GPR143 (G protein-coupled receptor 143) - Rat Genome Database

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Gene: GPR143 (G protein-coupled receptor 143) Homo sapiens
Analyze
Symbol: GPR143
Name: G protein-coupled receptor 143
RGD ID: 1353035
HGNC Page HGNC:20145
Description: Enables L-DOPA receptor activity; carboxylic acid binding activity; and dopamine binding activity. Involved in melanosome organization; melanosome transport; and phospholipase C-activating G protein-coupled receptor signaling pathway. Located in Golgi apparatus; apical plasma membrane; and bounding membrane of organelle. Implicated in congenital nystagmus 6 and ocular albinism 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Related Pseudogenes: GPR143YP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X9,725,346 - 9,778,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX9,725,346 - 9,786,297 (-)EnsemblGRCh38hg38GRCh38
GRCh37X9,693,386 - 9,733,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X9,653,454 - 9,693,917 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X9,503,189 - 9,543,653NCBI
CeleraX13,865,374 - 13,905,925 (-)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX7,525,733 - 7,566,160 (-)NCBIHuRef
CHM1_1X9,723,929 - 9,764,313 (-)NCBICHM1_1
T2T-CHM13v2.0X9,307,982 - 9,361,208 (-)NCBIT2T-CHM13v2.0
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
apical plasma membrane  (IDA,IEA)
cell junction  (IDA)
cytoplasm  (TAS)
Golgi apparatus  (IDA)
lysosomal membrane  (IDA,IEA)
lysosome  (IEA)
melanosome  (IDA)
melanosome membrane  (IBA,IDA,IEA)
membrane  (IEA,TAS)
nuclear body  (IDA)
nucleoplasm  (IDA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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   PMID:33785018   PMID:34346269   PMID:36800996   PMID:37053367   PMID:37394637   PMID:38222445  


Genomics

Comparative Map Data
GPR143
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X9,725,346 - 9,778,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX9,725,346 - 9,786,297 (-)EnsemblGRCh38hg38GRCh38
GRCh37X9,693,386 - 9,733,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X9,653,454 - 9,693,917 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X9,503,189 - 9,543,653NCBI
CeleraX13,865,374 - 13,905,925 (-)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX7,525,733 - 7,566,160 (-)NCBIHuRef
CHM1_1X9,723,929 - 9,764,313 (-)NCBICHM1_1
T2T-CHM13v2.0X9,307,982 - 9,361,208 (-)NCBIT2T-CHM13v2.0
Gpr143
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X151,564,917 - 151,591,647 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX151,564,917 - 151,591,642 (+)EnsemblGRCm39 Ensembl
GRCm38X152,781,921 - 152,808,651 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX152,781,921 - 152,808,646 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X149,216,464 - 149,243,189 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X148,122,702 - 148,149,362 (+)NCBIMGSCv36mm8
CeleraX136,442,756 - 136,469,491 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Gpr143
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X25,498,601 - 25,523,408 (+)NCBIGRCr8
mRatBN7.2X22,002,914 - 22,027,720 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX22,002,914 - 22,027,715 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX22,908,314 - 22,933,122 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X26,329,287 - 26,354,095 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X22,584,854 - 22,609,647 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X23,668,363 - 23,693,162 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX23,668,363 - 23,693,162 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X24,084,931 - 24,109,730 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X42,481,440 - 42,506,239 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X11,528,918 - 11,569,455 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X11,532,585 - 11,573,122 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X2,357,835 - 2,398,389 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X9,609,597 - 9,650,069 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX9,609,598 - 9,650,075 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X6,374,640 - 6,424,234 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX6,357,768 - 6,445,621 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X6,367,596 - 6,415,264 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X6,402,457 - 6,450,986 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X6,395,377 - 6,440,848 (-)NCBIUU_Cfam_GSD_1.0
Gpr143
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049534,141,453 - 4,180,471 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936644196,263 - 235,305 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X8,178,818 - 8,223,291 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX8,179,154 - 8,222,603 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660569,855,363 - 9,896,337 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gpr143
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248347,295,069 - 7,308,920 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248347,281,962 - 7,329,484 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPR143
331 total Variants

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
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs) duplication Ocular albinism, type I [RCV000011260] ChrX:9739670..9739671 [GRCh38]
ChrX:9707710..9707711 [GRCh37]
ChrX:Xp22.2		 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|uncertain significance|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
NM_000273.3(GPR143):c.162_198del (p.Ala55fs) deletion GPR143-related disorder [RCV003398480]|Nystagmus 6, congenital, X-linked [RCV000011270] ChrX:9765620..9765656 [GRCh38]
ChrX:9733660..9733696 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.231_249dup (p.Gly84fs) duplication Nystagmus 6, congenital, X-linked [RCV000011271]|not provided [RCV002512969] ChrX:9765568..9765569 [GRCh38]
ChrX:9733608..9733609 [GRCh37]
ChrX:Xp22.2		 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 Inborn genetic diseases [RCV002514514]|not provided [RCV000084911] ChrX:9765805 [GRCh38]
ChrX:9733845 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic|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		 pathogenic|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 Ocular albinism, type I [RCV002280778]|not provided [RCV000084916] ChrX:9765586..9765602 [GRCh38]
ChrX:9733626..9733642 [GRCh37]
ChrX:Xp22.2		 pathogenic|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		 pathogenic|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		 likely pathogenic|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		 uncertain significance|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		 uncertain significance|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		 likely pathogenic|not provided
NM_000273.3(GPR143):c.360G>A (p.Ala120=) single nucleotide variant Ocular albinism, type I [RCV001824020]|not provided [RCV000084928] ChrX:9760717 [GRCh38]
ChrX:9728757 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic|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		 pathogenic|likely pathogenic|uncertain significance|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		 pathogenic|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 Ocular albinism, type I [RCV002280779]|not provided [RCV000084944] ChrX:9743563..9743576 [GRCh38]
ChrX:9711603..9711616 [GRCh37]
ChrX:Xp22.2		 pathogenic|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		 pathogenic|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		 likely pathogenic|not provided
NM_000273.3(GPR143):c.885+1G>A single nucleotide variant Ocular albinism, type I [RCV001808320]|not provided [RCV000084951] ChrX:9741337 [GRCh38]
ChrX:9709377 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|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		 conflicting interpretations of pathogenicity|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 provided [RCV001513668]|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 Nystagmus 6, congenital, X-linked [RCV001701955]|Ocular albinism, type I [RCV001701887]|not provided [RCV001511112]|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 Inborn genetic diseases [RCV002519291]|not provided [RCV000331439] ChrX:9748581 [GRCh38]
