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Gene entry

KCNH2

potassium voltage-gated channel subfamily H member 2

Chromosome
7
Cytoband
7q36.1
Variants (rsID)
195

KCNH2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q36.1). Its official name is “potassium voltage-gated channel subfamily H member 2”. The reference table lists 195 variants (rsID) for this gene.

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Clinically classified variants

186 reference-table entries with clinical significance.

  • rs1805123Benignsingle nucleotide variantAtrial fibrillation|Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 2|Cardiac arrhythmia
  • rs1057523338Conflicting interpretationssingle nucleotide variantLong QT syndrome
  • rs1064793147Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
  • rs1064794494Conflicting interpretationsDeletionCardiac arrhythmia
  • rs138498207Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 2|Cardiac arrhythmia|Brugada syndrome 1
  • rs138776684Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Long QT syndrome 2|Cardiac arrhythmia
  • rs141401803Conflicting interpretationssingle nucleotide variantSUDDEN INFANT DEATH SYNDROME|Cardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia
  • rs144338227Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Long QT syndrome 2|Cardiac arrhythmia
  • rs144926928Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Long QT syndrome 2|Cardiac arrhythmia
  • rs149902084Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
  • rs149955375Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Long QT syndrome 2|Cardiac arrhythmia
  • rs199472864Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Long QT syndrome 2|Cardiac arrhythmia
  • rs199472894Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199472897Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome
  • rs199472983Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Inborn genetic diseases
  • rs199473422Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199473432Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Long QT syndrome 2|Cardiac arrhythmia
  • rs199473434Conflicting interpretationssingle nucleotide variantSUDDEN INFANT DEATH SYNDROME|Long QT syndrome|Long QT syndrome 2|Long QT syndrome 1|Cardiac arrhythmia
  • rs199473505Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Long QT syndrome 2|Cardiac arrhythmia
  • rs199473532Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
  • rs199473544Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome 2|Long QT syndrome|Cardiac arrhythmia
  • rs200799870Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia
  • rs201627778Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome 2|Long QT syndrome|Cardiac arrhythmia
  • rs370637245Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome 2|Long QT syndrome
  • rs41307270Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia
  • rs72549418Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Long QT syndrome 2|Cardiac arrhythmia
  • rs72549419Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
  • rs766379103Conflicting interpretationssingle nucleotide variantLong QT syndrome
  • rs76649554Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia
  • rs770047651Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia
  • rs794728383Conflicting interpretationssingle nucleotide variantLong QT syndrome
  • rs794728387Conflicting interpretationssingle nucleotide variantLong QT syndrome
  • rs794728476Conflicting interpretationsDuplicationCardiac arrhythmia
  • rs794728484Conflicting interpretationssingle nucleotide variantLong QT syndrome
  • rs794728493Conflicting interpretationssingle nucleotide variantLong QT syndrome
  • rs886039064Conflicting interpretationssingle nucleotide variantCardiovascular phenotype
  • rs916754925Conflicting interpretationssingle nucleotide variantLong QT syndrome|Long QT syndrome 2|Cardiac arrhythmia
  • rs972201049Conflicting interpretationssingle nucleotide variantShort QT syndrome type 1|Long QT syndrome 2|Long QT syndrome|Cardiac arrhythmia
  • rs141117135Likely benignsingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
  • rs1057517866Likely pathogenicsingle nucleotide variant
  • rs1057520477Likely pathogenicsingle nucleotide variant
  • rs1057520598Likely pathogenicsingle nucleotide variantLong QT syndrome
  • rs1057522921Likely pathogenicsingle nucleotide variant
  • rs1064793146Likely pathogenicsingle nucleotide variant
  • rs1064793368Likely pathogenicDeletion
  • rs1064793523Likely pathogenicDeletion
  • rs1064796584Likely pathogenicDeletion
  • rs121912512Likely pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome|Long QT syndrome
