GPR143 (G protein-coupled receptor 143) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GPR143 (G protein-coupled receptor 143) Homo sapiens
Analyze
Symbol: GPR143
Name: G protein-coupled receptor 143
RGD ID: 1353035
HGNC Page HGNC
Description: Exhibits L-DOPA receptor activity; dopamine binding activity; and organic acid binding activity. Involved in several processes, including intracellular signal transduction; melanosome organization; and melanosome transport. Localizes to Golgi apparatus; apical plasma membrane; and bounding membrane of organelle. Implicated in congenital nystagmus 6.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: G-protein coupled receptor 143; NYS6; OA1; ocular albinism 1; ocular albinism type 1 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GPR143P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX9,725,346 - 9,786,297 (-)EnsemblGRCh38hg38GRCh38
GRCh38X9,725,346 - 9,786,260 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X9,693,386 - 9,733,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X9,653,454 - 9,693,917 (-)NCBINCBI36hg18NCBI36
Build 34X9,503,189 - 9,543,653NCBI
CeleraX13,865,374 - 13,905,925 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX7,525,733 - 7,566,160 (-)NCBIHuRef
CHM1_1X9,723,929 - 9,764,313 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:2573275   PMID:7647783   PMID:8230160   PMID:8634705   PMID:9529334   PMID:9887374   PMID:10094567   PMID:10471510   PMID:11115845   PMID:11214907   PMID:11793467   PMID:12477932  
PMID:12538723   PMID:12643545   PMID:12868035   PMID:16524428   PMID:16621890   PMID:16646960   PMID:16754205   PMID:17081065   PMID:17516023   PMID:17822861   PMID:17960122   PMID:18523664  
PMID:18798082   PMID:18828673   PMID:18978956   PMID:19123159   PMID:19390656   PMID:19604113   PMID:19610097   PMID:19717472   PMID:20301517   PMID:20649618   PMID:20861488   PMID:21348135  
PMID:21423867   PMID:21541274   PMID:21730137   PMID:21873635   PMID:21931697   PMID:22486324   PMID:22916221   PMID:23535732   PMID:24301936   PMID:24526317   PMID:24650003   PMID:24736838  
PMID:26061757   PMID:26160353   PMID:26547501   PMID:26741053   PMID:27036142   PMID:27367509   PMID:27720922   PMID:27958203   PMID:28211458   PMID:28339057   PMID:28397224   PMID:28632878  
PMID:29847651   PMID:30160833   PMID:30555098   PMID:31574285   PMID:31746431   PMID:31884582  


Genomics

Comparative Map Data
GPR143
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX9,725,346 - 9,786,297 (-)EnsemblGRCh38hg38GRCh38
GRCh38X9,725,346 - 9,786,260 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X9,693,386 - 9,733,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X9,653,454 - 9,693,917 (-)NCBINCBI36hg18NCBI36
Build 34X9,503,189 - 9,543,653NCBI
CeleraX13,865,374 - 13,905,925 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX7,525,733 - 7,566,160 (-)NCBIHuRef
CHM1_1X9,723,929 - 9,764,313 (-)NCBICHM1_1
Gpr143
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X151,564,917 - 151,591,647 (+)NCBIGRCm39mm39
GRCm39 EnsemblX151,564,917 - 151,591,642 (+)Ensembl
GRCm38X152,781,921 - 152,808,651 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX152,781,921 - 152,808,646 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X149,216,464 - 149,243,189 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X148,122,702 - 148,149,362 (+)NCBImm8
CeleraX136,442,756 - 136,469,491 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Gpr143
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X22,002,914 - 22,027,720 (+)NCBI
Rnor_6.0 EnsemblX23,668,363 - 23,693,162 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X23,668,363 - 23,693,162 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X24,084,931 - 24,109,730 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X42,481,440 - 42,506,239 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX22,403,114 - 22,427,887 (+)NCBICelera
Cytogenetic MapXq13NCBI
Gpr143
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554997,909,019 - 7,928,431 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554997,900,276 - 7,953,847 (-)NCBIChiLan1.0ChiLan1.0
GPR143
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X9,609,597 - 9,650,069 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX9,609,598 - 9,650,075 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X2,357,835 - 2,398,389 (-)NCBIMhudiblu_PPA_v0panPan3
