RPL36A-HNRNPH2 (RPL36A-HNRNPH2 readthrough) - Rat Genome Database

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Gene: RPL36A-HNRNPH2 (RPL36A-HNRNPH2 readthrough) Homo sapiens
Analyze
Symbol: RPL36A-HNRNPH2
Name: RPL36A-HNRNPH2 readthrough
RGD ID: 7243252
HGNC Page HGNC
Description: Predicted to be a structural constituent of ribosome. Predicted to be involved in translation. Localizes to cytosol; endoplasmic reticulum; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
RGD Orthologs
Dog
Pig
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 EnsemblX101,391,011 - 101,412,297 (+)EnsemblGRCh38hg38GRCh38
GRCh38X101,391,011 - 101,414,133 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,645,999 - 100,669,121 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic MapXq22.1NCBI
HuRefX90,452,171 - 90,475,016 (+)NCBIHuRef
CHM1_1X100,539,358 - 100,562,666 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
translation  (IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:16344560   PMID:20967262   PMID:28695742  


Genomics

Comparative Map Data
RPL36A-HNRNPH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,391,011 - 101,412,297 (+)EnsemblGRCh38hg38GRCh38
GRCh38X101,391,011 - 101,414,133 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,645,999 - 100,669,121 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic MapXq22.1NCBI
HuRefX90,452,171 - 90,475,016 (+)NCBIHuRef
CHM1_1X100,539,358 - 100,562,666 (+)NCBICHM1_1
LOC100687687
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1462,275,030 - 62,275,422 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha462,049,945 - 62,050,309 (+)NCBI
ROS_Cfam_1.0462,773,037 - 62,773,378 (+)NCBI
UMICH_Zoey_3.1462,548,222 - 62,548,614 (+)NCBI
UNSW_CanFamBas_1.0462,672,841 - 62,673,161 (+)NCBI
UU_Cfam_GSD_1.0463,199,589 - 63,199,930 (+)NCBI
RPL36A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX83,018,320 - 83,022,291 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X83,018,305 - 83,022,285 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Position Markers
STS-AA037456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,668,838 - 100,669,061UniSTSGRCh37
Build 36X100,555,494 - 100,555,717RGDNCBI36
CeleraX101,188,296 - 101,188,519RGD
Cytogenetic MapXq22UniSTS
HuRefX90,474,726 - 90,474,949UniSTS
GeneMap99-GB4 RH MapX271.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:517
Count of miRNA genes:307
Interacting mature miRNAs:329
Transcripts:ENST00000409170, ENST00000409338
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system appendage entire extraembryonic component pharyngeal arch
High
Medium 7 7 3 2 3 1 2 4 26 1 18 5 4 1 2 2
Low 100 1 39 25 238 25 129 39 52 67 139 144 4 1 2
Below cutoff 86 9 175 124 184 127 148 20 70 194 116 200 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000409170   ⟹   ENSP00000386655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,391,012 - 101,412,165 (+)Ensembl
RefSeq Acc Id: ENST00000409338   ⟹   ENSP00000386974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,391,011 - 101,412,297 (+)Ensembl
RefSeq Acc Id: NM_001199973   ⟹   NP_001186902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,391,011 - 101,414,133 (+)NCBI
GRCh37X100,645,878 - 100,669,128 (+)NCBI
HuRefX90,452,171 - 90,475,016 (+)NCBI
CHM1_1X100,539,358 - 100,562,666 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199974   ⟹   NP_001186903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,391,011 - 101,414,133 (+)NCBI
GRCh37X100,645,878 - 100,669,128 (+)NCBI
HuRefX90,452,171 - 90,475,016 (+)NCBI
CHM1_1X100,539,358 - 100,562,666 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001186902 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186903 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001186902   ⟸   NM_001199973
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001186903   ⟸   NM_001199974
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: ENSP00000386974   ⟸   ENST00000409338
RefSeq Acc Id: ENSP00000386655   ⟸   ENST00000409170


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000169.2(GLA):c.476T>G (p.Phe159Cys) single nucleotide variant Fabry disease [RCV000554768] ChrX:101401703 [GRCh38]
ChrX:100656691 [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_019597.5(HNRNPH2):c.573del (p.Arg192fs) deletion not provided [RCV000519552] ChrX:101412560 [GRCh38]
ChrX:100667548 [GRCh37]
ChrX:Xq22.1
uncertain significance
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_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_000169.2(GLA):c.290C>T (p.Ala97Val) single nucleotide variant Fabry disease [RCV000796776]|not provided [RCV000729402] ChrX:101403890 [GRCh38]
ChrX:100658878 [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_000169.2(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_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
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: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: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: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 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: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: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.640-16A>G single nucleotide variant not provided [RCV000675280]|not specified [RCV000078287] ChrX:101398962 [GRCh38]
ChrX:100653950 [GRCh37]
ChrX:Xq22.1
benign
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
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
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_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
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.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.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
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
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_000169.3(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
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.640-1G>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
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_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) single nucleotide variant Mental retardation, X-linked, syndromic, Bain type [RCV000256185]|not provided [RCV000509012] ChrX:101412605 [GRCh38]
ChrX:100667593 [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.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_000169.2(GLA):c.695T>G (p.Ile232Ser) single nucleotide variant not provided [RCV000723403] ChrX:101398891 [GRCh38]
ChrX:100653879 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) single nucleotide variant Inborn genetic diseases [RCV000623824]|Mental retardation, X-linked, syndromic, Bain type [RCV000256179]|Neurodevelopmental disorder [RCV001195298]|not provided [RCV000509011] ChrX:101412604 [GRCh38]
ChrX:100667592 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
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
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) single nucleotide variant not provided [RCV000302760] ChrX:101401710 [GRCh38]
ChrX:100656698 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) single nucleotide variant Fabry disease [RCV000176999]|not provided [RCV000723475] ChrX:101401694 [GRCh38]
ChrX:100656682 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+5228T>C single nucleotide variant not provided [RCV000178050] ChrX:101400685 [GRCh38]
ChrX:100655673 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3425G>C single nucleotide variant not provided [RCV000178723] ChrX:101398882 [GRCh38]
ChrX:100653870 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) single nucleotide variant Fabry disease [RCV001036876]|not provided [RCV000178724] ChrX:101398925 [GRCh38]
ChrX:100653913 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801+3A>G single nucleotide variant Fabry disease [RCV001194307]|not provided [RCV000178725] ChrX:101398782 [GRCh38]
ChrX:100653770 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2996G>A single nucleotide variant not provided [RCV000179266] ChrX:101398453 [GRCh38]
ChrX:100653441 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3032_300+3033delinsGATT indel not provided [RCV000179269] ChrX:101398489..101398490 [GRCh38]
ChrX:100653477..100653478 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) single nucleotide variant Fabry disease [RCV001048991]|not provided [RCV000179727] ChrX:101398027 [GRCh38]
ChrX:100653015 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) single nucleotide variant Fabry disease [RCV000792067]|not provided [RCV000179728] ChrX:101397942 [GRCh38]
ChrX:100652930 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) single nucleotide variant Fabry disease [RCV001249019]|not provided [RCV000179729] ChrX:101398012 [GRCh38]
ChrX:100653000 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) deletion Fabry disease [RCV000781423]|not provided [RCV000179730] ChrX:101397863..101397864 [GRCh38]
ChrX:100652851..100652852 [GRCh37]
ChrX:Xq22.1
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.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.369+1G>A single nucleotide variant Fabry disease [RCV001293581]|not provided [RCV000175538] ChrX:101403810 [GRCh38]
ChrX:100658798 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-8115_301-8112del microsatellite not provided [RCV000175539] ChrX:101403816..101403819 [GRCh38]
ChrX:100658804..100658807 [GRCh37]
ChrX:Xq22.1
pathogenic
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_000169.2(GLA):c.1192G>A (p.Glu398Lys) single nucleotide variant Fabry disease [RCV001188455]|not provided [RCV000514846] ChrX:101397907 [GRCh38]
ChrX:100652895 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.824_825del (p.Leu275fs) deletion Fabry disease [RCV001293579] ChrX:101398544..101398545 [GRCh38]
ChrX:100653532..100653533 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.3(GLA):c.56T>A (p.Leu19Gln) single nucleotide variant not specified [RCV001293632] ChrX:101407848 [GRCh38]
ChrX:100662836 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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: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
NM_000169.3(GLA):c.409G>T (p.Val137Phe) single nucleotide variant not specified [RCV001194308] ChrX:101401770 [GRCh38]
ChrX:100656758 [GRCh37]
ChrX:Xq22.1
uncertain significance
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)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
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: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: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 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 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 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 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 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 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 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: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 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 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 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 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 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 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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
NM_000169.2(GLA):c.-30G>A single nucleotide variant Fabry disease [RCV000202987] ChrX:101407933 [GRCh38]
ChrX:100662921 [GRCh37]
ChrX:Xq22.1
association|benign|likely benign|conflicting interpretations of pathogenicity
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 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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
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 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: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 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+2618G>C single nucleotide variant not provided [RCV000153315] ChrX:101398075 [GRCh38]
ChrX:100653063 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T single nucleotide variant not provided [RCV000153319] ChrX:101398856 [GRCh38]
ChrX:100653844 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) single nucleotide variant Fabry disease [RCV000153320]|not provided [RCV000723942] ChrX:101398928 [GRCh38]
ChrX:100653916 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) single nucleotide variant Deoxygalactonojirimycin response [RCV000209729]|Fabry disease [RCV000153323]|not provided [RCV000723576] ChrX:101400712 [GRCh38]
ChrX:100655700 [GRCh37]
ChrX:Xq22.1
likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.3(GLA):c.178C>A (p.Pro60Thr) single nucleotide variant not specified [RCV000155963] ChrX:101407726 [GRCh38]
ChrX:100662714 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT indel Fabry disease [RCV000156088] ChrX:101398565..101398570 [GRCh38]
ChrX:100653553..100653558 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.3(GLA):c.643A>C (p.Asn215His) single nucleotide variant not specified [RCV000156120] ChrX:101398943 [GRCh38]
ChrX:100653931 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) single nucleotide variant Fabry disease [RCV000823627]|not specified [RCV000156338] ChrX:101398468 [GRCh38]
ChrX:100653456 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.3(GLA):c.630C>T (p.Pro210=) single nucleotide variant not specified [RCV000150747] ChrX:101400675 [GRCh38]
