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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
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    1. ClingenBaseline 08 Nov 2026
      A86

      Case#: Male, 47

      DiseaseAssertion: hypertrophic cardiomyopathy

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: HP:0025169, HP:0034307, HP:0001712,

      CaseHPOFreeText: Severe alterations in inter ventricular septum thickness and left ventricular posterior wall thickness

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: NA

      Variant: NM_001276345.2:c.423G>A

      ClinVar: NR

      CAID: CA422532259

      gnomAD: NR

      AdditionalInfo: IVST, average of 19.2 mm and LVPWT; average of 11.5 mm

      Gene:TNNT2 General CaseInfo HGNC:11949 DiseaseEntity:HCM HP:0025169 HP:0034307 HP:0001712 Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4867886/