GPR143
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X6,438,068 - 6,479,731 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX6,437,660 - 6,474,447 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX6,385,711 - 6,433,423 (-)NCBI
ROS_Cfam_1.0X6,374,640 - 6,424,234 (-)NCBI
UMICH_Zoey_3.1X6,367,596 - 6,415,264 (-)NCBI
UNSW_CanFamBas_1.0X6,402,457 - 6,450,986 (-)NCBI
UU_Cfam_GSD_1.0X6,395,377 - 6,440,848 (-)NCBI
Gpr143
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049534,141,453 - 4,180,471 (-)NCBI
SpeTri2.0NW_004936644196,344 - 236,659 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPR143
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X6,242,296 - 6,276,654 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y4,669,764 - 4,704,304 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X6,541,506 - 6,575,924 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPR143
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X8,178,818 - 8,223,291 (-)NCBI
ChlSab1.1 EnsemblX8,179,154 - 8,222,603 (-)Ensembl
Gpr143
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248347,281,962 - 7,329,484 (-)NCBI

Position Markers
D1S1665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,229,391 - 74,229,615UniSTSGRCh37
Build 36174,001,979 - 74,002,203RGDNCBI36
Celera172,474,856 - 72,475,080RGD
HuRef172,364,382 - 72,364,602UniSTS
Marshfield Genetic Map1102.02RGD
Marshfield Genetic Map1102.02UniSTS
deCODE Assembly Map199.62UniSTS
Whitehead-RH Map1216.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
GDB:591575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,728,676 - 9,729,221UniSTSGRCh37
Build 36X9,688,676 - 9,689,221RGDNCBI36
CeleraX13,900,596 - 13,901,141RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,560,875 - 7,561,420UniSTS
SGC31598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,693,493 - 9,693,696UniSTSGRCh37
Build 36X9,653,493 - 9,653,696RGDNCBI36
CeleraX13,865,414 - 13,865,617RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,525,773 - 7,525,976UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
Whitehead-RH MapX6.1UniSTS
NCBI RH MapX10.0UniSTS
PMC140306P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,711,459 - 9,711,811UniSTSGRCh37
Build 36X9,671,459 - 9,671,811RGDNCBI36
CeleraX13,883,379 - 13,883,731RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,543,659 - 7,544,011UniSTS
DXS9850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,732,468 - 9,732,629UniSTSGRCh37
Build 36X9,692,468 - 9,692,629RGDNCBI36
CeleraX13,904,388 - 13,904,549RGD
HuRefX7,564,667 - 7,564,828UniSTS
GPR143_2945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,693,412 - 9,693,963UniSTSGRCh37
Build 36X9,653,412 - 9,653,963RGDNCBI36
CeleraX13,865,333 - 13,865,884RGD
HuRefX7,525,692 - 7,526,243UniSTS
GDB:591618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,727,418 - 9,728,849UniSTSGRCh37
CeleraX13,899,338 - 13,900,769UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX7,559,616 - 7,561,048UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1194
Count of miRNA genes:712
Interacting mature miRNAs:779
Transcripts:ENST00000380929, ENST00000431126, ENST00000447366, ENST00000467482, ENST00000480178, ENST00000487206
Prediction methods:Miranda, Pita, Rnahybrid
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 2
Medium 32 13 6 7 6 243 45 103 122 34 5
Low 489 63 1462 412 83 263 1425 25 2990 256 1251 1435 157 1 298 762 4
Below cutoff 1789 2549 234 196 1205 186 2289 1686 639 48 68 106 17 873 1657

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU188283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK579310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z48804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000431126   ⟹   ENSP00000406138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,743,565 - 9,766,189 (-)Ensembl
RefSeq Acc Id: ENST00000447366   ⟹   ENSP00000390546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,739,552 - 9,786,297 (-)Ensembl
RefSeq Acc Id: ENST00000467482   ⟹   ENSP00000417161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,725,346 - 9,765,847 (-)Ensembl
RefSeq Acc Id: ENST00000480178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,747,833 - 9,759,394 (-)Ensembl
RefSeq Acc Id: ENST00000487206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,738,229 - 9,739,719 (-)Ensembl