ChrX:9716621 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) deletion Nystagmus [RCV000414936]|Ocular albinism, type I [RCV002291275]|not provided [RCV002521446] ChrX:9765782..9765806 [GRCh38]
ChrX:9733822..9733846 [GRCh37]
ChrX:Xp22.2		 pathogenic|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 Xp22.33-11.21(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 Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [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.695C>T (p.Thr232Met) single nucleotide variant Inborn genetic diseases [RCV002570842]|not provided [RCV001581766] ChrX:9743637 [GRCh38]
ChrX:9711677 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.767+1G>A single nucleotide variant Ocular albinism, type I [RCV001542633] ChrX:9743564 [GRCh38]
ChrX:9711604 [GRCh37]
ChrX:Xp22.2		 likely 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.394T>C (p.Trp132Arg) single nucleotide variant not provided [RCV001568165] ChrX:9759393 [GRCh38]
ChrX:9727433 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000273.3(GPR143):c.731del (p.Ile244fs) deletion Nystagmus 6, congenital, X-linked [RCV000760161]|not provided [RCV002533136] 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
NM_000273.3(GPR143):c.360+236G>A single nucleotide variant not provided [RCV001609253] ChrX:9760481 [GRCh38]
ChrX:9728521 [GRCh37]
ChrX:Xp22.2		 benign
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 Inborn genetic diseases [RCV004029792]|not provided [RCV000948512]|not specified [RCV001356449] ChrX:9739560 [GRCh38]
ChrX:9707600 [GRCh37]
ChrX:Xp22.2		 benign|uncertain significance
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 Inborn genetic diseases [RCV004629386]|not provided [RCV000933133] ChrX:9746047 [GRCh38]
ChrX:9714087 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_000273.3(GPR143):c.685G>C (p.Gly229Arg) single nucleotide variant not provided [RCV003312754] ChrX:9743647 [GRCh38]
ChrX:9711687 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.1120+4A>G single nucleotide variant not provided [RCV000893087]|not specified [RCV001701239] 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
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000273.3(GPR143):c.359C>T (p.Ala120Val) single nucleotide variant not provided [RCV003106520] ChrX:9760718 [GRCh38]
ChrX:9728758 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.349del (p.Val117fs) deletion Nystagmus 6, congenital, X-linked [RCV003236748] ChrX:9760728 [GRCh38]
ChrX:9728768 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.990A>G (p.Glu330=) single nucleotide variant not provided [RCV003107102] ChrX:9739615 [GRCh38]
ChrX:9707655 [GRCh37]
ChrX:Xp22.2		 likely benign
NC_000023.10:g.(?_8501036)_(11318732_?)del deletion not provided [RCV003107483] ChrX:8501036..11318732 [GRCh37]
ChrX:Xp22.31-22.2		 pathogenic
NM_000273.3(GPR143):c.1120+152C>T single nucleotide variant not provided [RCV001638676] ChrX:9739333 [GRCh38]
ChrX:9707373 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.346T>G (p.Cys116Gly) single nucleotide variant Ocular albinism, type I [RCV001542634]|not provided [RCV002032538] ChrX:9760731 [GRCh38]
ChrX:9728771 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.658+220T>C single nucleotide variant not provided [RCV001615975] ChrX:9745824 [GRCh38]
ChrX:9713864 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.250+220C>T single nucleotide variant not provided [RCV001656494] ChrX:9765348 [GRCh38]
ChrX:9733388 [GRCh37]
ChrX:Xp22.2		 benign
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		 conflicting interpretations of pathogenicity|uncertain significance
NM_000273.3(GPR143):c.251-135C>T single nucleotide variant not provided [RCV001720647] ChrX:9760961 [GRCh38]
ChrX:9729001 [GRCh37]
ChrX:Xp22.2		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000273.3(GPR143):c.*134C>T single nucleotide variant not provided [RCV001720655] ChrX:9725612 [GRCh38]
ChrX:9693652 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.548+2T>A single nucleotide variant Ocular albinism, type I [RCV001171312]|not provided [RCV002557472] ChrX:9748572 [GRCh38]
ChrX:9716612 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely 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.360+169G>A single nucleotide variant not provided [RCV001681145] ChrX:9760548 [GRCh38]
ChrX:9728588 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.548+160G>C single nucleotide variant not provided [RCV001682334] ChrX:9748414 [GRCh38]
ChrX:9716454 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr) single nucleotide variant Nystagmus 6, congenital, X-linked [RCV001196371]|not provided [RCV003770203] 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
NM_000273.3(GPR143):c.487G>C (p.Gly163Arg) single nucleotide variant not provided [RCV002002180] ChrX:9748635 [GRCh38]
ChrX:9716675 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 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 Ocular albinism, type I [RCV004690072]|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
NM_000273.3(GPR143):c.1005G>A (p.Ser335=) single nucleotide variant not provided [RCV001515902] ChrX:9739600 [GRCh38]
ChrX:9707640 [GRCh37]
ChrX:Xp22.2		 benign
NC_000023.10:g.(?_8501036)_(11318732_?)dup duplication not provided [RCV001488307] ChrX:8501036..11318732 [GRCh37]
ChrX:Xp22.31-22.2		 likely benign
NM_000273.3(GPR143):c.1031C>T (p.Pro344Leu) single nucleotide variant not provided [RCV001517489] ChrX:9739574 [GRCh38]
ChrX:9707614 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.768-5_768-2dup duplication not provided [RCV001513750] ChrX:9741456..9741457 [GRCh38]
ChrX:9709496..9709497 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.1182T>C (p.Gly394=) single nucleotide variant not provided [RCV001498035] ChrX:9725779 [GRCh38]
ChrX:9693819 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.456-5_463del deletion Ocular albinism, type I [RCV002250915] ChrX:9748659..9748671 [GRCh38]
ChrX:9716699..9716711 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.548+18C>T single nucleotide variant not provided [RCV001416935] ChrX:9748556 [GRCh38]
ChrX:9716596 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.604C>T (p.Leu202=) single nucleotide variant not provided [RCV001446470] ChrX:9746098 [GRCh38]
ChrX:9714138 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.455+3A>G single nucleotide variant not provided [RCV001378632] ChrX:9759329 [GRCh38]
ChrX:9727369 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000273.3(GPR143):c.720C>T (p.Ala240=) single nucleotide variant not provided [RCV001454924] ChrX:9743612 [GRCh38]
ChrX:9711652 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.251-9C>A single nucleotide variant not provided [RCV001497875]|not specified [RCV001820206] ChrX:9760835 [GRCh38]
ChrX:9728875 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_000273.3(GPR143):c.294T>C (p.Phe98=) single nucleotide variant not provided [RCV001727941]|not specified [RCV001699973] ChrX:9760783 [GRCh38]
ChrX:9728823 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_000273.3(GPR143):c.361-2A>C single nucleotide variant Ocular albinism, type I [RCV001591942] ChrX:9759428 [GRCh38]
ChrX:9727468 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.264G>A (p.Arg88=) single nucleotide variant not provided [RCV001518470] ChrX:9760813 [GRCh38]
ChrX:9728853 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.1120+15G>T single nucleotide variant not provided [RCV001513518] ChrX:9739470 [GRCh38]
ChrX:9707510 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.1155A>C (p.Ala385=) single nucleotide variant not provided [RCV001513829] ChrX:9725806 [GRCh38]
ChrX:9693846 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.1193T>C (p.Leu398Pro) single nucleotide variant not provided [RCV001521264] ChrX:9725768 [GRCh38]
ChrX:9693808 [GRCh37]
ChrX:Xp22.2		 benign
GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1 copy number loss See cases [RCV002285049] ChrX:168546..10368820 [GRCh37]
ChrX:Xp22.33-22.2		 pathogenic
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter) single nucleotide variant Ocular albinism, type I [RCV003882738]|not provided [RCV001783397] ChrX:9765745 [GRCh38]
