GLA (galactosidase alpha) - Rat Genome Database

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Gene: GLA (galactosidase alpha) Homo sapiens
Analyze
Symbol: GLA
Name: galactosidase alpha
RGD ID: 1344140
HGNC Page HGNC
Description: Exhibits hydrolase activity, hydrolyzing O-glycosyl compounds; protein homodimerization activity; and signaling receptor binding activity. Involved in glycosphingolipid catabolic process and oligosaccharide metabolic process. Localizes to Golgi apparatus; extracellular region; and lysosome. Implicated in Fabry disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: agalsidase alfa; alpha-D-galactosidase A; alpha-D-galactoside galactohydrolase 1; alpha-gal A; alpha-galactosidase A; GALA; galactosidase, alpha; galactosylgalactosylglucosylceramidase GLA; melibiase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,397,803 - 101,408,012 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX101,393,273 - 101,408,012 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,397,803 - 101,407,925 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,652,791 - 100,662,913 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,539,435 - 100,549,657 (-)NCBINCBI36hg18NCBI36
Build 34X100,458,941 - 100,469,096NCBI
CeleraX101,172,239 - 101,182,459 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,459,075 - 90,468,889 (-)NCBIHuRef
CHM1_1X100,546,260 - 100,556,479 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
amphetamine  (ISO)
antimony(0)  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
cyfluthrin  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elesclomol  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
glucose  (ISO)
hydralazine  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methyl methacrylate  (ISO)
migalastat  (EXP)
N-nitrosodimethylamine  (EXP)
nickel dichloride  (EXP)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
serotonin  (ISO)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
tremolite asbestos  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zalcitabine  (ISO)
zoledronic acid  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormality of femur morphology  (IAGP)
Abnormality of the hand  (IAGP)
Achalasia  (IAGP)
Airway obstruction  (IAGP)
Anemia  (IAGP)
Angina pectoris  (IAGP)
Angiokeratoma  (IAGP)
Angiokeratoma corporis diffusum  (IAGP)
Anorexia  (IAGP)
Anxiety  (IAGP)
Arrhythmia  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Atrioventricular block  (IAGP)
Bull's eye maculopathy  (IAGP)
Bundle branch block  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Congestive heart failure  (IAGP)
Conjunctival telangiectasia  (IAGP)
Corneal dystrophy  (IAGP)
Corneal opacity  (IAGP)
Delayed puberty  (IAGP)
Depressivity  (IAGP)
Developmental regression  (IAGP)
Diabetes insipidus  (IAGP)
Diarrhea  (IAGP)
Dyspnea  (IAGP)
Elevated circulating globotriaosylceramide concentration  (IAGP)
Emphysema  (IAGP)
Fasciculations  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Glomerulopathy  (IAGP)
Hematuria  (IAGP)
Hyperkeratosis  (IAGP)
Hyperlipidemia  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypohidrosis  (IAGP)
Juvenile onset  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lipiduria  (IAGP)
Lymphedema  (IAGP)
Malabsorption  (IAGP)
Mitral regurgitation  (IAGP)
Muscle spasm  (IAGP)
Myalgia  (IAGP)
Myocardial infarction  (IAGP)
Nausea  (IAGP)
Nausea and vomiting  (IAGP)
Nephropathy  (IAGP)
Nephrotic syndrome  (IAGP)
Optic atrophy  (IAGP)
Paresthesia  (IAGP)
Proteinuria  (IAGP)
Reduced bone mineral density  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Subcutaneous nodule  (IAGP)
Telangiectasia of the skin  (IAGP)
Tenesmus  (IAGP)
Thick lower lip vermilion  (IAGP)
Transient ischemic attack  (IAGP)
Urinary mulberry cells  (IAGP)
Ventricular septal hypertrophy  (IAGP)
Vertigo  (IAGP)
Vomiting  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:39940   PMID:1315715   PMID:1332979   PMID:1846223   PMID:2152885   PMID:2160973   PMID:2171331   PMID:2542896   PMID:2836863   PMID:2892762   PMID:3014515   PMID:3029062  
PMID:3036505   PMID:6256390   PMID:6313412   PMID:6323102   PMID:7503918   PMID:7504405   PMID:7531540   PMID:7575533   PMID:7596372   PMID:7599642   PMID:7626884   PMID:7759078  
PMID:7911050   PMID:7959728   PMID:8069316   PMID:8125298   PMID:8380905   PMID:8395937   PMID:8425221   PMID:8543175   PMID:8804427   PMID:8807334   PMID:8834244   PMID:8863162  
PMID:8875188   PMID:8931708   PMID:9100224   PMID:9105656   PMID:9110171   PMID:9620884   PMID:9630664   PMID:10090526   PMID:10208848   PMID:10666480   PMID:10838196   PMID:11076046  
PMID:11295840   PMID:11322659   PMID:11668641   PMID:11775551   PMID:11828341   PMID:11882018   PMID:12033283   PMID:12360742   PMID:12360745   PMID:12370426   PMID:12471562   PMID:12477932  
PMID:12938095   PMID:15003450   PMID:15339079   PMID:15489334   PMID:15712228   PMID:15772651   PMID:15776423   PMID:15895718   PMID:16344560   PMID:16372133   PMID:16511611   PMID:16531566  
PMID:16595074   PMID:16754800   PMID:16899426   PMID:16972173   PMID:17263716   PMID:17555407   PMID:17592721   PMID:17804462   PMID:18023222   PMID:18029348   PMID:18205205   PMID:18456533  
PMID:18472290   PMID:18560446   PMID:18633574   PMID:18698230   PMID:18724168   PMID:18849176   PMID:18979178   PMID:18979223   PMID:19037253   PMID:19287194   PMID:19357250   PMID:19404287  
