NDP (norrin cystine knot growth factor NDP) - Rat Genome Database

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Gene: NDP (norrin cystine knot growth factor NDP) Homo sapiens
Analyze
Symbol: NDP
Name: norrin cystine knot growth factor NDP
RGD ID: 1343189
HGNC Page HGNC
Description: Exhibits cytokine activity; frizzled binding activity; and protein homodimerization activity. Involved in Norrin signaling pathway and positive regulation of transcription, DNA-templated. Localizes to cell surface; collagen-containing extracellular matrix; and extracellular space. Implicated in Norrie disease; X-linked exudative vitreoretinopathy 2; and retinopathy of prematurity.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EVR2; exudative vitreoretinopathy 2 (X-linked); FEVR; ND; NDP, norrin cystine knot growth factor; Norrie disease (pseudoglioma); norrie disease protein; norrin; X-linked exudative vitreoretinopathy 2 protein
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 EnsemblX43,948,776 - 43,973,395 (-)EnsemblGRCh38hg38GRCh38
GRCh38X43,948,776 - 43,973,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X43,808,022 - 43,832,636 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X43,692,966 - 43,717,788 (-)NCBINCBI36hg18NCBI36
Build 34X43,564,279 - 43,589,004NCBI
CeleraX47,947,782 - 47,972,683 (-)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX41,537,322 - 41,562,014 (-)NCBIHuRef
CHM1_1X43,841,148 - 43,866,049 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal anterior chamber morphology  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal cochlea morphology  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of the diencephalon  (IAGP)
Abnormality of the helix  (IAGP)
Aggressive behavior  (IAGP)
Anterior chamber synechiae  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the lens  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Blindness  (IAGP)
Cachexia  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clonus  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed puberty  (IAGP)
Dementia  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Ectopia lentis  (IAGP)
EEG abnormality  (IAGP)
Erectile dysfunction  (IAGP)
Exudative retinopathy  (IAGP)
Exudative vitreoretinopathy  (IAGP)
Failure to thrive  (IAGP)
Falciform retinal fold  (IAGP)
Glaucoma  (IAGP)
Hallucinations  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability, progressive  (IAGP)
Intraretinal exudate  (IAGP)
Irritability  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Migraine  (IAGP)
Muscle weakness  (IAGP)
Narrow nasal bridge  (IAGP)
Neoplasm of the eye  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Peripheral vitreous opacities  (IAGP)
Premature birth  (IAGP)
Protruding ear  (IAGP)
Psychosis  (IAGP)
Reduced visual acuity  (IAGP)
Remnants of the hyaloid vascular system  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal fold  (IAGP)
Retinal hole  (IAGP)
Retinal neovascularization  (IAGP)
Retinal vascular tortuosity  (IAGP)
Retinopathy  (IAGP)
Schizophrenia  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shallow anterior chamber  (IAGP)
Sleep disturbance  (IAGP)
Small for gestational age  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Subretinal exudate  (IAGP)
Thin vermilion border  (IAGP)
Tractional retinal detachment  (IAGP)
Uterine rupture  (IAGP)
Vascular neoplasm  (IAGP)
Venous insufficiency  (IAGP)
Vitreous hemorrhage  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1301161   PMID:1303236   PMID:1303256   PMID:1303264   PMID:1307245   PMID:7558002   PMID:7627181   PMID:7795608   PMID:7835440   PMID:7993212   PMID:8069314   PMID:8240113  
PMID:8268931   PMID:8298646   PMID:8589700   PMID:8790105   PMID:8946107   PMID:8990009   PMID:9143917   PMID:9143918   PMID:9382152   PMID:9407136   PMID:10484772   PMID:11076863  
PMID:11285060   PMID:11322656   PMID:11337749   PMID:11748312   PMID:12145535   PMID:12477932   PMID:12546446   PMID:15035989   PMID:15489334   PMID:15489336   PMID:15609522   PMID:15799735  
PMID:16052165   PMID:16344560   PMID:16381901   PMID:16714476   PMID:17050281   PMID:17158104   PMID:17296899   PMID:17325173   PMID:17334993   PMID:17955262   PMID:18029348   PMID:18387409  
