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Gene entry

TNNT2

troponin T2, cardiac type

Chromosome
1
Cytoband
1q32.1
Variants (rsID)
74

TNNT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q32.1). Its official name is “troponin T2, cardiac type”. The reference table lists 74 variants (rsID) for this gene.

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Clinically classified variants

64 reference-table entries with clinical significance.

  • rs3729547Benignsingle nucleotide variantCardiovascular phenotype|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Familial restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D
  • rs3730238Benignsingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Familial restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs483352833Benignsingle nucleotide variantDilated cardiomyopathy 1DD|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Cardiomyopathy
  • rs111692981Conflicting interpretationssingle nucleotide variantCardiovascular phenotype
  • rs113471285Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs121964857Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 2|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Costello syndrome|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiovascular phenotype|Dilated cardiomyopathy 1D|Cardiomyopathy|Hypertrophic cardiomyopathy
  • rs193922620Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Cardiomyopathy
  • rs201753429Conflicting interpretationssingle nucleotide variantSudden cardiac death|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
  • rs367785431Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 1|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype|Hypertrophic cardiomyopathy
  • rs368658464Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiomyopathy|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2
  • rs374443596Conflicting interpretationssingle nucleotide variantDilated Cardiomyopathy, Dominant|Cardiomyopathy, familial restrictive, 3|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy 2|Cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3
  • rs376923877Conflicting interpretationssingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs397516450Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy|Dilated cardiomyopathy 1D
  • rs397516459Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3
  • rs397516480Conflicting interpretationsDeletionCardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs45466197Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy|TNNT2-Related Cardiomyopathy
  • rs45520032Conflicting interpretationssingle nucleotide variantCardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy|Dilated cardiomyopathy 1D
  • rs45586240Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Primary familial dilated cardiomyopathy
  • rs727504244Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs727504245Conflicting interpretationssingle nucleotide variantCardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2
  • rs727504488Conflicting interpretationssingle nucleotide variantPrimary familial dilated cardiomyopathy
  • rs730881092Conflicting interpretationssingle nucleotide variantFamilial restrictive cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy|Cardiomyopathy|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D
  • rs730881101Conflicting interpretationssingle nucleotide variantCardiomyopathy|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2
  • rs730881112Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs863225119Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 2|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Cardiomyopathy
  • rs869312881Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1D|Cardiomyopathy|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2
  • rs397516454Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs397516461Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
  • rs727504277Likely pathogenicDeletionHypertrophic cardiomyopathy
  • rs730881096Likely pathogenicsingle nucleotide variant
  • rs730881104Likely pathogenicsingle nucleotide variant
  • rs730881109Likely pathogenicsingle nucleotide variant
  • rs863225120Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 2
  • rs111377893Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiomyopathy
  • rs121964856Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 2|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2
  • rs121964858Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy
  • rs121964860Pathogenicsingle nucleotide variantDilated cardiomyopathy 1D
  • rs397516455Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype
  • rs397516464Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3
  • rs397516470PathogenicMicrosatelliteHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2
  • rs397516471Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D
  • rs45578238PathogenicMicrosatelliteDilated cardiomyopathy 1D|Primary dilated cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy|Hypertrophic cardiomyopathy 2
  • rs727504255Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
  • rs730881116Pathogenicsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs730881119PathogenicDuplicationCardiomyopathy
  • rs74315379Pathogenicsingle nucleotide variantDilated cardiomyopathy 1D|Primary dilated cardiomyopathy|Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Familial isolated dilated cardiomyopathy|Cardiomyopathy
  • rs74315380Pathogenicsingle nucleotide variantDilated cardiomyopathy 1D|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Cardiovascular phenotype
  • rs121964861Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs141805127Uncertain significancesingle nucleotide variantCardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiovascular phenotype|Hypertrophic cardiomyopathy 2|Cardiomyopathy
  • rs150008205Uncertain significancesingle nucleotide variantCardiomyopathy|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D
  • rs397516447Uncertain significancesingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3
  • rs397516452Uncertain significancesingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
  • rs397516469Uncertain significancesingle nucleotide variant
  • rs397516484Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
  • rs4523540Uncertain significancesingle nucleotide variant
  • rs45501500Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1D|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Cardiomyopathy
  • rs483352835Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1DD|Hypertrophic cardiomyopathy 2|Cardiomyopathy, familial restrictive, 3|Dilated cardiomyopathy 1D|Cardiomyopathy
  • rs727503512Uncertain significancesingle nucleotide variantPrimary dilated cardiomyopathy
  • rs727505233Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs730881100Uncertain significancesingle nucleotide variant
  • rs730881102Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs730881113Uncertain significancesingle nucleotide variantCardiomyopathy|Cardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D
  • rs730881114Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|Cardiomyopathy, familial restrictive, 3
  • rs730881125Uncertain significancesingle nucleotide variantCardiomyopathy, familial restrictive, 3|Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|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.