GPR101 (G protein-coupled receptor 101) - Rat Genome Database

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Gene: GPR101 (G protein-coupled receptor 101) Homo sapiens
Analyze
Symbol: GPR101
Name: G protein-coupled receptor 101
RGD ID: 1344763
HGNC Page HGNC:14963
Description: Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating adrenergic receptor signaling pathway and positive regulation of MAPK cascade. Part of receptor complex. Implicated in growth hormone secreting pituitary adenoma 2.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: GPCR6; PAGH2; PITA2; probable G-protein coupled receptor 101
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X137,023,929 - 137,033,995 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX137,023,929 - 137,033,995 (-)EnsemblGRCh38hg38GRCh38
GRCh37X136,106,088 - 136,116,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,939,973 - 135,941,499 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X135,837,826 - 135,839,353NCBI
CeleraX136,476,405 - 136,477,931 (-)NCBICelera
Cytogenetic MapXq26.3NCBI
HuRefX125,379,125 - 125,380,651 (-)NCBIHuRef
CHM1_1X136,024,015 - 136,025,541 (-)NCBICHM1_1
T2T-CHM13v2.0X135,332,378 - 135,342,444 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart valve physiology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the endocrine system  (IAGP)
Acanthosis nigricans  (IAGP)
Accelerated skeletal maturation  (IAGP)
Acne  (IAGP)
Acral overgrowth  (IAGP)
Adrenal insufficiency  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Arrhythmia  (IAGP)
Arthralgia  (IAGP)
Asthenia  (IAGP)
Autism  (IAGP)
Body odor  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad jaw  (IAGP)
Childhood onset  (IAGP)
Cholelithiasis  (IAGP)
Coarse facial features  (IAGP)
Constrictive median neuropathy  (IAGP)
Cortical diaphyseal thickening of the upper limbs  (IAGP)
Cranial nerve paralysis  (IAGP)
Cutis gyrata of scalp  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Decreased libido  (IAGP)
Deep palmar crease  (IAGP)
Deep plantar creases  (IAGP)
Dental malocclusion  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Dysmenorrhea  (IAGP)
Dysuria  (IAGP)
Elevated circulating growth hormone concentration  (IAGP)
Facial shape deformation  (IAGP)
Fatigue  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Galactorrhea  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hyperpigmentation  (IAGP)
Headache  (IAGP)
Hemianopia  (IAGP)
Hoarse voice  (IAGP)
Hydrocephalus  (IAGP)
Hyperhidrosis  (IAGP)
Hypersomnia  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopituitarism  (IAGP)
Impotence  (IAGP)
Increased circulating insulin-like growth factor 1 concentration  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Infantile onset  (IAGP)
Infertility  (IAGP)
Insulin resistance  (IAGP)
Intestinal polyp  (IAGP)
Joint swelling  (IAGP)
Kyphosis  (IAGP)
Large hands  (IAGP)
Long face  (IAGP)
Macrodactyly  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Migraine  (IAGP)
Mitral regurgitation  (IAGP)
Multinodular goiter  (IAGP)
Myalgia  (IAGP)
Night sweats  (IAGP)
Oligomenorrhea  (IAGP)
Ophthalmoplegia  (IAGP)
Osteoarthritis  (IAGP)
Overgrowth  (IAGP)
Palpebral edema  (IAGP)
Paresthesia  (IAGP)
Pituitary adenoma  (IAGP)
Pituitary growth hormone cell adenoma  (IAGP)
Pituitary hypothyroidism  (IAGP)
Pituitary macroadenoma  (IAGP)
Pituitary prolactin cell adenoma  (IAGP)
Polyphagia  (IAGP)
Prominent supraorbital ridges  (IAGP)
Restless legs  (IAGP)
Seborrheic dermatitis  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Skin tags  (IAGP)
Sleep apnea  (IAGP)
Snoring  (IAGP)
Spinal canal stenosis  (IAGP)
Synophrys  (IAGP)
Tall stature  (IAGP)
Tapered finger  (IAGP)
Thick vermilion border  (IAGP)
Thickened skin  (IAGP)
Type II diabetes mellitus  (IAGP)
Ventricular hypertrophy  (IAGP)
Vertebral compression fracture  (IAGP)
Visual field defect  (IAGP)
Wide nose  (IAGP)
Widely spaced teeth  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11574155   PMID:12044878   PMID:12477932   PMID:15489334   PMID:18029348   PMID:19377476   PMID:21438024   PMID:21873635   PMID:23382219   PMID:24264576   PMID:25192599   PMID:25470569  
PMID:26460568   PMID:26792934   PMID:26797872   PMID:26815903   PMID:27245663   PMID:27282544   PMID:29389097   PMID:29678281   PMID:30021884   PMID:30711029   PMID:31793912   PMID:32296183  
PMID:32958754   PMID:35575683   PMID:38006624  


Genomics

Comparative Map Data