PMID:19373682   PMID:19837033   PMID:20227630   PMID:20301506   PMID:20301552   PMID:20340138   PMID:20427659   PMID:20491809   PMID:20801516   PMID:21159148   PMID:21179243   PMID:21736877  
PMID:21832049   PMID:21873635   PMID:22183393   PMID:22246324   PMID:22321011   PMID:22563645   PMID:22674248   PMID:23383108   PMID:23444378   PMID:23824909   PMID:24186977   PMID:24801666  
PMID:25005225   PMID:25023092   PMID:26130484   PMID:26158506   PMID:26459204   PMID:26547627   PMID:27217716   PMID:27720678   PMID:28494495   PMID:28602015   PMID:28675177   PMID:28922694  
PMID:28982955   PMID:29133643   PMID:29181528   PMID:30088388   PMID:30820142   PMID:30902385   PMID:31237401   PMID:31922590   PMID:31999491   PMID:32182224   PMID:32420371   PMID:33092543  


Genomics

Comparative Map Data
NDP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX43,948,776 - 43,973,395 (-)EnsemblGRCh38hg38GRCh38
GRCh38X43,948,776 - 43,973,390 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X43,808,022 - 43,832,636 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X43,692,966 - 43,717,788 (-)NCBINCBI36hg18NCBI36
Build 34X43,564,279 - 43,589,004NCBI
CeleraX47,947,782 - 47,972,683 (-)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX41,537,322 - 41,562,014 (-)NCBIHuRef
CHM1_1X43,841,148 - 43,866,049 (-)NCBICHM1_1
Ndp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X16,751,760 - 16,778,013 (-)NCBIGRCm39mm39
GRCm39 EnsemblX16,751,760 - 16,778,013 (-)Ensembl
GRCm38X16,885,521 - 16,911,774 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX16,885,521 - 16,911,774 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X16,462,647 - 16,488,890 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X16,042,480 - 16,068,723 (-)NCBImm8
CeleraX14,501,428 - 14,528,313 (-)NCBICelera
Cytogenetic MapXA1.2NCBI
cM MapX12.07NCBI
Ndp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X5,796,487 - 5,820,934 (+)NCBI
Rnor_6.0 EnsemblX6,273,733 - 6,281,789 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX6,791,136 - 6,815,583 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X6,791,090 - 6,815,586 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X7,591,522 - 7,615,969 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X17,416,946 - 17,441,393 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX6,291,036 - 6,315,505 (+)NCBICelera
Cytogenetic MapXq11NCBI
Ndp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555164,218,703 - 4,244,846 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555164,218,703 - 4,244,774 (+)NCBIChiLan1.0ChiLan1.0
NDP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X44,224,161 - 44,249,067 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX44,224,161 - 44,249,067 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X36,399,868 - 36,424,953 (-)NCBIMhudiblu_PPA_v0panPan3
NDP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X37,949,560 - 37,975,573 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX37,950,489 - 37,975,346 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX25,177,615 - 25,203,684 (-)NCBI
ROS_Cfam_1.0X38,037,857 - 38,063,932 (-)NCBI
UMICH_Zoey_3.1X38,078,999 - 38,105,057 (-)NCBI
UNSW_CanFamBas_1.0X38,061,990 - 38,088,102 (-)NCBI
UU_Cfam_GSD_1.0X38,157,025 - 38,183,125 (-)NCBI
LOC101974547
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X30,239,407 - 30,264,429 (-)NCBI
SpeTri2.0NW_00493650210,080,169 - 10,105,155 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX39,208,119 - 39,235,758 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X39,208,115 - 39,235,879 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X43,540,096 - 43,551,795 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103231843
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X41,122,064 - 41,148,097 (-)NCBI
ChlSab1.1 EnsemblX41,121,874 - 41,147,567 (-)Ensembl
Ndp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476211,409,837 - 11,435,709 (+)NCBI

Position Markers
STS-X65724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,808,170 - 43,808,304UniSTSGRCh37
Build 36X43,693,114 - 43,693,248RGDNCBI36
CeleraX47,947,930 - 47,948,064RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,537,470 - 41,537,604UniSTS
GeneMap99-GB4 RH MapX130.46UniSTS
NCBI RH MapX157.4UniSTS