PMID:19468850   PMID:19615732   PMID:19621417   PMID:19913121   PMID:19940122   PMID:19941952   PMID:19949670   PMID:20031620   PMID:20110537   PMID:20122163   PMID:20301469   PMID:20444686  
PMID:20505683   PMID:20628086   PMID:20821055   PMID:20860754   PMID:21305660   PMID:21333496   PMID:21517827   PMID:21569768   PMID:21569769   PMID:21643977   PMID:21683120   PMID:21755431  
PMID:21859400   PMID:21873635   PMID:21949853   PMID:22008442   PMID:22187137   PMID:22260214   PMID:22268729   PMID:22305854   PMID:22307442   PMID:22341397   PMID:22465271   PMID:22551898  
PMID:22558451   PMID:22563919   PMID:22768187   PMID:22773828   PMID:22841442   PMID:22863883   PMID:23190516   PMID:23376485   PMID:23393592   PMID:23533145   PMID:23608164   PMID:23724928  
PMID:23741361   PMID:23756194   PMID:23788249   PMID:23867994   PMID:24386359   PMID:24398019   PMID:24679964   PMID:24718812   PMID:25068814   PMID:25101867   PMID:25281798   PMID:25295576  
PMID:25382311   PMID:25423912   PMID:25468652   PMID:25544563   PMID:26070511   PMID:26288249   PMID:26297554   PMID:26334996   PMID:26415523   PMID:26456105   PMID:26564084   PMID:26691501  
PMID:26869469   PMID:26971403   PMID:26972000   PMID:26981927   PMID:27059467   PMID:27100101   PMID:27156739   PMID:27160240   PMID:27173435   PMID:27195818   PMID:27211852   PMID:27238910  
PMID:27432908   PMID:27510433   PMID:27531472   PMID:27560961   PMID:27595546   PMID:27834756   PMID:27916943   PMID:28087245   PMID:28098348   PMID:28152533   PMID:28166746   PMID:28225726  
PMID:28275245   PMID:28276057   PMID:28377241   PMID:28430823   PMID:28615118   PMID:28723748   PMID:28892806   PMID:28988177   PMID:29018006   PMID:29037082   PMID:29227985   PMID:29330335  
PMID:29568061   PMID:29653899   PMID:29794742   PMID:29982630   PMID:30048710   PMID:30099469   PMID:30242261   PMID:30470436   PMID:30587147   PMID:30723321   PMID:30762167   PMID:30830284  
PMID:30988410   PMID:31046837   PMID:31067829   PMID:31073040   PMID:31321922   PMID:31393666   PMID:31841972   PMID:31899485   PMID:31907047   PMID:31949022   PMID:31996269   PMID:32246049  
PMID:32313061   PMID:32353859   PMID:32418857   PMID:32512878   PMID:33060197  


Genomics

Comparative Map Data
GLA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,397,803 - 101,408,012 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX101,393,273 - 101,408,012 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,397,803 - 101,407,925 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,652,791 - 100,662,913 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,539,435 - 100,549,657 (-)NCBINCBI36hg18NCBI36
Build 34X100,458,941 - 100,469,096NCBI
CeleraX101,172,239 - 101,182,459 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,459,075 - 90,468,889 (-)NCBIHuRef
CHM1_1X100,546,260 - 100,556,479 (-)NCBICHM1_1
Gla
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,488,918 - 133,501,875 (-)NCBIGRCm39mm39
GRCm39 EnsemblX133,488,898 - 133,501,874 (-)Ensembl
GRCm38X134,588,169 - 134,601,005 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,588,149 - 134,601,125 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X131,122,708 - 131,135,544 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X129,934,706 - 129,947,305 (-)NCBImm8
CeleraX117,467,753 - 117,480,561 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX56.2NCBI
Gla
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X97,769,227 - 97,780,646 (-)NCBI
Rnor_6.0 EnsemblX105,406,792 - 105,417,323 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X105,405,915 - 105,417,331 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X105,295,029 - 105,306,686 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X122,044,703 - 122,056,327 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX98,809,769 - 98,821,187 (-)NCBICelera
Cytogenetic MapXq32NCBI
Gla
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555037,521,930 - 7,535,817 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555037,526,077 - 7,535,817 (-)NCBIChiLan1.0ChiLan1.0
GLA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X100,732,311 - 100,742,280 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,732,311 - 100,742,280 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X90,600,412 - 90,610,594 (-)NCBIMhudiblu_PPA_v0panPan3
GLA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,311,536 - 75,320,391 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,311,536 - 75,320,249 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,731,752 - 76,740,708 (-)NCBI
UMICH_Zoey_3.1X74,296,077 - 74,305,030 (-)NCBI
UNSW_CanFamBas_1.0X75,956,280 - 75,965,243 (-)NCBI
UU_Cfam_GSD_1.0X75,718,710 - 75,727,662 (-)NCBI
Gla
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X62,990,371 - 63,000,657 (+)NCBI
SpeTri2.0NW_004936813474,938 - 484,753 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX83,023,903 - 83,032,284 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X83,024,582 - 83,032,273 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GLA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,738,097 - 89,749,740 (-)NCBI
ChlSab1.1 EnsemblX89,737,966 - 89,750,539 (-)Ensembl
Gla
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249021,163,360 - 1,173,087 (+)NCBI

Position Markers
GDB:192499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,662,727 - 100,662,806UniSTSGRCh37
Build 36X100,549,383 - 100,549,462RGDNCBI36
CeleraX101,182,185 - 101,182,264RGD
Cytogenetic MapXq22UniSTS