ChrX:100655663 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) single nucleotide variant Fabry disease [RCV000150748] ChrX:101401793 [GRCh38]
ChrX:100656781 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.3(GLA):c.28C>T (p.Leu10=) single nucleotide variant not specified [RCV000150751] ChrX:101407876 [GRCh38]
ChrX:100662864 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.3(GLA):c.-8C>G single nucleotide variant Cardiomyopathy [RCV000769545]|Fabry disease [RCV000771895]|not provided [RCV000586695]|not specified [RCV000150752] ChrX:101407911 [GRCh38]
ChrX:100662899 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance|not provided
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) single nucleotide variant Fabry disease [RCV001188631]|not specified [RCV000156492] ChrX:101403860 [GRCh38]
ChrX:100658848 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) single nucleotide variant Fabry disease [RCV000154469]|Fabry disease [RCV000844704]|not provided [RCV000727357] ChrX:101397982 [GRCh38]
ChrX:100652970 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.3(GLA):c.485G>T (p.Trp162Leu) single nucleotide variant not specified [RCV000154471] ChrX:101401694 [GRCh38]
ChrX:100656682 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) single nucleotide variant not specified [RCV000154518] ChrX:101398540 [GRCh38]
ChrX:100653528 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) single nucleotide variant Deoxygalactonojirimycin response [RCV000209285]|Fabry disease [RCV000209022]|not specified [RCV000156824] ChrX:101398828 [GRCh38]
ChrX:100653816 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|drug response|uncertain significance
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) single nucleotide variant Cardiovascular phenotype [RCV000621570]|Fabry disease [RCV000203179]|not provided [RCV000782202]|not specified [RCV000150749] ChrX:101401803 [GRCh38]
ChrX:100656791 [GRCh37]
ChrX:Xq22.1
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) single nucleotide variant Fabry disease [RCV000822343]|not provided [RCV000728539]|not specified [RCV000150750] ChrX:101403984 [GRCh38]
ChrX:100658972 [GRCh37]
ChrX:Xq22.1
association|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G single nucleotide variant not provided [RCV000153316] ChrX:101398076 [GRCh38]
ChrX:100653064 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.802-2A>G single nucleotide variant not provided [RCV000153318] ChrX:101398569 [GRCh38]
ChrX:100653557 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.128del (p.Gly43fs) deletion Fabry disease [RCV001193673]|not provided [RCV000153325] ChrX:101407776 [GRCh38]
ChrX:100662764 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
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_000169.2(GLA):c.619T>C (p.Tyr207His) single nucleotide variant Fabry disease [RCV000798173]|not provided [RCV000418558] ChrX:101400686 [GRCh38]
ChrX:100655674 [GRCh37]
ChrX:Xq22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.2(GLA):c.400T>G (p.Tyr134Asp) single nucleotide variant not provided [RCV000153324]|not specified [RCV000780292] ChrX:101401779 [GRCh38]
ChrX:100656767 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) single nucleotide variant Fabry disease [RCV000590949]|not specified [RCV000157874] ChrX:101398378 [GRCh38]
ChrX:100653366 [GRCh37]
ChrX:Xq22.1
likely benign|uncertain significance
NM_000169.2(GLA):c.721A>G (p.Ser241Gly) single nucleotide variant not specified [RCV000157877] ChrX:101398865 [GRCh38]
ChrX:100653853 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.961C>G (p.Gln321Glu) single nucleotide variant Fabry disease [RCV001193045] ChrX:101398408 [GRCh38]
ChrX:100653396 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.1019G>A (p.Trp340Ter) single nucleotide variant Fabry disease [RCV000207992]|not provided [RCV000157882] ChrX:101398080 [GRCh38]
ChrX:100653068 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) single nucleotide variant not provided [RCV000157883] ChrX:101398014 [GRCh38]
ChrX:100653002 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.2(GLA):c.1229C>A (p.Thr410Lys) single nucleotide variant Fabry disease [RCV001269207] ChrX:101397870 [GRCh38]
ChrX:100652858 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-7991C>A single nucleotide variant not provided [RCV000733596] ChrX:101403945 [GRCh38]
ChrX:100658933 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370-2A>G single nucleotide variant not provided [RCV000157887] ChrX:101401811 [GRCh38]
ChrX:100656799 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.505T>A (p.Phe169Ile) single nucleotide variant not provided [RCV000157891] ChrX:101401674 [GRCh38]
ChrX:100656662 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.112A>G (p.Arg38Gly) single nucleotide variant not provided [RCV000157892] ChrX:101407792 [GRCh38]
ChrX:100662780 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.548-1G>A single nucleotide variant not provided [RCV000157893] ChrX:101400758 [GRCh38]
ChrX:100655746 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.616C>G (p.Leu206Val) single nucleotide variant not provided [RCV000157894] ChrX:101400689 [GRCh38]
ChrX:100655677 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.621T>A (p.Tyr207Ter) single nucleotide variant not provided [RCV000157895] ChrX:101400684 [GRCh38]
ChrX:100655672 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) single nucleotide variant Fabry disease [RCV000781420]|not provided [RCV000157899] ChrX:101398873 [GRCh38]
ChrX:100653861 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801G>A (p.Met267Ile) single nucleotide variant Fabry disease [RCV000627818]|not provided [RCV000157900] ChrX:101398785 [GRCh38]
ChrX:100653773 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.847C>T (p.Gln283Ter) single nucleotide variant not provided [RCV000157902] ChrX:101398522 [GRCh38]
ChrX:100653510 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) deletion Fabry disease [RCV000815405]|not provided [RCV000157903] ChrX:101398025..101398027 [GRCh38]
ChrX:100653013..100653015 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4110del deletion not provided [RCV000157904] ChrX:101407824 [GRCh38]
ChrX:100662812 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.41T>C (p.Leu14Pro) single nucleotide variant Fabry disease [RCV001192396]|not provided [RCV000734825] ChrX:101407863 [GRCh38]
ChrX:100662851 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2933G>A single nucleotide variant not provided [RCV000399330] ChrX:101398390 [GRCh38]
ChrX:100653378 [GRCh37]
ChrX:Xq22.1
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
NM_000169.2(GLA):c.802-3_802-2del deletion not provided [RCV000153317] ChrX:101398569..101398570 [GRCh38]
ChrX:100653557..100653558 [GRCh37]
ChrX:Xq22.1
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
NM_000169.2(GLA):c.195-1G>T single nucleotide variant Fabry disease [RCV000763197]|not provided [RCV000291619] ChrX:101403986 [GRCh38]
ChrX:100658974 [GRCh37]
ChrX:Xq22.1
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
NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) single nucleotide variant Fabry disease [RCV000208140] ChrX:101397870 [GRCh38]
ChrX:100652858 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3090del deletion Fabry disease [RCV000208327] ChrX:101398546 [GRCh38]
ChrX:100653534 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) single nucleotide variant Deoxygalactonojirimycin response [RCV000208881]|Fabry disease [RCV000209559]|Familial hypertrophic cardiomyopathy 1 [RCV001256949]|not provided [RCV000782201] ChrX:101397903 [GRCh38]
ChrX:100652891 [GRCh37]
ChrX:Xq22.1
likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) single nucleotide variant Deoxygalactonojirimycin response [RCV000209041]|Fabry disease [RCV000209598] ChrX:101403968 [GRCh38]
ChrX:100658956 [GRCh37]
ChrX:Xq22.1
drug response|uncertain significance
NM_000169.3(GLA):c.865A>G (p.Ile289Val) single nucleotide variant Deoxygalactonojirimycin response [RCV000209181]|Fabry disease [RCV000209743]|not specified [RCV000236089] ChrX:101398504 [GRCh38]
ChrX:100653492 [GRCh37]
ChrX:Xq22.1
benign|likely benign|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.680G>C (p.Arg227Pro) single nucleotide variant Deoxygalactonojirimycin response [RCV000209334]|Fabry disease [RCV000208950] ChrX:101398906 [GRCh38]
ChrX:100653894 [GRCh37]
ChrX:Xq22.1
pathogenic|drug response
NM_000169.2(GLA):c.806T>G (p.Val269Gly) single nucleotide variant Deoxygalactonojirimycin response [RCV000209357]|Fabry disease [RCV000209091] ChrX:101398563 [GRCh38]
ChrX:100653551 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.937G>A (p.Asp313Asn) single nucleotide variant Deoxygalactonojirimycin response [RCV000209542]|Fabry disease [RCV000209154] ChrX:101398432 [GRCh38]
ChrX:100653420 [GRCh37]
ChrX:Xq22.1
drug response|uncertain significance
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) single nucleotide variant Deoxygalactonojirimycin response [RCV000209589]|Fabry disease [RCV000209198] ChrX:101403819 [GRCh38]
ChrX:100658807 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.724A>G (p.Ile242Val) single nucleotide variant Deoxygalactonojirimycin response [RCV000209695]|Fabry disease [RCV000209315]|not provided [RCV000441727] ChrX:101398862 [GRCh38]
ChrX:100653850 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) single nucleotide variant Deoxygalactonojirimycin response [RCV000209815]|Fabry disease [RCV000209421]|not provided [RCV000732705]|not specified [RCV000993846] ChrX:101403941 [GRCh38]
ChrX:100658929 [GRCh37]
ChrX:Xq22.1
likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.1078G>A (p.Gly360Ser) single nucleotide variant Fabry disease [RCV000207528] ChrX:101398021 [GRCh38]
ChrX:100653009 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.890C>G (p.Ser297Cys) single nucleotide variant not provided [RCV000277132] ChrX:101398479 [GRCh38]
ChrX:100653467 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.2(GLA):c.-15C>T single nucleotide variant Fabry disease [RCV001189356] ChrX:101407918 [GRCh38]
ChrX:100662906 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.966C>A (p.Asp322Glu) single nucleotide variant Fabry disease [RCV000780289]|not provided [RCV000367678] ChrX:101398403 [GRCh38]
ChrX:100653391 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1095T>C (p.Tyr365=) single nucleotide variant not provided [RCV000929045]|not specified [RCV000242527] ChrX:101398004 [GRCh38]
ChrX:100652992 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.2(GLA):c.-88T>C single nucleotide variant Fabry disease [RCV000207554] ChrX:101407991 [GRCh38]
ChrX:100662979 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) single nucleotide variant Fabry disease [RCV000587942] ChrX:101397855 [GRCh38]
ChrX:100652843 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.548-281C>T single nucleotide variant Fabry disease [RCV000207563] ChrX:101401038 [GRCh38]
ChrX:100656026 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.902G>C (p.Arg301Pro) single nucleotide variant Fabry disease [RCV000207567] ChrX:101398467 [GRCh38]
ChrX:100653455 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370-79G>C single nucleotide variant Fabry disease [RCV000207568] ChrX:101401888 [GRCh38]
ChrX:100656876 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.124A>G (p.Met42Val) single nucleotide variant Fabry disease [RCV001063224]|not provided [RCV000727558] ChrX:101407780 [GRCh38]
ChrX:100662768 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.-13G>A single nucleotide variant Fabry disease [RCV000207583] ChrX:101407916 [GRCh38]
ChrX:100662904 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.548-325G>A single nucleotide variant Fabry disease [RCV000207586] ChrX:101401082 [GRCh38]
ChrX:100656070 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.195_369del175 (p.Ser65Argfs) deletion Fabry disease [RCV000207591] ChrX:101403811..101403985 [GRCh38]
ChrX:100658799..100658973 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.762_763ins282 (p.?) insertion Fabry disease [RCV000207597] ChrX:101398823..101398824 [GRCh38]
ChrX:100653811..100653812 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.868A>C (p.Met290Leu) single nucleotide variant Fabry disease [RCV000545099]|not provided [RCV000786316] ChrX:101398501 [GRCh38]
ChrX:100653489 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.2(GLA):c.1196G>A (p.Trp399Ter) single nucleotide variant Fabry disease [RCV000207600] ChrX:101397903 [GRCh38]
ChrX:100652891 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.640-749C>T single nucleotide variant not provided [RCV000839490] ChrX:101399695 [GRCh38]
ChrX:100654683 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.2(GLA):c.-40G>C single nucleotide variant Fabry disease [RCV000207605] ChrX:101407943 [GRCh38]
ChrX:100662931 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.802-42T>C single nucleotide variant Fabry disease [RCV000207607] ChrX:101398609 [GRCh38]
ChrX:100653597 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.-44C>T single nucleotide variant none provided [RCV001285960]|not provided [RCV000827826] ChrX:101407947 [GRCh38]
ChrX:100662935 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.639+68A>G single nucleotide variant Fabry disease [RCV000207621] ChrX:101400598 [GRCh38]
ChrX:100655586 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.802-6T>A single nucleotide variant Fabry disease [RCV000207627] ChrX:101398573 [GRCh38]
ChrX:100653561 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.194+45T>C single nucleotide variant Fabry disease [RCV000207633] ChrX:101407665 [GRCh38]
