRCh37]
ChrX:Xq26.2
benign
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133960528-134514299)x3 copy number gain See cases [RCV000137403] ChrX:133960528..134514299 [GRCh38]
ChrX:133094555..133648329 [GRCh37]
ChrX:132922221..133475995 [NCBI36]
ChrX:Xq26.2-26.3
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq26.2(chrX:133531315-133536007)x1 copy number loss See cases [RCV000138564] ChrX:133531315..133536007 [GRCh38]
ChrX:132665343..132670035 [GRCh37]
ChrX:132493009..132497701 [NCBI36]
ChrX:Xq26.2
likely benign|conflicting data from submitters
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.2(chrX:133331386-133707771)x3 copy number gain See cases [RCV000143516] ChrX:133331386..133707771 [GRCh38]
ChrX:132465414..132841799 [GRCh37]
ChrX:132293080..132669465 [NCBI36]
ChrX:Xq26.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.1437del (p.Gly481fs) deletion not provided [RCV000254844] ChrX:133596576 [GRCh38]
ChrX:132730604 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.1398G>A (p.Leu466=) single nucleotide variant Wilms tumor 1 [RCV001079008]|not provided [RCV000179442] ChrX:133661745 [GRCh38]
ChrX:132795773 [GRCh37]
ChrX:Xq26.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004484.3(GPC3):c.761G>T (p.Arg254Leu) single nucleotide variant Wilms tumor 1 [RCV000558407] ChrX:133753753 [GRCh38]
ChrX:132887780 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NC_000023.10:g.(?_132887489)_(132888223_?)dup duplication Wilms tumor 1 [RCV000544846] ChrX:133753462..133754196 [GRCh38]
ChrX:132887489..132888223 [GRCh37]
ChrX:Xq26.2
likely pathogenic
NM_004484.3(GPC3):c.1002C>T (p.Val334=) single nucleotide variant Wilms tumor 1 [RCV000555407] ChrX:133753512 [GRCh38]
ChrX:132887539 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.761G>A (p.Arg254Gln) single nucleotide variant Wilms tumor 1 [RCV000550701] ChrX:133753753 [GRCh38]
ChrX:132887780 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1296C>T (p.Tyr432=) single nucleotide variant Wilms tumor 1 [RCV000551470] ChrX:133661847 [GRCh38]
ChrX:132795875 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq26.2(chrX:132834006-132986815) copy number loss Simpson-Golabi-Behmel syndrome type 1 [RCV000210226] ChrX:132834006..132986815 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.995A>G (p.Gln332Arg) single nucleotide variant Wilms tumor 1 [RCV000229536]|not specified [RCV000780321] ChrX:133753519 [GRCh38]
ChrX:132887546 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1085A>G (p.Tyr362Cys) single nucleotide variant Wilms tumor 1 [RCV000227961] ChrX:133699976 [GRCh38]
ChrX:132834004 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.660C>T (p.Ser220=) single nucleotide variant History of neurodevelopmental disorder [RCV000718197]|Wilms tumor 1 [RCV001084445]|not provided [RCV000488175]|not specified [RCV000611339] ChrX:133753854 [GRCh38]
ChrX:132887881 [GRCh37]
ChrX:Xq26.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004484.3(GPC3):c.1631C>T (p.Pro544Leu) single nucleotide variant Wilms tumor 1 [RCV000228231] ChrX:133536236 [GRCh38]
ChrX:132670264 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1574-?_*379+?del deletion Wilms tumor 1 [RCV000230522]   pathogenic
NM_001164617.2(GPC3):c.1236-8T>C single nucleotide variant Wilms tumor 1 [RCV001083432]|not provided [RCV000711833]|not specified [RCV000422666] ChrX:133692502 [GRCh38]
ChrX:132826530 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.175+9G>A single nucleotide variant Wilms tumor 1 [RCV000225900] ChrX:133985266 [GRCh38]
ChrX:133119293 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.-197-?_*379+?dup duplication Wilms tumor 1 [RCV000233063]   uncertain significance
NM_004484.3(GPC3):c.392A>G (p.Lys131Arg) single nucleotide variant Wilms tumor 1 [RCV000231451] ChrX:133754122 [GRCh38]
ChrX:132888149 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.1232G>T (p.Ser411Ile) single nucleotide variant Wilms tumor 1 [RCV000233542] ChrX:133692429 [GRCh38]
ChrX:132826457 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.172C>T (p.Pro58Ser) single nucleotide variant Wilms tumor 1 [RCV000232134] ChrX:133985278 [GRCh38]
ChrX:133119305 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.876T>C (p.Ile292=) single nucleotide variant Wilms tumor 1 [RCV000233058]|not specified [RCV000418613] ChrX:133753638 [GRCh38]
ChrX:132887665 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.1574-7_1574-4del microsatellite Wilms tumor 1 [RCV000234446]|not specified [RCV000242617] ChrX:133536297..133536300 [GRCh38]
ChrX:132670325..132670328 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.648G>C (p.Met216Ile) single nucleotide variant Wilms tumor 1 [RCV000226359] ChrX:133753866 [GRCh38]
ChrX:132887893 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.1573+10T>A single nucleotide variant not provided [RCV000228892] ChrX:133596430 [GRCh38]
ChrX:132730458 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.972T>C (p.Phe324=) single nucleotide variant Wilms tumor 1 [RCV000226760] ChrX:133753542 [GRCh38]
ChrX:132887569 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1275A>G (p.Gly425=) single nucleotide variant Wilms tumor 1 [RCV000227321] ChrX:133692386 [GRCh38]
ChrX:132826414 [GRCh37]
ChrX:Xq26.2
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0 copy number loss See cases [RCV000239967] ChrX:129760788..132675352 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.802C>T (p.Leu268=) single nucleotide variant Wilms tumor 1 [RCV000937747]|not specified [RCV000600979] ChrX:133753712 [GRCh38]
ChrX:132887739 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129796796-132686500)x0 copy number loss See cases [RCV000240002] ChrX:129796796..132686500 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.176-40G>C single nucleotide variant not specified [RCV000250954] ChrX:133953251 [GRCh38]
ChrX:133087278 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.175+1G>A single nucleotide variant not provided [RCV000255780] ChrX:133985274 [GRCh38]
ChrX:133119301 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_001164619.2(GPC3):c.175+32101_175+32102del deletion not provided [RCV000255914] ChrX:133953173..133953174 [GRCh38]
ChrX:133087200..133087201 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.1500T>C (p.Asp500=) single nucleotide variant History of neurodevelopmental disorder [RCV000716284]|Wilms tumor 1 [RCV000473514]|not provided [RCV000590033]|not specified [RCV000250645] ChrX:133596513 [GRCh38]
ChrX:132730541 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.4(GPC3):c.338-6_338-5del deletion not provided [RCV000860969]|not specified [RCV000376926] ChrX:133754181..133754182 [GRCh38]
ChrX:132888208..132888209 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.136C>G (p.Gln46Glu) single nucleotide variant not specified [RCV000603976] ChrX:133985314 [GRCh38]
ChrX:133119341 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.706G>T (p.Gly236Ter) single nucleotide variant not provided [RCV001092160] ChrX:133753808 [GRCh38]
ChrX:132887835 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.338-1G>T single nucleotide variant not provided [RCV000723183] ChrX:133754177 [GRCh38]
ChrX:132888204 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1068A>G (p.Gln356=) single nucleotide variant Wilms tumor 1 [RCV000531597] ChrX:133699993 [GRCh38]
ChrX:132834021 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.955G>A (p.Val319Ile) single nucleotide variant not provided [RCV000538220] ChrX:133753559 [GRCh38]
ChrX:132887586 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.175G>T (p.Gly59Ter) single nucleotide variant not provided [RCV000413842] ChrX:133985275 [GRCh38]
ChrX:133119302 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:132717903-133097197)x2 copy number gain See cases [RCV000446914] ChrX:132717903..133097197 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133107292-134142245)x2 copy number gain See cases [RCV000446156] ChrX:133107292..134142245 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.39G>T (p.Ala13=) single nucleotide variant Wilms tumor 1 [RCV000456147]|not specified [RCV000427147] ChrX:133985411 [GRCh38]