HuRefX90,468,615 - 90,468,694UniSTS
GDB:186877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,654,670 - 100,654,904UniSTSGRCh37
Build 36X100,541,326 - 100,541,560RGDNCBI36
CeleraX101,174,129 - 101,174,363RGD
Cytogenetic MapXq22UniSTS
HuRefX90,460,966 - 90,461,200UniSTS
GDB:226672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,662,668 - 100,663,017UniSTSGRCh37
Build 36X100,549,324 - 100,549,673RGDNCBI36
CeleraX101,182,126 - 101,182,475RGD
Cytogenetic MapXq22UniSTS
HuRefX90,468,556 - 90,468,905UniSTS
GDB:264201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,653,352 - 100,653,937UniSTSGRCh37
Build 36X100,540,008 - 100,540,593RGDNCBI36
CeleraX101,172,812 - 101,173,397RGD
Cytogenetic MapXq22UniSTS
HuRefX90,459,648 - 90,460,233UniSTS
GDB:265312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,656,544 - 100,656,943UniSTSGRCh37
Build 36X100,543,200 - 100,543,599RGDNCBI36
CeleraX101,176,003 - 101,176,402RGD
Cytogenetic MapXq22UniSTS
HuRefX90,462,840 - 90,463,239UniSTS
GDB:373995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,653,707 - 100,653,988UniSTSGRCh37
Build 36X100,540,363 - 100,540,644RGDNCBI36
CeleraX101,173,167 - 101,173,448RGD
Cytogenetic MapXq22UniSTS
HuRefX90,460,003 - 90,460,284UniSTS
GDB:555540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,653,296 - 100,653,652UniSTSGRCh37
Build 36X100,539,952 - 100,540,308RGDNCBI36
CeleraX101,172,756 - 101,173,112RGD
Cytogenetic MapXq22UniSTS
HuRefX90,459,592 - 90,459,948UniSTS
PMC129774P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,653,009 - 100,653,455UniSTSGRCh37
Build 36X100,539,665 - 100,540,111RGDNCBI36
CeleraX101,172,469 - 101,172,915RGD
Cytogenetic MapXq22UniSTS
HuRefX90,459,305 - 90,459,751UniSTS
RH18080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,652,845 - 100,653,009UniSTSGRCh37
Build 36X100,539,501 - 100,539,665RGDNCBI36
CeleraX101,172,305 - 101,172,469RGD
Cytogenetic MapXq22UniSTS
HuRefX90,459,141 - 90,459,305UniSTS
GeneMap99-GB4 RH MapX272.95UniSTS
GLA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,652,841 - 100,653,465UniSTSGRCh37
CeleraX101,172,301 - 101,172,925UniSTS
HuRefX90,459,137 - 90,459,761UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1264
Count of miRNA genes:675
Interacting mature miRNAs:742
Transcripts:ENST00000218516, ENST00000466414, ENST00000468823, ENST00000479445, ENST00000480513, ENST00000486121, ENST00000493905
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1602 2013 1444 321 1893 221 3205 610 1472 367 1085 1586 114 1154 1804 4
Low 830 971 279 301 56 243 1150 1584 2237 51 363 22 57 50 984
Below cutoff 3 1 1 1 9 1 6 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK222627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB370480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU508439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC061278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT599481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M18242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218516   ⟹   ENSP00000218516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,803 - 101,407,925 (-)Ensembl
RefSeq Acc Id: ENST00000466414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,807 - 101,398,694 (-)Ensembl
RefSeq Acc Id: ENST00000468823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,398,516 - 101,400,853 (-)Ensembl
RefSeq Acc Id: ENST00000479445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,401,370 - 101,407,887 (-)Ensembl
RefSeq Acc Id: ENST00000480513   ⟹   ENSP00000497055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,936 - 101,408,012 (-)Ensembl
RefSeq Acc Id: ENST00000486121   ⟹   ENSP00000501124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,936 - 101,407,833 (-)Ensembl
RefSeq Acc Id: ENST00000493905   ⟹   ENSP00000476935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,803 - 101,407,908 (-)Ensembl
RefSeq Acc Id: ENST00000649178   ⟹   ENSP00000498186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,807 - 101,407,912 (-)Ensembl
RefSeq Acc Id: ENST00000674127   ⟹   ENSP00000501044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,819 - 101,407,831 (-)Ensembl
RefSeq Acc Id: ENST00000674142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,393,273 - 101,407,990 (-)Ensembl
RefSeq Acc Id: ENST00000674634   ⟹   ENSP00000502629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,398,280 - 101,407,845 (-)Ensembl
RefSeq Acc Id: ENST00000675592   ⟹   ENSP00000502239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,809 - 101,407,903 (-)Ensembl
RefSeq Acc Id: ENST00000675799   ⟹   ENSP00000502661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,863 - 101,407,962 (-)Ensembl
RefSeq Acc Id: ENST00000675968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,807 - 101,407,964 (-)Ensembl
RefSeq Acc Id: ENST00000676156   ⟹   ENSP00000501730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,809 - 101,407,903 (-)Ensembl
RefSeq Acc Id: ENST00000676372   ⟹   ENSP00000502805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,397,809 - 101,407,903 (-)Ensembl
RefSeq Acc Id: NM_000169   ⟹   NP_000160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,397,803 - 101,407,925 (-)NCBI
GRCh37X100,652,779 - 100,663,001 (-)ENTREZGENE
Build 36X100,539,435 - 100,549,657 (-)NCBI Archive
HuRefX90,459,075 - 90,468,889 (-)ENTREZGENE
CHM1_1X100,546,260 - 100,556,479 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164783
