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    Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy
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    1. ClingenBaseline 24 Oct 2026

      Supplementary Data Table S3

      Case: 179

      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_000257.3:c.2185G>C (p.Ala729Pro)

      CAID: CA389048952 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389048952

      gnomAD: Not in gnomAD

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion PreviousTesting:Additional Mutation:Germline SupplementalData CAID:CA389048952 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/