GPC4 (glypican 4) - Rat Genome Database

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Gene: GPC4 (glypican 4) Homo sapiens
Analyze
Symbol: GPC4
Name: glypican 4
RGD ID: 1347282
HGNC Page HGNC
Description: Involved in Wnt signaling pathway. Localizes to external side of plasma membrane. Implicated in Keipert syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dJ900E8.1 (glypican 4); glypican proteoglycan 4; glypican-4; K-glypican; KPTS
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 EnsemblX133,300,103 - 133,415,489 (-)EnsemblGRCh38hg38GRCh38
GRCh38X133,300,103 - 133,415,489 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X132,434,131 - 132,549,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X132,262,730 - 132,376,871 (-)NCBINCBI36hg18NCBI36
Build 34X132,160,583 - 132,274,725NCBI
CeleraX132,821,529 - 132,935,634 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX121,838,234 - 121,950,367 (-)NCBIHuRef
CHM1_1X132,346,513 - 132,460,631 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
okadaic acid  (ISO)
panobinostat  (EXP)
paracetamol  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
Salinomycin  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

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

Human Phenotype
2-3 finger syndactyly  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the helix  (IAGP)
Abnormality of the pinna  (IAGP)
Abnormality of the ribs  (IAGP)
Absent toenail  (IAGP)
Accelerated skeletal maturation  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Aplasia/Hypoplasia of the distal phalanges of the toes  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Arrhythmia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Birth length greater than 97th percentile  (IAGP)
Brachydactyly  (IAGP)
Broad distal phalanx of finger  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad hallux phalanx  (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  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (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)
Distal shortening of limbs  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Duplication of renal pelvis  (IAGP)
Enlarged kidney  (IAGP)
Epicanthus  (IAGP)
Exaggerated cupid's bow  (IAGP)
Finger syndactyly  (IAGP)
Flared iliac wings  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatoblastoma  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
High, narrow palate  (IAGP)
Hoarse voice  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypertelorism  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased circulating IgE level  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Midface retrusion  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Nail dysplasia  (IAGP)
Narrow greater sciatic notch  (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)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nose  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Renal cyst  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 2nd finger  (IAGP)
Short distal phalanx of finger  (IAGP)
Short foot  (IAGP)
Short greater sciatic notch  (IAGP)
Short hallux  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short stature  (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)
Tented upper lip vermilion  (IAGP)
Thick upper lip vermilion  (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)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7657705   PMID:7925270   PMID:9787072   PMID:9931407   PMID:10585884   PMID:10814714   PMID:11066092   PMID:11336704   PMID:12009023   PMID:12477932   PMID:12975309   PMID:15489334  
PMID:15772651   PMID:19199708   PMID:19884766   PMID:20301398   PMID:20301471   PMID:20301534   PMID:20562859   PMID:21516116   PMID:21565611   PMID:21630459   PMID:21873635   PMID:22644326  
PMID:22761013   PMID:23376485   PMID:23455922   PMID:23633195   PMID:23667531   PMID:23824909   PMID:24431302   PMID:25544563   PMID:25624497   PMID:25665578   PMID:26186194   PMID:26344197  
PMID:26486309   PMID:26561776   PMID:26638075   PMID:26972000   PMID:27071854   PMID:27425250   PMID:27609421   PMID:28077445   PMID:28514442   PMID:29276006   PMID:29845934   PMID:30982611  
PMID:31073040   PMID:31217057   PMID:31484922   PMID:31501420   PMID:31522169   PMID:31980649   PMID:32199612   PMID:32296183   PMID:32352694  