RefSeq Acc Id: NM_000273   ⟹   NP_000264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,725,346 - 9,765,847 (-)NCBI
GRCh37X9,693,453 - 9,734,005 (-)ENTREZGENE
Build 36X9,653,454 - 9,693,917 (-)NCBI Archive
HuRefX7,525,733 - 7,566,160 (-)ENTREZGENE
CHM1_1X9,723,929 - 9,764,313 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274541   ⟹   XP_005274598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,725,850 - 9,765,843 (-)NCBI
GRCh37X9,693,453 - 9,734,005 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452387   ⟹   XP_024308155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,725,413 - 9,786,260 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452388   ⟹   XP_024308156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,725,413 - 9,778,600 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000264   ⟸   NM_000273
- UniProtKB: P51810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274598   ⟸   XM_005274541
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308155   ⟸   XM_024452387
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308156   ⟸   XM_024452388
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000417161   ⟸   ENST00000467482
RefSeq Acc Id: ENSP00000406138   ⟸   ENST00000431126
RefSeq Acc Id: ENSP00000390546   ⟸   ENST00000447366

Promoters
RGD ID:13604692
Promoter ID:EPDNEW_H28530
Type:initiation region
Name:GPR143_2
Description:G protein-coupled receptor 143
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28531  EPDNEW_H28532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,765,847 - 9,765,907EPDNEW
RGD ID:13604694
Promoter ID:EPDNEW_H28531
Type:initiation region
Name:GPR143_3
Description:G protein-coupled receptor 143
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28530  EPDNEW_H28532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,766,033 - 9,766,093EPDNEW
RGD ID:13604696
Promoter ID:EPDNEW_H28532
Type:initiation region
Name:GPR143_1
Description:G protein-coupled receptor 143
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28530  EPDNEW_H28531  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,786,312 - 9,786,372EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000273.3(GPR143):c.827T>G (p.Ile276Ser) single nucleotide variant not provided [RCV000523125] ChrX:9741396 [GRCh38]
ChrX:9709436 [GRCh37]
ChrX:Xp22.2
uncertain significance
NC_000023.9:g.9688757-?_9693917+?del deletion Ocular albinism, type I [RCV000022876] ChrX:9688757 [NCBI36]
ChrX:Xp22.3
pathogenic
GPR143, 2-BP INS, NT992 insertion Ocular albinism, type I [RCV000011260] ChrX:Xp22.3 pathogenic
GPR143, 17-BP DEL deletion Ocular albinism, type I [RCV000011261] ChrX:Xp22.3 pathogenic
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) single nucleotide variant Ocular albinism, type I [RCV000011262]|not provided [RCV000084931] ChrX:9759390 [GRCh38]
ChrX:9727430 [GRCh37]
ChrX:Xp22.2
pathogenic|not provided
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) single nucleotide variant Ocular albinism, type I [RCV000011263]|not provided [RCV000084936] ChrX:9759332 [GRCh38]
ChrX:9727372 [GRCh37]
ChrX:Xp22.2
pathogenic|not provided
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) single nucleotide variant Ocular albinism, type I [RCV000011264]|not provided [RCV000084940] ChrX:9743637 [GRCh38]
ChrX:9711677 [GRCh37]
ChrX:Xp22.2
pathogenic|not provided
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) single nucleotide variant Ocular albinism, type I [RCV000011265]|not provided [RCV000084930] ChrX:9759390 [GRCh38]
ChrX:9727430 [GRCh37]
ChrX:Xp22.2
pathogenic|not provided
GPR143, 420G-A single nucleotide variant Ocular albinism, type I [RCV000011266] ChrX:Xp22.3 pathogenic
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) single nucleotide variant Ocular albinism, type I [RCV000011267]|not provided [RCV000084909] ChrX:9765714 [GRCh38]
ChrX:9733754 [GRCh37]
ChrX:Xp22.2
pathogenic|not provided
NM_000273.3(GPR143):c.266C>T (p.Ser89Phe) single nucleotide variant Nystagmus 6, congenital, X-linked [RCV000011268] ChrX:9760811 [GRCh38]
ChrX:9728851 [GRCh37]
ChrX:Xp22.2
pathogenic
GPR143, 14-BP DEL, NT816 deletion Ocular albinism, type I [RCV000011269] ChrX:Xp22.3 pathogenic
GPR143, 37-BP DEL deletion Nystagmus 6, congenital, X-linked [RCV000011270] ChrX:Xp22.3 pathogenic
GPR143, 19-BP DUP duplication Nystagmus 6, congenital, X-linked [RCV000011271] ChrX:Xp22.3 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 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