GPR101
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X137,023,929 - 137,033,995 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX137,023,929 - 137,033,995 (-)EnsemblGRCh38hg38GRCh38
GRCh37X136,106,088 - 136,116,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,939,973 - 135,941,499 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X135,837,826 - 135,839,353NCBI
CeleraX136,476,405 - 136,477,931 (-)NCBICelera
Cytogenetic MapXq26.3NCBI
HuRefX125,379,125 - 125,380,651 (-)NCBIHuRef
CHM1_1X136,024,015 - 136,025,541 (-)NCBICHM1_1
T2T-CHM13v2.0X135,332,378 - 135,342,444 (-)NCBIT2T-CHM13v2.0
Gpr101
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X56,542,028 - 56,549,117 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX56,542,028 - 56,549,117 (-)EnsemblGRCm39 Ensembl
GRCm38X57,496,668 - 57,503,757 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX57,496,668 - 57,503,757 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X54,749,845 - 54,756,934 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X53,846,588 - 53,850,485 (-)NCBIMGSCv36mm8
CeleraX43,973,533 - 43,980,649 (-)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX31.93NCBI
Gpr101
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X140,575,818 - 140,579,734 (-)NCBIGRCr8
mRatBN7.2X135,540,042 - 135,543,958 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX135,540,042 - 135,543,958 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX137,735,393 - 137,739,309 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X141,290,573 - 141,294,489 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X138,860,204 - 138,864,120 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X140,296,220 - 140,303,743 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX140,299,770 - 140,303,686 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X140,345,513 - 140,350,282 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X142,532,629 - 142,536,545 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX131,694,130 - 131,698,046 (-)NCBICelera
Cytogenetic MapXq36NCBI
Gpr101
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554898,125,763 - 8,127,280 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554898,125,763 - 8,127,280 (+)NCBIChiLan1.0ChiLan1.0
GPR101
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X136,442,598 - 136,452,639 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X136,446,200 - 136,456,239 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X126,149,803 - 126,159,844 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X136,418,522 - 136,420,048 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX136,418,522 - 136,420,048 (-)Ensemblpanpan1.1panPan2
GPR101
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X107,302,200 - 107,304,733 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX107,303,175 - 107,304,689 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX93,130,700 - 93,132,214 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X109,282,734 - 109,284,248 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX109,281,757 - 109,286,423 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X106,422,687 - 106,424,201 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X108,614,254 - 108,615,768 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X108,257,035 - 108,258,549 (-)NCBIUU_Cfam_GSD_1.0
Gpr101
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X105,324,248 - 105,334,178 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651310,282,683 - 10,284,206 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651310,282,683 - 10,284,206 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPR101
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX112,108,889 - 112,113,652 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X112,109,592 - 112,111,333 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GPR101
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X112,057,904 - 112,063,298 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX112,058,791 - 112,060,323 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606549,755,493 - 49,759,703 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gpr101
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248089,951,202 - 9,953,971 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248089,950,331 - 9,960,019 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GPR101