  • rs199472845Likely pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199472884Likely pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome 2|Long QT syndrome
  • rs199472926Likely pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199472986Likely pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199472997Likely pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199473413Likely pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs764831888Likely pathogenicsingle nucleotide variant
  • rs771674303Likely pathogenicsingle nucleotide variant
  • rs794728368Likely pathogenicsingle nucleotide variant
  • rs794728369Likely pathogenicsingle nucleotide variant
  • rs794728373Likely pathogenicsingle nucleotide variant
  • rs794728385Likely pathogenicsingle nucleotide variant
  • rs794728386Likely pathogenicsingle nucleotide variant
  • rs794728390Likely pathogenicsingle nucleotide variant
  • rs794728402Likely pathogenicsingle nucleotide variant
  • rs794728406Likely pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728407Likely pathogenicsingle nucleotide variant
  • rs794728408Likely pathogenicsingle nucleotide variant
  • rs794728432Likely pathogenicDuplication
  • rs794728437Likely pathogenicDeletion
  • rs794728480Likely pathogenicsingle nucleotide variant
  • rs794728482Likely pathogenicsingle nucleotide variant
  • rs794728487Likely pathogenicsingle nucleotide variant
  • rs796052196Likely pathogenicsingle nucleotide variantLong QT syndrome
  • rs869025448Likely pathogenicDuplicationLong QT syndrome 2
  • rs886039183Likely pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs104894021Pathogenicsingle nucleotide variantShort QT syndrome type 1|Short QT syndrome
  • rs1057517742Pathogenicsingle nucleotide variantLong QT syndrome
  • rs1057518089PathogenicDuplication
  • rs1057518151Pathogenicsingle nucleotide variantLong QT syndrome
  • rs1057518169Pathogenicsingle nucleotide variant
  • rs1057520558Pathogenicsingle nucleotide variantLong QT syndrome
  • rs1060500662PathogenicMicrosatelliteLong QT syndrome
  • rs1060500670PathogenicDeletionLong QT syndrome
  • rs1064794793Pathogenicsingle nucleotide variantLong QT syndrome
  • rs121912504Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Prolonged QT interval|Obesity
  • rs121912505Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome
  • rs121912506Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome 1|Long QT syndrome
  • rs121912507Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome|Long QT syndrome
  • rs121912508Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome|Long QT syndrome
  • rs121912509Pathogenicsingle nucleotide variantLong QT syndrome 2|Long QT syndrome
  • rs121912510Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome|Long QT syndrome
  • rs121912511Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome
  • rs121912516Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome
  • rs1368439403Pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs189014161Pathogenicsingle nucleotide variantLong QT syndrome 2|Long QT syndrome|Cardiovascular phenotype
  • rs199472918Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome 2|Cardiovascular phenotype|Long QT syndrome
  • rs199472941Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199472942Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome
  • rs199472944Pathogenicsingle nucleotide variantLong QT syndrome 2|Congenital long QT syndrome|Long QT syndrome
  • rs199472953Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome 2
  • rs199472970Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome 2
  • rs199472999Pathogenicsingle nucleotide variantCongenital long QT syndrome
  • rs199473522Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Inborn genetic diseases
  • rs199473524Pathogenicsingle nucleotide variantCongenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome|Short QT syndrome type 1|Long QT syndrome 2
  • rs199473538Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype
  • rs730880116Pathogenicsingle nucleotide variantLong QT syndrome 2|Long QT syndrome
  • rs748706373PathogenicDeletionCardiovascular phenotype|Long QT syndrome|Cardiac arrhythmia
  • rs755698372Pathogenicsingle nucleotide variant
  • rs794728351Pathogenicsingle nucleotide variant
  • rs794728364Pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728365Pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728366Pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728374Pathogenicsingle nucleotide variant
  • rs794728375Pathogenicsingle nucleotide variant
  • rs794728377Pathogenicsingle nucleotide variant