AF020217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,827,342 - 43,827,471UniSTSGRCh37
Build 36X43,712,286 - 43,712,415RGDNCBI36
CeleraX47,967,104 - 47,967,233RGD
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX41,556,435 - 41,556,564UniSTS
NDP  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,832,513 - 43,832,864UniSTSGRCh37
Build 36X43,717,457 - 43,717,808RGDNCBI36
CeleraX47,972,275 - 47,972,626RGD
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX41,561,606 - 41,561,957UniSTS
GDB:511265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,817,668 - 43,817,967UniSTSGRCh37
Build 36X43,702,612 - 43,702,911RGDNCBI36
CeleraX47,957,428 - 47,957,727RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,546,905 - 41,547,204UniSTS
GDB:607650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,832,490 - 43,832,821UniSTSGRCh37
Build 36X43,717,434 - 43,717,765RGDNCBI36
CeleraX47,972,252 - 47,972,583RGD
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX41,561,583 - 41,561,914UniSTS
GDB:607659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,817,663 - 43,818,165UniSTSGRCh37
Build 36X43,702,607 - 43,703,109RGDNCBI36
CeleraX47,957,423 - 47,957,925RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,546,900 - 41,547,402UniSTS
GDB:607664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,808,977 - 43,809,326UniSTSGRCh37
Build 36X43,693,921 - 43,694,270RGDNCBI36
CeleraX47,948,737 - 47,949,086RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,538,277 - 41,538,626UniSTS
GDB:607667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,808,286 - 43,808,403UniSTSGRCh37
Build 36X43,693,230 - 43,693,347RGDNCBI36
CeleraX47,948,046 - 47,948,163RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,537,586 - 41,537,703UniSTS
GDB:607670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,808,584 - 43,808,820UniSTSGRCh37
Build 36X43,693,528 - 43,693,764RGDNCBI36
CeleraX47,948,344 - 47,948,580RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,537,884 - 41,538,120UniSTS
GDB:607683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,808,077 - 43,808,403UniSTSGRCh37
Build 36X43,693,021 - 43,693,347RGDNCBI36
CeleraX47,947,837 - 47,948,163RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,537,377 - 41,537,703UniSTS
PMC24149P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,832,775 - 43,832,954UniSTSGRCh37
Build 36X43,717,719 - 43,717,898RGDNCBI36
CeleraX47,972,537 - 47,972,716RGD
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXp11.3UniSTS
HuRefX41,561,868 - 41,562,047UniSTS
NDP_8496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,807,956 - 43,808,642UniSTSGRCh37
Build 36X43,692,900 - 43,693,586RGDNCBI36
CeleraX47,947,716 - 47,948,402RGD
HuRefX41,537,256 - 41,537,942UniSTS
SHGC-12355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X43,808,484 - 43,808,812UniSTSGRCh37
Build 36X43,693,428 - 43,693,756RGDNCBI36
CeleraX47,948,244 - 47,948,572RGD
Cytogenetic MapXp11.4UniSTS
HuRefX41,537,784 - 41,538,112UniSTS
Stanford-G3 RH MapX1695.0UniSTS
GeneMap99-GB4 RH MapX129.57UniSTS
Whitehead-RH MapX45.4UniSTS
NCBI RH MapX157.4UniSTS
GeneMap99-G3 RH MapX897.0UniSTS
GDB:607687  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1424
Count of miRNA genes:635
Interacting mature miRNAs:728
Transcripts:ENST00000378062, ENST00000470584
Prediction methods:Microtar, 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
Medium 15 1 12 5 1 5 285 3 2732 407 11 277 1
Low 641 458 302 28 139 20 1253 253 699 76 882 350 14 1 296 701 1
Below cutoff 1578 1716 957 275 599 129 2249 1477 243 181 99 915 146 727 1392

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000470584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX43,949,682 - 43,973,386 (-)Ensembl
RefSeq Acc Id: ENST00000642620   ⟹   ENSP00000495972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX43,948,776 - 43,973,390 (-)Ensembl
RefSeq Acc Id: ENST00000647044   ⟹   ENSP00000495811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX43,948,791 - 43,973,395 (-)Ensembl
RefSeq Acc Id: NM_000266   ⟹   NP_000257
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X43,948,776 - 43,973,390 (-)NCBI
GRCh37X43,808,022 - 43,832,921 (-)ENTREZGENE
Build 36X43,692,966 - 43,717,788 (-)NCBI Archive
HuRefX41,537,322 - 41,562,014 (-)ENTREZGENE