ChrX:133119438 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.-19T>A single nucleotide variant not specified [RCV000441484] ChrX:133985468 [GRCh38]
ChrX:133119495 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004484.3(GPC3):c.667C>T (p.Leu223=) single nucleotide variant not specified [RCV000438343] ChrX:133753847 [GRCh38]
ChrX:132887874 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004484.3(GPC3):c.355G>T (p.Val119Phe) single nucleotide variant Wilms tumor 1 [RCV000470169] ChrX:133754159 [GRCh38]
ChrX:132888186 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.93G>A (p.Pro31=) single nucleotide variant Wilms tumor 1 [RCV000470462] ChrX:133985357 [GRCh38]
ChrX:133119384 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1259C>G (p.Thr420Ser) single nucleotide variant Wilms tumor 1 [RCV000463354] ChrX:133692402 [GRCh38]
ChrX:132826430 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_132795758)_(132888203_?)del deletion Wilms tumor 1 [RCV000474446] ChrX:132795758..132888203 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.889A>G (p.Arg297Gly) single nucleotide variant Wilms tumor 1 [RCV000467272] ChrX:133753625 [GRCh38]
ChrX:132887652 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.414T>C (p.Thr138=) single nucleotide variant Wilms tumor 1 [RCV000473486] ChrX:133754100 [GRCh38]
ChrX:132888127 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.897C>T (p.Tyr299=) single nucleotide variant Wilms tumor 1 [RCV000463669] ChrX:133753617 [GRCh38]
ChrX:132887644 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.1032+9C>T single nucleotide variant Wilms tumor 1 [RCV000464390] ChrX:133753473 [GRCh38]
ChrX:132887500 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.367A>G (p.Lys123Glu) single nucleotide variant Wilms tumor 1 [RCV000468256] ChrX:133754147 [GRCh38]
ChrX:132888174 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1632G>A (p.Pro544=) single nucleotide variant Wilms tumor 1 [RCV000471951] ChrX:133536235 [GRCh38]
ChrX:132670263 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.788C>G (p.Ser263Cys) single nucleotide variant Wilms tumor 1 [RCV000476058] ChrX:133753726 [GRCh38]
ChrX:132887753 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1738C>T (p.His580Tyr) single nucleotide variant Wilms tumor 1 [RCV000457346] ChrX:133536129 [GRCh38]
ChrX:132670157 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.983A>G (p.His328Arg) single nucleotide variant Wilms tumor 1 [RCV000464924] ChrX:133753531 [GRCh38]
ChrX:132887558 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.4(GPC3):c.79_81CCG[6] (p.Pro31dup) microsatellite Wilms tumor 1 [RCV000472641] ChrX:133985356..133985357 [GRCh38]
ChrX:133119383..133119384 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.1254C>T (p.Asn418=) single nucleotide variant Wilms tumor 1 [RCV000457758] ChrX:133692407 [GRCh38]
ChrX:132826435 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1037G>T (p.Gly346Val) single nucleotide variant Wilms tumor 1 [RCV000457851] ChrX:133700024 [GRCh38]
ChrX:132834052 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_001164617.2(GPC3):c.204G>A (p.Lys68=) single nucleotide variant History of neurodevelopmental disorder [RCV000716493]|Wilms tumor 1 [RCV001081250]|not provided [RCV000587825]|not specified [RCV000518171] ChrX:133953183 [GRCh38]
ChrX:133087210 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1130A>G (p.His377Arg) single nucleotide variant Wilms tumor 1 [RCV000461954] ChrX:133699931 [GRCh38]
ChrX:132833959 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1162A>G (p.Arg388Gly) single nucleotide variant Wilms tumor 1 [RCV000458455] ChrX:133699899 [GRCh38]
ChrX:132833927 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.516C>T (p.Asp172=) single nucleotide variant Wilms tumor 1 [RCV000466178] ChrX:133753998 [GRCh38]
ChrX:132888025 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.359G>A (p.Arg120His) single nucleotide variant Wilms tumor 1 [RCV000458695] ChrX:133754155 [GRCh38]
ChrX:132888182 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:132183437-134848915)x2 copy number gain See cases [RCV000512017] ChrX:132183437..134848915 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004484.3(GPC3):c.913G>A (p.Glu305Lys) single nucleotide variant Wilms tumor 1 [RCV000697733] ChrX:133753601 [GRCh38]
ChrX:132887628 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133081342-135086194)x0 copy number loss See cases [RCV000510757] ChrX:133081342..135086194 [GRCh37]
ChrX:Xq26.2-26.3
pathogenic
NM_004484.3(GPC3):c.1032+10_1032+11delinsTT indel Wilms tumor 1 [RCV000525308] ChrX:133753471..133753472 [GRCh38]
ChrX:132887498..132887499 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.844A>G (p.Met282Val) single nucleotide variant Wilms tumor 1 [RCV000525913] ChrX:133753670 [GRCh38]
ChrX:132887697 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.1177C>T (p.Gln393Ter) single nucleotide variant not provided [RCV000578571] ChrX:133692484 [GRCh38]
ChrX:132826512 [GRCh37]
ChrX:Xq26.2
likely pathogenic
NM_004484.3(GPC3):c.430T>A (p.Phe144Ile) single nucleotide variant Wilms tumor 1 [RCV000529184] ChrX:133754084 [GRCh38]
ChrX:132888111 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.549G>T (p.Met183Ile) single nucleotide variant Wilms tumor 1 [RCV000530516] ChrX:133753965 [GRCh38]
ChrX:132887992 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001164617.2(GPC3):c.629_654delinsCTTGCA (p.Asn210fs) indel Wilms tumor 1 [RCV000532170] ChrX:133753860..133753885 [GRCh38]
ChrX:132887887..132887912 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.1528G>A (p.Gly510Ser) single nucleotide variant Wilms tumor 1 [RCV000535379] ChrX:133596485 [GRCh38]
ChrX:132730513 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001164617.2(GPC3):c.1230_1232AAG[1] (p.Arg412del) microsatellite Wilms tumor 1 [RCV000537510] ChrX:133699895..133699897 [GRCh38]
ChrX:132833923..132833925 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1263T>G (p.Leu421=) single nucleotide variant Wilms tumor 1 [RCV000870700]|not specified [RCV000607964] ChrX:133692398 [GRCh38]
ChrX:132826426 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.727A>G (p.Thr243Ala) single nucleotide variant Wilms tumor 1 [RCV000538077] ChrX:133753787 [GRCh38]
ChrX:132887814 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.249A>G (p.Leu83=) single nucleotide variant not provided [RCV000540695] ChrX:133953138 [GRCh38]
ChrX:133087165 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.-39G>A single nucleotide variant not specified [RCV000615972] ChrX:133985488 [GRCh38]
ChrX:133119515 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1686G>C (p.Leu562=) single nucleotide variant Wilms tumor 1 [RCV000541349] ChrX:133536181 [GRCh38]
ChrX:132670209 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.220T>G (p.Ser74Ala) single nucleotide variant Wilms tumor 1 [RCV000653750] ChrX:133953167 [GRCh38]
ChrX:133087194 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1409A>G (p.Asn470Ser) single nucleotide variant Wilms tumor 1 [RCV000653752] ChrX:133661734 [GRCh38]
ChrX:132795762 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.826G>T (p.Gly276Cys) single nucleotide variant Wilms tumor 1 [RCV000653753] ChrX:133753688 [GRCh38]
ChrX:132887715 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1318G>A (p.Gly440Arg) single nucleotide variant Wilms tumor 1 [RCV000653754] ChrX:133661825 [GRCh38]
ChrX:132795853 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.526C>G (p.Pro176Ala) single nucleotide variant Wilms tumor 1 [RCV000653755] ChrX:133753988 [GRCh38]
ChrX:132888015 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1601A>G (p.Asp534Gly) single nucleotide variant not provided [RCV000653756] ChrX:133536266 [GRCh38]
ChrX:132670294 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.602C>A (p.Ala201Glu) single nucleotide variant Wilms tumor 1 [RCV000653757] ChrX:133753912 [GRCh38]