Genomics

Comparative Map Data
GPC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX133,300,103 - 133,415,489 (-)EnsemblGRCh38hg38GRCh38
GRCh38X133,300,103 - 133,415,489 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X132,434,131 - 132,549,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X132,262,730 - 132,376,871 (-)NCBINCBI36hg18NCBI36
Build 34X132,160,583 - 132,274,725NCBI
CeleraX132,821,529 - 132,935,634 (-)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX121,838,234 - 121,950,367 (-)NCBIHuRef
CHM1_1X132,346,513 - 132,460,631 (-)NCBICHM1_1
Gpc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X51,139,884 - 51,253,800 (-)NCBIGRCm39mm39
GRCm39 EnsemblX51,141,898 - 51,254,129 (-)Ensembl
GRCm38X52,051,007 - 52,164,923 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX52,053,021 - 52,165,252 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X49,406,195 - 49,518,100 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X48,297,547 - 48,409,879 (-)NCBImm8
CeleraX39,465,872 - 39,577,854 (-)NCBICelera
Cytogenetic MapXA5NCBI
cM MapX28.33NCBI
Gpc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X131,644,711 - 131,755,349 (-)NCBI
Rnor_6.0 EnsemblX139,354,155 - 139,464,798 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X139,354,325 - 139,464,876 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X139,402,208 - 139,512,761 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X138,966,579 - 139,077,074 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X139,040,011 - 139,150,507 (-)NCBI
CeleraX130,559,646 - 130,670,213 (-)NCBICelera
Cytogenetic MapXq36NCBI
Gpc4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554731,546,326 - 1,655,822 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554731,546,615 - 1,655,822 (+)NCBIChiLan1.0ChiLan1.0
GPC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X132,746,525 - 132,860,422 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX132,746,519 - 132,860,420 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X122,441,290 - 122,555,192 (-)NCBIMhudiblu_PPA_v0panPan3
GPC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X104,098,316 - 104,215,883 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX104,100,571 - 104,216,103 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX90,208,572 - 90,326,089 (-)NCBI
ROS_Cfam_1.0X105,957,616 - 106,075,266 (-)NCBI
UMICH_Zoey_3.1X103,371,062 - 103,488,678 (-)NCBI
UNSW_CanFamBas_1.0X105,240,314 - 105,354,255 (-)NCBI
UU_Cfam_GSD_1.0X105,019,896 - 105,137,230 (-)NCBI
Gpc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X102,280,494 - 102,392,469 (-)NCBI
SpeTri2.0NW_0049366911,564,872 - 1,676,378 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX109,306,368 - 109,421,785 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X109,306,489 - 109,421,947 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X125,341,052 - 125,453,788 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPC4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X108,451,082 - 108,570,244 (-)NCBI
ChlSab1.1 EnsemblX108,450,536 - 108,570,214 (-)Ensembl
Gpc4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479713,005,310 - 13,116,414 (-)NCBI

Position Markers
AL023956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,453,528 - 132,453,649UniSTSGRCh37
Build 36X132,281,194 - 132,281,315RGDNCBI36
CeleraX132,839,993 - 132,840,114RGD
Cytogenetic MapXq26.1UniSTS
HuRefX121,856,644 - 121,856,765UniSTS
WI-16817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,481,305 - 132,481,454UniSTSGRCh37
Build 36X132,308,971 - 132,309,120RGDNCBI36
CeleraX132,867,734 - 132,867,883RGD
Cytogenetic MapXq26.1UniSTS
HuRefX121,884,555 - 121,884,700UniSTS
GeneMap99-GB4 RH MapX314.63UniSTS
Whitehead-RH MapX290.2UniSTS
NCBI RH MapX669.7UniSTS
AL032551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,436,356 - 132,436,518UniSTSGRCh37
Build 36X132,264,022 - 132,264,184RGDNCBI36
CeleraX132,822,821 - 132,822,983RGD
Cytogenetic MapXq26.1UniSTS
HuRefX121,839,526 - 121,839,688UniSTS
AL032600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,465,242 - 132,465,367UniSTSGRCh37
Build 36X132,292,908 - 132,293,033RGDNCBI36
CeleraX132,851,705 - 132,851,830RGD
Cytogenetic MapXq26.1UniSTS
HuRefX121,868,702 - 121,868,827UniSTS
SHGC-83545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,443,084 - 132,443,380UniSTSGRCh37
Build 36X132,270,750 - 132,271,046RGDNCBI36
CeleraX132,829,549 - 132,829,845RGD
Cytogenetic MapXq26.1UniSTS
HuRefX121,846,200 - 121,846,496UniSTS
TNG Radiation Hybrid MapX27396.0UniSTS
GPC4__7535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,434,874 - 132,435,757UniSTSGRCh37
Build 36X132,262,540 - 132,263,423RGDNCBI36
CeleraX132,821,339 - 132,822,222RGD
HuRefX121,838,044 - 121,838,927UniSTS
AF020112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,485,849 - 132,486,089UniSTSGRCh37
Build 36X132,313,515 - 132,313,755RGDNCBI36
CeleraX132,872,278 - 132,872,518RGD
Cytogenetic MapXq26.1UniSTS
HuRefX121,889,418 - 121,889,658UniSTS
STS-D45526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X132,435,155 - 132,435,330UniSTSGRCh37
Build 36X132,262,821 - 132,262,996RGDNCBI36
CeleraX132,821,620 - 132,821,795RGD
Cytogenetic MapXq26.1UniSTS
HuRefX121,838,325 - 121,838,500UniSTS
GeneMap99-GB4 RH MapX315.91UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2688
Count of miRNA genes:1111
Interacting mature miRNAs:1392
Transcripts:ENST00000370828, ENST00000535467
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 pharyngeal arch
High 1 8 1
Medium 2094 1434 971 124 305 43 2482 1215 1041 298 927 1301 85 919 1651 3
Low 323 802 645 401 651 322 1855 957 2633 112 507 252 84 1 285 1137 3 2
Below cutoff 12 722 96 93 799 93 6 16 42 6 10 26 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000370828   ⟹   ENSP00000359864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX133,300,103 - 133,415,489 (-)Ensembl
RefSeq Acc Id: NM_001448   ⟹   NP_001439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,300,103 - 133,415,489 (-)NCBI
GRCh37X132,433,815 - 132,549,205 (-)NCBI
Build 36X132,262,730 - 132,376,871 (-)NCBI Archive
CeleraX132,821,529 - 132,935,634 (-)RGD
HuRefX121,838,234 - 121,950,367 (-)RGD
CHM1_1X132,346,513 - 132,460,631 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001439   ⟸   NM_001448
- Peptide Label: precursor
- UniProtKB: O75487 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359864   ⟸   ENST00000370828