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,397,803 - 101,407,925 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_000160   ⟸   NM_000169
- Peptide Label: precursor
- UniProtKB: P06280 (UniProtKB/Swiss-Prot),   Q53Y83 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501044   ⟸   ENST00000674127
RefSeq Acc Id: ENSP00000498186   ⟸   ENST00000649178
RefSeq Acc Id: ENSP00000218516   ⟸   ENST00000218516
RefSeq Acc Id: ENSP00000476935   ⟸   ENST00000493905
RefSeq Acc Id: ENSP00000497055   ⟸   ENST00000480513
RefSeq Acc Id: ENSP00000501124   ⟸   ENST00000486121
RefSeq Acc Id: ENSP00000502629   ⟸   ENST00000674634
RefSeq Acc Id: ENSP00000502661   ⟸   ENST00000675799
RefSeq Acc Id: ENSP00000502239   ⟸   ENST00000675592
RefSeq Acc Id: ENSP00000501730   ⟸   ENST00000676156
RefSeq Acc Id: ENSP00000502805   ⟸   ENST00000676372
Protein Domains
Melibiase_2_C

Promoters
RGD ID:6808879
Promoter ID:HG_KWN:67506
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057541
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,540,096 - 100,541,287 (-)MPROMDB
RGD ID:6808881
Promoter ID:HG_KWN:67507
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057542
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,541,901 - 100,542,401 (-)MPROMDB
RGD ID:6808887
Promoter ID:HG_KWN:67508
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000169,   NM_001032393,   OTTHUMT00000057543,   OTTHUMT00000057544,   OTTHUMT00000057545,   OTTHUMT00000057546,   OTTHUMT00000057556
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,549,476 - 100,550,327 (-)MPROMDB
RGD ID:6852050
Promoter ID:EP73831
Type:multiple initiation site
Name:HS_GLA
Description:Galactosidase, alpha.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,549,569 - 100,549,629EPD
RGD ID:13627630
Promoter ID:EPDNEW_H29091
Type:initiation region
Name:GLA_1
Description:galactosidase alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,407,925 - 101,407,985EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000169.2(GLA):c.402T>C (p.Tyr134=) single nucleotide variant Fabry disease [RCV000554551] ChrX:101401777 [GRCh38]
ChrX:100656765 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001199973.2(RPL36A-HNRNPH2):c.300+2357del deletion Fabry disease [RCV001175448]|not provided [RCV000522332] ChrX:101397814 [GRCh38]
ChrX:100652802 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.3(GLA):c.-10C>T single nucleotide variant Cardiomyopathy [RCV000029943]|Fabry disease [RCV000335296]|Hypertrophic cardiomyopathy [RCV000299108]|none provided [RCV001282747]|not provided [RCV000514920]|not specified [RCV000035296] ChrX:101407913 [GRCh38]
ChrX:100662901 [GRCh37]
ChrX:Xq22.1
association|benign
NM_000169.2(GLA):c.1175G>C (p.Arg392Thr) single nucleotide variant Fabry disease [RCV000627816] ChrX:101397924 [GRCh38]
ChrX:100652912 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.141G>C (p.Trp47Cys) single nucleotide variant Fabry disease [RCV000627817] ChrX:101407763 [GRCh38]
ChrX:100662751 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.3(GLA):c.275A>G (p.Asp92Gly) single nucleotide variant Fabry disease [RCV001290611] ChrX:101403905 [GRCh38]
ChrX:100658893 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.590G>A (p.Ser197Asn) single nucleotide variant Fabry disease [RCV000556372] ChrX:101400715 [GRCh38]
ChrX:100655703 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-4127A>G single nucleotide variant not provided [RCV000727580] ChrX:101407809 [GRCh38]
ChrX:100662797 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.6G>A (p.Gln2=) single nucleotide variant Fabry disease [RCV000544896]|not specified [RCV000611124] ChrX:101407898 [GRCh38]
ChrX:100662886 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001199973.2(RPL36A-HNRNPH2):c.301-4158C>G single nucleotide variant not provided [RCV000729336] ChrX:101407778 [GRCh38]
ChrX:100662766 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3104T>A single nucleotide variant not provided [RCV000729416] ChrX:101398561 [GRCh38]
ChrX:100653549 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) single nucleotide variant Fabry disease [RCV000011459] ChrX:101398033 [GRCh38]
ChrX:100653021 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GLA, EX3DEL deletion Fabry disease [RCV000011460] ChrX:Xq22 pathogenic
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) single nucleotide variant Cardiovascular phenotype [RCV000244581]|Fabry disease [RCV000011462]|Fabry disease, cardiac variant [RCV000011461]|Primary familial hypertrophic cardiomyopathy [RCV000845380]|not provided [RCV000723405] ChrX:101398467 [GRCh38]
ChrX:100653455 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4163C>T single nucleotide variant Fabry disease [RCV000011463] ChrX:101407773 [GRCh38]
ChrX:100662761 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.886A>G (p.Met296Val) single nucleotide variant Fabry disease [RCV001185735]|Fabry disease, cardiac variant [RCV000011464]|not provided [RCV000179267] ChrX:101398483 [GRCh38]
ChrX:100653471 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
GLA, EX4DEL deletion Fabry disease [RCV000011465] ChrX:Xq22 pathogenic
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) single nucleotide variant Fabry disease [RCV000011466]|not provided [RCV000729403] ChrX:101407786 [GRCh38]
ChrX:100662774 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.999+1G>T single nucleotide variant Fabry disease [RCV000011467] ChrX:101398369 [GRCh38]