ChrX:132887939 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1306G>T (p.Ala436Ser) single nucleotide variant Wilms tumor 1 [RCV000653758] ChrX:133661837 [GRCh38]
ChrX:132795865 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1087C>T (p.Pro363Ser) single nucleotide variant Wilms tumor 1 [RCV000653759] ChrX:133699974 [GRCh38]
ChrX:132834002 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.805A>T (p.Met269Leu) single nucleotide variant Wilms tumor 1 [RCV000653760] ChrX:133753709 [GRCh38]
ChrX:132887736 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1713G>A (p.Ser571=) single nucleotide variant Wilms tumor 1 [RCV000653761] ChrX:133536154 [GRCh38]
ChrX:132670182 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.1680C>T (p.Ser560=) single nucleotide variant Wilms tumor 1 [RCV000653762] ChrX:133536187 [GRCh38]
ChrX:132670215 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1131T>C (p.His377=) single nucleotide variant Wilms tumor 1 [RCV000653763] ChrX:133699930 [GRCh38]
ChrX:132833958 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.459T>G (p.Ser153=) single nucleotide variant not provided [RCV000653764] ChrX:133754055 [GRCh38]
ChrX:132888082 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.337+8C>G single nucleotide variant not provided [RCV000653765] ChrX:133953042 [GRCh38]
ChrX:133087069 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.384C>T (p.Ala128=) single nucleotide variant Wilms tumor 1 [RCV000653766] ChrX:133754130 [GRCh38]
ChrX:132888157 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.168C>G (p.Pro56=) single nucleotide variant Wilms tumor 1 [RCV000653767] ChrX:133985282 [GRCh38]
ChrX:133119309 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1293-5T>C single nucleotide variant Wilms tumor 1 [RCV000653768] ChrX:133661855 [GRCh38]
ChrX:132795883 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.1426A>G (p.Met476Val) single nucleotide variant Wilms tumor 1 [RCV000653769] ChrX:133596587 [GRCh38]
ChrX:132730615 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1494C>T (p.Cys498=) single nucleotide variant Wilms tumor 1 [RCV000653770] ChrX:133596519 [GRCh38]
ChrX:132730547 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.384C>A (p.Ala128=) single nucleotide variant Wilms tumor 1 [RCV000653771] ChrX:133754130 [GRCh38]
ChrX:132888157 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.1641C>T (p.Asn547=) single nucleotide variant Wilms tumor 1 [RCV000653772] ChrX:133536226 [GRCh38]
ChrX:132670254 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.1737G>A (p.Val579=) single nucleotide variant Wilms tumor 1 [RCV000653773] ChrX:133536130 [GRCh38]
ChrX:132670158 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.1029C>T (p.Thr343=) single nucleotide variant Wilms tumor 1 [RCV000653774] ChrX:133753485 [GRCh38]
ChrX:132887512 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.3(GPC3):c.1568T>C (p.Leu523Pro) single nucleotide variant Wilms tumor 1 [RCV000653749]|Wilms tumor 1 [RCV000766071] ChrX:133596445 [GRCh38]
ChrX:132730473 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1064G>A (p.Arg355His) single nucleotide variant Wilms tumor 1 [RCV000653748] ChrX:133699997 [GRCh38]
ChrX:132834025 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.646A>G (p.Met216Val) single nucleotide variant Wilms tumor 1 [RCV000653747] ChrX:133753868 [GRCh38]
ChrX:132887895 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.80C>T (p.Pro27Leu) single nucleotide variant Wilms tumor 1 [RCV000653746] ChrX:133985370 [GRCh38]
ChrX:133119397 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.569C>T (p.Ser190Leu) single nucleotide variant Wilms tumor 1 [RCV000653745] ChrX:133753945 [GRCh38]
ChrX:132887972 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_001164619.2(GPC3):c.175+32145G>A single nucleotide variant Wilms tumor 1 [RCV000653744] ChrX:133953130 [GRCh38]
ChrX:133087157 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1330C>G (p.Gln444Glu) single nucleotide variant Wilms tumor 1 [RCV000527629] ChrX:133661813 [GRCh38]
ChrX:132795841 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1616G>C (p.Ser539Thr) single nucleotide variant Wilms tumor 1 [RCV000529032] ChrX:133536251 [GRCh38]
ChrX:132670279 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.1287G>A (p.Val429=) single nucleotide variant Wilms tumor 1 [RCV000534020] ChrX:133692374 [GRCh38]
ChrX:132826402 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.832T>C (p.Cys278Arg) single nucleotide variant Wilms tumor 1 [RCV000534602] ChrX:133753682 [GRCh38]
ChrX:132887709 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq26.2(chrX:132736301-132738277)x0 copy number loss See cases [RCV000512148] ChrX:132736301..132738277 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_004484.3(GPC3):c.1307del (p.Ala436fs) deletion Wilms tumor 1 [RCV000697859] ChrX:133661836 [GRCh38]
ChrX:132795864 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.1359G>C (p.Lys453Asn) single nucleotide variant Wilms tumor 1 [RCV000700545] ChrX:133661784 [GRCh38]
ChrX:132795812 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_004484.3(GPC3):c.974C>A (p.Ser325Ter) single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV000681476] ChrX:133753540 [GRCh38]
ChrX:132887567 [GRCh37]
ChrX:Xq26.2
likely pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_004484.3(GPC3):c.919G>C (p.Val307Leu) single nucleotide variant Wilms tumor 1 [RCV000701638] ChrX:133753595 [GRCh38]
ChrX:132887622 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1021C>G (p.Leu341Val) single nucleotide variant Wilms tumor 1 [RCV000687818] ChrX:133753493 [GRCh38]
ChrX:132887520 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.71C>T (p.Ala24Val) single nucleotide variant Wilms tumor 1 [RCV000700551] ChrX:133985379 [GRCh38]
ChrX:133119406 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1139A>G (p.His380Arg) single nucleotide variant Wilms tumor 1 [RCV000700858] ChrX:133699922 [GRCh38]
ChrX:132833950 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.326C>A (p.Ala109Glu) single nucleotide variant Wilms tumor 1 [RCV000701585] ChrX:133953061 [GRCh38]
ChrX:133087088 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1103T>C (p.Ile368Thr) single nucleotide variant Wilms tumor 1 [RCV000690040] ChrX:133699958 [GRCh38]
ChrX:132833986 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.941A>G (p.Tyr314Cys) single nucleotide variant Wilms tumor 1 [RCV000687666] ChrX:133753573 [GRCh38]
ChrX:132887600 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.394A>G (p.Asn132Asp) single nucleotide variant Wilms tumor 1 [RCV000702651] ChrX:133754120 [GRCh38]
ChrX:132888147 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NC_000023.10:g.(?_132795738)_(133119496_?)del deletion Wilms tumor 1 [RCV000707970] ChrX:132795738..133119496 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.305T>C (p.Phe102Ser) single nucleotide variant Wilms tumor 1 [RCV000688897] ChrX:133953082 [GRCh38]
ChrX:133087109 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1264T>A (p.Cys422Ser) single nucleotide variant Inborn genetic diseases [RCV001267137]|Wilms tumor 1 [RCV000705778] ChrX:133692397 [GRCh38]
ChrX:132826425 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1181A>G (p.Lys394Arg) single nucleotide variant Wilms tumor 1 [RCV000699200] ChrX:133692480 [GRCh38]
ChrX:132826508 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1471G>T (p.Glu491Ter) single nucleotide variant Wilms tumor 1 [RCV000684891] ChrX:133596542 [GRCh38]
ChrX:132730570 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.945C>G (p.Asp315Glu) single nucleotide variant Wilms tumor 1 [RCV000689061] ChrX:133753569 [GRCh38]
ChrX:132887596 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1724T>G (p.Phe575Cys) single nucleotide variant Wilms tumor 1 [RCV000694217] ChrX:133536143 [GRCh38]
ChrX:132670171 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1561C>T (p.Arg521Cys) single nucleotide variant Wilms tumor 1 [RCV000689242] ChrX:133596452 [GRCh38]
