1 Matching Annotations
  1. Last 7 days
    1. 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