2 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Double missense mutations in cardiac myosin‐binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy
    2
    2. ClingenBaseline 09 Nov 2026
      50‐year‐old woman

      Case1: 50‐year‐old woman

      DiseaseAssertion: Ankles swelling and shortness of breath.

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs:

      CaseHPOFreeText: dilated cardiomyopathy with end‐diastolic diameter of the left ventricle (LV) of 62 mm, severely depressed left ventricle ejection fraction (LVEF), 20%, mild hypertrophic septum (13.5 mm), trabecular aspect of lateral and inferior LV wall, thrombus in the apex, and severe tricuspid regurgitation with inferior vena cava reflow

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: next‐generation sequencing

      FunctionalAnalysis: NR

      Variant: NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln), NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)

      ClinVar: 8617, 31791

      CAID: CA012326, CA143763

      gnomAD: 11-47359085-C-T, 10-69959174-C-T

      AdditionalInfo: NR

      Gene:MYBPC3 HGNC:7551 Gene:MYPN HGNC:23246 InheritancePattern:NoInheritanceAssertion Variant:Missense Zygosity:Heterozygous ClinVarID:8617 ClinVarID:31791 CAID:CA012326 CAID:CA143763 MultipleGeneVariants inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC7358828/