  • rs794728378Pathogenicsingle nucleotide variant
  • rs794728381Pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728382Pathogenicsingle nucleotide variantLong QT syndrome 2|Short QT syndrome type 1
  • rs794728391Pathogenicsingle nucleotide variantLong QT syndrome 2
  • rs794728394Pathogenicsingle nucleotide variant
  • rs794728409Pathogenicsingle nucleotide variantLong QT syndrome 2
  • rs794728410Pathogenicsingle nucleotide variant
  • rs794728411Pathogenicsingle nucleotide variant
  • rs794728416Pathogenicsingle nucleotide variant
  • rs794728417Pathogenicsingle nucleotide variant
  • rs794728419Pathogenicsingle nucleotide variant
  • rs794728428PathogenicDeletionCardiac arrhythmia
  • rs794728431PathogenicDeletion
  • rs794728433PathogenicDuplication
  • rs794728434PathogenicDuplicationCardiac arrhythmia
  • rs794728438PathogenicDeletionLong QT syndrome 2
  • rs794728440PathogenicDeletionLong QT syndrome
  • rs794728443PathogenicDeletion
  • rs794728444PathogenicDeletion
  • rs794728445PathogenicDeletion
  • rs794728446PathogenicDeletionLong QT syndrome 2
  • rs794728457PathogenicDeletionCardiac arrhythmia
  • rs794728461PathogenicDuplication
  • rs794728463PathogenicDuplication
  • rs794728470PathogenicDuplicationLong QT syndrome|Cardiac arrhythmia
  • rs794728472PathogenicDeletionCardiac arrhythmia
  • rs794728475PathogenicDuplicationLong QT syndrome
  • rs794728478Pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728481Pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728483Pathogenicsingle nucleotide variant
  • rs794728485Pathogenicsingle nucleotide variant
  • rs794728486Pathogenicsingle nucleotide variant
  • rs794728488Pathogenicsingle nucleotide variantLong QT syndrome
  • rs794728497PathogenicDeletionCardiac arrhythmia
  • rs794728499PathogenicDeletionCardiac arrhythmia
  • rs794728500PathogenicDeletionCardiac arrhythmia
  • rs794728501PathogenicDeletion
  • rs794728507PathogenicDeletionCardiac arrhythmia
  • rs794728508PathogenicDeletionLong QT syndrome|Cardiac arrhythmia
  • rs863225288Pathogenicsingle nucleotide variantLong QT syndrome 2
  • rs864622309PathogenicDeletionLong QT syndrome|Cardiovascular phenotype
  • rs878853771Pathogenicsingle nucleotide variantLong QT syndrome
  • rs886039385Pathogenicsingle nucleotide variantLong QT syndrome
  • rs121912513Uncertain significancesingle nucleotide variantLong QT syndrome 2|Long QT syndrome 2/5, digenic|Congenital long QT syndrome
  • rs121912514Uncertain significancesingle nucleotide variantLong QT syndrome 1/2, digenic|Congenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
  • rs143072395Uncertain significancesingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
  • rs143167166Uncertain significancesingle nucleotide variantSUDDEN INFANT DEATH SYNDROME|Long QT syndrome|Cardiac arrhythmia
  • rs199472911Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
  • rs199472917Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
  • rs199473001Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Cardiac arrhythmia
  • rs201268831Uncertain significancesingle nucleotide variantLong QT syndrome 2|Long QT syndrome|Cardiac arrhythmia
  • rs201382073Uncertain significancesingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
  • rs377095107Uncertain significancesingle nucleotide variantLong QT syndrome
  • rs587777907Uncertain significancesingle nucleotide variantLong QT syndrome 2|Long QT syndrome
  • rs786205588Uncertain significancesingle nucleotide variantLong QT syndrome
  • rs794728384Uncertain significancesingle nucleotide variantLong QT syndrome
  • rs794728395Uncertain significancesingle nucleotide variant
  • rs794728396Uncertain significancesingle nucleotide variant
  • rs794728413Uncertain significancesingle nucleotide variant
  • rs794728418Uncertain significancesingle nucleotide variant
  • rs794728494Uncertain significancesingle nucleotide variant
  • rs199472828Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199472835Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199472854Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199472893Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199472928Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199472951Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199472958Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199473006Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199473039Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199473488Not classifiedsingle nucleotide variantCongenital long QT syndrome
  • rs199473529Not classifiedsingle nucleotide variantCongenital long QT syndrome

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.