Promoters
RGD ID:6808884
Promoter ID:HG_KWN:68094
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000058338
Position:
Human AssemblyChrPosition (strand)Source
Build 36X132,377,001 - 132,377,501 (-)MPROMDB
RGD ID:13628132
Promoter ID:EPDNEW_H29341
Type:initiation region
Name:GPC4_1
Description:glypican 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X133,415,489 - 133,415,549EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 Xq26.2(chrX:132776918-133371859)x3 copy number gain See cases [RCV000050941] ChrX:132776918..133371859 [GRCh38]
ChrX:131910946..132505887 [GRCh37]
ChrX:131738627..132333553 [NCBI36]
ChrX:Xq26.2
uncertain significance
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 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 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_001448.3(GPC4):c.1486G>T (p.Glu496Ter) single nucleotide variant Keipert syndrome [RCV000659266] ChrX:133303052 [GRCh38]
ChrX:132437080 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_001448.3(GPC4):c.701dup (p.Val235fs) duplication Keipert syndrome [RCV000659265] ChrX:133324154..133324155 [GRCh38]
ChrX:132458182..132458183 [GRCh37]
ChrX:Xq26.2
pathogenic
NM_001448.3(GPC4):c.316del (p.Asp106fs) deletion Keipert syndrome [RCV000659267] ChrX:133339186 [GRCh38]
ChrX:132473214 [GRCh37]
ChrX:Xq26.2
pathogenic
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
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
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: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)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: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 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 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: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
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 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 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 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 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 Xq26.2(chrX:133175259-133355867)x2 copy number gain See cases [RCV000141644] ChrX:133175259..133355867 [GRCh38]
ChrX:132309287..132489895 [GRCh37]
ChrX:132136953..132317561 [NCBI36]
ChrX:Xq26.2
uncertain significance
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 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 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 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
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
GRCh37/hg19 Xq26.2(chrX:131885089-132500236)x2 copy number gain See cases [RCV000203429] ChrX:131885089..132500236 [GRCh37]
ChrX:Xq26.2
uncertain significance
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_001448.3(GPC4):c.1516C>T (p.Gln506Ter) single nucleotide variant Keipert syndrome [RCV000659264] ChrX:133303022 [GRCh38]
ChrX:132437050 [GRCh37]
ChrX:Xq26.2
pathogenic
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
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
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
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 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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
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 Xq26.2(chrX:131859871-132462828)x2 copy number gain See cases [RCV000447815] ChrX:131859871..132462828 [GRCh37]
ChrX:Xq26.2
uncertain significance
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
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 Xq26.2(chrX:131864764-132527601)x3 copy number gain See cases [RCV000511557] ChrX:131864764..132527601 [GRCh37]
ChrX:Xq26.2
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_001448.3(GPC4):c.1235G>A (p.Arg412Lys) single nucleotide variant Distal shortening of limbs [RCV000577885] ChrX:133304782 [GRCh38]
ChrX:132438810 [GRCh37]
ChrX:Xq26.2
likely pathogenic
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 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 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001448.3(GPC4):c.1463A>G (p.Asp488Gly) single nucleotide variant Inborn genetic diseases [RCV000622575] ChrX:133303171 [GRCh38]
ChrX:132437199 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