ChrX:100662653 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.463G>C (p.Asp155His) single nucleotide variant Fabry disease [RCV000207634] ChrX:101401716 [GRCh38]
ChrX:100656704 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) single nucleotide variant Fabry disease [RCV000771419] ChrX:101398831 [GRCh38]
ChrX:100653819 [GRCh37]
ChrX:Xq22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.2(GLA):c.123C>T (p.Thr41=) single nucleotide variant Cardiomyopathy [RCV000769543]|Cardiovascular phenotype [RCV000620993]|Fabry disease [RCV000771998]|not provided [RCV001311092]|not specified [RCV000430508] ChrX:101407781 [GRCh38]
ChrX:100662769 [GRCh37]
ChrX:Xq22.1
benign|likely benign|uncertain significance
NM_000169.2(GLA):c.999+100C>G single nucleotide variant Fabry disease [RCV000207663] ChrX:101398270 [GRCh38]
ChrX:100653258 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.640-3C>G single nucleotide variant Fabry disease [RCV000207668] ChrX:101398949 [GRCh38]
ChrX:100653937 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.946G>A (p.Val316Ile) single nucleotide variant Fabry disease [RCV000207669] ChrX:101398423 [GRCh38]
ChrX:100653411 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.-105A>G single nucleotide variant Fabry disease [RCV000305260]|Hypertrophic cardiomyopathy [RCV000264001]|not provided [RCV000675282] ChrX:101408008 [GRCh38]
ChrX:100662996 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.2(GLA):c.501A>T (p.Leu167=) single nucleotide variant not specified [RCV000616390] ChrX:101401678 [GRCh38]
ChrX:100656666 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.13A>G (p.Asn5Asp) single nucleotide variant Fabry disease [RCV001190922] ChrX:101407891 [GRCh38]
ChrX:100662879 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) single nucleotide variant Fabry disease [RCV000471970]|not provided [RCV000596614] ChrX:101403933 [GRCh38]
ChrX:100658921 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.639+18G>A single nucleotide variant Fabry disease [RCV000207690] ChrX:101400648 [GRCh38]
ChrX:100655636 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1078G>C (p.Gly360Arg) single nucleotide variant not provided [RCV000728585] ChrX:101398021 [GRCh38]
ChrX:100653009 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.2(GLA):c.548-141G>A single nucleotide variant Fabry disease [RCV000207695] ChrX:101400898 [GRCh38]
ChrX:100655886 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.122C>G (p.Thr41Ser) single nucleotide variant Fabry disease [RCV001181362] ChrX:101407782 [GRCh38]
ChrX:100662770 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.1025G>C (p.Arg342Pro) single nucleotide variant Fabry disease [RCV000207707] ChrX:101398074 [GRCh38]
ChrX:100653062 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.902G>T (p.Arg301Leu) single nucleotide variant Fabry disease [RCV000207714] ChrX:101398467 [GRCh38]
ChrX:100653455 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.370-80A>C single nucleotide variant Fabry disease [RCV000207721] ChrX:101401889 [GRCh38]
ChrX:100656877 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.747C>A (p.Asn249Lys) single nucleotide variant Fabry disease [RCV000207722] ChrX:101398839 [GRCh38]
ChrX:100653827 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.370-81_370-77del deletion not provided [RCV000834591]|not specified [RCV000345580] ChrX:101401886..101401890 [GRCh38]
ChrX:100656874..100656878 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.-28A>G single nucleotide variant Fabry disease [RCV000207740] ChrX:101407931 [GRCh38]
ChrX:100662919 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1000-55_1000-52del deletion Fabry disease [RCV000207742] ChrX:101398151..101398154 [GRCh38]
ChrX:100653139..100653142 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.548-52C>T single nucleotide variant Fabry disease [RCV000207744] ChrX:101400809 [GRCh38]
ChrX:100655797 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) single nucleotide variant Cardiovascular phenotype [RCV000253073]|Fabry disease [RCV000526024]|not specified [RCV000418773] ChrX:101401763 [GRCh38]
ChrX:100656751 [GRCh37]
ChrX:Xq22.1
pathogenic|likely benign|uncertain significance
NM_000169.2(GLA):c.369+1G>T single nucleotide variant Fabry disease [RCV000207759] ChrX:101403810 [GRCh38]
ChrX:100658798 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1088G>A (p.Arg363His) single nucleotide variant Fabry disease [RCV000398396]|not provided [RCV000724675] ChrX:101398011 [GRCh38]
ChrX:100652999 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370_547del178 (p.His125Ilefs) deletion Fabry disease [RCV000207765] ChrX:101401632..101401809 [GRCh38]
ChrX:100656620..100656797 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.-43C>G single nucleotide variant Fabry disease [RCV000207773] ChrX:101407946 [GRCh38]
ChrX:100662934 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.802-67G>A single nucleotide variant Fabry disease [RCV000207775] ChrX:101398634 [GRCh38]
ChrX:100653622 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.548-101T>A single nucleotide variant Fabry disease [RCV000207789] ChrX:101400858 [GRCh38]
ChrX:100655846 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.548-142C>A single nucleotide variant Fabry disease [RCV000207793] ChrX:101400899 [GRCh38]
ChrX:100655887 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.465T>C (p.Asp155=) single nucleotide variant Fabry disease [RCV001187828] ChrX:101401714 [GRCh38]
ChrX:100656702 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.2(GLA):c.195-30T>A single nucleotide variant Fabry disease [RCV000207799] ChrX:101404015 [GRCh38]
ChrX:100659003 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.801+3A>T single nucleotide variant Fabry disease [RCV000207806] ChrX:101398782 [GRCh38]
ChrX:100653770 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.639+715C>T single nucleotide variant Fabry disease [RCV000207808] ChrX:101399951 [GRCh38]
ChrX:100654939 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.983G>T (p.Gly328Val) single nucleotide variant Fabry disease [RCV000207809] ChrX:101398386 [GRCh38]
ChrX:100653374 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.639+771C>T single nucleotide variant Fabry disease [RCV000207811] ChrX:101399895 [GRCh38]
ChrX:100654883 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1145G>A (p.Cys382Tyr) single nucleotide variant Fabry disease [RCV000207814] ChrX:101397954 [GRCh38]
ChrX:100652942 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.-125T>G single nucleotide variant Fabry disease [RCV000290094]|Hypertrophic cardiomyopathy [RCV000349751] ChrX:101408028 [GRCh38]
ChrX:100663016 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1000-22C>T single nucleotide variant not provided [RCV000675279]|not specified [RCV000250822] ChrX:101398121 [GRCh38]
ChrX:100653109 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.875C>T (p.Ala292Val) single nucleotide variant Fabry disease [RCV000207845] ChrX:101398494 [GRCh38]
ChrX:100653482 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1079G>A (p.Gly360Asp) single nucleotide variant Fabry disease [RCV000207855] ChrX:101398020 [GRCh38]
ChrX:100653008 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.419A>C (p.Lys140Thr) single nucleotide variant Fabry disease [RCV001221259] ChrX:101401760 [GRCh38]
ChrX:100656748 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.2(GLA):c.-88T>A single nucleotide variant Fabry disease [RCV000207868] ChrX:101407991 [GRCh38]
ChrX:100662979 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.370-46G>A single nucleotide variant Fabry disease [RCV000207871] ChrX:101401855 [GRCh38]
ChrX:100656843 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.548-162A>T single nucleotide variant Fabry disease [RCV000207874] ChrX:101400919 [GRCh38]
ChrX:100655907 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.334C>A (p.Arg112Ser) single nucleotide variant Fabry disease [RCV000207878] ChrX:101403846 [GRCh38]
ChrX:100658834 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.572T>C (p.Leu191Pro) single nucleotide variant Fabry disease [RCV000207881] ChrX:101400733 [GRCh38]
ChrX:100655721 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801+11G>C single nucleotide variant Fabry disease [RCV000207884] ChrX:101398774 [GRCh38]
ChrX:100653762 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.834T>A (p.Asn278Lys) single nucleotide variant Fabry disease [RCV000207890] ChrX:101398535 [GRCh38]
ChrX:100653523 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.639+761G>A single nucleotide variant Fabry disease [RCV000207896] ChrX:101399905 [GRCh38]
ChrX:100654893 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.353G>A (p.Arg118His) single nucleotide variant Fabry disease [RCV000207899] ChrX:101403827 [GRCh38]
ChrX:100658815 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.606T>A (p.Cys202Ter) single nucleotide variant Fabry disease [RCV000207904] ChrX:101400699 [GRCh38]
ChrX:100655687 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.195T>C (p.Ser65=) single nucleotide variant Fabry disease [RCV000207905] ChrX:101403985 [GRCh38]
ChrX:100658973 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.369+15A>T single nucleotide variant Fabry disease [RCV000207906] ChrX:101403796 [GRCh38]
ChrX:100658784 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.790G>T (p.Asp264Tyr) single nucleotide variant Fabry disease [RCV000589425] ChrX:101398796 [GRCh38]
ChrX:100653784 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.281G>C (p.Cys94Ser) single nucleotide variant Fabry disease [RCV000207925] ChrX:101403899 [GRCh38]
ChrX:100658887 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.640-722T>C single nucleotide variant Fabry disease [RCV000207926] ChrX:101399668 [GRCh38]
ChrX:100654656 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.967C>A (p.Pro323Thr) single nucleotide variant Fabry disease [RCV001348930]|not provided [RCV000236831] ChrX:101398402 [GRCh38]
ChrX:100653390 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.-44C>G single nucleotide variant not specified [RCV000442422] ChrX:101407947 [GRCh38]
ChrX:100662935 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.548G>C (p.Gly183Ala) single nucleotide variant Fabry disease [RCV000207942] ChrX:101400757 [GRCh38]
ChrX:100655745 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.-573C>G single nucleotide variant Fabry disease [RCV000207943] ChrX:101408476 [GRCh38]
ChrX:100663464 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.548-125C>G single nucleotide variant Fabry disease [RCV000207949] ChrX:101400882 [GRCh38]
ChrX:100655870 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.548-142C>T single nucleotide variant Fabry disease [RCV000207952] ChrX:101400899 [GRCh38]
ChrX:100655887 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.370-28G>A single nucleotide variant Fabry disease [RCV000207954] ChrX:101401837 [GRCh38]
ChrX:100656825 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.639+739C>T single nucleotide variant not provided [RCV000836826] ChrX:101399927 [GRCh38]
ChrX:100654915 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.801+36G>A single nucleotide variant Fabry disease [RCV000207957] ChrX:101398749 [GRCh38]
ChrX:100653737 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.*33G>T single nucleotide variant Fabry disease [RCV000207960] ChrX:101397776 [GRCh38]
ChrX:100652764 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.330T>G (p.Pro110=) single nucleotide variant Fabry disease [RCV001186765] ChrX:101403850 [GRCh38]
ChrX:100658838 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1239T>C (p.Val413=) single nucleotide variant Fabry disease [RCV000207963] ChrX:101397860 [GRCh38]
ChrX:100652848 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.639+796C>A single nucleotide variant Fabry disease [RCV000207973] ChrX:101399870 [GRCh38]
ChrX:100654858 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.370-93T>C single nucleotide variant Fabry disease [RCV000207974] ChrX:101401902 [GRCh38]
ChrX:100656890 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1000_*18del309 deletion Fabry disease [RCV000207978] ChrX:101397791..101398099 [GRCh38]
ChrX:100652779..100653087 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.639+18del deletion Fabry disease [RCV000207523] ChrX:101400648 [GRCh38]
ChrX:100655636 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.35_58del24 (p.Cys12_Ala20delinsSer) deletion Fabry disease [RCV000207526] ChrX:101407846..101407869 [GRCh38]
ChrX:100662834..100662857 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1193_1196delAATG (p.Glu398Glyfs) deletion Fabry disease [RCV000207529] ChrX:101397903..101397906 [GRCh38]
ChrX:100652891..100652894 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.508G>A (p.Asp170Asn) single nucleotide variant Fabry disease [RCV000207530] ChrX:101401671 [GRCh38]
ChrX:100656659 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.413delG (p.Gly138Glufs) deletion Fabry disease [RCV000207532] ChrX:101401766 [GRCh38]
ChrX:100656754 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.788A>G (p.Asn263Ser) single nucleotide variant Fabry disease [RCV000207533] ChrX:101398798 [GRCh38]
ChrX:100653786 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.260delA (p.Glu87Glyfs) deletion Fabry disease [RCV000207534] ChrX:101403920 [GRCh38]
ChrX:100658908 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.640-673T>C single nucleotide variant Fabry disease [RCV000207538] ChrX:101399619 [GRCh38]