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
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: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)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:10679-156013167)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-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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1		 pathogenic
GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3 copy number gain See cases [RCV000052470] ChrX:136613664..137581772 [GRCh38]
ChrX:135695823..136663931 [GRCh37]
ChrX:135523489..136491597 [NCBI36]
ChrX:Xq26.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_054021.1(GPR101):c.1295C>T (p.Pro432Leu) single nucleotide variant Malignant melanoma [RCV000063948] ChrX:137030380 [GRCh38]
ChrX:136112539 [GRCh37]
ChrX:135940205 [NCBI36]
ChrX:Xq26.3		 not provided
NM_054021.2(GPR101):c.1156A>C (p.Asn386His) single nucleotide variant not provided [RCV000122580] ChrX:137030519 [GRCh38]
ChrX:136112678 [GRCh37]
ChrX:Xq26.3		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) single nucleotide variant Pituitary adenoma, growth hormone-secreting, 2 [RCV000172847] ChrX:137030577 [GRCh38]
ChrX:136112736 [GRCh37]
ChrX:Xq26.3		 pathogenic|conflicting interpretations of pathogenicity
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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3		 likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) single nucleotide variant GPR101-related disorder [RCV003927490]|Pituitary adenoma, growth hormone-secreting, 2 [RCV000154187]|not provided [RCV000887712] ChrX:137030751 [GRCh38]
ChrX:136112910 [GRCh37]
ChrX:Xq26.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000235066] ChrX:135601430..136192229 [GRCh37]
ChrX:Xq26.3		 pathogenic
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2 copy number gain X-linked acrogigantism due to Xq26 microduplication [RCV000210453] ChrX:135602028..136259908 [GRCh37]
ChrX:Xq26.3		 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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415468] ChrX:135622314..136191699 [GRCh37]
ChrX:Xq26.3		 likely pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415470] ChrX:135533330..136123779 [GRCh37]
ChrX:Xq26.3		 likely pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415471] ChrX:135596446..136254970 [GRCh37]
ChrX:Xq26.3		 likely pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415472] ChrX:135549274..136126345 [GRCh37]
ChrX:Xq26.3		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_054021.2(GPR101):c.924G>A (p.Glu308=) single nucleotide variant not provided [RCV000514387] ChrX:137030751 [GRCh38]
ChrX:136112910 [GRCh37]
ChrX:Xq26.3		 benign|likely benign
NM_054021.2(GPR101):c.712G>A (p.Val238Ile) single nucleotide variant not provided [RCV000514656] ChrX:137030963 [GRCh38]
ChrX:136113122 [GRCh37]
ChrX:Xq26.3		 benign|likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1		 pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq26.3(chrX:136112540-136260713)x2 copy number gain not provided [RCV000753805] ChrX:136112540..136260713 [GRCh37]
ChrX:Xq26.3		 benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_054021.2(GPR101):c.477C>T (p.Ala159=) single nucleotide variant not provided [RCV000919037] ChrX:137031198 [GRCh38]
ChrX:136113357 [GRCh37]
ChrX:Xq26.3		 likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_054021.2(GPR101):c.1525T>C (p.Ter509Arg) single nucleotide variant not provided [RCV000895592] ChrX:137030150 [GRCh38]
ChrX:136112309 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.531G>A (p.Glu177=) single nucleotide variant not provided [RCV000923280] ChrX:137031144 [GRCh38]
ChrX:136113303 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.267G>A (p.Val89=) single nucleotide variant not provided [RCV000881793] ChrX:137031408 [GRCh38]
ChrX:136113567 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.1506C>T (p.Tyr502=) single nucleotide variant not provided [RCV000929086] ChrX:137030169 [GRCh38]
ChrX:136112328 [GRCh37]
ChrX:Xq26.3		 benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_054021.2(GPR101):c.735G>A (p.Glu245=) single nucleotide variant not provided [RCV000969875] ChrX:137030940 [GRCh38]
ChrX:136113099 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.1225G>A (p.Val409Met) single nucleotide variant not provided [RCV000887370] ChrX:137030450 [GRCh38]
ChrX:136112609 [GRCh37]
ChrX:Xq26.3		 benign
