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Gene entry

RYR2

ryanodine receptor 2

Chromosome
1
Cytoband
1q43
Variants (rsID)
468

RYR2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q43). Its official name is “ryanodine receptor 2”. The reference table lists 468 variants (rsID) for this gene.

Clinically classified variants

174 reference-table entries with clinical significance.

  • rs113408406Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs114289907Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia
  • rs116442127Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs12725752Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2
  • rs138498780Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs1967579Benignsingle nucleotide variant
  • rs2275288Benignsingle nucleotide variant
  • rs2618698Benignsingle nucleotide variant
  • rs2618702Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiac arrhythmia
  • rs34967813Benignsingle nucleotide variantCardiomyopathy|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia
  • rs373261115Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs3766871Benignsingle nucleotide variantCardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs397516512Benignsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs397516526Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs4427395Benignsingle nucleotide variant
  • rs561321743Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs56229512Benignsingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs6657332Benignsingle nucleotide variant
  • rs6699085Benignsingle nucleotide variant
  • rs74323916Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs75160509Benignsingle nucleotide variant
  • rs751869107Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs78513709Benignsingle nucleotide variant
  • rs117180147Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs1373714510Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs144256966Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs180711819Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs186906598Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2
  • rs187977513Conflicting interpretationssingle nucleotide variant6 conditions|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs188671846Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Cardiomyopathy
  • rs190140598Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Ventricular fibrillation|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs193922623Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy|Ventricular fibrillation, paroxysmal familial, type 1|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia
  • rs193922624Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Cardiac arrhythmia
  • rs193922625Conflicting interpretationssingle nucleotide variantCardiomyopathy|Cardiac arrhythmia
  • rs193922626Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs193922627Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs193922628Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiac arrhythmia
  • rs200092869Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2|Conduction disorder of the heart
  • rs200105499Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs200236750Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Death in infancy|Cardiovascular phenotype|Cardiomyopathy
  • rs200420897Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs200450676Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Long QT syndrome|Cardiomyopathy
  • rs200525962Conflicting interpretationssingle nucleotide variantSudden cardiac death|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Sudden unexplained death|Hypertrophic cardiomyopathy
  • rs200642525Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs201500134Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Wolff-Parkinson-White pattern|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs201880756Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs202015519Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy
  • rs202176504Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs367992907Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs370972311Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs371088367Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs371934582Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs372601642Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs372631657Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs373024059Conflicting interpretationssingle nucleotide variantCardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs373282364Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs373606009Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs373721253Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs374155447Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia
  • rs376439588Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs377285489Conflicting interpretationssingle nucleotide variantCardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs377465289Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs397516501Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs397516524Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs398123540Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs41267517Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs72549417Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs727504997Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular cardiomyopathy
  • rs748937501Conflicting interpretationssingle nucleotide variantCardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs753850982Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs755520825Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs758500988Conflicting interpretationssingle nucleotide variantCardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs765283048Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs774657844Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs776091285Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs780664060Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs79457258Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs794727676Conflicting interpretationssingle nucleotide variant
  • rs794728704Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728710Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728715Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728775Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728788Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs794728799Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia
  • rs794728803Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs794728831Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs886038888Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs199693714Likely benignsingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs201081663Likely benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs775418111Likely benignDeletionCatecholaminergic polymorphic ventricular tachycardia
  • rs80013027Likely benignsingle nucleotide variant
  • rs1057517873Likely pathogenicsingle nucleotide variant
  • rs1064793256Likely pathogenicsingle nucleotide variant
  • rs1064794753Likely pathogenicsingle nucleotide variant
  • rs1415931588Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs193922622Likely pathogenicsingle nucleotide variantCardiac arrhythmia
  • rs730880187Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia
  • rs730880196Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
  • rs730880199Likely pathogenicsingle nucleotide variantLeft ventricular noncompaction cardiomyopathy
  • rs730880201Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1
  • rs794728707Likely pathogenicsingle nucleotide variant
  • rs794728711Likely pathogenicsingle nucleotide variant
  • rs794728713Likely pathogenicsingle nucleotide variant
  • rs794728718Likely pathogenicsingle nucleotide variant
  • rs794728743Likely pathogenicsingle nucleotide variant
  • rs794728744Likely pathogenicsingle nucleotide variant
  • rs794728745Likely pathogenicsingle nucleotide variant
  • rs794728748Likely pathogenicsingle nucleotide variant
  • rs794728750Likely pathogenicsingle nucleotide variant
  • rs794728757Likely pathogenicsingle nucleotide variant
  • rs794728778Likely pathogenicsingle nucleotide variant
  • rs794728780Likely pathogenicsingle nucleotide variant
  • rs794728782Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728785Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1
  • rs794728806Likely pathogenicsingle nucleotide variant
  • rs794728809Likely pathogenicsingle nucleotide variant
  • rs794728810Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728812Likely pathogenicDeletion
  • rs794728828Likely pathogenicsingle nucleotide variant
  • rs794728832Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs863223354Likely pathogenicsingle nucleotide variantChildhood-Onset Schizophrenia
  • rs863223355Likely pathogenicsingle nucleotide variantChildhood-Onset Schizophrenia
  • rs876661387Likely pathogenicsingle nucleotide variant
  • rs886037907Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1
  • rs886037908Likely pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1
  • rs886039458Likely pathogenicsingle nucleotide variant
  • rs1064796516Pathogenicsingle nucleotide variant
  • rs121918597Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs121918598Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1
  • rs121918599Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1
  • rs121918600Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype
  • rs121918601Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 2
  • rs121918602Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Long QT syndrome|Cardiovascular phenotype
  • rs121918603Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1
  • rs121918605Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia
  • rs121918606Pathogenicsingle nucleotide variantVentricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
  • rs1401116572Pathogenicsingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia
  • rs794728740Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728754Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs794728755Pathogenicsingle nucleotide variant
  • rs794728777Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728779Pathogenicsingle nucleotide variant
  • rs794728786Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728787Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 1
  • rs794728802Pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs794728808Pathogenicsingle nucleotide variant
  • rs794728811Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia
  • rs794728814Pathogenicsingle nucleotide variant
  • rs794728826Pathogenicsingle nucleotide variantCardiomyopathy
  • rs142498105Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs182778119Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs201211033Uncertain significancesingle nucleotide variantPolymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs369512347Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs375021201Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs376612295Uncertain significancesingle nucleotide variantPolymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2
  • rs730880191Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
  • rs730880200Uncertain significancesingle nucleotide variantVentricular fibrillation, paroxysmal familial, type 1
  • rs748194372Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy
  • rs750908017Uncertain significancesingle nucleotide variantCardiomyopathy
  • rs758785338Uncertain significancesingle nucleotide variantCardiomyopathy
  • rs768711283Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2
  • rs786205454Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs786205455Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia
  • rs794728705Uncertain significancesingle nucleotide variant
  • rs794728751Uncertain significancesingle nucleotide variant
  • rs794728781Uncertain significancesingle nucleotide variant
  • rs794728789Uncertain significancesingle nucleotide variant
  • rs794728801Uncertain significancesingle nucleotide variant
  • rs794728805Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728807Uncertain significancesingle nucleotide variant
  • rs794728825Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs794728829Uncertain significancesingle nucleotide variant
  • rs794728830Uncertain significancesingle nucleotide variant
  • rs794728834Uncertain significanceDeletion

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.