ChrX:9733785 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.360+2T>C single nucleotide variant Ocular albinism, type I [RCV001754544] ChrX:9760715 [GRCh38]
ChrX:9728755 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.348C>G (p.Cys116Trp) single nucleotide variant not provided [RCV001756686] ChrX:9760729 [GRCh38]
ChrX:9728769 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000273.3(GPR143):c.886-2A>T single nucleotide variant GPR143-related disorder [RCV003401740]|not provided [RCV001817694] ChrX:9739721 [GRCh38]
ChrX:9707761 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.256_257delinsA (p.Val86fs) indel not provided [RCV001817784] ChrX:9760820..9760821 [GRCh38]
ChrX:9728860..9728861 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1078G>A (p.Gly360Ser) single nucleotide variant GPR143-related disorder [RCV003418230]|Inborn genetic diseases [RCV003170060]|not provided [RCV001950638] ChrX:9739527 [GRCh38]
ChrX:9707567 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.623C>T (p.Ala208Val) single nucleotide variant Inborn genetic diseases [RCV002562234]|not provided [RCV001967807] ChrX:9746079 [GRCh38]
ChrX:9714119 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.31-22.2(chrX:9453761-10037284) copy number gain not specified [RCV002052773] ChrX:9453761..10037284 [GRCh37]
ChrX:Xp22.31-22.2		 uncertain significance
NM_000273.3(GPR143):c.751C>G (p.Leu251Val) single nucleotide variant Inborn genetic diseases [RCV002545427]|not provided [RCV002044723] ChrX:9743581 [GRCh38]
ChrX:9711621 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.25T>C (p.Phe9Leu) single nucleotide variant not provided [RCV002045671] ChrX:9765793 [GRCh38]
ChrX:9733833 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.361-1G>T single nucleotide variant not provided [RCV002020830] ChrX:9759427 [GRCh38]
ChrX:9727467 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.239T>C (p.Leu80Pro) single nucleotide variant not provided [RCV002024390] ChrX:9765579 [GRCh38]
ChrX:9733619 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.262C>T (p.Arg88Trp) single nucleotide variant not provided [RCV002008801] ChrX:9760815 [GRCh38]
ChrX:9728855 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9693786)_(9707779_?)del deletion not provided [RCV001874728] ChrX:9693786..9707779 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1203T>G (p.His401Gln) single nucleotide variant not provided [RCV001965241] ChrX:9725758 [GRCh38]
ChrX:9693798 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.176C>A (p.Ser59Tyr) single nucleotide variant not provided [RCV002025820] ChrX:9765642 [GRCh38]
ChrX:9733682 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.271G>A (p.Val91Met) single nucleotide variant not provided [RCV001929358] ChrX:9760806 [GRCh38]
ChrX:9728846 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.721G>A (p.Val241Met) single nucleotide variant not provided [RCV001965883] ChrX:9743611 [GRCh38]
ChrX:9711651 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000273.3(GPR143):c.658+1G>T single nucleotide variant not provided [RCV001982957] ChrX:9746043 [GRCh38]
ChrX:9714083 [GRCh37]
ChrX:Xp22.2		 pathogenic
GRCh37/hg19 Xp22.2(chrX:9526839-10058627) copy number gain not specified [RCV002052774] ChrX:9526839..10058627 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.768-2_769del deletion not provided [RCV002022579] ChrX:9741454..9741457 [GRCh38]
ChrX:9709494..9709497 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic
NM_000273.3(GPR143):c.52_59dup (p.Val21fs) duplication not provided [RCV001946615] ChrX:9765758..9765759 [GRCh38]
ChrX:9733798..9733799 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.310G>A (p.Asp104Asn) single nucleotide variant not provided [RCV002043919] ChrX:9760767 [GRCh38]
ChrX:9728807 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.552dup (p.Glu185Ter) duplication not provided [RCV001909688] ChrX:9746149..9746150 [GRCh38]
ChrX:9714189..9714190 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.231_249del (p.Cys77fs) deletion not provided [RCV001964903] ChrX:9765569..9765587 [GRCh38]
ChrX:9733609..9733627 [GRCh37]
ChrX:Xp22.2		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_000273.3(GPR143):c.613G>T (p.Val205Phe) single nucleotide variant not provided [RCV002022053] ChrX:9746089 [GRCh38]
ChrX:9714129 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.887G>T (p.Gly296Val) single nucleotide variant not provided [RCV001948602] ChrX:9739718 [GRCh38]
ChrX:9707758 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1151C>T (p.Thr384Ile) single nucleotide variant not provided [RCV002020358] ChrX:9725810 [GRCh38]
ChrX:9693850 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.885+748G>A single nucleotide variant not provided [RCV001909814] ChrX:9740590 [GRCh38]
ChrX:9708630 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.172G>A (p.Gly58Arg) single nucleotide variant not provided [RCV001966220] ChrX:9765646 [GRCh38]
ChrX:9733686 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9679631)_(9716726_?)del deletion not provided [RCV001972625] ChrX:9679631..9716726 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9711585)_(9733857_?)del deletion not provided [RCV001963288] ChrX:9711585..9733857 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.250+1G>T single nucleotide variant not provided [RCV002001209] ChrX:9765567 [GRCh38]
ChrX:9733607 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.1060G>A (p.Gly354Arg) single nucleotide variant not provided [RCV001961965] ChrX:9739545 [GRCh38]
ChrX:9707585 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.445G>A (p.Ala149Thr) single nucleotide variant not provided [RCV002000461] ChrX:9759342 [GRCh38]
ChrX:9727382 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1088C>A (p.Thr363Asn) single nucleotide variant not provided [RCV001942405] ChrX:9739517 [GRCh38]
ChrX:9707557 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.308C>G (p.Ser103Trp) single nucleotide variant not provided [RCV001963420] ChrX:9760769 [GRCh38]
ChrX:9728809 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.126_132del (p.Leu43fs) deletion not provided [RCV001999804] ChrX:9765686..9765692 [GRCh38]
ChrX:9733726..9733732 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.664T>C (p.Ser222Pro) single nucleotide variant not provided [RCV001992769] ChrX:9743668 [GRCh38]
ChrX:9711708 [GRCh37]
ChrX:Xp22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000273.3(GPR143):c.443C>T (p.Ser148Leu) single nucleotide variant not provided [RCV001979235] ChrX:9759344 [GRCh38]
ChrX:9727384 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9707505)_(9728886_?)del deletion not provided [RCV001942065] ChrX:9707505..9728886 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter) single nucleotide variant not provided [RCV001879542] ChrX:9743650 [GRCh38]
ChrX:9711690 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.767+3_767+4insTATTAATAATTTAATTATT insertion not provided [RCV001888867] ChrX:9743561..9743562 [GRCh38]
ChrX:9711601..9711602 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.363G>A (p.Met121Ile) single nucleotide variant Inborn genetic diseases [RCV002556403]|not provided [RCV001930595] ChrX:9759424 [GRCh38]
ChrX:9727464 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.885+2T>G single nucleotide variant not provided [RCV002029231] ChrX:9741336 [GRCh38]
ChrX:9709376 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.691T>C (p.Tyr231His) single nucleotide variant not provided [RCV002012879] ChrX:9743641 [GRCh38]
ChrX:9711681 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9711585)_(9711844_?)del deletion not provided [RCV001975253] ChrX:9711585..9711844 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.134T>C (p.Leu45Pro) single nucleotide variant Inborn genetic diseases [RCV004043010]|not provided [RCV001957701] ChrX:9765684 [GRCh38]
ChrX:9733724 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.896A>C (p.Asn299Thr) single nucleotide variant not provided [RCV001921883] ChrX:9739709 [GRCh38]
ChrX:9707749 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.325G>A (p.Glu109Lys) single nucleotide variant not provided [RCV001902138] ChrX:9760752 [GRCh38]
ChrX:9728792 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.878_885+2del deletion not provided [RCV001864769] ChrX:9741336..9741345 [GRCh38]
