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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
    1
    1. ClingenBaseline 09 Nov 2026
      EO34 yes TNNT2 9 c.281G>C Arg94Thr MISSENSE

      Case#: E034

      DiseaseAssertion: Early onset hypertrophic cardiomyopathy

      FamilyInfo: Familiarity case reported as "yes"

      ParentalTesting: Not reported

      CasePresentingHPOs: HP:0001639

      CaseHPOFreeText: Not reported

      CaseNotHPOs: Not reported

      CaseNotHPOFreeText: Not reported

      CasePreviousTesting: Not reported

      Genotyping Method: Next Generation Sequencing

      FunctionalAnalysis: Not reported

      Variant: c.281G>C (Arg94Thr)

      ClinVar: Not found

      CAID: CA004216

      gnomAD: Not found

      AdditionalInfo: Clinical Significance: Known/uncertain significance. Allele coverage 196

      CAID:CA004216 Gene:TNNT2 Variant:Missense InheritancePattern:AutosomalDominant HGNCID:11949 DiseaseEntity:HCM inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5000637/