Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies. 28649509

2017
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. 25382311

2015
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. 24386359

2013
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. 17555407

2007
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. 11914245

2002
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. 7575533

1995
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR