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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy
    2
    1. ClingenBaseline 23 Oct 2026

      Supplementary Data Table S3

      Case: 344

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.2348G>A (p.Arg783His)

      ClinVar: 180437 https://www.ncbi.nlm.nih.gov/clinvar/variation/180437/

      gnomAD: 0.00004005, https://gnomad.broadinstitute.org/variant/14-23894566-C-T

      MultipleGeneVariants:

      (1) ABCC9 Variant

      Variant: NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile)

      ClinVar: 35627 https://www.ncbi.nlm.nih.gov/clinvar/variation/35627/

      gnomAD: 0.01123, https://gnomad.broadinstitute.org/variant/12-22017410-C-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:180437 inferred_gene_hgnc:795 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    2. ClingenBaseline 23 Oct 2026

      Supplementary Data Table S3

      Case: 278

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.2348G>A (p.Arg783His)

      ClinVar: 180437 https://www.ncbi.nlm.nih.gov/clinvar/variation/180437/

      gnomAD: 0.00004005, https://gnomad.broadinstitute.org/variant/14-23894566-C-T

      MultipleGeneVariants:

      (1) SDHA Variant

      Variant: NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)

      ClinVar: 224949 https://www.ncbi.nlm.nih.gov/clinvar/variation/224949/

      gnomAD: 0.5249, https://gnomad.broadinstitute.org/variant/5-254599-A-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:180437 inferred_gene_hgnc:795 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/