Source: CLINVAR

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750743
rs63750743
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs63750743
rs63750743
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
0.800 CausalMutation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740

2013

dbSNP: rs63750743
rs63750743
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
0.800 CausalMutation CLINVAR Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. 21214875

2011

dbSNP: rs63750743
rs63750743
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
0.800 CausalMutation CLINVAR Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 18313022

2008

dbSNP: rs63750743
rs63750743
Arrhythmogenic Right Ventricular Dysplasia
0.750 CausalMutation CLINVAR The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus. 24598986

2015

dbSNP: rs63750743
rs63750743
Arrhythmogenic Right Ventricular Dysplasia
0.750 CausalMutation CLINVAR The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. 22725725

2014

dbSNP: rs63750743
rs63750743
Arrhythmogenic Right Ventricular Dysplasia
0.750 CausalMutation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740

2013

dbSNP: rs63750743
rs63750743
Arrhythmogenic Right Ventricular Dysplasia
0.750 CausalMutation CLINVAR Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. 22458570

2012

dbSNP: rs63750743
rs63750743
Arrhythmogenic Right Ventricular Dysplasia
0.750 CausalMutation CLINVAR Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. 21214875

2011

dbSNP: rs63750743
rs63750743
Arrhythmogenic Right Ventricular Dysplasia
0.750 CausalMutation CLINVAR Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 18313022

2008