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 Xp22.31-22.2(chrX:8327550-10980235)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|See cases [RCV000053056] ChrX:8327550..10980235 [GRCh38]
ChrX:8295591..10998355 [GRCh37]
ChrX:8255591..10908276 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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 Xp22.32-22.2(chrX:4557134-10838424)x1 copy number loss See cases [RCV000053028] ChrX:4557134..10838424 [GRCh38]
ChrX:4475175..10856543 [GRCh37]
ChrX:4485175..10766464 [NCBI36]
ChrX:Xp22.32-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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 Xp22.31-22.2(chrX:9511509-10060397)x2 copy number gain See cases [RCV000054139] ChrX:9511509..10060397 [GRCh38]
ChrX:9479549..10028437 [GRCh37]
ChrX:9439549..9988437 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
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_000273.3(GPR143):c.116T>G (p.Leu39Arg) single nucleotide variant not provided [RCV000084910] ChrX:9765702 [GRCh38]
ChrX:9733742 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.13C>T (p.Arg5Cys) single nucleotide variant not provided [RCV000084911] ChrX:9765805 [GRCh38]
ChrX:9733845 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.155_161del (p.Arg52fs) deletion not provided [RCV000084912] ChrX:9765657..9765663 [GRCh38]
ChrX:9733697..9733703 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.165_193del (p.Pro57fs) deletion not provided [RCV000084913] ChrX:9765625..9765653 [GRCh38]
ChrX:9733665..9733693 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.174_175insC (p.Ser59fs) insertion not provided [RCV000084914] ChrX:9765643..9765644 [GRCh38]
ChrX:9733683..9733684 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.175del (p.Ser59fs) deletion not provided [RCV000084915] ChrX:9765643 [GRCh38]
ChrX:9733683 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.216_232del (p.Ala73fs) deletion not provided [RCV000084916] ChrX:9765586..9765602 [GRCh38]
ChrX:9733626..9733642 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) single nucleotide variant not provided [RCV000084917] ChrX:9765586 [GRCh38]
ChrX:9733626 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic|not provided
NM_000273.3(GPR143):c.233A>T (p.Asp78Val) single nucleotide variant not provided [RCV000084918] ChrX:9765585 [GRCh38]
ChrX:9733625 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.250G>C (p.Gly84Arg) single nucleotide variant not provided [RCV000084919] ChrX:9765568 [GRCh38]
ChrX:9733608 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.251-1G>C single nucleotide variant not provided [RCV000084920] ChrX:9760827 [GRCh38]
ChrX:9728867 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.251G>A (p.Gly84Asp) single nucleotide variant not provided [RCV000084921] ChrX:9760826 [GRCh38]
ChrX:9728866 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.310del (p.Asp104fs) deletion not provided [RCV000084922] ChrX:9760767 [GRCh38]
ChrX:9728807 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.346T>C (p.Cys116Arg) single nucleotide variant not provided [RCV000084923] ChrX:9760731 [GRCh38]
ChrX:9728771 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.347G>C (p.Cys116Ser) single nucleotide variant not provided [RCV000084924] ChrX:9760730 [GRCh38]
ChrX:9728770 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.353G>A (p.Gly118Glu) single nucleotide variant not provided [RCV000084925] ChrX:9760724 [GRCh38]
ChrX:9728764 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.360+13C>G single nucleotide variant not provided [RCV000084926]|not specified [RCV000253665] ChrX:9760704 [GRCh38]
ChrX:9728744 [GRCh37]
ChrX:Xp22.2
benign|not provided
NM_000273.3(GPR143):c.360+5G>C single nucleotide variant not provided [RCV000084927] ChrX:9760712 [GRCh38]
ChrX:9728752 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.360G>A (p.Ala120=) single nucleotide variant not provided [RCV000084928] ChrX:9760717 [GRCh38]
ChrX:9728757 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) single nucleotide variant Ocular albinism, type I [RCV000990469]|not provided [RCV000084929]|not specified [RCV000193563] ChrX:9759416 [GRCh38]
ChrX:9727456 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000273.3(GPR143):c.402del (p.Cys136fs) deletion not provided [RCV000084932] ChrX:9759385 [GRCh38]