ChrX:100654607 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.723dup (p.Ile242fs) duplication Fabry disease [RCV001192397] ChrX:101398862..101398863 [GRCh38]
ChrX:100653850..100653851 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.167G>A (p.Cys56Tyr) single nucleotide variant Fabry disease [RCV000207542] ChrX:101407737 [GRCh38]
ChrX:100662725 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.515G>A (p.Cys172Tyr) single nucleotide variant Fabry disease [RCV000207543] ChrX:101401664 [GRCh38]
ChrX:100656652 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.639+1G>A single nucleotide variant Fabry disease [RCV000207544] ChrX:101400665 [GRCh38]
ChrX:100655653 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.277G>A (p.Asp93Asn) single nucleotide variant Fabry disease [RCV001220686] ChrX:101403903 [GRCh38]
ChrX:100658891 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.793C>T (p.Pro265Ser) single nucleotide variant Fabry disease [RCV000207549] ChrX:101398793 [GRCh38]
ChrX:100653781 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.370-62C>T single nucleotide variant Fabry disease [RCV000207550] ChrX:101401871 [GRCh38]
ChrX:100656859 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.170A>G (p.Gln57Arg) single nucleotide variant Fabry disease [RCV000207552] ChrX:101407734 [GRCh38]
ChrX:100662722 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.44C>A (p.Ala15Glu) single nucleotide variant Fabry disease [RCV000207555] ChrX:101407860 [GRCh38]
ChrX:100662848 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1031T>C (p.Leu344Pro) single nucleotide variant Fabry disease [RCV000207556] ChrX:101398068 [GRCh38]
ChrX:100653056 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.994delA (p.Arg332Aspfs) deletion Fabry disease [RCV000207557] ChrX:101398375 [GRCh38]
ChrX:100653363 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.72G>A (p.Trp24Ter) single nucleotide variant Fabry disease [RCV000207559] ChrX:101407832 [GRCh38]
ChrX:100662820 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.548-290_548-279del deletion Fabry disease [RCV000207560] ChrX:101401036..101401047 [GRCh38]
ChrX:100656024..100656035 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.648T>A (p.Tyr216Ter) single nucleotide variant Fabry disease [RCV000207565] ChrX:101398938 [GRCh38]
ChrX:100653926 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.801+64A>G single nucleotide variant Fabry disease [RCV000207566] ChrX:101398721 [GRCh38]
ChrX:100653709 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1163_1165delTCC (p.Leu388del) deletion Fabry disease [RCV000207569] ChrX:101397934..101397936 [GRCh38]
ChrX:100652922..100652924 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.4C>T (p.Gln2Ter) single nucleotide variant Fabry disease [RCV001293580] ChrX:101407900 [GRCh38]
ChrX:100662888 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.659G>A (p.Arg220Gln) single nucleotide variant Fabry disease [RCV001187255] ChrX:101398927 [GRCh38]
ChrX:100653915 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.999+68C>G single nucleotide variant Fabry disease [RCV000207574] ChrX:101398302 [GRCh38]
ChrX:100653290 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.824T>A (p.Leu275His) single nucleotide variant Fabry disease [RCV000207576] ChrX:101398545 [GRCh38]
ChrX:100653533 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.337T>C (p.Phe113Leu) single nucleotide variant Fabry disease [RCV000991314] ChrX:101403843 [GRCh38]
ChrX:100658831 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.640-57T>C single nucleotide variant Fabry disease [RCV000207579] ChrX:101399003 [GRCh38]
ChrX:100653991 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.785G>A (p.Trp262Ter) single nucleotide variant not provided [RCV000597147] ChrX:101398801 [GRCh38]
ChrX:100653789 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1191T>A (p.Tyr397Ter) single nucleotide variant Fabry disease [RCV000207581] ChrX:101397908 [GRCh38]
ChrX:100652896 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.947dupT (p.Ile317Asnfs) duplication Fabry disease [RCV000207582] ChrX:101398422 [GRCh38]
ChrX:100653410 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801+74C>A single nucleotide variant Fabry disease [RCV000207584] ChrX:101398711 [GRCh38]
ChrX:100653699 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.92C>T (p.Ala31Val) single nucleotide variant Fabry disease [RCV001293631] ChrX:101407812 [GRCh38]
ChrX:100662800 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) single nucleotide variant Fabry disease [RCV001237227]|not provided [RCV000443793] ChrX:101400698 [GRCh38]
ChrX:100655686 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.2(GLA):c.370-87_370-83del deletion Fabry disease [RCV000207589] ChrX:101401892..101401896 [GRCh38]
ChrX:100656880..100656884 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1000-54_1000-51del deletion Fabry disease [RCV000207590] ChrX:101398150..101398153 [GRCh38]
ChrX:100653138..100653141 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.667T>G (p.Cys223Gly) single nucleotide variant Fabry disease [RCV000207592] ChrX:101398919 [GRCh38]
ChrX:100653907 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.675_694del20 (p.Trp226Terfs) deletion Fabry disease [RCV000207593] ChrX:101398892..101398911 [GRCh38]
ChrX:100653880..100653899 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1065C>G (p.Asn355Lys) single nucleotide variant Fabry disease [RCV000207594] ChrX:101398034 [GRCh38]
ChrX:100653022 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.548-331T>A single nucleotide variant Fabry disease [RCV000207595] ChrX:101401088 [GRCh38]
ChrX:100656076 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.862G>C (p.Ala288Pro) single nucleotide variant Fabry disease [RCV000207596] ChrX:101398507 [GRCh38]
ChrX:100653495 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.548-72_548-68del deletion Fabry disease [RCV000207601] ChrX:101400825..101400829 [GRCh38]
ChrX:100655813..100655817 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1000-96dupC duplication Fabry disease [RCV000207603] ChrX:101398195 [GRCh38]
ChrX:100653183 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.802-30_802-29del deletion Fabry disease [RCV000207604] ChrX:101398596..101398597 [GRCh38]
ChrX:100653584..100653585 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.369+69G>A single nucleotide variant Fabry disease [RCV000207606] ChrX:101403742 [GRCh38]
ChrX:100658730 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.547+1_547+6del deletion Fabry disease [RCV000207608] ChrX:101401626..101401631 [GRCh38]
ChrX:100656614..100656619 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1016T>C (p.Val339Ala) single nucleotide variant Fabry disease [RCV001056472] ChrX:101398083 [GRCh38]
ChrX:100653071 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.282T>C (p.Cys94=) single nucleotide variant Fabry disease [RCV000207612] ChrX:101403898 [GRCh38]
ChrX:100658886 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.640-811_640-798del deletion Fabry disease [RCV000207613] ChrX:101399744..101399757 [GRCh38]
ChrX:100654732..100654745 [GRCh37]
ChrX:Xq22.1
benign
NM_001199973.2(RPL36A-HNRNPH2):c.300+2431_300+2433del microsatellite Fabry disease [RCV000011504] ChrX:101397885..101397887 [GRCh38]
ChrX:100652873..100652875 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.800T>C (p.Met267Thr) single nucleotide variant Fabry disease [RCV000207615] ChrX:101398786 [GRCh38]
ChrX:100653774 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370-111T>C single nucleotide variant Fabry disease [RCV000207616] ChrX:101401920 [GRCh38]
ChrX:100656908 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.548-95_548-91del deletion Fabry disease [RCV000207618] ChrX:101400848..101400852 [GRCh38]
ChrX:100655836..100655840 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) single nucleotide variant Fabry disease [RCV001193638]|not provided [RCV000236260] ChrX:101397981 [GRCh38]
ChrX:100652969 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.744_745delTA (p.Phe248Leufs) deletion Fabry disease [RCV000207625] ChrX:101398841..101398842 [GRCh38]
ChrX:100653829..100653830 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.311G>A (p.Gly104Asp) single nucleotide variant Fabry disease [RCV000207626] ChrX:101403869 [GRCh38]
ChrX:100658857 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.547G>A (p.Gly183Ser) single nucleotide variant Fabry disease [RCV001260334]|not provided [RCV000596939] ChrX:101401632 [GRCh38]
ChrX:100656620 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1223delA (p.Asn408Ilefs) deletion Fabry disease [RCV000207629] ChrX:101397876 [GRCh38]
ChrX:100652864 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1046G>C (p.Trp349Ser) single nucleotide variant Fabry disease [RCV001234657]|not provided [RCV000354248] ChrX:101398053 [GRCh38]
ChrX:100653041 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.2(GLA):c.914delC (p.Pro305Leufs) deletion Fabry disease [RCV000207632] ChrX:101398455 [GRCh38]
ChrX:100653443 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1124_1129delGAGTGG (p.Gly375_Val376del) deletion Fabry disease [RCV000207637] ChrX:101397970..101397975 [GRCh38]
ChrX:100652958..100652963 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.370-81_370-71del deletion Fabry disease [RCV000207638] ChrX:101401880..101401890 [GRCh38]
ChrX:100656868..100656878 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.523_524insT (p.Asp175Valfs) insertion Fabry disease [RCV000207639] ChrX:101401655..101401656 [GRCh38]
ChrX:100656643..100656644 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.836A>G (p.Gln279Arg) single nucleotide variant Fabry disease [RCV000207640] ChrX:101398533 [GRCh38]
ChrX:100653521 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.*12T>A single nucleotide variant Fabry disease [RCV000207641] ChrX:101397797 [GRCh38]
ChrX:100652785 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1277_1278del (p.Lys426fs) deletion Fabry disease [RCV000011519] ChrX:101397821..101397822 [GRCh38]
ChrX:100652809..100652810 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.2(GLA):c.1051_1052delGT (p.Val351Serfs) deletion Fabry disease [RCV000207645] ChrX:101398047..101398048 [GRCh38]
ChrX:100653035..100653036 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1141G>C (p.Ala381Pro) single nucleotide variant Fabry disease [RCV000207646] ChrX:101397958 [GRCh38]
ChrX:100652946 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.999+39C>G single nucleotide variant Fabry disease [RCV000207647] ChrX:101398331 [GRCh38]
ChrX:100653319 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.-71delG deletion Fabry disease [RCV000207648] ChrX:101407974 [GRCh38]
ChrX:100662962 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.639+764G>A single nucleotide variant Fabry disease [RCV000207650] ChrX:101399902 [GRCh38]
ChrX:100654890 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.805G>C (p.Val269Leu) single nucleotide variant Fabry disease [RCV000207651] ChrX:101398564 [GRCh38]
ChrX:100653552 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.*37A>C single nucleotide variant Fabry disease [RCV000207653] ChrX:101397772 [GRCh38]
ChrX:100652760 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.548-160G>A single nucleotide variant Fabry disease [RCV000207654] ChrX:101400917 [GRCh38]
ChrX:100655905 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.801+4A>G single nucleotide variant Fabry disease [RCV000207655] ChrX:101398781 [GRCh38]
ChrX:100653769 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.364A>G (p.Asn122Asp) single nucleotide variant Fabry disease [RCV000207656] ChrX:101403816 [GRCh38]
ChrX:100658804 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.1156C>T (p.Gln386Ter) single nucleotide variant Fabry disease [RCV000207658] ChrX:101397943 [GRCh38]
ChrX:100652931 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.646_648delTAT (p.Tyr216del) deletion Fabry disease [RCV000207659] ChrX:101398938..101398940 [GRCh38]
ChrX:100653926..100653928 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.46C>G (p.Leu16Val) single nucleotide variant Fabry disease [RCV000207660] ChrX:101407858 [GRCh38]
ChrX:100662846 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) single nucleotide variant Fabry disease [RCV000593162]|not provided [RCV000726800] ChrX:101398810 [GRCh38]
ChrX:100653798 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1A>G (p.Met1Val) single nucleotide variant Fabry disease [RCV000207662] ChrX:101407903 [GRCh38]
ChrX:100662891 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.548-16T>C single nucleotide variant Fabry disease [RCV000207665] ChrX:101400773 [GRCh38]
ChrX:100655761 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.-100G>A single nucleotide variant Fabry disease [RCV000207666] ChrX:101408003 [GRCh38]
ChrX:100662991 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.639+840A>T single nucleotide variant Fabry disease [RCV000207667] ChrX:101399826 [GRCh38]
ChrX:100654814 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.801+72T>G single nucleotide variant Fabry disease [RCV000207670] ChrX:101398713 [GRCh38]
ChrX:100653701 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.225C>T (p.Leu75=) single nucleotide variant Fabry disease [RCV000207672] ChrX:101403955 [GRCh38]
ChrX:100658943 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.618_627delTTATATGTGGinsA (p.Tyr207_Trp209del) indel Fabry disease [RCV000207673] ChrX:101400678..101400687 [GRCh38]
