Gene: DSG2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR The ARVC-associated DSG2-p.R46Q variation was predicted to be probably damaging by bioinformatics tools and to concern a conserved proprotein convertase cleavage site. 23071725

2012
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. 21606396

2011
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390

2011
dbSNP: rs191564916
rs191564916
DSG2
G 0.710 GeneticVariation CLINVAR Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 21636032

2011
dbSNP: rs191564916
rs191564916
DSG2
G 0.710 GeneticVariation CLINVAR Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 21859740

2011
dbSNP: rs191564916
rs191564916
DSG2
G 0.710 GeneticVariation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390

2011
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 20400443

2010
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20857253

2010
dbSNP: rs191564916
rs191564916
DSG2
G 0.710 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. 20031616

2009
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617

2009
dbSNP: rs191564916
rs191564916
DSG2
G 0.710 GeneticVariation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617

2009
dbSNP: rs121913008
rs121913008
DSG2
A 0.710 CausalMutation CLINVAR DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16773573

2006
dbSNP: rs121913006
rs121913006
DSG2
A 0.700 GeneticVariation CLINVAR Phenotypic expression of ARVC: How 12 lead ECG can predict left or right ventricle involvement. A familiar case series and a review of literature. 28283360

2017
dbSNP: rs121913006
rs121913006
DSG2
A 0.700 GeneticVariation CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315

2015
dbSNP: rs397516709
rs397516709
DSG2
C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs397516709
rs397516709
DSG2
C 0.700 GeneticVariation CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315

2015
dbSNP: rs121913006
rs121913006
DSG2
A 0.700 GeneticVariation CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136

2013
dbSNP: rs397516709
rs397516709
DSG2
C 0.700 GeneticVariation CLINVAR Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23810894

2013
dbSNP: rs397516703
rs397516703
DSG2
T 0.700 CausalMutation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390

2011
dbSNP: rs869025388
rs869025388
DSG2
A 0.700 GeneticVariation CLINVAR Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 21606390

2011
dbSNP: rs121913006
rs121913006
DSG2
A 0.700 GeneticVariation CLINVAR Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
dbSNP: rs121913006
rs121913006
DSG2
A 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
dbSNP: rs121913006
rs121913006
DSG2
A 0.700 GeneticVariation CLINVAR Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20857253

2010