CHM1_1X43,841,148 - 43,866,049 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000257   ⟸   NM_000266
- Peptide Label: precursor
- UniProtKB: Q00604 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000495972   ⟸   ENST00000642620
RefSeq Acc Id: ENSP00000495811   ⟸   ENST00000647044
Protein Domains
CTCK

Promoters
RGD ID:13605100
Promoter ID:EPDNEW_H28734
Type:initiation region
Name:NDP_2
Description:NDP, norrin cystine knot growth factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28735  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X43,973,390 - 43,973,450EPDNEW
RGD ID:13605102
Promoter ID:EPDNEW_H28735
Type:multiple initiation site
Name:NDP_1
Description:NDP, norrin cystine knot growth factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28734  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X43,973,592 - 43,973,652EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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_000266.4(NDP):c.269G>C (p.Arg90Pro) single nucleotide variant Atrophia bulborum hereditaria [RCV000011425] ChrX:43949932 [GRCh38]
ChrX:43809178 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.224C>G (p.Ser75Cys) single nucleotide variant Atrophia bulborum hereditaria [RCV000011426] ChrX:43949977 [GRCh38]
ChrX:43809223 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.179T>A (p.Val60Glu) single nucleotide variant Atrophia bulborum hereditaria [RCV000011427] ChrX:43950022 [GRCh38]
ChrX:43809268 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) single nucleotide variant Atrophia bulborum hereditaria [RCV000011428] ChrX:43958515 [GRCh38]
ChrX:43817761 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) single nucleotide variant Atrophia bulborum hereditaria [RCV000011429] ChrX:43949914 [GRCh38]
ChrX:43809160 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.370C>T (p.Leu124Phe) single nucleotide variant Familial exudative vitreoretinopathy, X-linked [RCV000011430] ChrX:43949831 [GRCh38]
ChrX:43809077 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.206G>C (p.Cys69Ser) single nucleotide variant Atrophia bulborum hereditaria [RCV000011431] ChrX:43949995 [GRCh38]
ChrX:43809241 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) single nucleotide variant Atrophia bulborum hereditaria [RCV000011432]|not provided [RCV000418772] ChrX:43949817 [GRCh38]
ChrX:43809063 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.1A>G (p.Met1Val) single nucleotide variant Atrophia bulborum hereditaria [RCV000011433] ChrX:43958645 [GRCh38]
ChrX:43817891 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) single nucleotide variant Familial exudative vitreoretinopathy, X-linked [RCV000011434]|not provided [RCV000484893] ChrX:43949840 [GRCh38]
ChrX:43809086 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) single nucleotide variant Atrophia bulborum hereditaria [RCV000011435] ChrX:43958608 [GRCh38]
ChrX:43817854 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) single nucleotide variant Atrophia bulborum hereditaria [RCV000011436] ChrX:43950020 [GRCh38]
ChrX:43809266 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.125A>G (p.His42Arg) single nucleotide variant Exudative vitreoretinopathy, X-linked [RCV000011437]|not provided [RCV000520034] ChrX:43958521 [GRCh38]
ChrX:43817767 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NDP, 1-BP DEL deletion Atrophia bulborum hereditaria [RCV000011438] ChrX:Xp11.4 pathogenic
NM_000266.4(NDP):c.313G>A (p.Ala105Thr) single nucleotide variant Atrophia bulborum hereditaria [RCV000011439] ChrX:43949888 [GRCh38]
ChrX:43809134 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.328T>G (p.Cys110Gly) single nucleotide variant Familial exudative vitreoretinopathy, X-linked [RCV000011440] ChrX:43949873 [GRCh38]
ChrX:43809119 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.362G>T (p.Arg121Leu) single nucleotide variant Familial exudative vitreoretinopathy, X-linked [RCV000011441] ChrX:43949839 [GRCh38]
ChrX:43809085 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.288C>G (p.Cys96Trp) single nucleotide variant Atrophia bulborum hereditaria [RCV000011442] ChrX:43949913 [GRCh38]
ChrX:43809159 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.134T>A (p.Val45Glu) single nucleotide variant Atrophia bulborum hereditaria [RCV000011443] ChrX:43958512 [GRCh38]
