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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy
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    1. ClingenBaseline 02 Nov 2026
      the proband

      Case#: Japanese female

      DiseaseAssertion: Mild cardiac hypertrophy and asymmetric septal hypertrophy with myocardial hypertrophy increasing.

      FamilyInfo: mother and grandmother showed phenotype. Probands mother has the Arg92Trp mutation of TNNT2.

      ParentalTesting:not reported

      CasePresentingHPOs: HP:0001670

      CaseHPOFreeText: not reported

      CaseNotHPOs:not reported

      CaseNotHPOFreeText:not reported

      CasePreviousTesting: DNA analysis

      Genotyping Method: Patients with familial HCM

      FunctionalAnalysis:not reported

      Variant:NM_001276345.2:c.107A>T

      ClinVar:not reported

      CAID:CA344207376

      gnomAD:not reported

      AdditionalInfo: pedigree and phenotype associated with Family C.

      CAID:CA344207376 CaseInfo Gene:TNNT2 HGNC:11949 Variant:Missense Zygosity:NoZygosityAssertion DiseaseEntity:HCM HP:0001670 FamilyInfo InheritancePattern:AutosomalDominant inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3830204/