ChrX:132730480 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1255G>A (p.Asp419Asn) single nucleotide variant Wilms tumor 1 [RCV000693328] ChrX:133692406 [GRCh38]
ChrX:132826434 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.265A>G (p.Met89Val) single nucleotide variant Wilms tumor 1 [RCV000702500] ChrX:133953122 [GRCh38]
ChrX:133087149 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.676A>G (p.Thr226Ala) single nucleotide variant Wilms tumor 1 [RCV000695533] ChrX:133753838 [GRCh38]
ChrX:132887865 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.856A>G (p.Met286Val) single nucleotide variant Wilms tumor 1 [RCV000688472] ChrX:133753658 [GRCh38]
ChrX:132887685 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001164617.2(GPC3):c.1127_1129AAC[1] (p.Gln377del) microsatellite Wilms tumor 1 [RCV000703044] ChrX:133699998..133700000 [GRCh38]
ChrX:132834026..132834028 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.491A>G (p.Asp164Gly) single nucleotide variant Wilms tumor 1 [RCV000705318] ChrX:133754023 [GRCh38]
ChrX:132888050 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.76C>T (p.Pro26Ser) single nucleotide variant Wilms tumor 1 [RCV000705368] ChrX:133985374 [GRCh38]
ChrX:133119401 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1681C>T (p.Pro561Ser) single nucleotide variant Wilms tumor 1 [RCV000699408] ChrX:133536186 [GRCh38]
ChrX:132670214 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.363T>A (p.His121Gln) single nucleotide variant Wilms tumor 1 [RCV000694123] ChrX:133754151 [GRCh38]
ChrX:132888178 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.391A>G (p.Lys131Glu) single nucleotide variant Wilms tumor 1 [RCV000703354] ChrX:133754123 [GRCh38]
ChrX:132888150 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.326C>T (p.Ala109Val) single nucleotide variant Wilms tumor 1 [RCV000701104] ChrX:133953061 [GRCh38]
ChrX:133087088 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1277A>G (p.Gln426Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000718793]|Wilms tumor 1 [RCV001235051] ChrX:133692384 [GRCh38]
ChrX:132826412 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.369G>C (p.Lys123Asn) single nucleotide variant Wilms tumor 1 [RCV000806435] ChrX:133754145 [GRCh38]
ChrX:132888172 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NC_000023.10:g.(?_132887499)_(132888213_?)dup duplication Wilms tumor 1 [RCV000820592] ChrX:133753472..133754186 [GRCh38]
ChrX:132887499..132888213 [GRCh37]
ChrX:Xq26.2
likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq26.2(chrX:132815787-132973332)x0 copy number loss not provided [RCV000753789] ChrX:132815787..132973332 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001164617.2(GPC3):c.1563C>A (p.Cys521Ter) single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV000755692] ChrX:133596519 [GRCh38]
ChrX:132730547 [GRCh37]
ChrX:Xq26.2
likely pathogenic
NM_004484.4(GPC3):c.876T>G (p.Ile292Met) single nucleotide variant Wilms tumor 1 [RCV001046588] ChrX:133753638 [GRCh38]
ChrX:132887665 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1413+4T>C single nucleotide variant Wilms tumor 1 [RCV001046652] ChrX:133661726 [GRCh38]
ChrX:132795754 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_004484.4(GPC3):c.610G>T (p.Asp204Tyr) single nucleotide variant not provided [RCV000983923] ChrX:133753904 [GRCh38]
ChrX:132887931 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.852C>T (p.Gly284=) single nucleotide variant not provided [RCV000944887] ChrX:133753662 [GRCh38]
ChrX:132887689 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1683G>A (p.Pro561=) single nucleotide variant Wilms tumor 1 [RCV000870054] ChrX:133536184 [GRCh38]
ChrX:132670212 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.606A>G (p.Arg202=) single nucleotide variant not provided [RCV000946277] ChrX:133753908 [GRCh38]
ChrX:132887935 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.942T>C (p.Tyr314=) single nucleotide variant Wilms tumor 1 [RCV000867850] ChrX:133753572 [GRCh38]
ChrX:132887599 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1437C>G (p.Pro479=) single nucleotide variant not provided [RCV000882944] ChrX:133596576 [GRCh38]
ChrX:132730604 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1665C>T (p.Leu555=) single nucleotide variant Wilms tumor 1 [RCV000868124] ChrX:133536202 [GRCh38]
ChrX:132670230 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1235A>G (p.His412Arg) single nucleotide variant Wilms tumor 1 [RCV001055006] ChrX:133692426 [GRCh38]
ChrX:132826454 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.4(GPC3):c.49A>T (p.Ser17Cys) single nucleotide variant Wilms tumor 1 [RCV001035017] ChrX:133985401 [GRCh38]
ChrX:133119428 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1514G>T (p.Cys505Phe) single nucleotide variant Wilms tumor 1 [RCV001037313] ChrX:133596499 [GRCh38]
ChrX:132730527 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.329T>C (p.Val110Ala) single nucleotide variant Wilms tumor 1 [RCV001037505] ChrX:133953058 [GRCh38]
ChrX:133087085 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1546G>A (p.Val516Met) single nucleotide variant Wilms tumor 1 [RCV001037896] ChrX:133596467 [GRCh38]
ChrX:132730495 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1537A>C (p.Met513Leu) single nucleotide variant Wilms tumor 1 [RCV001059159] ChrX:133596476 [GRCh38]
ChrX:132730504 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.78_86dup (p.Pro29_Pro31dup) duplication Wilms tumor 1 [RCV001035731] ChrX:133985363..133985364 [GRCh38]
ChrX:133119390..133119391 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.251C>T (p.Thr84Ile) single nucleotide variant Wilms tumor 1 [RCV001035853] ChrX:133953136 [GRCh38]
ChrX:133087163 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1414-3C>T single nucleotide variant Wilms tumor 1 [RCV001057486] ChrX:133596602 [GRCh38]
ChrX:132730630 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1033-4218A>G single nucleotide variant not provided [RCV000996020] ChrX:133704246 [GRCh38]
ChrX:132838274 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1562G>A (p.Arg521His) single nucleotide variant Wilms tumor 1 [RCV001060500] ChrX:133596451 [GRCh38]
ChrX:132730479 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.388T>A (p.Phe130Ile) single nucleotide variant Wilms tumor 1 [RCV001060518] ChrX:133754126 [GRCh38]
ChrX:132888153 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1619A>G (p.Gln540Arg) single nucleotide variant Wilms tumor 1 [RCV001034505] ChrX:133536248 [GRCh38]
ChrX:132670276 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.565G>C (p.Asp189His) single nucleotide variant Wilms tumor 1 [RCV001040026] ChrX:133753949 [GRCh38]
ChrX:132887976 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.265A>T (p.Met89Leu) single nucleotide variant Wilms tumor 1 [RCV001038626] ChrX:133953122 [GRCh38]
ChrX:133087149 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Infantile nystagmus, X-linked [RCV000767808] ChrX:130280298..132670366 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_004484.4(GPC3):c.531C>T (p.Val177=) single nucleotide variant not provided [RCV000878588] ChrX:133753983 [GRCh38]
ChrX:132888010 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1248G>A (p.Ala416=) single nucleotide variant not provided [RCV000875390] ChrX:133692413 [GRCh38]
ChrX:132826441 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.4(GPC3):c.747T>C (p.Ser249=) single nucleotide variant not provided [RCV000878407] ChrX:133753767 [GRCh38]
ChrX:132887794 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.924T>A (p.Asn308Lys) single nucleotide variant Wilms tumor 1 [RCV000875545] ChrX:133753590 [GRCh38]
ChrX:132887617 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.4(GPC3):c.1063C>T (p.Arg355Cys) single nucleotide variant Wilms tumor 1 [RCV000862136] ChrX:133699998 [GRCh38]
ChrX:132834026 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.4(GPC3):c.1605G>T (p.Ala535=) single nucleotide variant Wilms tumor 1 [RCV000977320] ChrX:133536262 [GRCh38]
ChrX:132670290 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.338-7_338-5del deletion not provided [RCV000866619] ChrX:133754181..133754183 [GRCh38]