ChrX:43817758 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.218C>A (p.Ser73Ter) single nucleotide variant Atrophia bulborum hereditaria [RCV000011444] ChrX:43949983 [GRCh38]
ChrX:43809229 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.302C>T (p.Ser101Phe) single nucleotide variant Atrophia bulborum hereditaria [RCV000011445] ChrX:43949899 [GRCh38]
ChrX:43809145 [GRCh37]
ChrX:Xp11.3
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 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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 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 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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)x1 copy number loss See cases [RCV000053092] ChrX:41823849..44240337 [GRCh38]
ChrX:41683102..44099583 [GRCh37]
ChrX:41568046..43984527 [NCBI36]
ChrX:Xp11.4-11.3
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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
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
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) single nucleotide variant not provided [RCV000078465] ChrX:43958537 [GRCh38]
ChrX:43817783 [GRCh37]
ChrX:Xp11.3
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:10701-155978689)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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_43479884)_(46741003_?)del deletion Kabuki syndrome 2 [RCV000172943] ChrX:43479884..46741003 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
NC_000023.10:g.(?_43479884)_(45501849_?)del deletion Kabuki syndrome 2 [RCV000172944] ChrX:43479884..45501849 [GRCh37]
ChrX:Xp11.3
likely 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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3(chrX:43640608-44123496)x2 copy number gain See cases [RCV000135327] ChrX:43640608..44123496 [GRCh38]
ChrX:43499856..43982742 [GRCh37]
ChrX:43384800..43867686 [NCBI36]
ChrX:Xp11.3
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3(chrX:43573663-44655459)x3 copy number gain See cases [RCV000135763] ChrX:43573663..44655459 [GRCh38]
ChrX:43432911..44514705 [GRCh37]
ChrX:43317855..44399649 [NCBI36]
ChrX:Xp11.3
uncertain significance
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 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 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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
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 Xp11.3(chrX:43955151-43977457)x2 copy number gain See cases [RCV000139930] ChrX:43955151..43977457 [GRCh38]
ChrX:43814397..43836703 [GRCh37]
ChrX:43699341..43721647 [NCBI36]
ChrX:Xp11.3
uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) single nucleotide variant Atrophia bulborum hereditaria [RCV000153538]|not provided [RCV000153537] ChrX:43949981 [GRCh38]
ChrX:43809227 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_000266.4(NDP):c.*10C>G single nucleotide variant not specified [RCV000153535] ChrX:43949789 [GRCh38]
ChrX:43809035 [GRCh37]
ChrX:Xp11.3
benign
NM_000266.4(NDP):c.11A>T (p.His4Leu) single nucleotide variant not provided [RCV000175571] ChrX:43958635 [GRCh38]
ChrX:43817881 [GRCh37]
ChrX:Xp11.3
conflicting interpretations of pathogenicity|uncertain significance
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
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
NM_000266.4(NDP):c.266T>C (p.Phe89Ser) single nucleotide variant not provided [RCV000153536] ChrX:43949935 [GRCh38]
ChrX:43809181 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.365A>G (p.Tyr122Cys) single nucleotide variant not provided [RCV000177026] ChrX:43949836 [GRCh38]
ChrX:43809082 [GRCh37]
ChrX:Xp11.3
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 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3(chrX:43752453-43834126)x2 copy number gain See cases [RCV000240119] ChrX:43752453..43834126 [GRCh37]
ChrX:Xp11.3
uncertain significance
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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_000266.4(NDP):c.-77A>G single nucleotide variant Exudative retinopathy [RCV000210236] ChrX:43958722 [GRCh38]
