Gene: GLA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 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
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. 8069316

1994
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480

1999
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. 27142856

2016
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. 2171331

1990
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Mutation analysis in 11 French patients with Fabry disease. 9452111

1998
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. 9105656

1997
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation BEFREE Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. 9554750

1998
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. 7759078

1995
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 16980809

2006
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. 23860966

2013
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. 2152885

1990
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. 10208848

1999
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT An atypical variant of Fabry's disease with manifestations confined to the myocardium. 1846223

1991
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 2539398

1989
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. 10838196

2000
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease. 11295840

2001
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT An atypical variant of Fabry's disease in men with left ventricular hypertrophy. 7596372

1995
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. 1315715

1992
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT HFSA 2010 Comprehensive Heart Failure Practice Guideline. 20610207

2010
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
G 0.820 CausalMutation CLINVAR

dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT This change is more consistent with the clinical presentation of the patient, the classical Fabry disease, than the amino acid substitution (S65T), which does not affect the enzyme function. 12786754

2003
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.820 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014