ChrX:132888208..132888210 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.4(GPC3):c.1164A>G (p.Arg388=) single nucleotide variant not provided [RCV000978943] ChrX:133699897 [GRCh38]
ChrX:132833925 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1605G>A (p.Ala535=) single nucleotide variant Wilms tumor 1 [RCV000863133] ChrX:133536262 [GRCh38]
ChrX:132670290 [GRCh37]
ChrX:Xq26.2
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004484.3(GPC3):c.113T>A (p.Val38Asp) single nucleotide variant Wilms tumor 1 [RCV000822529] ChrX:133985337 [GRCh38]
ChrX:133119364 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.327G>A (p.Ala109=) single nucleotide variant Wilms tumor 1 [RCV000870292] ChrX:133953060 [GRCh38]
ChrX:133087087 [GRCh37]
ChrX:Xq26.2
benign|likely benign
NM_004484.4(GPC3):c.365C>T (p.Ala122Val) single nucleotide variant Wilms tumor 1 [RCV000870430] ChrX:133754149 [GRCh38]
ChrX:132888176 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.3(GPC3):c.565G>T (p.Asp189Tyr) single nucleotide variant Wilms tumor 1 [RCV000802836] ChrX:133753949 [GRCh38]
ChrX:132887976 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1078G>T (p.Ala360Ser) single nucleotide variant Wilms tumor 1 [RCV000819371] ChrX:133699983 [GRCh38]
ChrX:132834011 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.3(GPC3):c.1061A>G (p.Gln354Arg) single nucleotide variant Wilms tumor 1 [RCV000814784] ChrX:133700000 [GRCh38]
ChrX:132834028 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.397A>C (p.Asn133His) single nucleotide variant Wilms tumor 1 [RCV000798542] ChrX:133754117 [GRCh38]
ChrX:132888144 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1019A>G (p.Lys340Arg) single nucleotide variant Wilms tumor 1 [RCV000810599] ChrX:133753495 [GRCh38]
ChrX:132887522 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1729T>C (p.Phe577Leu) single nucleotide variant Wilms tumor 1 [RCV000814098] ChrX:133536138 [GRCh38]
ChrX:132670166 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.385A>T (p.Met129Leu) single nucleotide variant Wilms tumor 1 [RCV000816336] ChrX:133754129 [GRCh38]
ChrX:132888156 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.113T>C (p.Val38Ala) single nucleotide variant Wilms tumor 1 [RCV000819826] ChrX:133985337 [GRCh38]
ChrX:133119364 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.571G>A (p.Ala191Thr) single nucleotide variant Wilms tumor 1 [RCV000795054] ChrX:133753943 [GRCh38]
ChrX:132887970 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1594G>T (p.Val532Leu) single nucleotide variant Wilms tumor 1 [RCV000792085] ChrX:133536273 [GRCh38]
ChrX:132670301 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.126C>A (p.Phe42Leu) single nucleotide variant Wilms tumor 1 [RCV000815047] ChrX:133985324 [GRCh38]
ChrX:133119351 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.959T>C (p.Leu320Pro) single nucleotide variant Wilms tumor 1 [RCV000816841] ChrX:133753555 [GRCh38]
ChrX:132887582 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.693G>A (p.Gln231=) single nucleotide variant Wilms tumor 1 [RCV000820289] ChrX:133753821 [GRCh38]
ChrX:132887848 [GRCh37]
ChrX:Xq26.2
benign|uncertain significance
NM_004484.3(GPC3):c.92C>T (p.Pro31Leu) single nucleotide variant Wilms tumor 1 [RCV000820307] ChrX:133985358 [GRCh38]
ChrX:133119385 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1516A>G (p.Ile506Val) single nucleotide variant Wilms tumor 1 [RCV000793189] ChrX:133596497 [GRCh38]
ChrX:132730525 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.722A>G (p.Asn241Ser) single nucleotide variant Wilms tumor 1 [RCV000796025] ChrX:133753792 [GRCh38]
ChrX:132887819 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.513dup (p.Asp172Ter) duplication Wilms tumor 1 [RCV000823186] ChrX:133754000..133754001 [GRCh38]
ChrX:132888027..132888028 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.1166+3G>A single nucleotide variant Wilms tumor 1 [RCV000813489] ChrX:133699892 [GRCh38]
ChrX:132833920 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.100A>G (p.Thr34Ala) single nucleotide variant Wilms tumor 1 [RCV000797755] ChrX:133985350 [GRCh38]
ChrX:133119377 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.737_738delinsCT (p.Leu246Pro) indel Wilms tumor 1 [RCV000797999] ChrX:133753776..133753777 [GRCh38]
ChrX:132887803..132887804 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NC_000023.10:g.(?_133087067)_(133119486_?)dup duplication Wilms tumor 1 [RCV000796136] ChrX:133953040..133985459 [GRCh38]
ChrX:133087067..133119486 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.351T>G (p.Ile117Met) single nucleotide variant Wilms tumor 1 [RCV000793220] ChrX:133754163 [GRCh38]
ChrX:132888190 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.11:g.(?_133536124)_(133536303_?)dup duplication Wilms tumor 1 [RCV001031033] ChrX:132670152..132670331 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.80dup (p.Pro28fs) duplication Wilms tumor 1 [RCV000812314] ChrX:133985369..133985370 [GRCh38]
ChrX:133119396..133119397 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.3(GPC3):c.520C>G (p.Leu174Val) single nucleotide variant Wilms tumor 1 [RCV000794740] ChrX:133753994 [GRCh38]
ChrX:132888021 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001164617.2(GPC3):c.733C>A (p.His245Asn) single nucleotide variant Wilms tumor 1 [RCV000818304] ChrX:133753781 [GRCh38]
ChrX:132887808 [GRCh37]
ChrX:Xq26.2
conflicting interpretations of pathogenicity|uncertain significance
NM_004484.3(GPC3):c.977C>T (p.Thr326Ile) single nucleotide variant Wilms tumor 1 [RCV000812639] ChrX:133753537 [GRCh38]
ChrX:132887564 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.3(GPC3):c.1604C>G (p.Ala535Gly) single nucleotide variant Wilms tumor 1 [RCV000815495] ChrX:133536263 [GRCh38]
ChrX:132670291 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1033-8T>A single nucleotide variant Wilms tumor 1 [RCV000861184] ChrX:133700036 [GRCh38]
ChrX:132834064 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.3(GPC3):c.1718T>C (p.Val573Ala) single nucleotide variant Wilms tumor 1 [RCV000823846] ChrX:133536149 [GRCh38]
ChrX:132670177 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.505G>A (p.Glu169Lys) single nucleotide variant Wilms tumor 1 [RCV001068158] ChrX:133754009 [GRCh38]
ChrX:132888036 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.607C>T (p.Arg203Cys) single nucleotide variant Wilms tumor 1 [RCV001068417] ChrX:133753907 [GRCh38]
ChrX:132887934 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.850G>A (p.Gly284Ser) single nucleotide variant Wilms tumor 1 [RCV001064893] ChrX:133753664 [GRCh38]
ChrX:132887691 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1111A>C (p.Lys371Gln) single nucleotide variant Wilms tumor 1 [RCV001065561] ChrX:133699950 [GRCh38]
ChrX:132833978 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu) single nucleotide variant Wilms tumor 1 [RCV001066580] ChrX:133985310 [GRCh38]
ChrX:133119337 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1661A>G (p.Asn554Ser) single nucleotide variant Wilms tumor 1 [RCV001066629] ChrX:133536206 [GRCh38]
ChrX:132670234 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.839T>A (p.Val280Glu) single nucleotide variant Wilms tumor 1 [RCV001312521]|not provided [RCV001092159] ChrX:133753675 [GRCh38]
ChrX:132887702 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1663C>T (p.Leu555Phe) single nucleotide variant Wilms tumor 1 [RCV001068836] ChrX:133536204 [GRCh38]
ChrX:132670232 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.11:g.(?_133753472)_(133754186_?)del deletion Wilms tumor 1 [RCV001032714] ChrX:132887499..132888213 [GRCh37]
ChrX:Xq26.2
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_004484.4(GPC3):c.1149C>T (p.Thr383=) single nucleotide variant Wilms tumor 1 [RCV000870350] ChrX:133699912 [GRCh38]
ChrX:132833940 [GRCh37]
ChrX:Xq26.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_004484.4(GPC3):c.1702A>G (p.Met568Val) single nucleotide variant Wilms tumor 1 [RCV001045535] ChrX:133536165 [GRCh38]