ChrX:43817968 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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 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:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000266.4(NDP):c.*715T>C single nucleotide variant not specified [RCV000243336] ChrX:43949084 [GRCh38]
ChrX:43808330 [GRCh37]
ChrX:Xp11.3
likely benign
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000716599]|not provided [RCV000828198]|not specified [RCV000377254] ChrX:43958577 [GRCh38]
ChrX:43817823 [GRCh37]
ChrX:Xp11.3
benign
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) single nucleotide variant not provided [RCV000657797] ChrX:43958491 [GRCh38]
ChrX:43817737 [GRCh37]
ChrX:Xp11.3
pathogenic|likely pathogenic
NM_000266.4(NDP):c.325C>T (p.Arg109Ter) single nucleotide variant not provided [RCV000397119] ChrX:43949876 [GRCh38]
ChrX:43809122 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000266.4(NDP):c.-396_-383del microsatellite not provided [RCV000828197]|not specified [RCV000732112] ChrX:43973479..43973492 [GRCh38]
ChrX:43832725..43832738 [GRCh37]
ChrX:Xp11.3
likely benign
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) single nucleotide variant Atrophia bulborum hereditaria [RCV000415091] ChrX:43949933 [GRCh38]
ChrX:43809179 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_000266.4(NDP):c.314C>T (p.Ala105Val) single nucleotide variant Persistent hyperplastic primary vitreous [RCV000415329] ChrX:43949887 [GRCh38]
ChrX:43809133 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
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 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_000266.4(NDP):c.267C>G (p.Phe89Leu) single nucleotide variant not provided [RCV000440494] ChrX:43949934 [GRCh38]
ChrX:43809180 [GRCh37]
ChrX:Xp11.3
likely pathogenic
NM_000266.4(NDP):c.385G>A (p.Glu129Lys) single nucleotide variant not provided [RCV000441399] ChrX:43949816 [GRCh38]
ChrX:43809062 [GRCh37]
ChrX:Xp11.3
conflicting interpretations of pathogenicity|uncertain significance
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 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp11.4-11.3(chrX:40933552-45379179)x2 copy number gain See cases [RCV000448864] ChrX:40933552..45379179 [GRCh37]
ChrX:Xp11.4-11.3
likely pathogenic
NM_000266.4(NDP):c.196dup (p.Glu66fs) duplication not provided [RCV000479394] ChrX:43950004..43950005 [GRCh38]
ChrX:43809250..43809251 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23
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 Xp11.3(chrX:43811816-43843610)x2 copy number gain See cases [RCV000511233] ChrX:43811816..43843610 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000266.4(NDP):c.308_311dup (p.Lys104fs) duplication Retinal detachment [RCV000626638] ChrX:43949889..43949890 [GRCh38]
ChrX:43809135..43809136 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_000266.4(NDP):c.200G>T (p.Gly67Val) single nucleotide variant Familial exudative vitreoretinopathy, X-linked [RCV000626125] ChrX:43950001 [GRCh38]
ChrX:43809247 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000266.4(NDP):c.174+5G>C single nucleotide variant not provided [RCV000659155] ChrX:43958467 [GRCh38]
ChrX:43817713 [GRCh37]
ChrX:Xp11.3
uncertain significance
Single allele duplication not provided [RCV000677979] ChrX:43752453..43834126 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000266.4(NDP):c.*14G>A single nucleotide variant History of neurodevelopmental disorder [RCV000717799] ChrX:43949785 [GRCh38]
ChrX:43809031 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.101C>T (p.Ser34Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000718186]|not provided [RCV000828445] ChrX:43958545 [GRCh38]
ChrX:43817791 [GRCh37]
ChrX:Xp11.3
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.3(chrX:43807135-43845720)x0 copy number loss not provided [RCV000753524] ChrX:43807135..43845720 [GRCh37]
ChrX:Xp11.3
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 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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_000266.4(NDP):c.15A>G (p.Val5=) single nucleotide variant not provided [RCV000877796] ChrX:43958631 [GRCh38]
ChrX:43817877 [GRCh37]
ChrX:Xp11.3
