2 Matching Annotations
  1. Last 7 days
  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 21 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

      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) 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

      (2) TMPO Variant

      Variant: NM_001032283.2(TMPO):c.859G>C (p.Ala287Pro)

      ClinVar: 43693 https://www.ncbi.nlm.nih.gov/clinvar/variation/43693/

      gnomAD: 0.04732, https://gnomad.broadinstitute.org/variant/12-98938295-G-C

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:14091 ClinVarID:42977 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 256

      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.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) PLB1 Variant

      Variant: NM_153021.4:c.275A>G (p.Lys92Arg)

      CAID: CA1586810 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_153021.5%3Ac.275A%3EG

      gnomAD: 0.03209, https://gnomad.broadinstitute.org/variant/2-28748165-A-G

      (2) RBM20 Variant

      Variant: NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)

      ClinVar: 43995 https://www.ncbi.nlm.nih.gov/clinvar/variation/43995/

      gnomAD: 0.02090, https://gnomad.broadinstitute.org/variant/10-112581039-G-A

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:42977 inferred_gene_hgnc:30041 inferred_gene_source:CAID Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/