ChrX:132670193 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.946A>G (p.Met316Val) single nucleotide variant Wilms tumor 1 [RCV001213229]|not provided [RCV001171647] ChrX:133753568 [GRCh38]
ChrX:132887595 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NC_000023.11:g.(?_133953040)_(133985449_?)dup duplication Wilms tumor 1 [RCV001032160] ChrX:133087067..133119476 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.880A>G (p.Lys294Glu) single nucleotide variant Wilms tumor 1 [RCV001204625] ChrX:133753634 [GRCh38]
ChrX:132887661 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_004484.4(GPC3):c.1429T>A (p.Ser477Thr) single nucleotide variant Wilms tumor 1 [RCV001209110] ChrX:133596584 [GRCh38]
ChrX:132730612 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.460_463dup (p.Tyr155fs) microsatellite Wilms tumor 1 [RCV001210467] ChrX:133754050..133754051 [GRCh38]
ChrX:132888077..132888078 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys) single nucleotide variant Wilms tumor 1 [RCV001208387] ChrX:133985335 [GRCh38]
ChrX:133119362 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1378A>C (p.Ser460Arg) single nucleotide variant Wilms tumor 1 [RCV001208388] ChrX:133661765 [GRCh38]
ChrX:132795793 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.612C>A (p.Asp204Glu) single nucleotide variant Wilms tumor 1 [RCV001202753] ChrX:133753902 [GRCh38]
ChrX:132887929 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.482T>C (p.Ile161Thr) single nucleotide variant Wilms tumor 1 [RCV001223922] ChrX:133754032 [GRCh38]
ChrX:132888059 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala) single nucleotide variant Wilms tumor 1 [RCV001209214] ChrX:133596559 [GRCh38]
ChrX:132730587 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1130A>T (p.His377Leu) single nucleotide variant Wilms tumor 1 [RCV001234756] ChrX:133699931 [GRCh38]
ChrX:132833959 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.755G>T (p.Cys252Phe) single nucleotide variant Wilms tumor 1 [RCV001209016] ChrX:133753759 [GRCh38]
ChrX:132887786 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1538T>A (p.Met513Lys) single nucleotide variant Wilms tumor 1 [RCV001224937] ChrX:133596475 [GRCh38]
ChrX:132730503 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1198A>T (p.Ser400Cys) single nucleotide variant Wilms tumor 1 [RCV001237658] ChrX:133692463 [GRCh38]
ChrX:132826491 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1582T>C (p.Tyr528His) single nucleotide variant Wilms tumor 1 [RCV001220861] ChrX:133536285 [GRCh38]
ChrX:132670313 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1739A>G (p.His580Arg) single nucleotide variant Wilms tumor 1 [RCV001227180] ChrX:133536128 [GRCh38]
ChrX:132670156 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.34G>T (p.Val12Leu) single nucleotide variant Wilms tumor 1 [RCV001221650] ChrX:133985416 [GRCh38]
ChrX:133119443 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.4(GPC3):c.273G>T (p.Gln91His) single nucleotide variant Wilms tumor 1 [RCV001243469] ChrX:133953114 [GRCh38]
ChrX:133087141 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.520C>A (p.Leu174Met) single nucleotide variant Wilms tumor 1 [RCV001226565] ChrX:133753994 [GRCh38]
ChrX:132888021 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) single nucleotide variant Inborn genetic diseases [RCV001265782]|Wilms tumor 1 [RCV001204028] ChrX:133953131 [GRCh38]
ChrX:133087158 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.4(GPC3):c.1269G>A (p.Trp423Ter) single nucleotide variant Wilms tumor 1 [RCV001211200] ChrX:133692392 [GRCh38]
ChrX:132826420 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.4(GPC3):c.169G>A (p.Val57Met) single nucleotide variant Wilms tumor 1 [RCV001212805] ChrX:133985281 [GRCh38]
ChrX:133119308 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1373T>C (p.Val458Ala) single nucleotide variant Wilms tumor 1 [RCV001229841] ChrX:133661770 [GRCh38]
ChrX:132795798 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.268G>A (p.Glu90Lys) single nucleotide variant Wilms tumor 1 [RCV001202126] ChrX:133953119 [GRCh38]
ChrX:133087146 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1027A>G (p.Thr343Ala) single nucleotide variant Wilms tumor 1 [RCV001232836] ChrX:133753487 [GRCh38]
ChrX:132887514 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.737T>C (p.Leu246Pro) single nucleotide variant Wilms tumor 1 [RCV001196652] ChrX:133753777 [GRCh38]
ChrX:132887804 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.90_91insACG (p.Pro31_Asp32insThr) insertion Wilms tumor 1 [RCV001242439] ChrX:133985359..133985360 [GRCh38]
ChrX:133119386..133119387 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_004484.4(GPC3):c.1033-9dup duplication Wilms tumor 1 [RCV000877426] ChrX:133700031..133700032 [GRCh38]
ChrX:132834059..132834060 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_004484.4(GPC3):c.1414-7C>T single nucleotide variant Wilms tumor 1 [RCV000863015] ChrX:133596606 [GRCh38]
ChrX:132730634 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.762A>G (p.Arg254=) single nucleotide variant Wilms tumor 1 [RCV000869424] ChrX:133753752 [GRCh38]
ChrX:132887779 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.415C>T (p.Pro139Ser) single nucleotide variant Wilms tumor 1 [RCV000862807] ChrX:133754099 [GRCh38]
ChrX:132888126 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.259T>C (p.Leu87=) single nucleotide variant Wilms tumor 1 [RCV000953890] ChrX:133953128 [GRCh38]
ChrX:133087155 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1698C>T (p.Thr566=) single nucleotide variant Wilms tumor 1 [RCV000939341] ChrX:133536169 [GRCh38]
ChrX:132670197 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.338-20dup duplication Wilms tumor 1 [RCV000860813] ChrX:133754180..133754181 [GRCh38]
ChrX:132888207..132888208 [GRCh37]
ChrX:Xq26.2
benign
NM_004484.4(GPC3):c.627G>A (p.Gly209=) single nucleotide variant not provided [RCV000877965] ChrX:133753887 [GRCh38]
ChrX:132887914 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1023G>A (p.Leu341=) single nucleotide variant not provided [RCV000927141] ChrX:133753491 [GRCh38]
ChrX:132887518 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1736T>G (p.Val579Gly) single nucleotide variant Wilms tumor 1 [RCV001225817] ChrX:133536131 [GRCh38]
ChrX:132670159 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.596G>A (p.Arg199Gln) single nucleotide variant Wilms tumor 1 [RCV001231215] ChrX:133753918 [GRCh38]
ChrX:132887945 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1286T>C (p.Val429Ala) single nucleotide variant Wilms tumor 1 [RCV001240593] ChrX:133692375 [GRCh38]
ChrX:132826403 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1636G>A (p.Asp546Asn) single nucleotide variant Wilms tumor 1 [RCV001047610] ChrX:133536231 [GRCh38]
ChrX:132670259 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_132838213)_(132888223_?)del deletion Wilms tumor 1 [RCV001031391] ChrX:132838213..132888223 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.4(GPC3):c.695C>T (p.Ala232Val) single nucleotide variant Wilms tumor 1 [RCV001227791] ChrX:133753819 [GRCh38]
ChrX:132887846 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1592A>T (p.Asp531Val) single nucleotide variant Wilms tumor 1 [RCV001070469] ChrX:133536275 [GRCh38]
ChrX:132670303 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.851G>C (p.Gly284Ala) single nucleotide variant Wilms tumor 1 [RCV001217986] ChrX:133753663 [GRCh38]
ChrX:132887690 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.154G>C (p.Val52Leu) single nucleotide variant Wilms tumor 1 [RCV001218083] ChrX:133985296 [GRCh38]
ChrX:133119323 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.497T>C (p.Met166Thr) single nucleotide variant Wilms tumor 1 [RCV001241577] ChrX:133754017 [GRCh38]
ChrX:132888044 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.72G>A (p.Ala24=) single nucleotide variant Wilms tumor 1 [RCV000933684] ChrX:133985378 [GRCh38]
