Knowledge base for genomic medicine in Japanese
遺伝性出血性末梢血管拡張症 (オスラー病)
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001077401.2(ACVRL1):c.1450C>T (p.Arg484Trp)ACVRL1Pathogenic125231461552314615CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0010,UniProtKB (protein):P37023#VAR_026815
single nucleotide variantNM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp)ACVRL1Pathogenic125230822952308229GAcriteria provided, single submitterOMIM Allelic Variant:601284.0011,UniProtKB (protein):P37023#VAR_026788
single nucleotide variantNM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)ACVRL1Pathogenic125230926752309267GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0012,UniProtKB (protein):P37023#VAR_026798
single nucleotide variantNM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro)ACVRL1Pathogenic125231000352310003GCcriteria provided, single submitterOMIM Allelic Variant:601284.0015,UniProtKB (protein):P37023#VAR_026808
single nucleotide variantNM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)SMAD4Pathogenic184859191848591918CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:600993.0008,UniProtKB (protein):Q13485#VAR_019572,UniProtKB (variants):VAR_019572
single nucleotide variantNM_000118.3(ENG):c.360C>A (p.Tyr120Ter)ENGPathogenic9130591966130591966GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:131195.0009
single nucleotide variantNM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)SMAD4Pathogenic184857520948575209CTcriteria provided, single submitter-
short repeatNM_005359.6(SMAD4):c.426_427TC[2] (p.Ser144fs)SMAD4Pathogenic184857566648575667ATCAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)SMAD4Pathogenic184858122948581229CGcriteria provided, single submitter-
duplicationNM_005359.6(SMAD4):c.692dup (p.Ser232fs)SMAD4Pathogenic184858451348584514TTGcriteria provided, single submitter-