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_054021.2(GPR101):c.963G>T (p.Lys321Asn) single nucleotide variant not specified [RCV004288810] ChrX:137030712 [GRCh38]
ChrX:136112871 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.166T>C (p.Leu56=) single nucleotide variant not provided [RCV000880950] ChrX:137031509 [GRCh38]
ChrX:136113668 [GRCh37]
ChrX:Xq26.3		 benign
NM_054021.2(GPR101):c.255C>A (p.Ala85=) single nucleotide variant not provided [RCV000886058] ChrX:137031420 [GRCh38]
ChrX:136113579 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.1293A>G (p.Val431=) single nucleotide variant not provided [RCV000901701] ChrX:137030382 [GRCh38]
ChrX:136112541 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.892G>A (p.Val298Ile) single nucleotide variant GPR101-related disorder [RCV003913039]|not provided [RCV000913230]|not specified [RCV004029358] ChrX:137030783 [GRCh38]
ChrX:136112942 [GRCh37]
ChrX:Xq26.3		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_054021.2(GPR101):c.510G>A (p.Trp170Ter) single nucleotide variant Pituitary adenoma, growth hormone-secreting, 2 [RCV001292609] ChrX:137031165 [GRCh38]
ChrX:136113324 [GRCh37]
ChrX:Xq26.3		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3(chrX:135767906-136348117)x3 copy number gain not provided [RCV001834459] ChrX:135767906..136348117 [GRCh37]
ChrX:Xq26.3		 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
NC_000023.10:g.(?_135067662)_(136652229_?)del deletion Christianson syndrome [RCV003107929]|Heterotaxy, visceral, 1, X-linked [RCV001956452]|Hyper-IgM syndrome type 1 [RCV001956451] ChrX:135067662..136652229 [GRCh37]
ChrX:Xq26.3		 pathogenic
NM_054021.2(GPR101):c.878C>T (p.Thr293Ile) single nucleotide variant not provided [RCV002148159] ChrX:137030797 [GRCh38]
ChrX:136112956 [GRCh37]
ChrX:Xq26.3		 benign
NM_054021.2(GPR101):c.1127T>C (p.Leu376Pro) single nucleotide variant not provided [RCV002216278] ChrX:137030548 [GRCh38]
ChrX:136112707 [GRCh37]
ChrX:Xq26.3		 benign
NM_054021.2(GPR101):c.370G>T (p.Val124Leu) single nucleotide variant not provided [RCV002117845] ChrX:137031305 [GRCh38]
ChrX:136113464 [GRCh37]
ChrX:Xq26.3		 benign
NM_054021.2(GPR101):c.1294C>T (p.Pro432Ser) single nucleotide variant GPR101-related disorder [RCV003978644]|not provided [RCV002103832] ChrX:137030381 [GRCh38]
ChrX:136112540 [GRCh37]
ChrX:Xq26.3		 benign|likely benign
NC_000023.10:g.(?_135730408)_(136113833_?)dup duplication not provided [RCV003122997] ChrX:135730408..136113833 [GRCh37]
ChrX:Xq26.3		 pathogenic
NM_054021.2(GPR101):c.844G>C (p.Gly282Arg) single nucleotide variant not specified [RCV004301726] ChrX:137030831 [GRCh38]
ChrX:136112990 [GRCh37]
ChrX:Xq26.3		 uncertain significance
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
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_054021.2(GPR101):c.365T>C (p.Ile122Thr) single nucleotide variant not provided [RCV002858722] ChrX:137031310 [GRCh38]
ChrX:136113469 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1493T>C (p.Ile498Thr) single nucleotide variant not specified [RCV004111853] ChrX:137030182 [GRCh38]
ChrX:136112341 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1102G>A (p.Glu368Lys) single nucleotide variant not provided [RCV002624055]|not specified [RCV004070675] ChrX:137030573 [GRCh38]
ChrX:136112732 [GRCh37]
ChrX:Xq26.3		 benign|uncertain significance
NM_054021.2(GPR101):c.1101C>T (p.Val367=) single nucleotide variant not provided [RCV003006228] ChrX:137030574 [GRCh38]
ChrX:136112733 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.136T>G (p.Phe46Val) single nucleotide variant not specified [RCV004158414] ChrX:137031539 [GRCh38]
ChrX:136113698 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.531G>C (p.Glu177Asp) single nucleotide variant not provided [RCV002630976] ChrX:137031144 [GRCh38]
ChrX:136113303 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.760G>A (p.Glu254Lys) single nucleotide variant not specified [RCV004101186] ChrX:137030915 [GRCh38]
ChrX:136113074 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.886A>G (p.Ser296Gly) single nucleotide variant GPR101-related disorder [RCV003926752]|not provided [RCV002647885]|not specified [RCV004927897] ChrX:137030789 [GRCh38]
ChrX:136112948 [GRCh37]
ChrX:Xq26.3		 benign|likely benign
NM_054021.2(GPR101):c.135T>C (p.Ser45=) single nucleotide variant not provided [RCV002607251] ChrX:137031540 [GRCh38]
ChrX:136113699 [GRCh37]
ChrX:Xq26.3		 benign
