Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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 Taken together, cardiac variant N215S mutation is rather an attenuated form of classical FD. 29294190

2018

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: 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: 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: 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: rs104894845
rs104894845
0.860 GeneticVariation BEFREE The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%). 20007919

2010

dbSNP: rs28935197
rs28935197
0.860 GeneticVariation BEFREE The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members. 18849176

2008

dbSNP: rs104894845
rs104894845
0.860 GeneticVariation BEFREE Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. 16533976

2006

dbSNP: rs104894828
rs104894828
0.840 GeneticVariation BEFREE Hemizygous mutations associated with Fabry disease were detected in two male patients (2.50% of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln). 31446751

2019

dbSNP: rs104894828
rs104894828
0.840 GeneticVariation BEFREE A transgenic mouse expressing the human α-Gal A R301Q mutant in an α-Gal A-knockout background (TgM/KO) should be useful for studying active-site-specific chaperone (ASSC) therapy for Fabry disease. 20961863

2011

dbSNP: rs104894828
rs104894828
0.840 GeneticVariation BEFREE DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. 17555407

2007

dbSNP: rs104894828
rs104894828
0.840 GeneticVariation BEFREE Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. 1315715

1992

dbSNP: rs869312142
rs869312142
0.830 GeneticVariation BEFREE A founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region. 31519519

2020

dbSNP: rs869312142
rs869312142
0.830 GeneticVariation BEFREE The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity. 31200018

2020

dbSNP: rs104894834
rs104894834
0.830 GeneticVariation BEFREE Hemizygous mutations associated with Fabry disease were detected in two male patients (2.50% of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln). 31446751

2019

dbSNP: rs104894834
rs104894834
0.830 GeneticVariation BEFREE These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage. 23867994

2013

dbSNP: rs869312142
rs869312142
0.830 GeneticVariation BEFREE Interestingly, the I91T and F113L mutations are associated with the atypical form of Fabry disease. 19287194

2009

dbSNP: rs104894834
rs104894834
0.830 GeneticVariation BEFREE In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other. 1315715

1992

dbSNP: rs104894848
rs104894848
0.820 GeneticVariation BEFREE Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease. 10845698

2000

dbSNP: rs104894848
rs104894848
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: rs28935494
rs28935494
0.810 GeneticVariation BEFREE This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. 31634893

2020