ChrX:100653357 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3077G>C single nucleotide variant Fabry disease, cardiac variant [RCV000011468] ChrX:101398534 [GRCh38]
ChrX:100653522 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2930C>T single nucleotide variant Fabry disease [RCV000011469]|not provided [RCV000723846] ChrX:101398387 [GRCh38]
ChrX:100653375 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) single nucleotide variant Fabry disease [RCV000011471]|not provided [RCV000723530] ChrX:101407803 [GRCh38]
ChrX:100662791 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4198A>C single nucleotide variant Fabry disease [RCV000011472] ChrX:101407738 [GRCh38]
ChrX:100662726 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+6286G>A single nucleotide variant Fabry disease [RCV000011473] ChrX:101401743 [GRCh38]
ChrX:100656731 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+6256C>T single nucleotide variant Fabry disease [RCV000011474] ChrX:101401713 [GRCh38]
ChrX:100656701 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) single nucleotide variant Fabry disease [RCV000011475] ChrX:101401695 [GRCh38]
ChrX:100656683 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+5242A>C single nucleotide variant Fabry disease [RCV000011476] ChrX:101400699 [GRCh38]
ChrX:100655687 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) single nucleotide variant Cardiovascular phenotype [RCV000618059]|Fabry disease [RCV000011477]|Fabry disease [RCV000844705]|not provided [RCV000157896] ChrX:101398942 [GRCh38]
ChrX:100653930 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) single nucleotide variant Fabry disease [RCV000011478]|not provided [RCV000157898] ChrX:101398906 [GRCh38]
ChrX:100653894 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) single nucleotide variant Fabry disease [RCV000011479]|not provided [RCV000157897] ChrX:101398907 [GRCh38]
ChrX:100653895 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.791A>T (p.Asp264Val) single nucleotide variant Fabry disease [RCV000011480]|not provided [RCV000724649] ChrX:101398795 [GRCh38]
ChrX:100653783 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.797A>T (p.Asp266Val) single nucleotide variant Fabry disease [RCV000011481]|not provided [RCV000733417] ChrX:101398789 [GRCh38]
ChrX:100653777 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.806T>C (p.Val269Ala) single nucleotide variant Fabry disease [RCV000011482] ChrX:101398563 [GRCh38]
ChrX:100653551 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.861G>A (p.Trp287Ter) single nucleotide variant Fabry disease [RCV000011483] ChrX:101398508 [GRCh38]
ChrX:100653496 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3022G>A single nucleotide variant Fabry disease [RCV000011484] ChrX:101398479 [GRCh38]
ChrX:100653467 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.369+2T>G single nucleotide variant Fabry disease [RCV000011485] ChrX:101403809 [GRCh38]
ChrX:100658797 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) single nucleotide variant Cardiomyopathy [RCV000769536]|Cardiovascular phenotype [RCV000250525]|Fabry disease [RCV000011486]|Hypertrophic cardiomyopathy [RCV000346926]|Sudden unexplained death [RCV000172895]|none provided [RCV001283224]|not provided [RCV000487818]|not specified [RCV000035314] ChrX:101398432 [GRCh38]
ChrX:100653420 [GRCh37]
ChrX:Xq22.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_001199973.2(RPL36A-HNRNPH2):c.300+2933G>T single nucleotide variant Fabry disease [RCV000011487] ChrX:101398390 [GRCh38]
ChrX:100653378 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2929C>G single nucleotide variant Fabry disease [RCV000011488]|not provided [RCV000723545] ChrX:101398386 [GRCh38]
ChrX:100653374 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) single nucleotide variant Fabry disease [RCV000011489]|not provided [RCV000727594] ChrX:101398079 [GRCh38]
ChrX:100653067 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) single nucleotide variant Fabry disease [RCV000011490]|not provided [RCV000723455] ChrX:101398074 [GRCh38]
ChrX:100653062 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) single nucleotide variant Fabry disease [RCV000011491]|not provided [RCV000723730] ChrX:101398075 [GRCh38]
ChrX:100653063 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2561C>G single nucleotide variant Fabry disease [RCV000011492] ChrX:101398018 [GRCh38]
ChrX:100653006 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) single nucleotide variant Fabry disease [RCV000011493] ChrX:101397907 [GRCh38]
ChrX:100652895 [GRCh37]
ChrX:Xq22.1
pathogenic
GLA, IVS5AS, DEL -2,-3 deletion Fabry disease [RCV000011494] ChrX:Xq22 pathogenic
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) single nucleotide variant Cardiomyopathy [RCV000157242]|Cardiovascular phenotype [RCV000618614]|Fabry disease [RCV000011495]|Primary familial hypertrophic cardiomyopathy [RCV000845429]|not provided [RCV000224064]|not specified [RCV000211872] ChrX:101401752 [GRCh38]
ChrX:100656740 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001199973.2(RPL36A-HNRNPH2):c.301-4167_301-4155del deletion Fabry disease [RCV000011496] ChrX:101407767..101407779 [GRCh38]
ChrX:100662755..100662767 [GRCh37]
ChrX:Xq22.1
pathogenic
GLA, 1-BP DEL, NT716 deletion Fabry disease [RCV000011497] ChrX:Xq22 pathogenic
NM_000169.3:c.774_775del deletion Fabry disease [RCV000011498] ChrX:Xq22 pathogenic
