Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. 29982630

2018

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients. 29867742

2018

dbSNP: rs104894845
rs104894845
0.860 GeneticVariation BEFREE Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA. 29631605

2018

dbSNP: rs104894845
rs104894845
0.860 GeneticVariation BEFREE The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients. 29867742

2018

dbSNP: rs28935197
rs28935197
0.860 GeneticVariation BEFREE Taken together, cardiac variant N215S mutation is rather an attenuated form of classical FD. 29294190

2018

dbSNP: rs28935197
rs28935197
0.860 GeneticVariation BEFREE To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. 29649853

2018

dbSNP: rs28935197
rs28935197
0.860 GeneticVariation BEFREE This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation. 30023289

2018

dbSNP: rs104894845
rs104894845
T 0.860 GeneticVariation CLINVAR Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 27979989

2017

dbSNP: rs104894845
rs104894845
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
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
C 0.860 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs28935197
rs28935197
C 0.860 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017

dbSNP: rs28935197
rs28935197
0.860 GeneticVariation BEFREE Abnormalities in lipid rafts (LRs) were observed in fibroblasts isolated from a male patient with FD bearing the mutation N215S. 28351893

2017

dbSNP: rs28935197
rs28935197
0.860 GeneticVariation BEFREE α-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy. 29018006

2017

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

2016

dbSNP: rs104894845
rs104894845
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
0.860 GeneticVariation BEFREE 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: rs28935197
rs28935197
0.860 GeneticVariation UNIPROT Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. 27142856

2016

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

2016

dbSNP: rs104894845
rs104894845
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
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
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
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
0.860 GeneticVariation BEFREE Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned. 24380807

2014

dbSNP: rs28935197
rs28935197
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