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 Xq26.2(chrX:131874401-132523914)x3 copy number gain not provided [RCV000684392] ChrX:131874401..132523914 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
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_001448.3(GPC4):c.1518_1521dup (p.Pro508fs) duplication Keipert syndrome [RCV000768696] ChrX:133303016..133303017 [GRCh38]
ChrX:132437044..132437045 [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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
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
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
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 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
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_001448.3(GPC4):c.1469-16dup duplication not provided [RCV000882582] ChrX:133303076..133303077 [GRCh38]
ChrX:132437104..132437105 [GRCh37]
ChrX:Xq26.2
benign
NM_001448.3(GPC4):c.1469-5A>G single nucleotide variant not provided [RCV000996019] ChrX:133303074 [GRCh38]
ChrX:132437102 [GRCh37]
ChrX:Xq26.2
uncertain significance
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 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001448.3(GPC4):c.1581C>T (p.Ala527=) single nucleotide variant not provided [RCV000919509] ChrX:133302957 [GRCh38]
ChrX:132436985 [GRCh37]
ChrX:Xq26.2
likely benign
NM_001448.3(GPC4):c.324C>T (p.Phe108=) single nucleotide variant not provided [RCV000895548] ChrX:133324532 [GRCh38]
ChrX:132458560 [GRCh37]
ChrX:Xq26.2
likely benign
NM_001448.3(GPC4):c.742del (p.Leu248fs) deletion Keipert syndrome [RCV000768697] ChrX:133311393 [GRCh38]
ChrX:132445421 [GRCh37]
ChrX:Xq26.2
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq26.2(chrX:131860401-132462829)x3 copy number gain not provided [RCV000848738] ChrX:131860401..132462829 [GRCh37]
ChrX:Xq26.2
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
GRCh37/hg19 Xq26.2(chrX:131864764-132517869)x2 copy number gain not provided [RCV000846334] ChrX:131864764..132517869 [GRCh37]
ChrX:Xq26.2
uncertain significance
GRCh37/hg19 Xq26.2(chrX:132473601-132576139)x2 copy number gain not provided [RCV000845643] ChrX:132473601..132576139 [GRCh37]
ChrX:Xq26.2
uncertain significance
NM_001448.3(GPC4):c.320-8G>T single nucleotide variant not provided [RCV000959312] ChrX:133324544 [GRCh38]
ChrX:132458572 [GRCh37]
ChrX:Xq26.2
likely 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
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001448.3(GPC4):c.1116A>G (p.Glu372=) single nucleotide variant not provided [RCV000931272] ChrX:133305811 [GRCh38]
ChrX:132439839 [GRCh37]
ChrX:Xq26.2
likely benign
NM_001448.3(GPC4):c.1469-4C>T single nucleotide variant not provided [RCV000931427] ChrX:133303073 [GRCh38]
ChrX:132437101 [GRCh37]
ChrX:Xq26.2
likely benign
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely 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
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001448.3(GPC4):c.650C>T (p.Ala217Val) single nucleotide variant Keipert syndrome [RCV001331934] ChrX:133324206 [GRCh38]
ChrX:132458234 [GRCh37]
ChrX:Xq26.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4452 AgrOrtholog
COSMIC GPC4 COSMIC
Ensembl Genes ENSG00000076716 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000359864 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370828 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000076716 GTEx
HGNC ID HGNC:4452 ENTREZGENE
Human Proteome Map GPC4 Human Proteome Map
InterPro Glypican UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glypican-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glypican_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2239 UniProtKB/Swiss-Prot
NCBI Gene 2239 ENTREZGENE
OMIM 300168 OMIM
  301026 OMIM
PANTHER PTHR10822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10822:SF25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glypican UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28833 PharmGKB
PROSITE GLYPICAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt GPC4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86SV6_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R6J7 UniProtKB/Swiss-Prot
  B4E2C0 UniProtKB/Swiss-Prot
  Q6ZMA6 UniProtKB/Swiss-Prot
  Q96L43 UniProtKB/Swiss-Prot
  Q9NU08 UniProtKB/Swiss-Prot
  Q9UJN1 UniProtKB/Swiss-Prot
  Q9UPD9 UniProtKB/Swiss-Prot