ChrX:100655666..100655675 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.871G>A (p.Ala291Thr) single nucleotide variant Fabry disease [RCV000207678] ChrX:101398498 [GRCh38]
ChrX:100653486 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.782G>T (p.Gly261Val) single nucleotide variant Fabry disease [RCV000780301] ChrX:101398804 [GRCh38]
ChrX:100653792 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.785G>T (p.Trp262Leu) single nucleotide variant Fabry disease [RCV000207684] ChrX:101398801 [GRCh38]
ChrX:100653789 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.399T>G (p.Ile133Met) single nucleotide variant Fabry disease [RCV000207688] ChrX:101401780 [GRCh38]
ChrX:100656768 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.155G>C (p.Cys52Ser) single nucleotide variant Fabry disease [RCV000207691] ChrX:101407749 [GRCh38]
ChrX:100662737 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.-58G>A single nucleotide variant Fabry disease [RCV000207693] ChrX:101407961 [GRCh38]
ChrX:100662949 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001199973.2(RPL36A-HNRNPH2):c.300+3411_300+3412del deletion Fabry disease [RCV000780298]|not provided [RCV000627420] ChrX:101398867..101398868 [GRCh38]
ChrX:100653855..100653856 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.640-855G>C single nucleotide variant Fabry disease [RCV000207696] ChrX:101399801 [GRCh38]
ChrX:100654789 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.370-1G>A single nucleotide variant Fabry disease [RCV000207697] ChrX:101401810 [GRCh38]
ChrX:100656798 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.878C>G (p.Pro293Arg) single nucleotide variant Fabry disease [RCV000207698] ChrX:101398491 [GRCh38]
ChrX:100653479 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.3(GLA):c.194+14G>C single nucleotide variant not specified [RCV000217811] ChrX:101407696 [GRCh38]
ChrX:100662684 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.560T>C (p.Met187Thr) single nucleotide variant not provided [RCV001090390] ChrX:101400745 [GRCh38]
ChrX:100655733 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.640C>T (p.Pro214Ser) single nucleotide variant Fabry disease [RCV000207701] ChrX:101398946 [GRCh38]
ChrX:100653934 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.805G>A (p.Val269Met) single nucleotide variant Fabry disease [RCV000589129] ChrX:101398564 [GRCh38]
ChrX:100653552 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.325G>C (p.Asp109His) single nucleotide variant Fabry disease [RCV000207703] ChrX:101403855 [GRCh38]
ChrX:100658843 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.434T>C (p.Phe145Ser) single nucleotide variant Fabry disease [RCV000207704] ChrX:101401745 [GRCh38]
ChrX:100656733 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.639+40T>C single nucleotide variant Fabry disease [RCV000207705] ChrX:101400626 [GRCh38]
ChrX:100655614 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.109G>A (p.Ala37Thr) single nucleotide variant Fabry disease [RCV000207708] ChrX:101407795 [GRCh38]
ChrX:100662783 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.639+58A>C single nucleotide variant Fabry disease [RCV000207709] ChrX:101400608 [GRCh38]
ChrX:100655596 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.796G>A (p.Asp266Asn) single nucleotide variant Fabry disease [RCV000207710] ChrX:101398790 [GRCh38]
ChrX:100653778 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370-67T>C single nucleotide variant Fabry disease [RCV000207711] ChrX:101401876 [GRCh38]
ChrX:100656864 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.567G>C (p.Leu189Phe) single nucleotide variant Fabry disease [RCV000207712] ChrX:101400738 [GRCh38]
ChrX:100655726 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-4203del deletion Fabry disease [RCV001174582] ChrX:101407732 [GRCh38]
ChrX:100662720 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.812G>C (p.Gly271Ala) single nucleotide variant Fabry disease [RCV000207716] ChrX:101398557 [GRCh38]
ChrX:100653545 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.739T>C (p.Ser247Pro) single nucleotide variant Fabry disease [RCV000207717] ChrX:101398847 [GRCh38]
ChrX:100653835 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1246C>T (p.Gln416Ter) single nucleotide variant not provided [RCV000730154] ChrX:101397853 [GRCh38]
ChrX:100652841 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.453C>A (p.Tyr151Ter) single nucleotide variant Fabry disease [RCV000207719] ChrX:101401726 [GRCh38]
ChrX:100656714 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1000-1G>A single nucleotide variant Fabry disease [RCV000207720] ChrX:101398100 [GRCh38]
ChrX:100653088 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.826A>G (p.Ser276Gly) single nucleotide variant Fabry disease [RCV000703679]|not provided [RCV000729606] ChrX:101398543 [GRCh38]
ChrX:100653531 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.548-296G>A single nucleotide variant Fabry disease [RCV000207724] ChrX:101401053 [GRCh38]
ChrX:100656041 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1047G>A (p.Trp349Ter) single nucleotide variant Fabry disease [RCV000207726] ChrX:101398052 [GRCh38]
ChrX:100653040 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.65T>G (p.Val22Gly) single nucleotide variant Fabry disease [RCV000207728] ChrX:101407839 [GRCh38]
ChrX:100662827 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.801+75A>G single nucleotide variant Fabry disease [RCV000207729] ChrX:101398710 [GRCh38]
ChrX:100653698 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1250T>C (p.Leu417Pro) single nucleotide variant Fabry disease [RCV000207730] ChrX:101397849 [GRCh38]
ChrX:100652837 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) single nucleotide variant Fabry disease [RCV000359005]|not provided [RCV000726225] ChrX:101400700 [GRCh38]
ChrX:100655688 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.1000-6T>C single nucleotide variant Fabry disease [RCV000207732] ChrX:101398105 [GRCh38]
ChrX:100653093 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.999+84C>A single nucleotide variant Fabry disease [RCV000207733] ChrX:101398286 [GRCh38]
ChrX:100653274 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.640-61_640-60del deletion Fabry disease [RCV000207734] ChrX:101399006..101399007 [GRCh38]
ChrX:100653994..100653995 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.838C>T (p.Gln280Ter) single nucleotide variant Fabry disease [RCV000207735] ChrX:101398531 [GRCh38]
ChrX:100653519 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1191T>C (p.Tyr397=) single nucleotide variant not specified [RCV000433628] ChrX:101397908 [GRCh38]
ChrX:100652896 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_001199973.2(RPL36A-HNRNPH2):c.300+2359_300+2362del microsatellite Fabry disease [RCV000011520] ChrX:101397812..101397815 [GRCh38]
ChrX:100652800..100652803 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.548-298G>A single nucleotide variant Fabry disease [RCV000207739] ChrX:101401055 [GRCh38]
ChrX:100656043 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.959A>T (p.Asn320Ile) single nucleotide variant Fabry disease [RCV000207741] ChrX:101398410 [GRCh38]
ChrX:100653398 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.802-101A>G single nucleotide variant Fabry disease [RCV000207743] ChrX:101398668 [GRCh38]
ChrX:100653656 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.668G>A (p.Cys223Tyr) single nucleotide variant Fabry disease [RCV001194309] ChrX:101398918 [GRCh38]
ChrX:100653906 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4080_301-4076del microsatellite Fabry disease [RCV000530926] ChrX:101407850..101407854 [GRCh38]
ChrX:100662838..100662842 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.1195_1196delTG (p.Trp399Aspfs) deletion Fabry disease [RCV000207750] ChrX:101397903..101397904 [GRCh38]
ChrX:100652891..100652892 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.-33C>T single nucleotide variant Fabry disease [RCV000207752] ChrX:101407936 [GRCh38]
ChrX:100662924 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.519C>G (p.Tyr173Ter) single nucleotide variant Fabry disease [RCV000207753] ChrX:101401660 [GRCh38]
ChrX:100656648 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.891dupT (p.Asn298Terfs) duplication Fabry disease [RCV000207755] ChrX:101398478 [GRCh38]
ChrX:100653466 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.640-67T>A single nucleotide variant Fabry disease [RCV000207756] ChrX:101399013 [GRCh38]
ChrX:100654001 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.167G>T (p.Cys56Phe) single nucleotide variant not specified [RCV001193044] ChrX:101407737 [GRCh38]
ChrX:100662725 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.2(GLA):c.78C>T (p.Ile26=) single nucleotide variant Fabry disease [RCV000207758] ChrX:101407826 [GRCh38]
ChrX:100662814 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.870G>A (p.Met290Ile) single nucleotide variant Fabry disease [RCV001205029] ChrX:101398499 [GRCh38]
ChrX:100653487 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.548-77_548-68del deletion Fabry disease [RCV000207764] ChrX:101400825..101400834 [GRCh38]
ChrX:100655813..100655822 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.776C>T (p.Pro259Leu) single nucleotide variant Fabry disease [RCV000207766] ChrX:101398810 [GRCh38]
ChrX:100653798 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1050T>G (p.Ala350=) single nucleotide variant Fabry disease [RCV000207767] ChrX:101398049 [GRCh38]
ChrX:100653037 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.640-69T>C single nucleotide variant Fabry disease [RCV000207769] ChrX:101399015 [GRCh38]
ChrX:100654003 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.802-84A>G single nucleotide variant Fabry disease [RCV000207770] ChrX:101398651 [GRCh38]
ChrX:100653639 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1069C>T (p.Gln357Ter) single nucleotide variant not provided [RCV000732876] ChrX:101398030 [GRCh38]
ChrX:100653018 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.547+38G>A single nucleotide variant Fabry disease [RCV000207772] ChrX:101401594 [GRCh38]
ChrX:100656582 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.369T>C (p.Tyr123=) single nucleotide variant Fabry disease [RCV000230008] ChrX:101403811 [GRCh38]
ChrX:100658799 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.2(GLA):c.1215_1216delTC (p.Ser405Argfs) deletion Fabry disease [RCV000207776] ChrX:101397883..101397884 [GRCh38]
ChrX:100652871..100652872 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.690T>C (p.Ala230=) single nucleotide variant Fabry disease [RCV000207777] ChrX:101398896 [GRCh38]
ChrX:100653884 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1017G>A (p.Val339=) single nucleotide variant Fabry disease [RCV000207778] ChrX:101398082 [GRCh38]
ChrX:100653070 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.801+102T>C single nucleotide variant Fabry disease [RCV000207779] ChrX:101398683 [GRCh38]
ChrX:100653671 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.298A>T (p.Arg100Ter) single nucleotide variant Fabry disease [RCV001224303] ChrX:101403882 [GRCh38]
ChrX:100658870 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.-55A>C single nucleotide variant Fabry disease [RCV000207781] ChrX:101407958 [GRCh38]
ChrX:100662946 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1121A>C (p.Lys374Thr) single nucleotide variant Fabry disease [RCV000207782] ChrX:101397978 [GRCh38]
ChrX:100652966 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.370-14C>T single nucleotide variant Fabry disease [RCV000207783] ChrX:101401823 [GRCh38]
ChrX:100656811 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.548-9C>T single nucleotide variant Fabry disease [RCV000207784] ChrX:101400766 [GRCh38]
ChrX:100655754 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.640-838G>T single nucleotide variant Fabry disease [RCV000207785] ChrX:101399784 [GRCh38]
ChrX:100654772 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.971T>A (p.Leu324Ter) single nucleotide variant Fabry disease [RCV000207786] ChrX:101398398 [GRCh38]
ChrX:100653386 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.802-96G>A single nucleotide variant Fabry disease [RCV000207788] ChrX:101398663 [GRCh38]
ChrX:100653651 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.312C>A (p.Gly104=) single nucleotide variant Fabry disease [RCV000207790] ChrX:101403868 [GRCh38]
ChrX:100658856 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1226C>A (p.Pro409His) single nucleotide variant Fabry disease [RCV000207791] ChrX:101397873 [GRCh38]
ChrX:100652861 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.639+69del deletion Fabry disease [RCV000207792] ChrX:101400597 [GRCh38]
ChrX:100655585 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.920C>T (p.Ala307Val) single nucleotide variant Fabry disease [RCV000207795] ChrX:101398449 [GRCh38]
ChrX:100653437 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.-61G>T single nucleotide variant Fabry disease [RCV000207796] ChrX:101407964 [GRCh38]
ChrX:100662952 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.640-858_640-857del deletion Fabry disease [RCV000207798] ChrX:101399803..101399804 [GRCh38]
ChrX:100654791..100654792 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1132T>C (p.Cys378Arg) single nucleotide variant Fabry disease [RCV000207800] ChrX:101397967 [GRCh38]
ChrX:100652955 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801+1G>A single nucleotide variant Fabry disease [RCV000207801] ChrX:101398784 [GRCh38]
