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Gene entry

PKP2

plakophilin 2

Chromosome
12
Cytoband
12p11.21
Variants (rsID)
158

PKP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p11.21). Its official name is “plakophilin 2”. The reference table lists 158 variants (rsID) for this gene.

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Clinically classified variants

110 reference-table entries with clinical significance.

  • rs1046116Benignsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs138901574Benignsingle nucleotide variantVentricular fibrillation, paroxysmal familial, type 1|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs139851304Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|Cardiomyopathy
  • rs142742483Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs143004808Benignsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
  • rs146708884Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs147240502Benignsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Family history of cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs535581825Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs62001015Benignsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs6488090Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs74072938Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs1060501188Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs139159464Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs140852019Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs143900944Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs144018320Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|Cardiomyopathy
  • rs144601090Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|Cardiomyopathy
  • rs199571473Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Primary dilated cardiomyopathy
  • rs200122872Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs200586695Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs201944276Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs368656084Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs376613662Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs397516988Conflicting interpretationsDeletionCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9
  • rs551045165Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Primary dilated cardiomyopathy|Cardiomyopathy
  • rs727504098Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs755215178Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs768286281Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs775995156Conflicting interpretationsDeletionArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs368740836Likely benignsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs1057520726Likely pathogenicsingle nucleotide variant
  • rs1060501184Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs1064796268Likely pathogenicDeletion
  • rs143397927Likely pathogenicsingle nucleotide variant
  • rs201405287Likely pathogenicsingle nucleotide variant
  • rs397516990Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs397516993Likely pathogenicDeletionArrhythmogenic right ventricular cardiomyopathy
  • rs397517001Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs397517005Likely pathogenicDeletionArrhythmogenic right ventricular cardiomyopathy
  • rs397517017Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs397517025Likely pathogenicDeletionArrhythmogenic right ventricular cardiomyopathy|Ventricular tachycardia
  • rs727504786Likely pathogenicDeletionArrhythmogenic right ventricular cardiomyopathy
  • rs730880180Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs786205476Likely pathogenicsingle nucleotide variant
  • rs794729099Likely pathogenicsingle nucleotide variant
  • rs794729100Likely pathogenicsingle nucleotide variant
  • rs794729111Likely pathogenicsingle nucleotide variant
  • rs794729130Likely pathogenicDeletion
  • rs794729135Likely pathogenicsingle nucleotide variant
  • rs869025496Likely pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype
  • rs876657659Likely pathogenicDuplicationArrhythmogenic right ventricular cardiomyopathy
  • rs1057520650Pathogenicsingle nucleotide variant
  • rs1060501182PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs1060501186Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs1064793231PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs1064793905Pathogenicsingle nucleotide variant
  • rs1064794350PathogenicMicrosatelliteFamilial isolated arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular dysplasia 9
  • rs1064796069PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs111517471Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic ventricular cardiomyopathy|Aborted sudden cardiac death|Cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia
  • rs121434420Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Cardiac arrhythmia
  • rs121434421Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Arrhythmogenic right ventricular cardiomyopathy
  • rs1353074803PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs1425855043Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs1453983744Pathogenicsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9
  • rs1486464304Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs193922672Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|Cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia
  • rs193922673Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs193922674Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
  • rs372827156Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Cardiomyopathy
  • rs397517003Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs397517008PathogenicDeletionArrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
  • rs397517010PathogenicDuplicationArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia
  • rs397517015Pathogenicsingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy
  • rs751288871Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs754912778Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs760576804Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs764817683PathogenicDeletionCardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Cardiac arrhythmia
  • rs767987619Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype
  • rs769220833PathogenicDuplicationArrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
  • rs772220644PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs774663443Pathogenicsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 9
  • rs779082302Pathogenicsingle nucleotide variant
  • rs786204388PathogenicDeletionSudden unexplained death|Arrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs786204392Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs786204393Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs78897684Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs794729098Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs794729104Pathogenicsingle nucleotide variant
  • rs794729108Pathogenicsingle nucleotide variant
  • rs794729109Pathogenicsingle nucleotide variant
  • rs794729116Pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs794729117PathogenicDeletion
  • rs794729118PathogenicDeletion
  • rs794729119PathogenicDeletion
  • rs794729121PathogenicDeletion
  • rs794729123PathogenicMicrosatellite
  • rs794729124PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs794729126PathogenicDeletionFamilial isolated arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular dysplasia 9|Arrhythmogenic right ventricular cardiomyopathy
  • rs794729127PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs794729128PathogenicDeletion
  • rs794729129PathogenicDeletionArrhythmogenic right ventricular dysplasia 9
  • rs794729132Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Familial isolated arrhythmogenic right ventricular dysplasia
  • rs794729133Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs886041322Pathogenicsingle nucleotide variant
  • rs117425357Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy
  • rs1314470423Uncertain significancesingle nucleotide variantCardiomyopathy
  • rs1354122232Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 9
  • rs199583774Uncertain significancesingle nucleotide variantPrimary dilated cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|Cardiomyopathy
  • rs200343561Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiovascular phenotype|Cardiomyopathy
  • rs373222905Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 9|Cardiomyopathy

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.