ChrX:9709376..9709385 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.237_239del (p.Leu80del) deletion not provided [RCV001881198] ChrX:9765579..9765581 [GRCh38]
ChrX:9733619..9733621 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|uncertain significance
NM_000273.3(GPR143):c.241G>T (p.Gly81Cys) single nucleotide variant not provided [RCV001864791]|not specified [RCV004526153] ChrX:9765577 [GRCh38]
ChrX:9733617 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.597C>A (p.Tyr199Ter) single nucleotide variant not provided [RCV001934135] ChrX:9746105 [GRCh38]
ChrX:9714145 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.347G>A (p.Cys116Tyr) single nucleotide variant not provided [RCV002028825] ChrX:9760730 [GRCh38]
ChrX:9728770 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.187_188del (p.Ser63fs) deletion not provided [RCV001974527] ChrX:9765630..9765631 [GRCh38]
ChrX:9733670..9733671 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) single nucleotide variant Ocular albinism, type I [RCV002482481]|not provided [RCV001878234] ChrX:9765627 [GRCh38]
ChrX:9733667 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.442del (p.Ser148fs) deletion not provided [RCV001993364] ChrX:9759345 [GRCh38]
ChrX:9727385 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.885+4G>A single nucleotide variant not provided [RCV001878396] ChrX:9741334 [GRCh38]
ChrX:9709374 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.245G>A (p.Cys82Tyr) single nucleotide variant not provided [RCV001991986] ChrX:9765573 [GRCh38]
ChrX:9733613 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1139T>C (p.Ile380Thr) single nucleotide variant not provided [RCV001976533] ChrX:9725822 [GRCh38]
ChrX:9693862 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.908G>T (p.Gly303Val) single nucleotide variant not provided [RCV002018279] ChrX:9739697 [GRCh38]
ChrX:9707737 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.862G>C (p.Ala288Pro) single nucleotide variant not provided [RCV001920815] ChrX:9741361 [GRCh38]
ChrX:9709401 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.619G>A (p.Val207Met) single nucleotide variant not provided [RCV002012076] ChrX:9746083 [GRCh38]
ChrX:9714123 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.276G>T (p.Trp92Cys) single nucleotide variant Inborn genetic diseases [RCV003348684]|not provided [RCV001992933] ChrX:9760801 [GRCh38]
ChrX:9728841 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.175T>G (p.Ser59Ala) single nucleotide variant not provided [RCV001918535] ChrX:9765643 [GRCh38]
ChrX:9733683 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.709A>G (p.Arg237Gly) single nucleotide variant not provided [RCV001879581] ChrX:9743623 [GRCh38]
ChrX:9711663 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.520_521insTACTACCCTT (p.Ala174fs) insertion not provided [RCV001932125] ChrX:9748601..9748602 [GRCh38]
ChrX:9716641..9716642 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.886-115_970del deletion not provided [RCV001990920] ChrX:9739635..9739834 [GRCh38]
ChrX:9707675..9707874 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.733C>T (p.Arg245Ter) single nucleotide variant not provided [RCV002049530] ChrX:9743599 [GRCh38]
ChrX:9711639 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9733588)_(9733857_?)del deletion not provided [RCV001958915] ChrX:9733588..9733857 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1030C>A (p.Pro344Thr) single nucleotide variant not provided [RCV001981379] ChrX:9739575 [GRCh38]
ChrX:9707615 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002035439] ChrX:9765817 [GRCh38]
ChrX:9733857 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.115C>T (p.Leu39Phe) single nucleotide variant not provided [RCV001996681] ChrX:9765703 [GRCh38]
ChrX:9733743 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.570C>G (p.His190Gln) single nucleotide variant not provided [RCV001867000] ChrX:9746132 [GRCh38]
ChrX:9714172 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9707505)_(9733857_?)del deletion not provided [RCV001925085] ChrX:9707505..9733857 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.356G>A (p.Ser119Asn) single nucleotide variant Inborn genetic diseases [RCV002556362]|not provided [RCV001926027] ChrX:9760721 [GRCh38]
ChrX:9728761 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.470A>G (p.Tyr157Cys) single nucleotide variant not provided [RCV001877386] ChrX:9748652 [GRCh38]
ChrX:9716692 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.323C>T (p.Thr108Met) single nucleotide variant not provided [RCV002049915] ChrX:9760754 [GRCh38]
ChrX:9728794 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.455+5T>C single nucleotide variant GPR143-related disorder [RCV004744199]|not provided [RCV002033580] ChrX:9759327 [GRCh38]
ChrX:9727367 [GRCh37]
ChrX:Xp22.2		 likely benign|uncertain significance
NM_000273.3(GPR143):c.81G>A (p.Arg27=) single nucleotide variant not provided [RCV002126400] ChrX:9765737 [GRCh38]
ChrX:9733777 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.540C>T (p.Ser180=) single nucleotide variant not provided [RCV002190593] ChrX:9748582 [GRCh38]
ChrX:9716622 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.777G>A (p.Ser259=) single nucleotide variant not provided [RCV002207224] ChrX:9741446 [GRCh38]
ChrX:9709486 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.117C>G (p.Leu39=) single nucleotide variant not provided [RCV002072773] ChrX:9765701 [GRCh38]
ChrX:9733741 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.455+9C>T single nucleotide variant not provided [RCV002124733] ChrX:9759323 [GRCh38]
ChrX:9727363 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.996G>C (p.Leu332=) single nucleotide variant not provided [RCV002149026] ChrX:9739609 [GRCh38]
ChrX:9707649 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.548+2T>C single nucleotide variant Ocular albinism, type I [RCV002086747] ChrX:9748572 [GRCh38]
ChrX:9716612 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.455+20G>A single nucleotide variant not provided [RCV002129771] ChrX:9759312 [GRCh38]
ChrX:9727352 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.251-12A>G single nucleotide variant not provided [RCV002186994] ChrX:9760838 [GRCh38]
ChrX:9728878 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.792A>G (p.Glu264=) single nucleotide variant not provided [RCV002110929] ChrX:9741431 [GRCh38]
ChrX:9709471 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.648A>G (p.Thr216=) single nucleotide variant not provided [RCV002187155] ChrX:9746054 [GRCh38]
ChrX:9714094 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.933C>T (p.Tyr311=) single nucleotide variant not provided [RCV002109599] ChrX:9739672 [GRCh38]
ChrX:9707712 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.250+16G>A single nucleotide variant not provided [RCV002108381] ChrX:9765552 [GRCh38]
ChrX:9733592 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.1113G>C (p.Leu371=) single nucleotide variant not provided [RCV002174758] ChrX:9739492 [GRCh38]
ChrX:9707532 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.447A>C (p.Ala149=) single nucleotide variant not provided [RCV002133897] ChrX:9759340 [GRCh38]
ChrX:9727380 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.309G>A (p.Ser103=) single nucleotide variant not provided [RCV002134378] ChrX:9760768 [GRCh38]
ChrX:9728808 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.702C>T (p.Asn234=) single nucleotide variant not provided [RCV002117244] ChrX:9743630 [GRCh38]
ChrX:9711670 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.696G>A (p.Thr232=) single nucleotide variant not provided [RCV002169129] ChrX:9743636 [GRCh38]
ChrX:9711676 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.659-12T>C single nucleotide variant not provided [RCV002208437] ChrX:9743685 [GRCh38]
ChrX:9711725 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.360+7C>T single nucleotide variant not provided [RCV002190559] ChrX:9760710 [GRCh38]
ChrX:9728750 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.444G>A (p.Ser148=) single nucleotide variant GPR143-related disorder [RCV003984175]|not provided [RCV002194857] ChrX:9759343 [GRCh38]
ChrX:9727383 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.950G>T (p.Ser317Ile) single nucleotide variant not provided [RCV002213783] ChrX:9739655 [GRCh38]
