Gene: GLA ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 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: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 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: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations. 27142856

2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. 27142856

2016
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 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
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 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
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. 23860966

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. 23860966

2013
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Clinical utility gene card for: Fabry disease. 21934708

2012
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Clinical utility gene card for: Fabry disease. 21934708

2012
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT HFSA 2010 Comprehensive Heart Failure Practice Guideline. 20610207

2010
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT HFSA 2010 Comprehensive Heart Failure Practice Guideline. 20610207

2010
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 16980809

2006
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 16980809

2006
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754

2003
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. 12786754

2003
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
0.860 GeneticVariation UNIPROT Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 12735292

2002