Gene: PKP2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729098
rs794729098
PKP2
G 0.800 CausalMutation CLINVAR Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 23863954

2013
dbSNP: rs794729098
rs794729098
PKP2
G 0.800 CausalMutation CLINVAR Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. 22781308

2012
dbSNP: rs794729098
rs794729098
PKP2
G 0.800 CausalMutation CLINVAR Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 21636032

2011
dbSNP: rs1060501186
rs1060501186
PKP2
A 0.800 CausalMutation CLINVAR

dbSNP: rs144601090
rs144601090
PKP2
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516986
rs397516986
PKP2
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397517010
rs397517010
PKP2
CA 0.700 CausalMutation CLINVAR Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications. 28588093

2017
dbSNP: rs397517021
rs397517021
PKP2
C 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs786204389
rs786204389
PKP2
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs193922672
rs193922672
PKP2
T 0.700 CausalMutation CLINVAR Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 26743238

2016
dbSNP: rs193922674
rs193922674
PKP2
G 0.700 CausalMutation CLINVAR Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant. 27335691

2016
dbSNP: rs193922674
rs193922674
PKP2
G 0.700 CausalMutation CLINVAR Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking. 26676851

2016
dbSNP: rs397517012
rs397517012
PKP2
A 0.700 CausalMutation CLINVAR Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 26743238

2016
dbSNP: rs1565599473
rs1565599473
PKP2
A 0.700 CausalMutation CLINVAR Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy. 25765472

2015
dbSNP: rs763639737
rs763639737
PKP2
T 0.700 CausalMutation CLINVAR Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications. 24832006

2015
dbSNP: rs794729127
rs794729127
PKP2
G 0.700 CausalMutation CLINVAR Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report. 26701096

2015
dbSNP: rs121434420
rs121434420
PKP2
A 0.700 CausalMutation CLINVAR Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. 24704780

2014
dbSNP: rs193922674
rs193922674
PKP2
G 0.700 CausalMutation CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. 24585727

2014
dbSNP: rs193922674
rs193922674
PKP2
G 0.700 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157

2014
dbSNP: rs193922674
rs193922674
PKP2
G 0.700 CausalMutation CLINVAR Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy. 25087486

2014
dbSNP: rs372827156
rs372827156
PKP2
A 0.700 CausalMutation CLINVAR Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. 24967631

2014
dbSNP: rs372827156
rs372827156
PKP2
A 0.700 CausalMutation CLINVAR Post-mortem genetic analysis in juvenile cases of sudden cardiac death. 25447171

2014
dbSNP: rs372827156
rs372827156
PKP2
A 0.700 CausalMutation CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. 24585727

2014
dbSNP: rs397517012
rs397517012
PKP2
A 0.700 CausalMutation CLINVAR Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. 24967631

2014
dbSNP: rs397517021
rs397517021
PKP2
C 0.700 CausalMutation CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. 24585727

2014