Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501186
rs1060501186
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		A 0.800 CausalMutation CLINVAR

dbSNP: rs794729098
rs794729098
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		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
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		G 0.800 CausalMutation CLINVAR Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. 22781308

2012
dbSNP: rs794729098
rs794729098
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		G 0.800 CausalMutation CLINVAR Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 21636032

2011
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. 24704780

2014
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. 23178689

2013
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 22177269

2012
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders? 19955750

2010
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia. 21301620

2010
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617

2009
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR The purpose of this study was to investigate the function and distribution of an ARVC-relevant PKP2 mutant where arginine at position 79 was replaced by a stop codon (R79x). 19084810

2008
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 16549640

2006
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16567567

2006
dbSNP: rs121434420
rs121434420
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004
dbSNP: rs121434421
rs121434421
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent ARVC phenotype. 25857910

2015
dbSNP: rs121434421
rs121434421
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. 24967631

2014
dbSNP: rs121434421
rs121434421
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. 24125834

2013
dbSNP: rs121434421
rs121434421
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		A 0.710 CausalMutation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004
dbSNP: rs1060501182
rs1060501182
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060501184
rs1060501184
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		T 0.700 GeneticVariation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004
dbSNP: rs1060501188
rs1060501188
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		G 0.700 GeneticVariation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
dbSNP: rs1060501188
rs1060501188
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		G 0.700 GeneticVariation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004
dbSNP: rs1064792927
rs1064792927
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		GCGCTCTCCTCCCGCTGGAATCCA 0.700 CausalMutation CLINVAR

dbSNP: rs1064792929
rs1064792929
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		TTTTGGCGAT 0.700 CausalMutation CLINVAR

dbSNP: rs111517471
rs111517471
PKP2
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		T 0.700 CausalMutation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740

2013