ChrX:133119405 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.1305G>A (p.Lys435=) single nucleotide variant not provided [RCV000934865] ChrX:133661838 [GRCh38]
ChrX:132795866 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.120C>G (p.Ser40=) single nucleotide variant not provided [RCV000934979] ChrX:133985330 [GRCh38]
ChrX:133119357 [GRCh37]
ChrX:Xq26.2
likely benign
NM_004484.4(GPC3):c.271C>T (p.Gln91Ter) single nucleotide variant Wilms tumor 1 [RCV001211057] ChrX:133953116 [GRCh38]
ChrX:133087143 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.4(GPC3):c.1280A>G (p.Glu427Gly) single nucleotide variant Wilms tumor 1 [RCV001035373] ChrX:133692381 [GRCh38]
ChrX:132826409 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.682A>T (p.Ile228Phe) single nucleotide variant Wilms tumor 1 [RCV001045371] ChrX:133753832 [GRCh38]
ChrX:132887859 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_132670146)_(133119482_?)del deletion Wilms tumor 1 [RCV001031487] ChrX:132670146..133119482 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.4(GPC3):c.1714G>T (p.Val572Leu) single nucleotide variant Wilms tumor 1 [RCV001069759] ChrX:133536153 [GRCh38]
ChrX:132670181 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.890G>A (p.Arg297Lys) single nucleotide variant Wilms tumor 1 [RCV001070854] ChrX:133753624 [GRCh38]
ChrX:132887651 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1547T>C (p.Val516Ala) single nucleotide variant Wilms tumor 1 [RCV001046763] ChrX:133596466 [GRCh38]
ChrX:132730494 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.624T>A (p.Phe208Leu) single nucleotide variant Wilms tumor 1 [RCV001215676] ChrX:133753890 [GRCh38]
ChrX:132887917 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1158C>A (p.Ser386Arg) single nucleotide variant Wilms tumor 1 [RCV001203849] ChrX:133699903 [GRCh38]
ChrX:132833931 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1256A>G (p.Asp419Gly) single nucleotide variant Wilms tumor 1 [RCV001217718] ChrX:133692405 [GRCh38]
ChrX:132826433 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1672G>A (p.Val558Ile) single nucleotide variant Wilms tumor 1 [RCV001036715] ChrX:133536195 [GRCh38]
ChrX:132670223 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1285G>C (p.Val429Leu) single nucleotide variant Wilms tumor 1 [RCV001053678] ChrX:133692376 [GRCh38]
ChrX:132826404 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.63G>A (p.Pro21=) single nucleotide variant Wilms tumor 1 [RCV001057808] ChrX:133985387 [GRCh38]
ChrX:133119414 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.753C>A (p.Asp251Glu) single nucleotide variant Wilms tumor 1 [RCV001236990] ChrX:133753761 [GRCh38]
ChrX:132887788 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.602C>T (p.Ala201Val) single nucleotide variant Wilms tumor 1 [RCV001053722] ChrX:133753912 [GRCh38]
ChrX:132887939 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV001294010]|Wilms tumor 1 [RCV001054003] ChrX:133753717 [GRCh38]
ChrX:132887744 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.4(GPC3):c.1292+2T>A single nucleotide variant Wilms tumor 1 [RCV001054387] ChrX:133692367 [GRCh38]
ChrX:132826395 [GRCh37]
ChrX:Xq26.2
likely pathogenic
NM_004484.4(GPC3):c.368A>G (p.Lys123Arg) single nucleotide variant Wilms tumor 1 [RCV001235140] ChrX:133754146 [GRCh38]
ChrX:132888173 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1649G>C (p.Ser550Thr) single nucleotide variant Wilms tumor 1 [RCV001235597] ChrX:133536218 [GRCh38]
ChrX:132670246 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.421G>T (p.Ala141Ser) single nucleotide variant Wilms tumor 1 [RCV001230626] ChrX:133754093 [GRCh38]
ChrX:132888120 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1642G>A (p.Glu548Lys) single nucleotide variant Wilms tumor 1 [RCV001233936] ChrX:133536225 [GRCh38]
ChrX:132670253 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1032+5G>A single nucleotide variant Wilms tumor 1 [RCV001208160] ChrX:133753477 [GRCh38]
ChrX:132887504 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.611A>G (p.Asp204Gly) single nucleotide variant Wilms tumor 1 [RCV001048455] ChrX:133753903 [GRCh38]
ChrX:132887930 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1004A>C (p.Gln335Pro) single nucleotide variant Wilms tumor 1 [RCV001232941] ChrX:133753510 [GRCh38]
ChrX:132887537 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.236A>G (p.Glu79Gly) single nucleotide variant Wilms tumor 1 [RCV001219646] ChrX:133953151 [GRCh38]
ChrX:133087178 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1573+8A>G single nucleotide variant Wilms tumor 1 [RCV001055566] ChrX:133596432 [GRCh38]
ChrX:132730460 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.98C>T (p.Ala33Val) single nucleotide variant Wilms tumor 1 [RCV001059671] ChrX:133985352 [GRCh38]
ChrX:133119379 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1313G>A (p.Arg438Lys) single nucleotide variant Wilms tumor 1 [RCV001064104] ChrX:133661830 [GRCh38]
ChrX:132795858 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.43C>A (p.Leu15Met) single nucleotide variant Wilms tumor 1 [RCV001223198]|not provided [RCV001200549] ChrX:133985407 [GRCh38]
ChrX:133119434 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1696A>G (p.Thr566Ala) single nucleotide variant Wilms tumor 1 [RCV001064626] ChrX:133536171 [GRCh38]
ChrX:132670199 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1190C>T (p.Ser397Phe) single nucleotide variant Wilms tumor 1 [RCV001040788] ChrX:133692471 [GRCh38]
ChrX:132826499 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1178A>C (p.Gln393Pro) single nucleotide variant Wilms tumor 1 [RCV001036985] ChrX:133692483 [GRCh38]
ChrX:132826511 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.4(GPC3):c.1045T>C (p.Cys349Arg) single nucleotide variant Wilms tumor 1 [RCV001232458] ChrX:133700016 [GRCh38]
ChrX:132834044 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.517A>G (p.Ser173Gly) single nucleotide variant Wilms tumor 1 [RCV001062514] ChrX:133753997 [GRCh38]
ChrX:132888024 [GRCh37]
ChrX:Xq26.2
likely benign|uncertain significance
NM_004484.4(GPC3):c.1031C>T (p.Thr344Ile) single nucleotide variant Wilms tumor 1 [RCV001038240] ChrX:133753483 [GRCh38]
ChrX:132887510 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1553A>T (p.Asn518Ile) single nucleotide variant Wilms tumor 1 [RCV001232606] ChrX:133596460 [GRCh38]
ChrX:132730488 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.500T>C (p.Val167Ala) single nucleotide variant Wilms tumor 1 [RCV001063196] ChrX:133754014 [GRCh38]
ChrX:132888041 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.881A>G (p.Lys294Arg) single nucleotide variant Intellectual disability [RCV001260621] ChrX:133753633 [GRCh38]
ChrX:132887660 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:132268495-134235471)x2 copy number gain not provided [RCV001260046] ChrX:132268495..134235471 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
NM_004484.4(GPC3):c.1328del (p.Asn443fs) deletion not provided [RCV001269542] ChrX:133661815 [GRCh38]
ChrX:132795843 [GRCh37]
ChrX:Xq26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_004484.4(GPC3):c.1158C>G (p.Ser386Arg) single nucleotide variant Wilms tumor 1 [RCV001305308] ChrX:133699903 [GRCh38]
ChrX:132833931 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.61C>A (p.Pro21Thr) single nucleotide variant Wilms tumor 1 [RCV001317090] ChrX:133985389 [GRCh38]
ChrX:133119416 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.565G>A (p.Asp189Asn) single nucleotide variant Wilms tumor 1 [RCV001316179] ChrX:133753949 [GRCh38]
ChrX:132887976 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.452A>G (p.Asp151Gly) single nucleotide variant Wilms tumor 1 [RCV001308411] ChrX:133754062 [GRCh38]
ChrX:132888089 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.341C>A (p.Ala114Asp) single nucleotide variant Wilms tumor 1 [RCV001327596] ChrX:133754173 [GRCh38]