ChrX:9707695 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.360+13C>A single nucleotide variant not provided [RCV002124463] ChrX:9760704 [GRCh38]
ChrX:9728744 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.192G>A (p.Pro64=) single nucleotide variant not provided [RCV002076740] ChrX:9765626 [GRCh38]
ChrX:9733666 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.222C>T (p.Ala74=) single nucleotide variant not provided [RCV002193451] ChrX:9765596 [GRCh38]
ChrX:9733636 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.767+10C>T single nucleotide variant not provided [RCV002150128] ChrX:9743555 [GRCh38]
ChrX:9711595 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.456-8T>C single nucleotide variant not provided [RCV002174565] ChrX:9748674 [GRCh38]
ChrX:9716714 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.361-8G>A single nucleotide variant not provided [RCV002110347] ChrX:9759434 [GRCh38]
ChrX:9727474 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.111C>A (p.Gly37=) single nucleotide variant not provided [RCV002093941] ChrX:9765707 [GRCh38]
ChrX:9733747 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.651G>C (p.Val217=) single nucleotide variant not provided [RCV002198220] ChrX:9746051 [GRCh38]
ChrX:9714091 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.270C>T (p.Thr90=) single nucleotide variant not provided [RCV002084025] ChrX:9760807 [GRCh38]
ChrX:9728847 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.333G>C (p.Trp111Cys) single nucleotide variant not provided [RCV002144268] ChrX:9760744 [GRCh38]
ChrX:9728784 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.9C>T (p.Ser3=) single nucleotide variant not provided [RCV002083378] ChrX:9765809 [GRCh38]
ChrX:9733849 [GRCh37]
ChrX:Xp22.2		 benign
NM_000273.3(GPR143):c.1120+20A>G single nucleotide variant not provided [RCV002083461] ChrX:9739465 [GRCh38]
ChrX:9707505 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.281G>C (p.Gly94Ala) single nucleotide variant Inborn genetic diseases [RCV004046993]|not provided [RCV002143929] ChrX:9760796 [GRCh38]
ChrX:9728836 [GRCh37]
ChrX:Xp22.2		 benign|uncertain significance
NM_000273.3(GPR143):c.1080T>C (p.Gly360=) single nucleotide variant not provided [RCV002144251] ChrX:9739525 [GRCh38]
ChrX:9707565 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.723G>A (p.Val241=) single nucleotide variant not provided [RCV002119342] ChrX:9743609 [GRCh38]
ChrX:9711649 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.159G>A (p.Arg53=) single nucleotide variant not provided [RCV002161121] ChrX:9765659 [GRCh38]
ChrX:9733699 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.237T>A (p.Leu79=) single nucleotide variant not provided [RCV002161176] ChrX:9765581 [GRCh38]
ChrX:9733621 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.767+9T>A single nucleotide variant not provided [RCV002098271] ChrX:9743556 [GRCh38]
ChrX:9711596 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.251-15C>A single nucleotide variant not provided [RCV002159887] ChrX:9760841 [GRCh38]
ChrX:9728881 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.459C>T (p.Thr153=) single nucleotide variant not provided [RCV002098855] ChrX:9748663 [GRCh38]
ChrX:9716703 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.189C>G (p.Ser63=) single nucleotide variant not provided [RCV002104208] ChrX:9765629 [GRCh38]
ChrX:9733669 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.273G>A (p.Val91=) single nucleotide variant not provided [RCV002183545] ChrX:9760804 [GRCh38]
ChrX:9728844 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.556C>T (p.Arg186Trp) single nucleotide variant not provided [RCV002175226] ChrX:9746146 [GRCh38]
ChrX:9714186 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely benign
NM_000273.3(GPR143):c.455+13G>A single nucleotide variant not provided [RCV002180959] ChrX:9759319 [GRCh38]
ChrX:9727359 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.519C>T (p.Ala173=) single nucleotide variant not provided [RCV002197903] ChrX:9748603 [GRCh38]
ChrX:9716643 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.250+14C>G single nucleotide variant not provided [RCV002098319] ChrX:9765554 [GRCh38]
ChrX:9733594 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_000273.3(GPR143):c.456-9G>A single nucleotide variant not provided [RCV002179563] ChrX:9748675 [GRCh38]
ChrX:9716715 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.723G>C (p.Val241=) single nucleotide variant not provided [RCV002123729] ChrX:9743609 [GRCh38]
ChrX:9711649 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.1035G>A (p.Leu345=) single nucleotide variant not provided [RCV002198558] ChrX:9739570 [GRCh38]
ChrX:9707610 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.303C>T (p.Ser101=) single nucleotide variant not provided [RCV002184807] ChrX:9760774 [GRCh38]
ChrX:9728814 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.398G>A (p.Trp133Ter) single nucleotide variant not provided [RCV003110230] ChrX:9759389 [GRCh38]
ChrX:9727429 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9621627)_(9751474_?)del deletion not provided [RCV003109310] ChrX:9621627..9751474 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9621627)_(9751474_?)dup duplication not provided [RCV003109311] ChrX:9621627..9751474 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9728737)_(9728886_?)del deletion not provided [RCV003109312] ChrX:9728737..9728886 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9714064)_(9716726_?)del deletion not provided [RCV003109313] ChrX:9714064..9716726 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9621627)_(9728886_?)dup duplication not provided [RCV003109314] ChrX:9621627..9728886 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9733845)_(9735025_?)del deletion not provided [RCV003109315] ChrX:9733845..9735025 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9707852)_(9714100_?)del deletion not provided [RCV003109316] ChrX:9707852..9714100 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.482C>T (p.Ala161Val) single nucleotide variant not provided [RCV003110277] ChrX:9748640 [GRCh38]
ChrX:9716680 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1059C>T (p.Ser353=) single nucleotide variant GPR143-related disorder [RCV003946425]|not provided [RCV003111921] ChrX:9739546 [GRCh38]
ChrX:9707586 [GRCh37]
ChrX:Xp22.2		 benign|likely benign
NM_000273.3(GPR143):c.736T>A (p.Phe246Ile) single nucleotide variant not provided [RCV004795082] ChrX:9743596 [GRCh38]
ChrX:9711636 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1 copy number loss See cases [RCV002286358] ChrX:168546..11080743 [GRCh37]
ChrX:Xp22.33-22.2		 pathogenic
NM_000273.3(GPR143):c.553G>A (p.Glu185Lys) single nucleotide variant not specified [RCV003236402] ChrX:9746149 [GRCh38]
ChrX:9714189 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.131G>A (p.Gly44Asp) single nucleotide variant Nystagmus 6, congenital, X-linked [RCV002289351]|not provided [RCV002300680] ChrX:9765687 [GRCh38]
ChrX:9733727 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.248T>C (p.Leu83Pro) single nucleotide variant not specified [RCV003236401] ChrX:9765570 [GRCh38]
ChrX:9733610 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.352G>A (p.Gly118Arg) single nucleotide variant not provided [RCV002265367] ChrX:9760725 [GRCh38]
ChrX:9728765 [GRCh37]
ChrX:Xp22.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000273.3(GPR143):c.36del (p.Thr13fs) deletion Ocular albinism, type I [RCV002472047] ChrX:9765782 [GRCh38]
ChrX:9733822 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.385G>A (p.Ala129Thr) single nucleotide variant not provided [RCV002771349] ChrX:9759402 [GRCh38]
ChrX:9727442 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.194C>T (p.Pro65Leu) single nucleotide variant Inborn genetic diseases [RCV003005858]|not provided [RCV002991367] ChrX:9765624 [GRCh38]
ChrX:9733664 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.75G>C (p.Gln25His) single nucleotide variant not provided [RCV002464885] ChrX:9765743 [GRCh38]
ChrX:9733783 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2 copy number gain not provided [RCV002474523] ChrX:2703633..14515021 [GRCh37]
ChrX:Xp22.33-22.2		 pathogenic
NM_000273.3(GPR143):c.334C>A (p.Pro112Thr) single nucleotide variant not provided [RCV002298182] ChrX:9760743 [GRCh38]