ChrX:9727425 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.413C>T (p.Ala138Val) single nucleotide variant not provided [RCV000084933] ChrX:9759374 [GRCh38]
ChrX:9727414 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.444_445insAGATCGG (p.Ala149fs) insertion not provided [RCV000084934] ChrX:9759342..9759343 [GRCh38]
ChrX:9727382..9727383 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.455+1G>C single nucleotide variant not provided [RCV000084935] ChrX:9759331 [GRCh38]
ChrX:9727371 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.518C>A (p.Ala173Asp) single nucleotide variant not provided [RCV000084937] ChrX:9748604 [GRCh38]
ChrX:9716644 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.677del (p.Gly226fs) deletion not provided [RCV000084938] ChrX:9743655 [GRCh38]
ChrX:9711695 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.686G>T (p.Gly229Val) single nucleotide variant not provided [RCV000084939] ChrX:9743646 [GRCh38]
ChrX:9711686 [GRCh37]
ChrX:Xp22.2
likely pathogenic|not provided
NM_000273.3(GPR143):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV000084941] ChrX:9743635 [GRCh38]
ChrX:9711675 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.705G>A (p.Glu235=) single nucleotide variant not provided [RCV000084942] ChrX:9743627 [GRCh38]
ChrX:9711667 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.730A>G (p.Ile244Val) single nucleotide variant not provided [RCV000084943] ChrX:9743602 [GRCh38]
ChrX:9711642 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.756_767+2del deletion not provided [RCV000084944] ChrX:9743563..9743576 [GRCh38]
ChrX:9711603..9711616 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.779A>T (p.Asn260Ile) single nucleotide variant not provided [RCV000084945] ChrX:9741444 [GRCh38]
ChrX:9709484 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.812A>G (p.Glu271Gly) single nucleotide variant not provided [RCV000084946] ChrX:9741411 [GRCh38]
ChrX:9709451 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.870_872del (p.Thr291del) deletion not provided [RCV000084947] ChrX:9741351..9741353 [GRCh38]
ChrX:9709391..9709393 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) single nucleotide variant Albinism [RCV000504645]|not provided [RCV000084948] ChrX:9741349 [GRCh38]
ChrX:9709389 [GRCh37]
ChrX:Xp22.2
likely pathogenic|not provided
NM_000273.3(GPR143):c.876G>A (p.Trp292Ter) single nucleotide variant not provided [RCV000084949] ChrX:9741347 [GRCh38]
ChrX:9709387 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.876G>T (p.Trp292Cys) single nucleotide variant not provided [RCV000084950] ChrX:9741347 [GRCh38]
ChrX:9709387 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.885+1G>A single nucleotide variant not provided [RCV000084951] ChrX:9741337 [GRCh38]
ChrX:9709377 [GRCh37]
ChrX:Xp22.2
not provided
NM_000273.3(GPR143):c.931_932insCG (p.Tyr311fs) insertion not provided [RCV000084952] ChrX:9739673..9739674 [GRCh38]
ChrX:9707713..9707714 [GRCh37]
ChrX:Xp22.2
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000273.3(GPR143):c.223dup (p.Ala75fs) duplication Ocular albinism, type I [RCV000149456] ChrX:9765594..9765595 [GRCh38]
ChrX:9733634..9733635 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000273.3(GPR143):c.250+11G>C single nucleotide variant not provided [RCV000173094] ChrX:9765557 [GRCh38]
ChrX:9733597 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
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 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: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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
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 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
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 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
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 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
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
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
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
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