ChrX:132888200 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_132670152)_(132670331_?)dup duplication Wilms tumor 1 [RCV001308820] ChrX:132670152..132670331 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1600G>A (p.Asp534Asn) single nucleotide variant Wilms tumor 1 [RCV001320856] ChrX:133536267 [GRCh38]
ChrX:132670295 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq26.2(chrX:132717085-132924462) copy number loss Global developmental delay [RCV001291961] ChrX:132717085..132924462 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_004484.4(GPC3):c.1315A>G (p.Asn439Asp) single nucleotide variant Wilms tumor 1 [RCV001317398] ChrX:133661828 [GRCh38]
ChrX:132795856 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.576G>C (p.Leu192Phe) single nucleotide variant Wilms tumor 1 [RCV001342976] ChrX:133753938 [GRCh38]
ChrX:132887965 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.865G>A (p.Val289Met) single nucleotide variant Wilms tumor 1 [RCV001299874] ChrX:133753649 [GRCh38]
ChrX:132887676 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.301A>C (p.Lys101Gln) single nucleotide variant Wilms tumor 1 [RCV001312255] ChrX:133953086 [GRCh38]
ChrX:133087113 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.19A>C (p.Thr7Pro) single nucleotide variant Wilms tumor 1 [RCV001313285] ChrX:133985431 [GRCh38]
ChrX:133119458 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.869T>C (p.Val290Ala) single nucleotide variant Wilms tumor 1 [RCV001351537] ChrX:133753645 [GRCh38]
ChrX:132887672 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.62C>G (p.Pro21Arg) single nucleotide variant not provided [RCV001288620] ChrX:133985388 [GRCh38]
ChrX:133119415 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.502A>G (p.Asn168Asp) single nucleotide variant Wilms tumor 1 [RCV001305912] ChrX:133754012 [GRCh38]
ChrX:132888039 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.958C>G (p.Leu320Val) single nucleotide variant Wilms tumor 1 [RCV001294890] ChrX:133753556 [GRCh38]
ChrX:132887583 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.518G>A (p.Ser173Asn) single nucleotide variant Wilms tumor 1 [RCV001346337] ChrX:133753996 [GRCh38]
ChrX:132888023 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.79CCG[3] (p.Pro30_Pro31del) microsatellite Wilms tumor 1 [RCV001319918] ChrX:133985357..133985362 [GRCh38]
ChrX:133119384..133119389 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.293T>C (p.Met98Thr) single nucleotide variant Wilms tumor 1 [RCV001346483] ChrX:133953094 [GRCh38]
ChrX:133087121 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.421G>A (p.Ala141Thr) single nucleotide variant Wilms tumor 1 [RCV001312504] ChrX:133754093 [GRCh38]
ChrX:132888120 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1424C>T (p.Thr475Ile) single nucleotide variant Wilms tumor 1 [RCV001312699] ChrX:133596589 [GRCh38]
ChrX:132730617 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.-1G>C single nucleotide variant Simpson-Golabi-Behmel syndrome type 1 [RCV001329904] ChrX:133985450 [GRCh38]
ChrX:133119477 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.290G>C (p.Ser97Thr) single nucleotide variant Wilms tumor 1 [RCV001316542] ChrX:133953097 [GRCh38]
ChrX:133087124 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1205A>G (p.Tyr402Cys) single nucleotide variant Wilms tumor 1 [RCV001323058] ChrX:133692456 [GRCh38]
ChrX:132826484 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_133087067)_(133119476_?)dup duplication Wilms tumor 1 [RCV001323164] ChrX:133087067..133119476 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_132670146)_(133119482_?)dup duplication Wilms tumor 1 [RCV001338969] ChrX:132670146..133119482 [GRCh37]
ChrX:Xq26.2
uncertain significance
NC_000023.10:g.(?_132670152)_(132888213_?)dup duplication Wilms tumor 1 [RCV001338971] ChrX:132670152..132888213 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.967C>T (p.Leu323Phe) single nucleotide variant Wilms tumor 1 [RCV001323270] ChrX:133753547 [GRCh38]
ChrX:132887574 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.833G>A (p.Cys278Tyr) single nucleotide variant Wilms tumor 1 [RCV001345168] ChrX:133753681 [GRCh38]
ChrX:132887708 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr) single nucleotide variant Wilms tumor 1 [RCV001296342] ChrX:133700010 [GRCh38]
ChrX:132834038 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1405A>G (p.Ile469Val) single nucleotide variant Wilms tumor 1 [RCV001322431] ChrX:133661738 [GRCh38]
ChrX:132795766 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1669A>T (p.Asn557Tyr) single nucleotide variant Wilms tumor 1 [RCV001322501] ChrX:133536198 [GRCh38]
ChrX:132670226 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1610G>C (p.Gly537Ala) single nucleotide variant Wilms tumor 1 [RCV001319502] ChrX:133536257 [GRCh38]
ChrX:132670285 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1723TTC[2] (p.Phe577del) microsatellite Wilms tumor 1 [RCV001316337] ChrX:133536136..133536138 [GRCh38]
ChrX:132670164..132670166 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro) single nucleotide variant Wilms tumor 1 [RCV001343172] ChrX:133985332 [GRCh38]
ChrX:133119359 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1292+6C>T single nucleotide variant Wilms tumor 1 [RCV001315291] ChrX:133692363 [GRCh38]
ChrX:132826391 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.337+5G>A single nucleotide variant Wilms tumor 1 [RCV001321367] ChrX:133953045 [GRCh38]
ChrX:133087072 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.907C>G (p.Leu303Val) single nucleotide variant Wilms tumor 1 [RCV001337648] ChrX:133753607 [GRCh38]
ChrX:132887634 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.75G>T (p.Gln25His) single nucleotide variant Wilms tumor 1 [RCV001315584] ChrX:133985375 [GRCh38]
ChrX:133119402 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1413+5G>A single nucleotide variant Wilms tumor 1 [RCV001314288] ChrX:133661725 [GRCh38]
ChrX:132795753 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1323G>A (p.Met441Ile) single nucleotide variant Wilms tumor 1 [RCV001316449] ChrX:133661820 [GRCh38]
ChrX:132795848 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1711T>C (p.Ser571Pro) single nucleotide variant Wilms tumor 1 [RCV001338180] ChrX:133536156 [GRCh38]
ChrX:132670184 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1495G>A (p.Gly499Ser) single nucleotide variant Wilms tumor 1 [RCV001340986] ChrX:133596518 [GRCh38]
ChrX:132730546 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_004484.4(GPC3):c.1604C>T (p.Ala535Val) single nucleotide variant Wilms tumor 1 [RCV001325684] ChrX:133536263 [GRCh38]
ChrX:132670291 [GRCh37]
ChrX:Xq26.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4451 AgrOrtholog
COSMIC GPC3 COSMIC
Ensembl Genes ENSG00000147257 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359854 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377836 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385307 UniProtKB/TrEMBL
  ENSP00000486325 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370818 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394299 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406757 UniProtKB/TrEMBL
  ENST00000631057 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147257 GTEx
HGNC ID HGNC:4451 ENTREZGENE
Human Proteome Map GPC3 Human Proteome Map
InterPro Glypican UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glypican-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glypican_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2719 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2719 ENTREZGENE
OMIM 194070 OMIM
  300037 OMIM
  312870 OMIM
PANTHER PTHR10822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10822:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glypican UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28832 PharmGKB
PROSITE GLYPICAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1S5UZ08_HUMAN UniProtKB/TrEMBL
  B4DTD8 ENTREZGENE, UniProtKB/TrEMBL
  GPC3_HUMAN UniProtKB/Swiss-Prot
  H0Y3U6_HUMAN UniProtKB/TrEMBL
  I6QTG3 ENTREZGENE, UniProtKB/TrEMBL
  P51654 ENTREZGENE
  Q53H15 ENTREZGENE, UniProtKB/TrEMBL