ChrX:9728783 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.24del (p.Phe9fs) deletion not provided [RCV003012318] ChrX:9765794 [GRCh38]
ChrX:9733834 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.360+3G>C single nucleotide variant not provided [RCV002858318] ChrX:9760714 [GRCh38]
ChrX:9728754 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.767+17A>G single nucleotide variant not provided [RCV002685643] ChrX:9743548 [GRCh38]
ChrX:9711588 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.112G>A (p.Gly38Arg) single nucleotide variant not provided [RCV002816697] ChrX:9765706 [GRCh38]
ChrX:9733746 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.455+1G>A single nucleotide variant not provided [RCV002842892] ChrX:9759331 [GRCh38]
ChrX:9727371 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.125C>T (p.Ala42Val) single nucleotide variant not provided [RCV003034131] ChrX:9765693 [GRCh38]
ChrX:9733733 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.407G>A (p.Cys136Tyr) single nucleotide variant not provided [RCV003015633] ChrX:9759380 [GRCh38]
ChrX:9727420 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.885+8A>T single nucleotide variant not provided [RCV002904382] ChrX:9741330 [GRCh38]
ChrX:9709370 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.647C>T (p.Thr216Ile) single nucleotide variant not provided [RCV002727084] ChrX:9746055 [GRCh38]
ChrX:9714095 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1156A>G (p.Ser386Gly) single nucleotide variant GPR143-related disorder [RCV003403985]|not provided [RCV002975345] ChrX:9725805 [GRCh38]
ChrX:9693845 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.360+16C>T single nucleotide variant not provided [RCV002880468] ChrX:9760701 [GRCh38]
ChrX:9728741 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.26T>G (p.Phe9Cys) single nucleotide variant Inborn genetic diseases [RCV002976770] ChrX:9765792 [GRCh38]
ChrX:9733832 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.437G>A (p.Arg146Gln) single nucleotide variant not provided [RCV002663177] ChrX:9759350 [GRCh38]
ChrX:9727390 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.139C>T (p.Gln47Ter) single nucleotide variant not provided [RCV003036121] ChrX:9765679 [GRCh38]
ChrX:9733719 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1171A>G (p.Lys391Glu) single nucleotide variant not provided [RCV003054369] ChrX:9725790 [GRCh38]
ChrX:9693830 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.790G>A (p.Glu264Lys) single nucleotide variant not provided [RCV003019954] ChrX:9741433 [GRCh38]
ChrX:9709473 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.330T>C (p.Ile110=) single nucleotide variant not provided [RCV003020571] ChrX:9760747 [GRCh38]
ChrX:9728787 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.456-7C>A single nucleotide variant not provided [RCV002867278] ChrX:9748673 [GRCh38]
ChrX:9716713 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.100C>T (p.Leu34=) single nucleotide variant GPR143-related disorder [RCV003943494]|not provided [RCV002780187] ChrX:9765718 [GRCh38]
ChrX:9733758 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.835G>A (p.Gly279Ser) single nucleotide variant Inborn genetic diseases [RCV002925861] ChrX:9741388 [GRCh38]
ChrX:9709428 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.256G>C (p.Val86Leu) single nucleotide variant not provided [RCV003036881] ChrX:9760821 [GRCh38]
ChrX:9728861 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.170C>T (p.Pro57Leu) single nucleotide variant not provided [RCV003036120] ChrX:9765648 [GRCh38]
ChrX:9733688 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.938G>A (p.Trp313Ter) single nucleotide variant GPR143-related foveal hypoplasia [RCV004786817]|not provided [RCV003079242] ChrX:9739667 [GRCh38]
ChrX:9707707 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.776C>T (p.Ser259Leu) single nucleotide variant not provided [RCV002948839] ChrX:9741447 [GRCh38]
ChrX:9709487 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.263G>A (p.Arg88Gln) single nucleotide variant not provided [RCV002621827] ChrX:9760814 [GRCh38]
ChrX:9728854 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.217G>T (p.Ala73Ser) single nucleotide variant not provided [RCV002885767] ChrX:9765601 [GRCh38]
ChrX:9733641 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1157G>A (p.Ser386Asn) single nucleotide variant Inborn genetic diseases [RCV002952355]|not provided [RCV002928594] ChrX:9725804 [GRCh38]
ChrX:9693844 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.304G>A (p.Val102Ile) single nucleotide variant not provided [RCV002662491] ChrX:9760773 [GRCh38]
ChrX:9728813 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.32del (p.Cys11fs) deletion not provided [RCV003053674] ChrX:9765786 [GRCh38]
ChrX:9733826 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.656C>T (p.Ala219Val) single nucleotide variant not provided [RCV002999860] ChrX:9746046 [GRCh38]
ChrX:9714086 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.511G>T (p.Glu171Ter) single nucleotide variant not provided [RCV003038696] ChrX:9748611 [GRCh38]
ChrX:9716651 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.992C>T (p.Ser331Leu) single nucleotide variant not provided [RCV003055273] ChrX:9739613 [GRCh38]
ChrX:9707653 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.584A>G (p.Tyr195Cys) single nucleotide variant Inborn genetic diseases [RCV002886734] ChrX:9746118 [GRCh38]
ChrX:9714158 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.162_198dup (p.Ser67fs) duplication not provided [RCV002797160] ChrX:9765619..9765620 [GRCh38]
ChrX:9733659..9733660 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.504C>G (p.Leu168=) single nucleotide variant not provided [RCV002639039] ChrX:9748618 [GRCh38]
ChrX:9716658 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.768-9T>G single nucleotide variant not provided [RCV002876548] ChrX:9741464 [GRCh38]
ChrX:9709504 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.549-9C>T single nucleotide variant not provided [RCV002711746] ChrX:9746162 [GRCh38]
ChrX:9714202 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.214C>A (p.Arg72Ser) single nucleotide variant not provided [RCV002627258] ChrX:9765604 [GRCh38]
ChrX:9733644 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.767+15AT[2] microsatellite not provided [RCV002745800] ChrX:9743545..9743546 [GRCh38]
ChrX:9711585..9711586 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.623C>A (p.Ala208Glu) single nucleotide variant not provided [RCV003085977] ChrX:9746079 [GRCh38]
ChrX:9714119 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.361-1G>A single nucleotide variant not provided [RCV003006015] ChrX:9759427 [GRCh38]
ChrX:9727467 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.251-9C>T single nucleotide variant not provided [RCV002891211] ChrX:9760835 [GRCh38]
ChrX:9728875 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.886-10C>T single nucleotide variant GPR143-related disorder [RCV003906450]|not provided [RCV003041532] ChrX:9739729 [GRCh38]
ChrX:9707769 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.41G>A (p.Arg14Gln) single nucleotide variant not provided [RCV002766107] ChrX:9765777 [GRCh38]
ChrX:9733817 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.858T>C (p.Thr286=) single nucleotide variant not provided [RCV003023273] ChrX:9741365 [GRCh38]
ChrX:9709405 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.1121-4C>G single nucleotide variant not provided [RCV003058053] ChrX:9725844 [GRCh38]
ChrX:9693884 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.396G>A (p.Trp132Ter) single nucleotide variant not provided [RCV002851656] ChrX:9759391 [GRCh38]
ChrX:9727431 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1067T>C (p.Val356Ala) single nucleotide variant not provided [RCV002572970] ChrX:9739538 [GRCh38]
ChrX:9707578 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.742A>T (p.Lys248Ter) single nucleotide variant not provided [RCV002957893] ChrX:9743590 [GRCh38]
ChrX:9711630 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.181G>A (p.Ala61Thr) single nucleotide variant Inborn genetic diseases [RCV002709529] ChrX:9765637 [GRCh38]