ChrX:100653772 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.*13_*14delAT deletion Fabry disease [RCV000207802] ChrX:101397795..101397796 [GRCh38]
ChrX:100652783..100652784 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.32delG (p.Gly11Alafs) deletion Fabry disease [RCV000207803] ChrX:101407872 [GRCh38]
ChrX:100662860 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.76A>T (p.Ile26Phe) single nucleotide variant Fabry disease [RCV000207813] ChrX:101407828 [GRCh38]
ChrX:100662816 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.370-89T>C single nucleotide variant Fabry disease [RCV000207815] ChrX:101401898 [GRCh38]
ChrX:100656886 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.931C>T (p.Leu311Phe) single nucleotide variant Fabry disease [RCV000207816] ChrX:101398438 [GRCh38]
ChrX:100653426 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.*4G>T single nucleotide variant Fabry disease [RCV000207817] ChrX:101397805 [GRCh38]
ChrX:100652793 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.614delC (p.Pro205Leufs) deletion Fabry disease [RCV000207818] ChrX:101400691 [GRCh38]
ChrX:100655679 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.319C>T (p.Gln107Ter) single nucleotide variant Fabry disease [RCV000207820] ChrX:101403861 [GRCh38]
ChrX:100658849 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.47T>G (p.Leu16Arg) single nucleotide variant Fabry disease [RCV000207821] ChrX:101407857 [GRCh38]
ChrX:100662845 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.863C>A (p.Ala288Asp) single nucleotide variant Fabry disease [RCV000207822] ChrX:101398506 [GRCh38]
ChrX:100653494 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.493G>C (p.Asp165His) single nucleotide variant Fabry disease [RCV000207825] ChrX:101401686 [GRCh38]
ChrX:100656674 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.63C>G (p.Leu21=) single nucleotide variant Fabry disease [RCV000207826] ChrX:101407841 [GRCh38]
ChrX:100662829 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.999+40C>G single nucleotide variant Fabry disease [RCV000207827] ChrX:101398330 [GRCh38]
ChrX:100653318 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.818T>C (p.Phe273Ser) single nucleotide variant Fabry disease [RCV001226443] ChrX:101398551 [GRCh38]
ChrX:100653539 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.548-321G>A single nucleotide variant Fabry disease [RCV000207831] ChrX:101401078 [GRCh38]
ChrX:100656066 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.640-640C>T single nucleotide variant Fabry disease [RCV000207833] ChrX:101399586 [GRCh38]
ChrX:100654574 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.38C>T (p.Ala13Val) single nucleotide variant Fabry disease [RCV000207834] ChrX:101407866 [GRCh38]
ChrX:100662854 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.627G>A (p.Trp209Ter) single nucleotide variant Fabry disease [RCV000207835] ChrX:101400678 [GRCh38]
ChrX:100655666 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.946_966del21 (p.Val316_Asp322del) deletion Fabry disease [RCV000207836] ChrX:101398403..101398423 [GRCh38]
ChrX:100653391..100653411 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.233C>G (p.Ser78Ter) single nucleotide variant Fabry disease [RCV000207837] ChrX:101403947 [GRCh38]
ChrX:100658935 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801+66G>A single nucleotide variant Fabry disease [RCV000207838] ChrX:101398719 [GRCh38]
ChrX:100653707 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.504delA (p.Lys168Asnfs) deletion Fabry disease [RCV000207839] ChrX:101401675 [GRCh38]
ChrX:100656663 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1073A>G (p.Glu358Gly) single nucleotide variant Fabry disease [RCV000207841] ChrX:101398026 [GRCh38]
ChrX:100653014 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.638A>T (p.Lys213Met) single nucleotide variant Fabry disease [RCV000207843] ChrX:101400667 [GRCh38]
ChrX:100655655 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.144G>C (p.Glu48Asp) single nucleotide variant Fabry disease [RCV000207847] ChrX:101407760 [GRCh38]
ChrX:100662748 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.786G>C (p.Trp262Cys) single nucleotide variant Fabry disease [RCV000207848] ChrX:101398800 [GRCh38]
ChrX:100653788 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1021dupG (p.Glu341Glyfs) duplication Fabry disease [RCV000207849] ChrX:101398078 [GRCh38]
ChrX:100653066 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.887T>C (p.Met296Thr) single nucleotide variant not provided [RCV000734829] ChrX:101398482 [GRCh38]
ChrX:100653470 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.559A>G (p.Met187Val) single nucleotide variant Fabry disease [RCV000207852] ChrX:101400746 [GRCh38]
ChrX:100655734 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.714_715insCCAAGAT (p.Ile239Profs) insertion Fabry disease [RCV000207853] ChrX:101398871..101398872 [GRCh38]
ChrX:100653859..100653860 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.948_949insT (p.Ile317Tyrfs) insertion Fabry disease [RCV000207856] ChrX:101398420..101398421 [GRCh38]
ChrX:100653408..100653409 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.402delT (p.Tyr134Terfs) deletion Fabry disease [RCV000207857] ChrX:101401777 [GRCh38]
ChrX:100656765 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.71G>A (p.Trp24Ter) single nucleotide variant Fabry disease [RCV000207858] ChrX:101407833 [GRCh38]
ChrX:100662821 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370-1G>T single nucleotide variant Fabry disease [RCV000207859] ChrX:101401810 [GRCh38]
ChrX:100656798 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.858C>T (p.Leu286=) single nucleotide variant Fabry disease [RCV000773679] ChrX:101398511 [GRCh38]
ChrX:100653499 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.159C>A (p.Asn53Lys) single nucleotide variant Fabry disease [RCV000207861] ChrX:101407745 [GRCh38]
ChrX:100662733 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.639+36C>T single nucleotide variant Fabry disease [RCV000207862] ChrX:101400630 [GRCh38]
ChrX:100655618 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.894T>C (p.Asn298=) single nucleotide variant Fabry disease [RCV000207865] ChrX:101398475 [GRCh38]
ChrX:100653463 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.169C>T (p.Gln57Ter) single nucleotide variant Fabry disease [RCV001194305] ChrX:101407735 [GRCh38]
ChrX:100662723 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.560T>G (p.Met187Arg) single nucleotide variant Fabry disease [RCV000207869] ChrX:101400745 [GRCh38]
ChrX:100655733 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1241T>A (p.Leu414Ter) single nucleotide variant Fabry disease [RCV000207872] ChrX:101397858 [GRCh38]
ChrX:100652846 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1028delC (p.Pro343Leufs) deletion Fabry disease [RCV000207873] ChrX:101398071 [GRCh38]
ChrX:100653059 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.801+60A>G single nucleotide variant Fabry disease [RCV000207876] ChrX:101398725 [GRCh38]
ChrX:100653713 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1000-10G>A single nucleotide variant Fabry disease [RCV000780297] ChrX:101398109 [GRCh38]
ChrX:100653097 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.2(GLA):c.548-188A>G single nucleotide variant Fabry disease [RCV000207879] ChrX:101400945 [GRCh38]
ChrX:100655933 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1160T>C (p.Leu387Pro) single nucleotide variant Fabry disease [RCV000207880] ChrX:101397939 [GRCh38]
ChrX:100652927 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.370-70G>C single nucleotide variant Fabry disease [RCV000207882] ChrX:101401879 [GRCh38]
ChrX:100656867 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.907A>T (p.Ile303Phe) single nucleotide variant Fabry disease [RCV000207883] ChrX:101398462 [GRCh38]
ChrX:100653450 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1045dupT (p.Trp349Leufs) duplication Fabry disease [RCV000207885] ChrX:101398054 [GRCh38]
ChrX:100653042 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.299G>A (p.Arg100Lys) single nucleotide variant Fabry disease [RCV000207886] ChrX:101403881 [GRCh38]
ChrX:100658869 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.457_459delGAC (p.Asp153del) deletion Fabry disease [RCV000207889] ChrX:101401720..101401722 [GRCh38]
ChrX:100656708..100656710 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370-80_370-76del deletion Fabry disease [RCV000207891] ChrX:101401885..101401889 [GRCh38]
ChrX:100656873..100656877 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) single nucleotide variant Fabry disease [RCV000556577] ChrX:101398837 [GRCh38]
ChrX:100653825 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.194+1G>A single nucleotide variant Fabry disease [RCV000207893] ChrX:101407709 [GRCh38]
ChrX:100662697 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.467C>A (p.Ala156Asp) single nucleotide variant Fabry disease [RCV000207894] ChrX:101401712 [GRCh38]
ChrX:100656700 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801+84T>G single nucleotide variant Fabry disease [RCV000207897] ChrX:101398701 [GRCh38]
ChrX:100653689 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.664T>G (p.Tyr222Asp) single nucleotide variant Fabry disease [RCV000207898] ChrX:101398922 [GRCh38]
ChrX:100653910 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.1000-51_1000-50del deletion Fabry disease [RCV000207900] ChrX:101398149..101398150 [GRCh38]
ChrX:100653137..100653138 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.370-84_370-80del deletion Fabry disease [RCV000207901] ChrX:101401889..101401893 [GRCh38]
ChrX:100656877..100656881 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1191T>G (p.Tyr397Ter) single nucleotide variant Fabry disease [RCV000207903] ChrX:101397908 [GRCh38]
ChrX:100652896 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.838_849delCAAGTAACTCAG (p.Gln280_Gln283del) deletion Fabry disease [RCV000207907] ChrX:101398520..101398531 [GRCh38]
ChrX:100653508..100653519 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.548-299C>T single nucleotide variant Fabry disease [RCV000207908] ChrX:101401056 [GRCh38]
ChrX:100656044 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.640-64del deletion Fabry disease [RCV000207909] ChrX:101399010 [GRCh38]
ChrX:100653998 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1286T>C (p.Leu429Pro) single nucleotide variant Fabry disease [RCV000207910] ChrX:101397813 [GRCh38]
ChrX:100652801 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1000-59A>C single nucleotide variant Fabry disease [RCV000207912] ChrX:101398158 [GRCh38]
ChrX:100653146 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.548-67_548-66dupCT duplication Fabry disease [RCV000207913] ChrX:101400823..101400824 [GRCh38]
ChrX:100655811..100655812 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.963_964delGGinsCA (p.Gln321_Asp322delinsHisAsn) indel Fabry disease [RCV000207914] ChrX:101398405..101398406 [GRCh38]
ChrX:100653393..100653394 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.802-24G>A single nucleotide variant Fabry disease [RCV000207915] ChrX:101398591 [GRCh38]
ChrX:100653579 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.511G>A (p.Gly171Ser) single nucleotide variant Fabry disease [RCV000207916] ChrX:101401668 [GRCh38]
ChrX:100656656 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.671A>G (p.Asn224Ser) single nucleotide variant Fabry disease [RCV001293630] ChrX:101398915 [GRCh38]
ChrX:100653903 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.272T>C (p.Ile91Thr) single nucleotide variant not provided [RCV000732724] ChrX:101403908 [GRCh38]
ChrX:100658896 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1207T>C (p.Leu403=) single nucleotide variant Fabry disease [RCV000941224] ChrX:101397892 [GRCh38]
ChrX:100652880 [GRCh37]
ChrX:Xq22.1
benign|likely benign
NM_000169.2(GLA):c.547+1G>A single nucleotide variant Fabry disease [RCV000207920] ChrX:101401631 [GRCh38]
ChrX:100656619 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.-39G>A single nucleotide variant Fabry disease [RCV000207921] ChrX:101407942 [GRCh38]
ChrX:100662930 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.640-691del deletion Fabry disease [RCV000207922] ChrX:101399637 [GRCh38]
ChrX:100654625 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1090_1103delTCTTATACCATCGC (p.Tyr365Cysfs) deletion Fabry disease [RCV000207923] ChrX:101397996..101398009 [GRCh38]
ChrX:100652984..100652997 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.43G>C (p.Ala15Pro) single nucleotide variant Fabry disease [RCV000207927] ChrX:101407861 [GRCh38]
ChrX:100662849 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1208delT (p.Leu403Terfs) deletion Fabry disease [RCV000207929] ChrX:101397891 [GRCh38]
ChrX:100652879 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.639+42G>A single nucleotide variant Fabry disease [RCV000207930] ChrX:101400624 [GRCh38]
ChrX:100655612 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.179C>T (p.Pro60Leu) single nucleotide variant not provided [RCV000731360] ChrX:101407725 [GRCh38]
ChrX:100662713 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.2(GLA):c.639+59A>T single nucleotide variant Fabry disease [RCV000207935] ChrX:101400607 [GRCh38]
ChrX:100655595 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.744T>G (p.Phe248Leu) single nucleotide variant Fabry disease [RCV000207936] ChrX:101398842 [GRCh38]
