rs121913006
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
A
0.800
CausalMutation
CLINVAR
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
A
0.800
CausalMutation
CLINVAR
rs121913009
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
A
0.800
CausalMutation
CLINVAR
rs121913010
DSG2;DSG2-AS1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
T
0.800
CausalMutation
CLINVAR
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
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
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
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
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
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
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
A
0.710
CausalMutation
CLINVAR
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
21606390
2011
rs191564916
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
G
0.710
GeneticVariation
CLINVAR
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
21636032
2011
rs191564916
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
G
0.710
GeneticVariation
CLINVAR
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
21859740
2011
rs191564916
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
G
0.710
GeneticVariation
CLINVAR
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
21606390
2011
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
A
0.710
CausalMutation
CLINVAR
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
20400443
2010
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
A
0.710
CausalMutation
CLINVAR
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
20857253
2010
rs191564916
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
G
0.710
GeneticVariation
CLINVAR
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
20152563
2010
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
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
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
A
0.710
CausalMutation
CLINVAR
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
20031617
2009
rs191564916
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
G
0.710
GeneticVariation
CLINVAR
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
20031617
2009
rs121913008
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
A
0.710
CausalMutation
CLINVAR
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
16773573
2006
rs121913006
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
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
rs553299589
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
A
0.700
GeneticVariation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
rs121913006
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
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
rs397516709
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
C
0.700
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
rs397516709
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
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
rs121913006
×
Entrez Id:
1829
Gene Symbol:
DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
A
0.700
GeneticVariation
CLINVAR
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
23671136
2013
rs1375081885
DSG2;DSG2-AS1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
C
0.700
CausalMutation
CLINVAR
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
23381804
2013