ChrX:9733677 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.766del (p.Cys256fs) deletion not provided [RCV002919083] ChrX:9743566 [GRCh38]
ChrX:9711606 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.232G>T (p.Asp78Tyr) single nucleotide variant not provided [RCV002801099] ChrX:9765586 [GRCh38]
ChrX:9733626 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.348C>A (p.Cys116Ter) single nucleotide variant not provided [RCV003022423] ChrX:9760729 [GRCh38]
ChrX:9728769 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.349G>A (p.Val117Met) single nucleotide variant Inborn genetic diseases [RCV002933910]|not provided [RCV002957269] ChrX:9760728 [GRCh38]
ChrX:9728768 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.610C>T (p.Leu204=) single nucleotide variant not provided [RCV003007519] ChrX:9746092 [GRCh38]
ChrX:9714132 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.348C>T (p.Cys116=) single nucleotide variant not provided [RCV003091836] ChrX:9760729 [GRCh38]
ChrX:9728769 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.616C>T (p.Leu206Phe) single nucleotide variant not provided [RCV003048859] ChrX:9746086 [GRCh38]
ChrX:9714126 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.396G>T (p.Trp132Cys) single nucleotide variant not provided [RCV003031608] ChrX:9759391 [GRCh38]
ChrX:9727431 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.500T>G (p.Leu167Arg) single nucleotide variant not provided [RCV002630794] ChrX:9748622 [GRCh38]
ChrX:9716662 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.80G>C (p.Arg27Pro) single nucleotide variant not provided [RCV003027222] ChrX:9765738 [GRCh38]
ChrX:9733778 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1192C>T (p.Leu398Phe) single nucleotide variant not provided [RCV002578352] ChrX:9725769 [GRCh38]
ChrX:9693809 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.987G>A (p.Trp329Ter) single nucleotide variant not provided [RCV002833355] ChrX:9739618 [GRCh38]
ChrX:9707658 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.354G>A (p.Gly118=) single nucleotide variant not provided [RCV002597694] ChrX:9760723 [GRCh38]
ChrX:9728763 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.250+20G>A single nucleotide variant not provided [RCV002717160] ChrX:9765548 [GRCh38]
ChrX:9733588 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.174G>A (p.Gly58=) single nucleotide variant not provided [RCV002898675] ChrX:9765644 [GRCh38]
ChrX:9733684 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.8C>T (p.Ser3Phe) single nucleotide variant not provided [RCV002716629] ChrX:9765810 [GRCh38]
ChrX:9733850 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.297T>C (p.Val99=) single nucleotide variant not provided [RCV002959193] ChrX:9760780 [GRCh38]
ChrX:9728820 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.627C>A (p.Asn209Lys) single nucleotide variant not provided [RCV003011545] ChrX:9746075 [GRCh38]
ChrX:9714115 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.906G>A (p.Gln302=) single nucleotide variant not provided [RCV002577558] ChrX:9739699 [GRCh38]
ChrX:9707739 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.703G>A (p.Glu235Lys) single nucleotide variant not provided [RCV003064669] ChrX:9743629 [GRCh38]
ChrX:9711669 [GRCh37]
ChrX:Xp22.2		 pathogenic|likely pathogenic
NM_000273.3(GPR143):c.606G>T (p.Leu202=) single nucleotide variant not provided [RCV002649459] ChrX:9746096 [GRCh38]
ChrX:9714136 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.859G>A (p.Ala287Thr) single nucleotide variant not provided [RCV002791769] ChrX:9741364 [GRCh38]
ChrX:9709404 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.357T>C (p.Ser119=) single nucleotide variant not provided [RCV003028693] ChrX:9760720 [GRCh38]
ChrX:9728760 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.98G>T (p.Cys33Phe) single nucleotide variant not provided [RCV002856246] ChrX:9765720 [GRCh38]
ChrX:9733760 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.824A>G (p.Asp275Gly) single nucleotide variant not provided [RCV002628284] ChrX:9741399 [GRCh38]
ChrX:9709439 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1095C>T (p.Asp365=) single nucleotide variant not provided [RCV002602362] ChrX:9739510 [GRCh38]
ChrX:9707550 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.345C>G (p.Phe115Leu) single nucleotide variant Inborn genetic diseases [RCV002713939] ChrX:9760732 [GRCh38]
ChrX:9728772 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1120+9_1120+10del deletion not provided [RCV002658360] ChrX:9739475..9739476 [GRCh38]
ChrX:9707515..9707516 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.1092T>C (p.Ser364=) single nucleotide variant not provided [RCV002634989] ChrX:9739513 [GRCh38]
ChrX:9707553 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.436C>T (p.Arg146Trp) single nucleotide variant not provided [RCV002611609] ChrX:9759351 [GRCh38]
ChrX:9727391 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.483G>A (p.Ala161=) single nucleotide variant not provided [RCV002658159] ChrX:9748639 [GRCh38]
ChrX:9716679 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.3G>T (p.Met1Ile) single nucleotide variant GPR143-related disorder [RCV003393049] ChrX:9765815 [GRCh38]
ChrX:9733855 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.659-1G>A single nucleotide variant not provided [RCV003223327] ChrX:9743674 [GRCh38]
ChrX:9711714 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.770G>T (p.Trp257Leu) single nucleotide variant not provided [RCV003221734] ChrX:9741453 [GRCh38]
ChrX:9709493 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0 copy number loss Ocular albinism, type I [RCV003329556] ChrX:9702717..9709328 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1145T>A (p.Ile382Asn) single nucleotide variant not provided [RCV003569352] ChrX:9725816 [GRCh38]
ChrX:9693856 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.549-4T>G single nucleotide variant not provided [RCV003875428] ChrX:9746157 [GRCh38]
ChrX:9714197 [GRCh37]
ChrX:Xp22.2		 likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_000273.3(GPR143):c.544T>G (p.Ser182Ala) single nucleotide variant GPR143-related disorder [RCV003406065] ChrX:9748578 [GRCh38]
ChrX:9716618 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 copy number gain not provided [RCV003483939] ChrX:168547..30774453 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
NM_000273.3(GPR143):c.17T>G (p.Leu6Arg) single nucleotide variant GPR143-related disorder [RCV003392803] ChrX:9765801 [GRCh38]
ChrX:9733841 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.517G>C (p.Ala173Pro) single nucleotide variant GPR143-related disorder [RCV003416885] ChrX:9748605 [GRCh38]
ChrX:9716645 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.422C>G (p.Ala141Gly) single nucleotide variant not provided [RCV003572630] ChrX:9759365 [GRCh38]
ChrX:9727405 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.360+15T>C single nucleotide variant not provided [RCV003693417] ChrX:9760702 [GRCh38]
ChrX:9728742 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.582C>G (p.His194Gln) single nucleotide variant not provided [RCV003544870] ChrX:9746120 [GRCh38]
ChrX:9714160 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.614T>C (p.Val205Ala) single nucleotide variant not provided [RCV003830318] ChrX:9746088 [GRCh38]
ChrX:9714128 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.361-6T>A single nucleotide variant not provided [RCV003715945] ChrX:9759432 [GRCh38]
ChrX:9727472 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1018G>A (p.Ala340Thr) single nucleotide variant not provided [RCV003687841] ChrX:9739587 [GRCh38]
ChrX:9707627 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1151C>G (p.Thr384Ser) single nucleotide variant not provided [RCV003713252] ChrX:9725810 [GRCh38]
ChrX:9693850 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.442T>C (p.Ser148Pro) single nucleotide variant not provided [RCV003715944] ChrX:9759345 [GRCh38]
ChrX:9727385 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.1010C>A (p.Ala337Asp) single nucleotide variant not provided [RCV003877432] ChrX:9739595 [GRCh38]
ChrX:9707635 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.240del (p.Gly81fs) deletion not provided [RCV003580361] ChrX:9765578 [GRCh38]
