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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel Phenotype–Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing
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    1. ClingenBaseline 09 Nov 2026
      a man aged 45 years

      Case1: 45 year old man, Chinese Han descent

      DiseaseAssertion: Symptoms of congestive heart failure for 10 years and then developed ascites

      FamilyInfo: No obvious family history.

      ParentalTesting: NR

      CasePresentingHPOs: HP:0031295, HP:0030718, HP:0001639

      CaseHPOFreeText: typical RCM phenotype with biatrial enlargement, normal LV volume and wall thickness, mildly depressed LV ejection fraction (52%), and significantly impaired LV diastolic function

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: high-throughput NGS

      FunctionalAnalysis: NR

      Variant: NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)

      ClinVar: 177902

      CAID: CA009667

      gnomAD: 11-47367848-C-T

      AdditionalInfo: NR

      Gene:MYBPC3 HGNC:7551 InheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Variant:Missense Zygosity:NoZygosityAssertion ClinVarID:177902 CAID:CA009667 inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4608072/