Gene: GLA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312265
rs869312265
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Our study reveals the pathogenesis of splicing mutation c.801 + 1G > A to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD. 30853972

2019
dbSNP: rs868949479
rs868949479
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%. 27576502

2016
dbSNP: rs869312346
rs869312346
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%. 27576502

2016
dbSNP: rs869312255
rs869312255
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. 25977923

2015
dbSNP: rs869312400
rs869312400
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5). 26269958

2015
dbSNP: rs869312402
rs869312402
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5). 26269958

2015
dbSNP: rs869312304
rs869312304
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE One man had a novel mutation, GLA p.Ala5Glu (c.44C>A), presenting as classical FD. 22805550

2013
dbSNP: rs149391489
rs149391489
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease. 20360539

2010
dbSNP: rs730880455
rs730880455
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the alpha-galactosidase gene causing classical Fabry's disease in this family. 12480979

2003
dbSNP: rs1555984840
rs1555984840
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Female Fabry disease patients and X-chromosome inactivation. 29079200

2018
dbSNP: rs797044777
rs797044777
GLA ; RPL36A-HNRNPH2
C 0.700 CausalMutation CLINVAR Female Fabry disease patients and X-chromosome inactivation. 29079200

2018
dbSNP: rs869312401
rs869312401
GLA ; RPL36A-HNRNPH2
A 0.700 CausalMutation CLINVAR Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease. 29491734

2018
dbSNP: rs886044766
rs886044766
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Conjunctival lymphangiectasia associated with classic Fabry disease. 28500230

2018
dbSNP: rs1555987101
rs1555987101
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.700 CausalMutation CLINVAR A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. 27211852

2017
dbSNP: rs1555987232
rs1555987232
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.700 CausalMutation CLINVAR Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. 28672034

2017
dbSNP: rs1555987232
rs1555987232
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.700 CausalMutation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs1569304190
rs1569304190
GLA ; RPL36A-HNRNPH2
C 0.700 GeneticVariation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs1569304886
rs1569304886
GLA ; RPL36A-HNRNPH2
C 0.700 GeneticVariation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. 28430823

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. 27554049

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. 28377241

2017
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
T 0.700 CausalMutation CLINVAR Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. 28082092

2017
dbSNP: rs398123217
rs398123217
GLA ; RPL36A-HNRNPH2
C 0.700 CausalMutation CLINVAR Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. 28756410

2017
dbSNP: rs398123221
rs398123221
GLA ; RPL36A-HNRNPH2
A 0.700 CausalMutation CLINVAR Fabry Disease: An Uncommon Cause of Renal Failure. 28389313

2017
dbSNP: rs782197638
rs782197638
GLA ; RPL36A-HNRNPH2
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017