ChrX:9733618 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.455+7A>C single nucleotide variant not provided [RCV003816232] ChrX:9759325 [GRCh38]
ChrX:9727365 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.104G>T (p.Gly35Val) single nucleotide variant not provided [RCV003855319] ChrX:9765714 [GRCh38]
ChrX:9733754 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.933C>A (p.Tyr311Ter) single nucleotide variant not provided [RCV003560190] ChrX:9739672 [GRCh38]
ChrX:9707712 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.154C>A (p.Arg52Ser) single nucleotide variant not provided [RCV003558929] ChrX:9765664 [GRCh38]
ChrX:9733704 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.613G>A (p.Val205Ile) single nucleotide variant not provided [RCV003740484] ChrX:9746089 [GRCh38]
ChrX:9714129 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.397T>G (p.Trp133Gly) single nucleotide variant not provided [RCV003721026] ChrX:9759390 [GRCh38]
ChrX:9727430 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816) copy number loss not specified [RCV003986234] ChrX:6759774..10831816 [GRCh37]
ChrX:Xp22.31-22.2		 pathogenic
NM_000273.3(GPR143):c.1189G>T (p.Ala397Ser) single nucleotide variant not provided [RCV003675634] ChrX:9725772 [GRCh38]
ChrX:9693812 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.23C>T (p.Thr8Ile) single nucleotide variant not provided [RCV003680694] ChrX:9765795 [GRCh38]
ChrX:9733835 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
NM_000273.3(GPR143):c.316_323dup (p.Glu109fs) duplication not provided [RCV003683544] ChrX:9760753..9760754 [GRCh38]
ChrX:9728793..9728794 [GRCh37]
ChrX:Xp22.2		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000273.3(GPR143):c.362T>G (p.Met121Arg) single nucleotide variant not provided [RCV003684955] ChrX:9759425 [GRCh38]
ChrX:9727465 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.361-2_361-1insTCAAGGCT insertion not provided [RCV003684956] ChrX:9759427..9759428 [GRCh38]
ChrX:9727467..9727468 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NM_000273.3(GPR143):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV003557134] ChrX:9765815 [GRCh38]
ChrX:9733855 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.939G>A (p.Trp313Ter) single nucleotide variant not provided [RCV003683824] ChrX:9739666 [GRCh38]
ChrX:9707706 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1120+13C>T single nucleotide variant not provided [RCV003864852] ChrX:9739472 [GRCh38]
ChrX:9707512 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.251-1G>T single nucleotide variant not provided [RCV003677808] ChrX:9760827 [GRCh38]
ChrX:9728867 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1130C>T (p.Ala377Val) single nucleotide variant not provided [RCV003866801] ChrX:9725831 [GRCh38]
ChrX:9693871 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.455+10G>A single nucleotide variant not provided [RCV003728867] ChrX:9759322 [GRCh38]
ChrX:9727362 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.706A>G (p.Arg236Gly) single nucleotide variant Ocular albinism, type I [RCV004545925] ChrX:9743626 [GRCh38]
ChrX:9711666 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.206G>T (p.Arg69Leu) single nucleotide variant Inborn genetic diseases [RCV004388305] ChrX:9765612 [GRCh38]
ChrX:9733652 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_9714064)_(9716726_?)dup duplication not provided [RCV004583506] ChrX:9714064..9716726 [GRCh37]
ChrX:Xp22.2		 likely pathogenic
NC_000023.10:g.(?_9707505)_(9716726_?)del deletion not provided [RCV004583495] ChrX:9707505..9716726 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.321C>A (p.His107Gln) single nucleotide variant not provided [RCV004599131] ChrX:9760756 [GRCh38]
ChrX:9728796 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NC_000023.10:g.(?_9727352)_(9733857_?)del deletion not provided [RCV004583484] ChrX:9727352..9733857 [GRCh37]
ChrX:Xp22.2		 pathogenic
NC_000023.10:g.(?_9733588)_(9751474_?)del deletion not provided [RCV004583473] ChrX:9733588..9751474 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.1202A>G (p.His401Arg) single nucleotide variant Inborn genetic diseases [RCV004632350] ChrX:9725759 [GRCh38]
ChrX:9693799 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.475A>C (p.Ile159Leu) single nucleotide variant Inborn genetic diseases [RCV004632351] ChrX:9748647 [GRCh38]
ChrX:9716687 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_000273.3(GPR143):c.559G>C (p.Gly187Arg) single nucleotide variant Inborn genetic diseases [RCV004632352] ChrX:9746143 [GRCh38]
ChrX:9714183 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_000273.3(GPR143):c.250+1G>A single nucleotide variant not provided [RCV004729376] ChrX:9765567 [GRCh38]
ChrX:9733607 [GRCh37]
ChrX:Xp22.2		 pathogenic
NM_000273.3(GPR143):c.686G>A (p.Gly229Asp) single nucleotide variant GPR143-related disorder [RCV004730087] ChrX:9743646 [GRCh38]
ChrX:9711686 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1 copy number loss Intellectual disability [RCV004776398] ChrX:11091..10219826 [GRCh38]
ChrX:Xp22.33-22.2		 pathogenic
NM_000273.3(GPR143):c.593T>G (p.Met198Arg) single nucleotide variant GPR143-related disorder [RCV004728496] ChrX:9746109 [GRCh38]
ChrX:9714149 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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
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.

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1171 2310 2424 1994 4918 1709 2301 4 614 1295 455 2234 6022 5520 37 3674 840 1724 1576 174 1

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
  XM_054327137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327138 (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
  CP068255 (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

Ensembl Acc Id: ENST00000431126   ⟹   ENSP00000406138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX9,743,565 - 9,766,189 (-)Ensembl
Ensembl Acc Id: ENST00000447366   ⟹   ENSP00000390546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX9,739,552 - 9,786,297 (-)Ensembl
Ensembl Acc Id: ENST00000467482   ⟹   ENSP00000417161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX9,725,346 - 9,765,847 (-)Ensembl
Ensembl Acc Id: ENST00000480178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX9,747,833 - 9,759,394 (-)Ensembl
Ensembl Acc Id: ENST00000487206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X9,307,982 - 9,348,469 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274541   ⟹   XP_005274598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,725,413 - 9,765,847 (-)NCBI
GRCh37X9,693,453 - 9,734,005 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452388   ⟹   XP_024308156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,725,346 - 9,778,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054327137   ⟹   XP_054183112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X9,308,049 - 9,348,469 (-)NCBI
RefSeq Acc Id: XM_054327138   ⟹   XP_054183113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X9,307,982 - 9,361,208 (-)NCBI
RefSeq Acc Id: NP_000264   ⟸   NM_000273
- UniProtKB: Q6NTI7 (UniProtKB/Swiss-Prot),   P51810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274598   ⟸   XM_005274541
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308156   ⟸   XM_024452388
- Peptide Label: isoform X2
- UniProtKB: H7BZN6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000417161   ⟸   ENST00000467482
Ensembl Acc Id: ENSP00000406138   ⟸   ENST00000431126
Ensembl Acc Id: ENSP00000390546   ⟸   ENST00000447366
RefSeq Acc Id: XP_054183113   ⟸   XM_054327138
- Peptide Label: isoform X2
- UniProtKB: H7BZN6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183112   ⟸   XM_054327137
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51810-F1-model_v2 AlphaFold P51810 1-404 view protein structure

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

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 Transcript ENST00000431126.1 UniProtKB/TrEMBL
  ENST00000447366 ENTREZGENE
  ENST00000447366.5 UniProtKB/TrEMBL
  ENST00000467482 ENTREZGENE
  ENST00000467482.6 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 300808 OMIM
PANTHER G-PROTEIN COUPLED RECEPTOR 143 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 ENTREZGENE, UniProtKB/TrEMBL
  P51810 ENTREZGENE
  Q6NTI7 ENTREZGENE
UniProt Secondary Q6NTI7 UniProtKB/Swiss-Prot