NM_000169.3(GLA):c.950_954dup (p.Ile319fs) duplication Fabry disease [RCV000011499] ChrX:101398414..101398415 [GRCh38]
ChrX:100653402..100653403 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2615_300+2625del deletion Fabry disease [RCV000011500] ChrX:101398072..101398082 [GRCh38]
ChrX:100653060..100653070 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.3(GLA):c.1040dup (p.Leu347fs) duplication Fabry disease [RCV000011501] ChrX:101398058..101398059 [GRCh38]
ChrX:100653046..100653047 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2467_300+2519del deletion Fabry disease [RCV000011502] ChrX:101397923..101397975 [GRCh38]
ChrX:100652911..100652963 [GRCh37]
ChrX:Xq22.1
pathogenic
GLA, 2-BP DEL, NT1176 deletion Fabry disease [RCV000011503] ChrX:Xq22 pathogenic
GLA, 3-BP DEL, 1208AAG deletion Fabry disease [RCV000011504]|Fabry's disease [RCV000011504] ChrX:Xq22 pathogenic
NG_007119.1:g.5079_9735del deletion Fabry disease [RCV000011505] ChrX:Xq22 pathogenic
NG_007119.1:g.10472_13669del deletion Fabry disease [RCV000011506] ChrX:Xq22 pathogenic
GLA, EX3-7DEL deletion Fabry disease [RCV000011507] ChrX:Xq22 pathogenic
GLA, EX6-7DEL deletion Fabry disease [RCV000011508] ChrX:Xq22 pathogenic
GLA, EX2-6DUP duplication Fabry disease [RCV000011509] ChrX:Xq22 pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3024C>T single nucleotide variant Fabry disease, cardiac variant [RCV000011510] ChrX:101398481 [GRCh38]
ChrX:100653469 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.58G>C (p.Ala20Pro) single nucleotide variant Fabry disease, cardiac variant [RCV000011511] ChrX:101407846 [GRCh38]
ChrX:100662834 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2494_300+2496del deletion Fabry disease [RCV000011512] ChrX:101397950..101397952 [GRCh38]
ChrX:100652938..100652940 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4226C>G single nucleotide variant Fabry disease [RCV000011513] ChrX:101407710 [GRCh38]
ChrX:100662698 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2547A>T single nucleotide variant Fabry disease [RCV000011514] ChrX:101398004 [GRCh38]
ChrX:100652992 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.3(GLA):c.640-801G>A single nucleotide variant Cardiomyopathy [RCV000769537]|Fabry disease [RCV000154318]|Fabry disease [RCV000844706]|Fabry disease, cardiac variant [RCV000011515]|not provided [RCV000728949] ChrX:101399747 [GRCh38]
ChrX:100654735 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) single nucleotide variant Fabry disease [RCV000011516]|not provided [RCV000157890] ChrX:101401752 [GRCh38]
ChrX:100656740 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) single nucleotide variant Fabry disease [RCV000011517]|not provided [RCV000730382] ChrX:101398920 [GRCh38]
ChrX:100653908 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) single nucleotide variant Fabry disease [RCV000011518] ChrX:101397871 [GRCh38]
ChrX:100652859 [GRCh37]
ChrX:Xq22.1
pathogenic
GLA, 2-BP DEL, 1277AA deletion Fabry disease [RCV000011519]|Fabry's disease [RCV000011519] ChrX:Xq22 pathogenic
GLA, 4-BP DEL, 1284ACTT deletion Fabry disease [RCV000011520]|Fabry's disease [RCV000011520] ChrX:Xq22 pathogenic
NM_000169.2(GLA):c.815A>G (p.Asn272Ser) single nucleotide variant Fabry disease [RCV000011521] ChrX:101398554 [GRCh38]
ChrX:100653542 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000169.2(GLA):c.33C>T (p.Gly11=) single nucleotide variant Fabry disease [RCV000542080] ChrX:101407871 [GRCh38]
ChrX:100662859 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) single nucleotide variant Fabry disease [RCV000542303]|not provided [RCV000727447] ChrX:101401723 [GRCh38]
ChrX:100656711 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.3(GLA):c.-12G>A single nucleotide variant Fabry disease [RCV000299308]|Hypertrophic cardiomyopathy [RCV000406500]|not provided [RCV000675281]|not specified [RCV000035297] ChrX:101407915 [GRCh38]
ChrX:100662903 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.3(GLA):c.1000-14T>C single nucleotide variant not specified [RCV000035298] ChrX:101398113 [GRCh38]
ChrX:100653101 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) single nucleotide variant Fabry disease [RCV000463728]|not specified [RCV000035300] ChrX:101397997 [GRCh38]
ChrX:100652985 [GRCh37]
ChrX:Xq22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) single nucleotide variant Fabry disease [RCV000613255]|not specified [RCV000035301] ChrX:101397946 [GRCh38]
ChrX:100652934 [GRCh37]
ChrX:Xq22.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.129C>T (p.Gly43=) single nucleotide variant Cardiovascular phenotype [RCV000620829]|Fabry disease [RCV000470678]|not provided [RCV000587008]|not specified [RCV000035302] ChrX:101407775 [GRCh38]
ChrX:100662763 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) single nucleotide variant Cardiomyopathy [RCV000769541]|Cardiovascular phenotype [RCV000619869]|Fabry disease [RCV000078277]|not provided [RCV000723556]|not specified [RCV000035303] ChrX:101403828 [GRCh38]
ChrX:100658816 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.48T>G (p.Leu16=) single nucleotide variant Fabry disease [RCV000391328]|Hypertrophic cardiomyopathy [RCV000352576]|not specified [RCV000035304] ChrX:101407856 [GRCh38]
ChrX:100662844 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) single nucleotide variant Cardiomyopathy [RCV000769540]|Fabry disease [RCV000153322]|not provided [RCV000723986] ChrX:101400692 [GRCh38]