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 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 Xp22.33-11.21(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: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: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 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000273.3(GPR143):c.1120+16C>T single nucleotide variant not specified [RCV000248718] ChrX:9739469 [GRCh38]
ChrX:9707509 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
NM_000273.3(GPR143):c.456-9G>C single nucleotide variant not provided [RCV000888882]|not specified [RCV000244964] ChrX:9748675 [GRCh38]
ChrX:9716715 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_000273.3(GPR143):c.767+10C>G single nucleotide variant not specified [RCV000249929] ChrX:9743555 [GRCh38]
ChrX:9711595 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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
NM_000273.3(GPR143):c.541G>A (p.Val181Met) single nucleotide variant not provided [RCV000331439] ChrX:9748581 [GRCh38]
ChrX:9716621 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) deletion Nystagmus [RCV000414936] ChrX:9765782..9765806 [GRCh38]
ChrX:9733822..9733846 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000273.3(GPR143):c.163_170del (p.Ala55fs) deletion not provided [RCV000413533] ChrX:9765648..9765655 [GRCh38]
ChrX:9733688..9733695 [GRCh37]
ChrX:Xp22.2
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
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-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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [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 Xp22.33-11.22(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 Xp22.31-22.2(chrX:9453761-10037284)x2 copy number gain See cases [RCV000447043] ChrX:9453761..10037284 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) single nucleotide variant Albinism [RCV000505015] ChrX:9741444 [GRCh38]
ChrX:9709484 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000273.3(GPR143):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000418426] ChrX:9765816 [GRCh38]
ChrX:9733856 [GRCh37]
ChrX:Xp22.2
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 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: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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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
NM_000273.3(GPR143):c.570C>T (p.His190=) single nucleotide variant not provided [RCV000904947]|not specified [RCV000504473] ChrX:9746132 [GRCh38]
ChrX:9714172 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
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
NM_000273.3(GPR143):c.583T>C (p.Tyr195His) single nucleotide variant not specified [RCV000502894] ChrX:9746119 [GRCh38]
ChrX:9714159 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_000273.3(GPR143):c.162C>T (p.Pro54=) single nucleotide variant not specified [RCV000500808] ChrX:9765656 [GRCh38]
ChrX:9733696 [GRCh37]
ChrX:Xp22.2
likely benign
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 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.31-22.2(chrX:6954111-10636640)x1 copy number loss See cases [RCV000511565] ChrX:6954111..10636640 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
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 Xp22.2(chrX:9536510-10058627)x2 copy number gain See cases [RCV000511473] ChrX:9536510..10058627 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
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_000273.3(GPR143):c.768-1G>A single nucleotide variant Inborn genetic diseases [RCV000624838] ChrX:9741456 [GRCh38]
ChrX:9709496 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
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
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
Single allele duplication not provided [RCV000677917] ChrX:9459547..10022198 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
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 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
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 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
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 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000273.3(GPR143):c.1133G>A (p.Ser378Asn) single nucleotide variant not provided [RCV000893983] ChrX:9725828 [GRCh38]
ChrX:9693868 [GRCh37]
ChrX:Xp22.2
benign
