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    Intrauterine Treatment of a Fetus with Familial Hypertrophic Cardiomyopathy Secondary to MYH7 Mutation
    1
    1. ClingenBaseline 24 Oct 2026
      father

      Case#: father, diagnosis as child,

      DiseaseAssertion: HCM

      FamilyInfo: daughter and 2 sons also diagnosed, G6P2 30 yr mother had normal pregnancy

      CasePresentingHPOs: N/A

      CaseHPOFreeText: heart transplantation at 33 yr

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: N/A

      Variant: NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln)

      ClinVar: 164351 https://www.ncbi.nlm.nih.gov/clinvar/variation/164351/

      CAID: N/A

      gnomAD: N/A

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:AutosomalDominant Mutation:Germline FamilyInfo ClinVarID:164351 PreviousTesting:None inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4655206/