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp11.3(chrX:43814974-43848012)x2 copy number gain not provided [RCV000849155] ChrX:43814974..43848012 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.*3C>A single nucleotide variant not provided [RCV000992422] ChrX:43949796 [GRCh38]
ChrX:43809042 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.387G>A (p.Glu129=) single nucleotide variant not provided [RCV000981771] ChrX:43949814 [GRCh38]
ChrX:43809060 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_000266.4(NDP):c.393C>A (p.Cys131Ter) single nucleotide variant not provided [RCV001236193] ChrX:43949808 [GRCh38]
ChrX:43809054 [GRCh37]
ChrX:Xp11.3
likely pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) copy number loss Microcephaly [RCV001252950] ChrX:41150139..43976458 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
NM_000266.4(NDP):c.269G>A (p.Arg90His) single nucleotide variant Atrophia bulborum hereditaria [RCV001003091]|not provided [RCV001306511] ChrX:43949932 [GRCh38]
ChrX:43809178 [GRCh37]
ChrX:Xp11.3
likely pathogenic|uncertain significance
NM_000266.4(NDP):c.258G>T (p.Lys86Asn) single nucleotide variant Inborn genetic diseases [RCV001266110] ChrX:43949943 [GRCh38]
ChrX:43809189 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.3(chrX:43740441-43858706)x2 copy number gain not provided [RCV001258955] ChrX:43740441..43858706 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) single nucleotide variant not provided [RCV001268627] ChrX:43958534 [GRCh38]
ChrX:43817780 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000266.4(NDP):c.226G>A (p.Glu76Lys) single nucleotide variant not provided [RCV001350165] ChrX:43949975 [GRCh38]
ChrX:43809221 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936) copy number loss Global developmental delay [RCV001352647] ChrX:41342834..43901936 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_43809045)_(43817891_?)dup duplication not provided [RCV001313271] ChrX:43809045..43817891 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.110G>A (p.Arg37Gln) single nucleotide variant not provided [RCV001317661] ChrX:43958536 [GRCh38]
ChrX:43817782 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.229C>A (p.Pro77Thr) single nucleotide variant not provided [RCV001319939] ChrX:43949972 [GRCh38]
ChrX:43809218 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.84C>G (p.Ser28Arg) single nucleotide variant not provided [RCV001346713] ChrX:43958562 [GRCh38]
ChrX:43817808 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_000266.4(NDP):c.92T>A (p.Ile31Lys) single nucleotide variant not provided [RCV001346104] ChrX:43958554 [GRCh38]
ChrX:43817800 [GRCh37]
ChrX:Xp11.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7678 AgrOrtholog
COSMIC NDP COSMIC
Ensembl Genes ENSG00000124479 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000495811 UniProtKB/Swiss-Prot
  ENSP00000495972 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000642620 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000647044 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
GTEx ENSG00000124479 GTEx
HGNC ID HGNC:7678 ENTREZGENE
Human Proteome Map NDP Human Proteome Map
InterPro Cys_knot_C UniProtKB/Swiss-Prot
  Cystine-knot_cytokine UniProtKB/Swiss-Prot
  Glyco_hormone_CN UniProtKB/Swiss-Prot
  Norrie_dis UniProtKB/Swiss-Prot
KEGG Report hsa:4693 UniProtKB/Swiss-Prot
NCBI Gene 4693 ENTREZGENE
OMIM 300658 OMIM
  305390 OMIM
  310600 OMIM
PANTHER PTHR28611 UniProtKB/Swiss-Prot
Pfam Cys_knot UniProtKB/Swiss-Prot
PharmGKB PA31481 PharmGKB
PRINTS NORRIEDSEASE UniProtKB/Swiss-Prot
PROSITE CTCK_1 UniProtKB/Swiss-Prot
  CTCK_2 UniProtKB/Swiss-Prot
SMART SM00041 UniProtKB/Swiss-Prot
UniProt NDP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R8K6 UniProtKB/Swiss-Prot
  Q5JYH5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 NDP  norrin cystine knot growth factor NDP    NDP, norrin cystine knot growth factor  Symbol and/or name change 5135510 APPROVED
2016-05-31 NDP  NDP, norrin cystine knot growth factor    Norrie disease (pseudoglioma)  Symbol and/or name change 5135510 APPROVED
2016-03-21 NDP  Norrie disease (pseudoglioma)  EVR2  exudative vitreoretinopathy 2 (X-linked)  Data Merged 737654 PROVISIONAL
2011-08-16 NDP  Norrie disease (pseudoglioma)  NDP  Norrie disease (pseudoglioma)  Symbol and/or name change 5135510 APPROVED