NM_000273.3(GPR143):c.731del (p.Ile244fs) deletion Nystagmus 6, congenital, X-linked [RCV000760161] ChrX:9743601 [GRCh38]
ChrX:9711641 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000273.3(GPR143):c.506G>A (p.Cys169Tyr) single nucleotide variant not provided [RCV000762603] ChrX:9748616 [GRCh38]
ChrX:9716656 [GRCh37]
ChrX:Xp22.2
likely 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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000273.3(GPR143):c.1045G>A (p.Glu349Lys) single nucleotide variant not provided [RCV000948512] ChrX:9739560 [GRCh38]
ChrX:9707600 [GRCh37]
ChrX:Xp22.2
benign
NM_000273.3(GPR143):c.1079G>A (p.Gly360Asp) single nucleotide variant not provided [RCV000959309] ChrX:9739526 [GRCh38]
ChrX:9707566 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000273.3(GPR143):c.655G>A (p.Ala219Thr) single nucleotide variant not provided [RCV000933133] ChrX:9746047 [GRCh38]
ChrX:9714087 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000273.3(GPR143):c.1120+4A>G single nucleotide variant not provided [RCV000893087] ChrX:9739481 [GRCh38]
ChrX:9707521 [GRCh37]
ChrX:Xp22.2
benign
NM_000273.3(GPR143):c.1036A>G (p.Met346Val) single nucleotide variant not provided [RCV000893088] ChrX:9739569 [GRCh38]
ChrX:9707609 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
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
NM_000273.3(GPR143):c.23C>A (p.Thr8Asn) single nucleotide variant not provided [RCV000814676] ChrX:9765795 [GRCh38]
ChrX:9733835 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000273.3(GPR143):c.461del (p.Ile154fs) deletion not provided [RCV001008492] ChrX:9748661 [GRCh38]
ChrX:9716701 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000273.3(GPR143):c.522C>T (p.Ala174=) single nucleotide variant not provided [RCV000886505] ChrX:9748600 [GRCh38]
ChrX:9716640 [GRCh37]
ChrX:Xp22.2
benign
NM_000273.3(GPR143):c.47C>A (p.Ala16Glu) single nucleotide variant not provided [RCV000882076] ChrX:9765771 [GRCh38]
ChrX:9733811 [GRCh37]
ChrX:Xp22.2
benign
NM_000273.3(GPR143):c.496A>G (p.Thr166Ala) single nucleotide variant not provided [RCV001093288] ChrX:9748626 [GRCh38]
ChrX:9716666 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000273.3(GPR143):c.548+2T>A single nucleotide variant Ocular albinism, type I [RCV001171312] ChrX:9748572 [GRCh38]
ChrX:9716612 [GRCh37]
ChrX:Xp22.2
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
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr) single nucleotide variant Nystagmus 6, congenital, X-linked [RCV001196371] ChrX:9739658 [GRCh38]
ChrX:9707698 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
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_000273.3(GPR143):c.158G>A (p.Arg53Gln) single nucleotide variant not provided [RCV001308441] ChrX:9765660 [GRCh38]
ChrX:9733700 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_000273.3(GPR143):c.935G>T (p.Gly312Val) single nucleotide variant not provided [RCV001311051] ChrX:9739670 [GRCh38]
ChrX:9707710 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000273.3(GPR143):c.428T>C (p.Leu143Pro) single nucleotide variant not provided [RCV001337594] ChrX:9759359 [GRCh38]
ChrX:9727399 [GRCh37]
ChrX:Xp22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20145 AgrOrtholog
COSMIC GPR143 COSMIC
Ensembl Genes ENSG00000101850 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000390546 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000406138 UniProtKB/TrEMBL
  ENSP00000417161 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000431126 UniProtKB/TrEMBL
  ENST00000447366 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000467482 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000101850 GTEx
HGNC ID HGNC:20145 ENTREZGENE
Human Proteome Map GPR143 Human Proteome Map
InterPro GPR143 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4935 UniProtKB/Swiss-Prot
NCBI Gene 4935 ENTREZGENE
OMIM 300500 OMIM
  300808 OMIM
  300814 OMIM
PANTHER PTHR15177 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ocular_alb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31872 PharmGKB
PRINTS OCULARALBNSM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5J6CXI4_HUMAN UniProtKB/TrEMBL
  A0A5J6CXM9_HUMAN UniProtKB/TrEMBL
  C9J9N1_HUMAN UniProtKB/TrEMBL
  GP143_HUMAN UniProtKB/Swiss-Prot
  H7BZN6_HUMAN UniProtKB/TrEMBL
  P51810 ENTREZGENE
UniProt Secondary Q6NTI7 UniProtKB/Swiss-Prot