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    Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy
    1
    1. ClingenBaseline 24 Oct 2026
      Phenotypes of MYH7 mutations

      Variant1: NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)

      ClinVar: 264607 https://www.ncbi.nlm.nih.gov/clinvar/variation/264607/

      gnomAD: 0.00001759, https://gnomad.broadinstitute.org/variant/14-23897049-C-T

      Variant2: NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)

      ClinVar: 177763 https://www.ncbi.nlm.nih.gov/clinvar/variation/177763/

      gnomAD: Not in gnomAD

      Variant3: NM_000257.3:c.2713T>C (p.Cys905Arg)

      CAID: CA389047302 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.2713T%3EC

      gnomAD: Not in gnomAD

      Variant4: NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)

      ClinVar: 264608 https://www.ncbi.nlm.nih.gov/clinvar/variation/264608/

      gnomAD: Not in gnomAD

      Variant5: NM_000257.3:c.415G>T (p.Val139Leu)

      CAID: CA389052864 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.415G%3ET

      gnomAD: Not in gnomAD

      Variant6: NM_000257.4(MYH7):c.495G>A (p.Met165Ile)

      ClinVar: 524948 https://www.ncbi.nlm.nih.gov/clinvar/variation/524948/

      gnomAD: Not in gnomAD

      Variant7: NM_000257.3:c.547G>A (p.Gly183Arg)

      CAID: CA389052574 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.547G%3EA

      gnomAD: Not in gnomAD

      Variant8: NM_000257.3:c.5754C>G (p.Asn1918Lys)

      CAID: CA389034544 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.5754C%3EG

      gnomAD: Not in gnomAD

      Variant9: NM_000257.3:c.5773C>G (p.Arg1925Gly)

      CAID: CA257807342 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.5773C%3EG

      gnomAD: Not in gnomAD

      Variant10: NM_000257.4(MYH7):c.689T>C (p.Phe230Ser)

      ClinVar: 263543 https://www.ncbi.nlm.nih.gov/clinvar/variation/263543/

      gnomAD: Not in gnomAD

      Variant11: NM_000257.3:c.715_717del (p.Asp239del)

      CAID: CA913184869 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.715_717del

      gnomAD: Not in gnomAD

      Variant12: NM_000257.4(MYH7):c.732+1G>A

      ClinVar: 14127 https://www.ncbi.nlm.nih.gov/clinvar/variation/14127/

      gnomAD: 0.00005437, https://gnomad.broadinstitute.org/variant/14-23900793-C-T

      Variant13: NM_000257.3:c.798T>A (p.Tyr266Ter)

      CAID: CA389052023 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.798T%3EA

      gnomAD: Not in gnomAD

      Variant14: NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)

      ClinVar: 66081 https://www.ncbi.nlm.nih.gov/clinvar/variation/66081/

      gnomAD: Not in gnomAD

      Variant15: NM_000257.3:c.902T>A (p.Leu301Gln)

      CAID: CA389051788 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000257.3%3Ac.902T%3EA

      gnomAD: Not in gnomAD

      VariantEvidence Variant SupplementalData ClinVarID:264607 ClinVarID:177763 CAID:CA389047302 ClinVarID:264608 CAID:CA389052864 ClinVarID:524948 CAID:CA389052574 CAID:CA389034544 CAID:CA257807342 ClinVarID:263543 CAID:CA913184869 ClinVarID:14127 CAID:CA389052023 ClinVarID:66081 CAID:CA389051788 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S0735109719304978
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    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
    1
    1. ClingenBaseline 22 Oct 2026

      Supplementary Data: Online Table 1a

      Case:

      CaseHPOFreeText: heart transplant

      CasePreviousTesting: Full sarcomere testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), Additional testing (ABCC9, ACTN2, ANKRD1, BAG3, CALR3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA, MYH6, MYPN, MYOZ1, MYOZ2, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TNNC1, TTN, VCL and LDB3)

      CaseGenotypingMethod: DNA isolated from peripheral blood, targeted enrichment, next-gen sequencing with panel of 46 genes

      Variant: NM_000257.3(MYH7):c.495G>A (p.Met165Ile)

      ClinVar: 524948, https://www.ncbi.nlm.nih.gov/clinvar/variation/524948/

      gnomAD: n/a

      Individual CaseInfo LVNC AutosomalDominant ClinVarID:524948 FullPreviousTesting AdditionalPreviousTesting SupplementalData inferred_gene_hgnc:27424 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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