Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.820 CausalMutation CLINVAR

dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.810 CausalMutation CLINVAR

dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR 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: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR X-chromosome inactivation in female patients with Fabry disease. 25974833

2016
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Mutation analysis in 11 French patients with Fabry disease. 9452111

1998
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. 7531540

1994
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Mutational analysis of the GLA gene in Mexican families with Fabry disease. 28360401

2017
dbSNP: rs869312139
rs869312139
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs869312138
rs869312138
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		C 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs869312137
rs869312137
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs869312136
rs869312136
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		C 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs869312135
rs869312135
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs869312134
rs869312134
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. 8875188

1996
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. 19287194

2009
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. 18205205

2008
dbSNP: rs104894836
rs104894836
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		C 0.800 CausalMutation CLINVAR

dbSNP: rs104894835
rs104894835
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		C 0.800 CausalMutation CLINVAR A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. 21598360

2011
dbSNP: rs104894835
rs104894835
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		C 0.800 CausalMutation CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405

1993
dbSNP: rs104894835
rs104894835
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		C 0.800 CausalMutation CLINVAR Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. 16595074

2006
dbSNP: rs869312316
rs869312316
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312226
rs869312226
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.700 CausalMutation CLINVAR Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study. 17452128

2007