ChrX:100653830 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.547+9T>A single nucleotide variant Fabry disease [RCV000207938] ChrX:101401623 [GRCh38]
ChrX:100656611 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.153G>T (p.Met51Ile) single nucleotide variant Fabry disease [RCV001193644] ChrX:101407751 [GRCh38]
ChrX:100662739 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.716T>C (p.Ile239Thr) single nucleotide variant Fabry disease [RCV000207940] ChrX:101398870 [GRCh38]
ChrX:100653858 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.877C>T (p.Pro293Ser) single nucleotide variant Fabry disease [RCV000207941] ChrX:101398492 [GRCh38]
ChrX:100653480 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.370-19_370-18del deletion Fabry disease [RCV000207944] ChrX:101401827..101401828 [GRCh38]
ChrX:100656815..100656816 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.560delT (p.Met187Serfs) deletion Fabry disease [RCV000207946] ChrX:101400745 [GRCh38]
ChrX:100655733 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.640-859C>T single nucleotide variant Fabry disease [RCV000207947] ChrX:101399805 [GRCh38]
ChrX:100654793 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1021G>A (p.Glu341Lys) single nucleotide variant Fabry disease [RCV000781425] ChrX:101398078 [GRCh38]
ChrX:100653066 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.317_327delTTCAGGCAGAC (p.Leu106Profs) deletion Fabry disease [RCV000207950] ChrX:101403853..101403863 [GRCh38]
ChrX:100658841..100658851 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del deletion Fabry disease [RCV001192398] ChrX:101398563..101398566 [GRCh38]
ChrX:100653551..100653554 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.-62T>C single nucleotide variant Fabry disease [RCV000207953] ChrX:101407965 [GRCh38]
ChrX:100662953 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.113G>A (p.Arg38Lys) single nucleotide variant Fabry disease [RCV000207955] ChrX:101407791 [GRCh38]
ChrX:100662779 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.1056_1069delTATGATAAACCGGC (p.Met353Glyfs) deletion Fabry disease [RCV000207958] ChrX:101398030..101398043 [GRCh38]
ChrX:100653018..100653031 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.467C>T (p.Ala156Val) single nucleotide variant Fabry disease [RCV000207959] ChrX:101401712 [GRCh38]
ChrX:100656700 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.611G>A (p.Trp204Ter) single nucleotide variant Fabry disease [RCV000207962] ChrX:101400694 [GRCh38]
ChrX:100655682 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.801+42C>T single nucleotide variant Fabry disease [RCV000207964] ChrX:101398743 [GRCh38]
ChrX:100653731 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.197A>G (p.Glu66Gly) single nucleotide variant Fabry disease [RCV000207967] ChrX:101403983 [GRCh38]
ChrX:100658971 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.3(GLA):c.774_775del (p.Pro259fs) deletion Fabry disease [RCV000011498] ChrX:101398811..101398812 [GRCh38]
ChrX:100653799..100653800 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.*5T>G single nucleotide variant Fabry disease [RCV000207970] ChrX:101397804 [GRCh38]
ChrX:100652792 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) single nucleotide variant Fabry disease [RCV000536023]|not provided [RCV000734623] ChrX:101398032 [GRCh38]
ChrX:100653020 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000169.2(GLA):c.946delG (p.Val316Terfs) deletion Fabry disease [RCV000207976] ChrX:101398423 [GRCh38]
ChrX:100653411 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.222G>C (p.Glu74Asp) single nucleotide variant Fabry disease [RCV000207977] ChrX:101403958 [GRCh38]
ChrX:100658946 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.486G>C (p.Trp162Cys) single nucleotide variant Fabry disease [RCV000207979] ChrX:101401693 [GRCh38]
ChrX:100656681 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.618_626delTTATATGTG (p.Tyr207_Trp209del) deletion Fabry disease [RCV000207981] ChrX:101400679..101400687 [GRCh38]
ChrX:100655667..100655675 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.373C>T (p.His125Tyr) single nucleotide variant Fabry disease [RCV000207982] ChrX:101401806 [GRCh38]
ChrX:100656794 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.870G>C (p.Met290Ile) single nucleotide variant not provided [RCV000733247]|not specified [RCV001280629] ChrX:101398499 [GRCh38]
ChrX:100653487 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|uncertain significance
NM_000169.2(GLA):c.138C>G (p.His46Gln) single nucleotide variant not specified [RCV001193643] ChrX:101407766 [GRCh38]
ChrX:100662754 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_000169.2(GLA):c.782dupG (p.Trp262Leufs) duplication Fabry disease [RCV000207985] ChrX:101398804 [GRCh38]
ChrX:100653792 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.548-82A>T single nucleotide variant Fabry disease [RCV000207986] ChrX:101400839 [GRCh38]
ChrX:100655827 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.36C>A (p.Cys12Ter) single nucleotide variant Fabry disease [RCV000207987] ChrX:101407868 [GRCh38]
ChrX:100662856 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.802-69T>C single nucleotide variant Fabry disease [RCV000207988] ChrX:101398636 [GRCh38]
ChrX:100653624 [GRCh37]
ChrX:Xq22.1
likely benign
NM_000169.2(GLA):c.1222A>T (p.Asn408Tyr) single nucleotide variant not provided [RCV000995990] ChrX:101397877 [GRCh38]
ChrX:100652865 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.392T>C (p.Leu131Pro) single nucleotide variant Fabry disease [RCV000207991] ChrX:101401787 [GRCh38]
ChrX:100656775 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.708G>C (p.Trp236Cys) single nucleotide variant Fabry disease [RCV000207994] ChrX:101398878 [GRCh38]
ChrX:100653866 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1000-33T>C single nucleotide variant Fabry disease [RCV000208502] ChrX:101398132 [GRCh38]
ChrX:100653120 [GRCh37]
ChrX:Xq22.1
benign
NM_000169.2(GLA):c.490G>T (p.Val164Leu) single nucleotide variant Deoxygalactonojirimycin response [RCV000208886]|Fabry disease [RCV000209684] ChrX:101401689 [GRCh38]
ChrX:100656677 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) single nucleotide variant Deoxygalactonojirimycin response [RCV000208891]|Fabry disease [RCV000209573] ChrX:101407845 [GRCh38]
ChrX:100662833 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) single nucleotide variant Deoxygalactonojirimycin response [RCV000209170]|Fabry disease [RCV000208905] ChrX:101397923 [GRCh38]
ChrX:100652911 [GRCh37]
ChrX:Xq22.1
likely pathogenic|drug response
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) single nucleotide variant Deoxygalactonojirimycin response [RCV000209298]|Fabry disease [RCV000208908] ChrX:101401718 [GRCh38]
ChrX:100656706 [GRCh37]
ChrX:Xq22.1
drug response|uncertain significance
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) single nucleotide variant Deoxygalactonojirimycin response [RCV000208923]|Fabry disease [RCV000209486] ChrX:101398903 [GRCh38]
ChrX:100653891 [GRCh37]
ChrX:Xq22.1
drug response|uncertain significance
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) single nucleotide variant Deoxygalactonojirimycin response [RCV000208936]|Fabry disease [RCV000209492] ChrX:101403843 [GRCh38]
ChrX:100658831 [GRCh37]
ChrX:Xq22.1
likely pathogenic|drug response
NM_000169.2(GLA):c.947T>C (p.Val316Ala) single nucleotide variant Deoxygalactonojirimycin response [RCV000208961]|Fabry disease [RCV000209520] ChrX:101398422 [GRCh38]
ChrX:100653410 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) single nucleotide variant Deoxygalactonojirimycin response [RCV000208963]|Fabry disease [RCV000209648] ChrX:101407800 [GRCh38]
ChrX:100662788 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) single nucleotide variant Deoxygalactonojirimycin response [RCV000208972]|Fabry disease [RCV000209531] ChrX:101398945 [GRCh38]
ChrX:100653933 [GRCh37]
ChrX:Xq22.1
likely pathogenic|drug response
NM_000169.2(GLA):c.943G>A (p.Asp315Asn) single nucleotide variant Deoxygalactonojirimycin response [RCV000209253]|Fabry disease [RCV000208984] ChrX:101398426 [GRCh38]
ChrX:100653414 [GRCh37]
ChrX:Xq22.1
drug response|uncertain significance
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) single nucleotide variant Deoxygalactonojirimycin response [RCV000209255]|Fabry disease [RCV000208990] ChrX:101407806 [GRCh38]
ChrX:100662794 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.989A>G (p.Gln330Arg) single nucleotide variant Deoxygalactonojirimycin response [RCV000209395]|Fabry disease [RCV000209009] ChrX:101398380 [GRCh38]
ChrX:100653368 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.980A>G (p.Gln327Arg) single nucleotide variant Deoxygalactonojirimycin response [RCV000209037]|Fabry disease [RCV000209595] ChrX:101398389 [GRCh38]
ChrX:100653377 [GRCh37]
ChrX:Xq22.1
pathogenic|drug response
NM_000169.2(GLA):c.968C>G (p.Pro323Arg) single nucleotide variant Deoxygalactonojirimycin response [RCV000209324]|Fabry disease [RCV000209054] ChrX:101398401 [GRCh38]
ChrX:100653389 [GRCh37]
ChrX:Xq22.1
drug response|uncertain significance
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) single nucleotide variant Deoxygalactonojirimycin response [RCV000209447]|Fabry disease [RCV000209059] ChrX:101407714 [GRCh38]
ChrX:100662702 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) single nucleotide variant Deoxygalactonojirimycin response [RCV000209080]|Fabry disease [RCV000209638] ChrX:101400717 [GRCh38]
ChrX:100655705 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.561G>A (p.Met187Ile) single nucleotide variant Deoxygalactonojirimycin response [RCV000209370]|Fabry disease [RCV000209103] ChrX:101400744 [GRCh38]
ChrX:100655732 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.761T>C (p.Val254Ala) single nucleotide variant Deoxygalactonojirimycin response [RCV000209113]|Fabry disease [RCV000209677] ChrX:101398825 [GRCh38]
ChrX:100653813 [GRCh37]
ChrX:Xq22.1
likely pathogenic|drug response
NM_000169.2(GLA):c.657C>G (p.Ile219Met) single nucleotide variant Deoxygalactonojirimycin response [RCV000209507]|Fabry disease [RCV000209122] ChrX:101398929 [GRCh38]
ChrX:100653917 [GRCh37]
ChrX:Xq22.1
likely pathogenic|drug response
NM_000169.2(GLA):c.256T>C (p.Tyr86His) single nucleotide variant Deoxygalactonojirimycin response [RCV000209399]|Fabry disease [RCV000209126] ChrX:101403924 [GRCh38]
ChrX:100658912 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.638A>G (p.Lys213Arg) single nucleotide variant Deoxygalactonojirimycin response [RCV000209142]|Fabry disease [RCV000209822] ChrX:101400667 [GRCh38]
ChrX:100655655 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) single nucleotide variant Deoxygalactonojirimycin response [RCV000209436]|Fabry disease [RCV000209164]|not provided [RCV000727338] ChrX:101400695 [GRCh38]
ChrX:100655683 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) single nucleotide variant Deoxygalactonojirimycin response [RCV000209582]|Fabry disease [RCV000209196] ChrX:101397975 [GRCh38]
ChrX:100652963 [GRCh37]
ChrX:Xq22.1
likely pathogenic|drug response
NM_000169.2(GLA):c.7C>G (p.Leu3Val) single nucleotide variant Deoxygalactonojirimycin response [RCV000209475]|Fabry disease [RCV000209209] ChrX:101407897 [GRCh38]
ChrX:100662885 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) single nucleotide variant Deoxygalactonojirimycin response [RCV000209219]|Fabry disease [RCV000209785]|not specified [RCV000606004] ChrX:101398044 [GRCh38]
ChrX:100653032 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain significance
NM_000169.2(GLA):c.272T>A (p.Ile91Asn) single nucleotide variant Deoxygalactonojirimycin response [RCV000209224]|Fabry disease [RCV000209786] ChrX:101403908 [GRCh38]
ChrX:100658896 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) single nucleotide variant Deoxygalactonojirimycin response [RCV000209663]|Fabry disease [RCV000209274] ChrX:101401639 [GRCh38]
ChrX:100656627 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) single nucleotide variant Deoxygalactonojirimycin response [RCV000209546]|Fabry disease [RCV000209283] ChrX:101407842 [GRCh38]
ChrX:100662830 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) single nucleotide variant Deoxygalactonojirimycin response [RCV000209621]|Fabry disease [RCV000209347] ChrX:101398419 [GRCh38]
ChrX:100653407 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) single nucleotide variant Deoxygalactonojirimycin response [RCV000209629]|Fabry disease [RCV000209353] ChrX:101407797 [GRCh38]
ChrX:100662785 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) single nucleotide variant Deoxygalactonojirimycin response [RCV000209767]|Fabry disease [RCV000209382] ChrX:101398802 [GRCh38]
ChrX:100653790 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.980A>T (p.Gln327Leu) single nucleotide variant Deoxygalactonojirimycin response [RCV000209806]|Fabry disease [RCV000209419] ChrX:101398389 [GRCh38]
ChrX:100653377 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.3(GLA):c.797A>C (p.Asp266Ala) single nucleotide variant not specified [RCV000216195] ChrX:101398789 [GRCh38]
ChrX:100653777 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) single nucleotide variant Deoxygalactonojirimycin response [RCV000209758]|Fabry disease [RCV000209490] ChrX:101398032 [GRCh38]
ChrX:100653020 [GRCh37]
ChrX:Xq22.1
pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000169.2(GLA):c.926C>T (p.Ala309Val) single nucleotide variant Deoxygalactonojirimycin response [RCV000209717]|Fabry disease [RCV000209571]|not provided [RCV000414172] ChrX:101398443 [GRCh38]
ChrX:100653431 [GRCh37]
ChrX:Xq22.1
conflicting interpretations of pathogenicity|drug response|uncertain 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_000169.2(GLA):c.640-11T>C single nucleotide variant Fabry disease [RCV001189725]|not provided [RCV000231732] ChrX:101398957 [GRCh38]
ChrX:100653945 [GRCh37]
ChrX:Xq22.1
likely pathogenic|likely benign
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) single nucleotide variant Fabry disease [RCV000226316]|not provided [RCV000726826] ChrX:101397874 [GRCh38]
ChrX:100652862 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del deletion Fabry disease [RCV000806628]|not provided [RCV000223751] ChrX:101397959..101397974 [GRCh38]
ChrX:100652947..100652962 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000169.2(GLA):c.596T>C (p.Val199Ala) single nucleotide variant Fabry disease [RCV001229433]|not provided [RCV000724981] ChrX:101400709 [GRCh38]
ChrX:100655697 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+2454del deletion not provided [RCV000235570] ChrX:101397911 [GRCh38]
ChrX:100652899 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) single nucleotide variant Fabry disease [RCV000692369]|not provided [RCV000235716] ChrX:101398879 [GRCh38]
ChrX:100653867 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1081G>A (p.Gly361Arg) single nucleotide variant not provided [RCV000235836] ChrX:101398018 [GRCh38]
ChrX:100653006 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2606del deletion not provided [RCV000236188] ChrX:101398062 [GRCh38]
ChrX:100653050 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1255A>G (p.Asn419Asp) single nucleotide variant not provided [RCV000236612] ChrX:101397844 [GRCh38]
ChrX:100652832 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000169.2(GLA):c.369+3G>A single nucleotide variant Cardiovascular phenotype [RCV000622002] ChrX:101403808 [GRCh38]
ChrX:100658796 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
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
NM_000169.2(GLA):c.213G>A (p.Glu71=) single nucleotide variant Cardiovascular phenotype [RCV000249669] ChrX:101403967 [GRCh38]
ChrX:100658955 [GRCh37]
ChrX:Xq22.1
likely benign
NM_001199973.2(RPL36A-HNRNPH2):c.301-8048dup duplication Cardiovascular phenotype [RCV000242631]|not provided [RCV000384832] ChrX:101403884..101403885 [GRCh38]
ChrX:100658872..100658873 [GRCh37]
ChrX:Xq22.1
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
NM_001199973.2(RPL36A-HNRNPH2):c.300+3106A>T single nucleotide variant not provided [RCV000378974] ChrX:101398563 [GRCh38]
ChrX:100653551 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) single nucleotide variant Fabry disease [RCV001175033]|not provided [RCV000348159] ChrX:101403906 [GRCh38]
ChrX:100658894 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.457G>A (p.Asp153Asn) single nucleotide variant Fabry disease [RCV000387586]|Hypertrophic cardiomyopathy [RCV000293274] ChrX:101401722 [GRCh38]
ChrX:100656710 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+2478del deletion not provided [RCV000277340] ChrX:101397933 [GRCh38]
ChrX:100652921 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3348C>T single nucleotide variant not provided [RCV000269454] ChrX:101398805 [GRCh38]
ChrX:100653793 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.3(GLA):c.640-201_640-196del deletion not provided [RCV000833900] ChrX:101399142..101399147 [GRCh38]
ChrX:100654130..100654135 [GRCh37]
ChrX:Xq22.1
benign
NM_001199973.2(RPL36A-HNRNPH2):c.300+2586_300+2587del deletion Fabry disease [RCV000586203] ChrX:101398043..101398044 [GRCh38]
ChrX:100653031..100653032 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
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_001199973.2(RPL36A-HNRNPH2):c.300+6279C>T single nucleotide variant not provided [RCV000597745] ChrX:101401736 [GRCh38]
ChrX:100656724 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1
likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+2620del deletion not provided [RCV000329700] ChrX:101398076 [GRCh38]
ChrX:100653064 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2585_300+2586del deletion Fabry disease [RCV000362601]|not provided [RCV000725465] ChrX:101398041..101398042 [GRCh38]
ChrX:100653029..100653030 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001199973.2(RPL36A-HNRNPH2):c.301-8041C>T single nucleotide variant not provided [RCV000382027] ChrX:101403895 [GRCh38]
ChrX:100658883 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1181T>C (p.Leu394Pro) single nucleotide variant Fabry disease [RCV001183037]|not provided [RCV000316758] ChrX:101397918 [GRCh38]
ChrX:100652906 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.999+2T>C single nucleotide variant Fabry disease [RCV000984268]|not provided [RCV000317291] ChrX:101398368 [GRCh38]
ChrX:100653356 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) single nucleotide variant Fabry disease [RCV000781431]|not provided [RCV000305413] ChrX:101401757 [GRCh38]
ChrX:100656745 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3457_300+3465del deletion not provided [RCV000404274] ChrX:101398914..101398922 [GRCh38]
ChrX:100653902..100653910 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del deletion Fabry disease [RCV000627820]|not provided [RCV000627405] ChrX:101407878 [GRCh38]
ChrX:100662866 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3068_300+3070del deletion Fabry disease [RCV001298999]|not provided [RCV000598025] ChrX:101398525..101398527 [GRCh38]
ChrX:100653513..100653515 [GRCh37]
ChrX:Xq22.1
pathogenic|uncertain significance
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) single nucleotide variant Fabry disease [RCV000286285]|not provided [RCV000723404] ChrX:101398539 [GRCh38]
ChrX:100653527 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4159C>T single nucleotide variant not provided [RCV000298627] ChrX:101407777 [GRCh38]
ChrX:100662765 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) single nucleotide variant Fabry disease [RCV000324526]|not provided [RCV000726143] ChrX:101400691 [GRCh38]
ChrX:100655679 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-8024A>G single nucleotide variant not provided [RCV000341522] ChrX:101403912 [GRCh38]
ChrX:100658900 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.727T>A (p.Leu243Met) single nucleotide variant Fabry disease [RCV000626130] ChrX:101398859 [GRCh38]
ChrX:100653847 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+6298A>G single nucleotide variant not provided [RCV000301351] ChrX:101401755 [GRCh38]
ChrX:100656743 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1127T>A (p.Val376Glu) single nucleotide variant Fabry disease [RCV001243130]|not provided [RCV000519917] ChrX:101397972 [GRCh38]
ChrX:100652960 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.439G>A (p.Gly147Arg) single nucleotide variant Fabry disease [RCV000589918] ChrX:101401740 [GRCh38]
ChrX:100656728 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-8030C>T single nucleotide variant not provided [RCV000591773] ChrX:101403906 [GRCh38]
ChrX:100658894 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.2T>C (p.Met1Thr) single nucleotide variant Fabry disease [RCV000586866]|not provided [RCV000731977] ChrX:101407902 [GRCh38]
ChrX:100662890 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.1021G>T (p.Glu341Ter) single nucleotide variant Fabry disease [RCV000589205] ChrX:101398078 [GRCh38]
ChrX:100653066 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.132G>T (p.Trp44Cys) single nucleotide variant not provided [RCV000588414] ChrX:101407772 [GRCh38]
ChrX:100662760 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.-1A>G single nucleotide variant not provided [RCV000599393] ChrX:101407904 [GRCh38]
ChrX:100662892 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-8020del deletion not provided [RCV000598500] ChrX:101403915 [GRCh38]
ChrX:100658903 [GRCh37]
ChrX:Xq22.1
pathogenic
Single allele duplication Fabry disease [RCV000593513] ChrX:100662820..100662833 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.958A>C (p.Asn320His) single nucleotide variant not provided [RCV000590118] ChrX:101398411 [GRCh38]
ChrX:100653399 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+3051C>A single nucleotide variant not provided [RCV000593774] ChrX:101398508 [GRCh38]
ChrX:100653496 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4132T>C single nucleotide variant not provided [RCV000593782] ChrX:101407804 [GRCh38]
ChrX:100662792 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.547+397G>A single nucleotide variant not provided [RCV000597580] ChrX:101401235 [GRCh38]
ChrX:100656223 [GRCh37]
ChrX:Xq22.1
uncertain significance
NC_000023.10:g.100653509T>TT single nucleotide variant not provided [RCV000730632] ChrX:100653509 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4164C>T single nucleotide variant not provided [RCV000730691] ChrX:101407772 [GRCh38]
ChrX:100662760 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+6328C>T single nucleotide variant not provided [RCV000595439] ChrX:101401785 [GRCh38]
ChrX:100656773 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+5227_300+5235del deletion not provided [RCV000730246] ChrX:101400684..101400692 [GRCh38]
ChrX:100655672..100655680 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+5252A>C single nucleotide variant not provided [RCV000731085] ChrX:101400709 [GRCh38]
ChrX:100655697 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-4225T>C single nucleotide variant not provided [RCV000733743] ChrX:101407711 [GRCh38]
ChrX:100662699 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-8010C>T single nucleotide variant not provided [RCV000730015] ChrX:101403926 [GRCh38]
ChrX:100658914 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3428T>A single nucleotide variant not provided [RCV000731250] ChrX:101398885 [GRCh38]
ChrX:100653873 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+6279C>A single nucleotide variant not provided [RCV000733853] ChrX:101401736 [GRCh38]
ChrX:100656724 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+2480G>A single nucleotide variant not provided [RCV000735164] ChrX:101397937 [GRCh38]
ChrX:100652925 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+3423A>T single nucleotide variant not provided [RCV000728560] ChrX:101398880 [GRCh38]
ChrX:100653868 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-4203_301-4196delinsTAGGCAGA indel not provided [RCV000728628] ChrX:101407733..101407740 [GRCh38]
ChrX:100662721..100662728 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-8010C>A single nucleotide variant not provided [RCV000730039] ChrX:101403926 [GRCh38]
ChrX:100658914 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.300+6309_300+6324delinsGCAG indel not provided [RCV000735193] ChrX:101401766..101401781 [GRCh38]
ChrX:100656754..100656769 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3329del deletion not provided [RCV000728716] ChrX:101398786 [GRCh38]
ChrX:100653774 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3019T>C single nucleotide variant not provided [RCV000730379] ChrX:101398476 [GRCh38]
ChrX:100653464 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+2566del deletion not provided [RCV000734508] ChrX:101398022 [GRCh38]
ChrX:100653010 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.195-9C>A single nucleotide variant not provided [RCV000728844] ChrX:101403994 [GRCh38]
ChrX:100658982 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.777del (p.Gly261fs) deletion Fabry disease [RCV001222307]|not provided [RCV000732471] ChrX:101398809 [GRCh38]
ChrX:100653797 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.300+3016T>C single nucleotide variant not provided [RCV000732603] ChrX:101398473 [GRCh38]
ChrX:100653461 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_000169.2(GLA):c.295del (p.Gln99fs) deletion Cardiomyopathy [RCV000769542]|not provided [RCV000734859] ChrX:101403885 [GRCh38]
ChrX:100658873 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) single nucleotide variant Fabry disease [RCV000411879] ChrX:101403936 [GRCh38]
ChrX:100658924 [GRCh37]
ChrX:Xq22.1
likely pathogenic
NM_001199973.2(RPL36A-HNRNPH2):c.301-8010C>G single nucleotide variant not provided [RCV000732723] ChrX:101403926 [GRCh38]
ChrX:100658914 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_000169.2(GLA):c.640-1G>A single nucleotide variant Fabry disease [RCV000781421]|not provided [RCV000733701] ChrX:101398947 [GRCh38]
ChrX:100653935 [GRCh37]
ChrX:Xq22.1
pathogenic|likely pathogenic
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) single nucleotide variant Fabry disease [RCV000525086]|not provided [RCV000590425] ChrX:101403915 [GRCh38]
ChrX:100658903 [GRCh37]
ChrX:Xq22.1
likely pathogenic|uncertain significance
NM_001199973.2(RPL36A-HNRNPH2):c.301-4220C>T single nucleotide variant not provided [RCV000730949] ChrX:101407716 [GRCh38]
ChrX:100662704 [GRCh37]
ChrX:Xq22.1
pathogenic
NM_000169.2(GLA):c.994_995delinsGA (p.Arg332Glu) indel Fabry disease [RCV001191631]|not specified [RCV000414194] ChrX:101398374..101398375 [GRCh38]
ChrX:100653362..100653363 [GRCh37]
ChrX:Xq22.1
uncertain significance
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: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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
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 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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338.