NM_054021.2(GPR101):c.1141C>T (p.Arg381Cys) single nucleotide variant not specified [RCV004263306] ChrX:137030534 [GRCh38]
ChrX:136112693 [GRCh37]
ChrX:Xq26.3		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_054021.2(GPR101):c.1329C>T (p.Phe443=) single nucleotide variant not provided [RCV003439927] ChrX:137030346 [GRCh38]
ChrX:136112505 [GRCh37]
ChrX:Xq26.3		 likely benign
NM_054021.2(GPR101):c.847A>C (p.Ser283Arg) single nucleotide variant not provided [RCV003439928] ChrX:137030828 [GRCh38]
ChrX:136112987 [GRCh37]
ChrX:Xq26.3		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_054021.2(GPR101):c.1136G>C (p.Ser379Thr) single nucleotide variant not provided [RCV003547021] ChrX:137030539 [GRCh38]
ChrX:136112698 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1103A>T (p.Glu368Val) single nucleotide variant not provided [RCV003839104]|not specified [RCV004366876] ChrX:137030572 [GRCh38]
ChrX:136112731 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.827G>A (p.Arg276Lys) single nucleotide variant not provided [RCV003554346] ChrX:137030848 [GRCh38]
ChrX:136113007 [GRCh37]
ChrX:Xq26.3		 benign
NM_054021.2(GPR101):c.138C>T (p.Phe46=) single nucleotide variant not provided [RCV003853078] ChrX:137031537 [GRCh38]
ChrX:136113696 [GRCh37]
ChrX:Xq26.3		 likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_054021.2(GPR101):c.91G>A (p.Gly31Ser) single nucleotide variant not provided [RCV003554668] ChrX:137031584 [GRCh38]
ChrX:136113743 [GRCh37]
ChrX:Xq26.3		 benign
NM_054021.2(GPR101):c.927C>A (p.Ser309Arg) single nucleotide variant not provided [RCV003684983] ChrX:137030748 [GRCh38]
ChrX:136112907 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1312A>G (p.Ile438Val) single nucleotide variant not provided [RCV003733992] ChrX:137030363 [GRCh38]
ChrX:136112522 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1255G>T (p.Ala419Ser) single nucleotide variant not provided [RCV003710790] ChrX:137030420 [GRCh38]
ChrX:136112579 [GRCh37]
ChrX:Xq26.3		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_054021.2(GPR101):c.17C>G (p.Thr6Ser) single nucleotide variant not specified [RCV003994857] ChrX:137031658 [GRCh38]
ChrX:136113817 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1160C>G (p.Pro387Arg) single nucleotide variant not specified [RCV004388219] ChrX:137030515 [GRCh38]
ChrX:136112674 [GRCh37]
ChrX:Xq26.3		 uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_054021.2(GPR101):c.1142G>A (p.Arg381His) single nucleotide variant not specified [RCV004388218] ChrX:137030533 [GRCh38]
ChrX:136112692 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.512G>A (p.Gly171Asp) single nucleotide variant not specified [RCV004388220] ChrX:137031163 [GRCh38]
ChrX:136113322 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.915G>C (p.Glu305Asp) single nucleotide variant not specified [RCV004388224] ChrX:137030760 [GRCh38]
ChrX:136112919 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.563C>G (p.Ala188Gly) single nucleotide variant not specified [RCV004388221] ChrX:137031112 [GRCh38]
ChrX:136113271 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.813G>C (p.Lys271Asn) single nucleotide variant not specified [RCV004388222] ChrX:137030862 [GRCh38]
ChrX:136113021 [GRCh37]
ChrX:Xq26.3		 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
NM_054021.2(GPR101):c.305A>G (p.His102Arg) single nucleotide variant not specified [RCV004632312] ChrX:137031370 [GRCh38]
ChrX:136113529 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.859A>G (p.Lys287Glu) single nucleotide variant not specified [RCV004632313] ChrX:137030816 [GRCh38]
ChrX:136112975 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.55A>T (p.Met19Leu) single nucleotide variant not specified [RCV004632314] ChrX:137031620 [GRCh38]
ChrX:136113779 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
NM_054021.2(GPR101):c.1213A>G (p.Ile405Val) single nucleotide variant not specified [RCV004922249] ChrX:137030462 [GRCh38]
ChrX:136112621 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1465G>A (p.Gly489Arg) single nucleotide variant not specified [RCV004932986] ChrX:137030210 [GRCh38]
ChrX:136112369 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.803G>A (p.Gly268Asp) single nucleotide variant not specified [RCV004932988] ChrX:137030872 [GRCh38]
ChrX:136113031 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.836C>A (p.Ala279Asp) single nucleotide variant not specified [RCV004922247] ChrX:137030839 [GRCh38]