ChrX:100655680 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000169.3(GLA):c.639+6A>C single nucleotide variant Fabry disease [RCV001165639]|not specified [RCV000035306] ChrX:101400660 [GRCh38]
ChrX:100655648 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.640-854_640-853del microsatellite Cardiomyopathy [RCV000769538]|Fabry disease [RCV001274027]|none provided [RCV001283110]|not specified [RCV000035307] ChrX:101399799..101399800 [GRCh38]
ChrX:100654787..100654788 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) single nucleotide variant Cardiomyopathy [RCV000769544]|Fabry disease [RCV001274530]|not specified [RCV000035308] ChrX:101407834 [GRCh38]
ChrX:100662822 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.714T>C (p.Ser238=) single nucleotide variant Fabry disease [RCV001089401]|not provided [RCV000735194]|not specified [RCV000035309] ChrX:101398872 [GRCh38]
ChrX:100653860 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.724A>T (p.Ile242Phe) single nucleotide variant not specified [RCV000035310] ChrX:101398862 [GRCh38]
ChrX:100653850 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.3(GLA):c.729G>C (p.Leu243Phe) single nucleotide variant not specified [RCV000035311] ChrX:101398857 [GRCh38]
ChrX:100653845 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.3(GLA):c.801+14C>T single nucleotide variant not specified [RCV000035312] ChrX:101398771 [GRCh38]
ChrX:100653759 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) single nucleotide variant Cardiovascular phenotype [RCV000622119]|Deoxygalactonojirimycin response [RCV000209183]|Fabry disease [RCV000209748]|not specified [RCV000035313] ChrX:101407896 [GRCh38]
ChrX:100662884 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.3(GLA):c.945C>T (p.Asp315=) single nucleotide variant Fabry disease [RCV000557645]|not provided [RCV000585389]|not specified [RCV000035315] ChrX:101398424 [GRCh38]
ChrX:100653412 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000169.3(GLA):c.978G>A (p.Lys326=) single nucleotide variant Cardiovascular phenotype [RCV000618274]|Fabry disease [RCV000226702]|not specified [RCV000035316] ChrX:101398391 [GRCh38]
ChrX:100653379 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq22.1(chrX:101323599-101596196)x1 copy number loss See cases [RCV000051714] ChrX:101323599..101596196 [GRCh38]
ChrX:100465243..100737830 [NCBI36]
ChrX:Xq22.1
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
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
GRCh38/hg38 Xq22.1(chrX:101359634-101641294)x2 copy number gain See cases [RCV000054230] ChrX:101359634..101641294 [GRCh38]
ChrX:100501278..100782937 [NCBI36]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) single nucleotide variant Fabry disease [RCV001244524]|not provided [RCV000657873] ChrX:101398081 [GRCh38]
ChrX:100653069 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) insertion not provided [RCV000078259] ChrX:101398079..101398080 [GRCh38]
ChrX:100653067..100653068 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2] microsatellite Fabry disease [RCV000078263]|not provided [RCV000236755] ChrX:101398065..101398066 [GRCh38]
ChrX:100653053..100653054 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4151G>C single nucleotide variant not provided [RCV000078264] ChrX:101407785 [GRCh38]
ChrX:100662773 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2395T>G single nucleotide variant not provided [RCV000078265] ChrX:101397852 [GRCh38]
ChrX:100652840 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.2(GLA):c.125T>C (p.Met42Thr) single nucleotide variant Fabry disease [RCV000078266]|not provided [RCV000723538] ChrX:101407779 [GRCh38]
ChrX:100662767 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001199973.2(RPL36A-HNRNPH2):c.301-4164C>G single nucleotide variant not provided [RCV000078267] ChrX:101407772 [GRCh38]
ChrX:100662760 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-4169T>A single nucleotide variant not provided [RCV000078268] ChrX:101407767 [GRCh38]
ChrX:100662755 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4174C>G single nucleotide variant not provided [RCV000078269] ChrX:101407762 [GRCh38]
ChrX:100662750 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-4178C>G single nucleotide variant not provided [RCV000078270] ChrX:101407758 [GRCh38]
ChrX:100662746 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.195-1G>C single nucleotide variant not provided [RCV000078271] ChrX:101403986 [GRCh38]
ChrX:100658974 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4051C>A single nucleotide variant not provided [RCV000078272] ChrX:101407885 [GRCh38]
ChrX:100662873 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.242G>A (p.Trp81Ter) single nucleotide variant not provided [RCV000157886] ChrX:101403938 [GRCh38]
ChrX:100658926 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-8037C>T single nucleotide variant not provided [RCV000078274] ChrX:101403899 [GRCh38]
ChrX:100658887 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) single nucleotide variant Fabry disease [RCV000780291]|not provided [RCV000482440] ChrX:101403846 [GRCh38]
ChrX:100658834 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-8091C>A single nucleotide variant not provided [RCV000078276] ChrX:101403845 [GRCh38]
ChrX:100658833 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.369+5G>T single nucleotide variant not provided [RCV000078278] ChrX:101403806 [GRCh38]
