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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Original article: Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
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    1. ClingenBaseline 22 Oct 2026
      index case

      Case1: 42 year old male

      DiseaseAssertion:DCM and LVNC

      FamilyInfo: Same mutation in proband found in father, sister, and daughter

      CasePreviousTesting: Sanger sequencing of coding exons and flanking intronic regions of the main sarcomeric genes, including MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC, MYL2, MYL3 and TNNC.

      GenotypingMethod: NGS, Sanger sequencing

      Variant: NM_000257.4:c.2146G>A

      ClinVar: 14105

      CAID: CA011770

      gnomAD: not found

      DiseaseEntity:DCM DiseaseEntity:LVNC CaseInfo CAID:CA011770 ClinVarID:14105 PreviousTesting:Full FamilyInfo InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4484257/