ChrX:136112998 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1159C>G (p.Pro387Ala) single nucleotide variant not specified [RCV004922248] ChrX:137030516 [GRCh38]
ChrX:136112675 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1058T>C (p.Met353Thr) single nucleotide variant not specified [RCV004922250] ChrX:137030617 [GRCh38]
ChrX:136112776 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.1465G>C (p.Gly489Arg) single nucleotide variant not specified [RCV004932987] ChrX:137030210 [GRCh38]
ChrX:136112369 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.872C>T (p.Thr291Met) single nucleotide variant not specified [RCV004932985] ChrX:137030803 [GRCh38]
ChrX:136112962 [GRCh37]
ChrX:Xq26.3		 uncertain significance
NM_054021.2(GPR101):c.658C>G (p.Arg220Gly) single nucleotide variant not specified [RCV004355630] ChrX:137031017 [GRCh38]
ChrX:136113176 [GRCh37]
ChrX:Xq26.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:71
Count of miRNA genes:69
Interacting mature miRNAs:70
Transcripts:ENST00000298110
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597289864GWAS1385938_Hbody mass index QTL GWAS1385938 (human)1e-14body mass indexbody mass index (BMI) (CMO:0000105)X137031305137031306Human
597074963GWAS1171037_Hbody mass index QTL GWAS1171037 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)X137031305137031306Human
597196727GWAS1292801_Hbody mass index QTL GWAS1292801 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)X137031305137031306Human

Markers in Region
GPR101_2082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X136,112,288 - 136,113,158UniSTSGRCh37
Build 36X135,939,954 - 135,940,824RGDNCBI36
CeleraX136,476,386 - 136,477,256RGD
HuRefX125,379,106 - 125,379,976UniSTS
UniSTS:481773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X136,112,307 - 136,113,833UniSTSGRCh37
CeleraX136,476,405 - 136,477,931UniSTS
HuRefX125,379,125 - 125,380,651UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
157 357 518 341 2025 236 236 50 143 31 265 955 803 21 1906 68 368 177 20

Sequence


Ensembl Acc Id: ENST00000298110   ⟹   ENSP00000298110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX137,030,148 - 137,031,674 (-)Ensembl
Ensembl Acc Id: ENST00000651716   ⟹   ENSP00000498972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX137,023,929 - 137,033,995 (-)Ensembl
RefSeq Acc Id: NM_054021   ⟹   NP_473362
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X137,023,929 - 137,033,995 (-)NCBI
GRCh37X136,112,307 - 136,113,833 (-)RGD
Build 36X135,939,973 - 135,941,499 (-)NCBI Archive
CeleraX136,476,405 - 136,477,931 (-)RGD
HuRefX125,379,125 - 125,380,651 (-)RGD
CHM1_1X136,024,015 - 136,025,541 (-)NCBI
T2T-CHM13v2.0X135,332,378 - 135,342,444 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_473362 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH69439 (Get FASTA)   NCBI Sequence Viewer  
  AAL26486 (Get FASTA)   NCBI Sequence Viewer  
  BAB89301 (Get FASTA)   NCBI Sequence Viewer  
  BAC06152 (Get FASTA)   NCBI Sequence Viewer  
  EAW88450 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000498972
  ENSP00000498972.1
GenBank Protein Q96P66 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_473362   ⟸   NM_054021
- UniProtKB: Q5JSM8 (UniProtKB/Swiss-Prot),   Q8NG93 (UniProtKB/Swiss-Prot),   Q96P66 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000498972   ⟸   ENST00000651716
Ensembl Acc Id: ENSP00000298110   ⟸   ENST00000298110

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96P66-F1-model_v2 AlphaFold Q96P66 1-508 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14963 AgrOrtholog
COSMIC GPR101 COSMIC
Ensembl Genes ENSG00000165370 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000651716 ENTREZGENE
  ENST00000651716.2 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000165370 GTEx
HGNC ID HGNC:14963 ENTREZGENE
Human Proteome Map GPR101 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
KEGG Report hsa:83550 UniProtKB/Swiss-Prot
NCBI Gene 83550 ENTREZGENE
OMIM 300393 OMIM
PANTHER G PROTEIN-COUPLED RECEPTOR UniProtKB/Swiss-Prot
  G-PROTEIN COUPLED RECEPTOR 101-RELATED UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB PA28849 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt GP101_HUMAN UniProtKB/Swiss-Prot
  Q5JSM8 ENTREZGENE
  Q8NG93 ENTREZGENE
  Q96P66 ENTREZGENE
UniProt Secondary Q5JSM8 UniProtKB/Swiss-Prot
  Q8NG93 UniProtKB/Swiss-Prot