ChrX:100658794 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+6213T>C single nucleotide variant not provided [RCV000078281] ChrX:101401670 [GRCh38]
ChrX:100656658 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.548-2A>G single nucleotide variant not provided [RCV000078282] ChrX:101400759 [GRCh38]
ChrX:100655747 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+5300C>A single nucleotide variant not provided [RCV000078283] ChrX:101400757 [GRCh38]
ChrX:100655745 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+5253C>T single nucleotide variant not provided [RCV000078284] ChrX:101400710 [GRCh38]
ChrX:100655698 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+5220del deletion not provided [RCV000078285] ChrX:101400675 [GRCh38]
ChrX:100655663 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.639+4A>T single nucleotide variant not provided [RCV000078286] ChrX:101400662 [GRCh38]
ChrX:100655650 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.2(GLA):c.640-16A>G single nucleotide variant not provided [RCV000675280]|not specified [RCV000078287] ChrX:101398962 [GRCh38]
ChrX:100653950 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.640-1G>T single nucleotide variant not provided [RCV000078288] ChrX:101398947 [GRCh38]
ChrX:100653935 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) single nucleotide variant Fabry disease [RCV000822976]|not provided [RCV000078290] ChrX:101398939 [GRCh38]
ChrX:100653927 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3466_300+3467del deletion not provided [RCV000078291] ChrX:101398923..101398924 [GRCh38]
ChrX:100653911..100653912 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3452C>T single nucleotide variant not provided [RCV000078292] ChrX:101398909 [GRCh38]
ChrX:100653897 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.734G>A (p.Trp245Ter) single nucleotide variant Fabry disease [RCV001193671]|not provided [RCV000078295] ChrX:101398852 [GRCh38]
ChrX:100653840 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3395C>A single nucleotide variant not provided [RCV000078296] ChrX:101398852 [GRCh38]
ChrX:100653840 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) single nucleotide variant Fabry disease [RCV000780290]|not provided [RCV000078297] ChrX:101398838 [GRCh38]
ChrX:100653826 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3089G>A single nucleotide variant not provided [RCV000078298] ChrX:101398546 [GRCh38]
ChrX:100653534 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3047T>A single nucleotide variant not provided [RCV000078299] ChrX:101398504 [GRCh38]
ChrX:100653492 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) single nucleotide variant Fabry disease [RCV000078300]|not provided [RCV000723759] ChrX:101398470 [GRCh38]
ChrX:100653458 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) single nucleotide variant Fabry disease [RCV000781418]|not provided [RCV000157879] ChrX:101398468 [GRCh38]
ChrX:100653456 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2954_300+2957del microsatellite not provided [RCV000078303] ChrX:101398407..101398410 [GRCh38]
ChrX:100653395..100653398 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2946G>C single nucleotide variant not provided [RCV000078304] ChrX:101398403 [GRCh38]
ChrX:100653391 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity
NM_001199973.2(RPL36A-HNRNPH2):c.300+2939C>T single nucleotide variant Fabry disease [RCV001337760]|not provided [RCV000078305] ChrX:101398396 [GRCh38]
ChrX:100653384 [GRCh37]
ChrX:Xq22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) single nucleotide variant Fabry disease [RCV000078306]|not provided [RCV000157881] ChrX:101398395 [GRCh38]
ChrX:100653383 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2915_300+2918del deletion not provided [RCV000078308] ChrX:101398370..101398373 [GRCh38]
ChrX:100653358..100653361 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000169.2(GLA):c.335G>A (p.Arg112His) single nucleotide variant Fabry disease [RCV000175540]|not provided [RCV000723466] ChrX:101403845 [GRCh38]
ChrX:100658833 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) single nucleotide variant Fabry disease [RCV000780293]|not provided [RCV000179268] ChrX:101398387 [GRCh38]
ChrX:100653375 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.124A>C (p.Met42Leu) single nucleotide variant Fabry disease [RCV000809963]|not provided [RCV000235742] ChrX:101407780 [GRCh38]
ChrX:100662768 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.2(GLA):c.137A>G (p.His46Arg) single nucleotide variant not provided [RCV000173078] ChrX:101407767 [GRCh38]
ChrX:100662755 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.194+17A>G single nucleotide variant not specified [RCV000247911] ChrX:101407693 [GRCh38]
ChrX:100662681 [GRCh37]
ChrX:Xq22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.187T>C (p.Cys63Arg) single nucleotide variant not specified [RCV001290654] ChrX:101407717 [GRCh38]
ChrX:100662705 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) single nucleotide variant not specified [RCV001290655] ChrX:101398479 [GRCh38]
ChrX:100653467 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.884T>G (p.Phe295Cys) single nucleotide variant Fabry disease [RCV001293628] ChrX:101398485 [GRCh38]
ChrX:100653473 [GRCh37]
ChrX:Xq22.1
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: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 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 Xp22.33