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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: 145

      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.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      MultipleGeneVariants:

      (1) DSP Variant

      Variant: NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)

      ClinVar: 180324 https://www.ncbi.nlm.nih.gov/clinvar/variation/180324/

      gnomAD: 0.00007743, https://gnomad.broadinstitute.org/variant/6-7575660-G-A

      (2) DSP Variant

      Variant: NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)

      ClinVar: 44929 https://www.ncbi.nlm.nih.gov/clinvar/variation/44929/

      gnomAD: 0.02491, https://gnomad.broadinstitute.org/variant/6-7582993-A-T

      (3) SCN5A Variant

      Variant: NM_000335.4:c.496G>A (p.Ala166Thr)

      CAID: CA064027 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA064027

      gnomAD: 0.001120, https://gnomad.broadinstitute.org/variant/3-38662449-C-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 inferred_gene_hgnc:10593 inferred_gene_source:CAID Cardiomyopathy Annotation
    2. ClingenBaseline 22 Oct 2026

      Supplementary Data Table S3

      Case: 131

      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

      Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.4(MYH7):c.3853+7C>T

      ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

      gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

      MultipleGeneVariants:

      (1) GLA Variant

      Variant: NM_000169.2(GLA):c.427G>A (p.Ala143Thr)

      ClinVar: 10748 https://www.ncbi.nlm.nih.gov/clinvar/variation/10748/

      gnomAD: 0.0009486, https://gnomad.broadinstitute.org/variant/X-100656740-C-T

      (2) SCN5A Variant

      Variant: NM_001099404.1:c.3440C>A (p.Thr1147Asn)

      ClinVar: CA061831 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA061831

      gnomAD: 0.0001446, https://gnomad.broadinstitute.org/variant/3-38618223-G-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:10593 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/