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_000020.2(ACVRL1):c.1321G>A (p.Val441Met)ACVRL1Pathogenic/Likely pathogenic125231284352312843GAcriteria provided, multiple submitters, no conflicts-
short repeatNM_005359.5(SMAD4):c.1549_1550delAG (p.Ser517Hisfs)SMAD4Pathogenic/Likely pathogenic184860472548604726CAGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005359.6(SMAD4):c.1308+1G>ASMAD4Pathogenic/Likely pathogenic184859355848593558GAcriteria provided, multiple submitters, no conflicts-
duplicationNM_005359.6(SMAD4):c.1271dup (p.Asp424fs)SMAD4Pathogenic/Likely pathogenic184859351948593520GGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000118.3(ENG):c.220-1G>AENGPathogenic/Likely pathogenic9130592107130592107CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.2(ACVRL1):c.698C>T (p.Ser233Leu)ACVRL1Pathogenic/Likely pathogenic125230829552308295CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys)ACVRL1Pathogenic/Likely pathogenic125230990652309906GAcriteria provided, multiple submitters, no conflicts-
deletionNM_000118.3(ENG):c.1195_1196del (p.Arg399fs)ENGPathogenic/Likely pathogenic9130582255130582256CCTCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp)ACVRL1Pathogenic/Likely pathogenic125230982652309826CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter)ACVRL1Pathogenic/Likely pathogenic125231285852312858CTcriteria provided, multiple submitters, no conflicts-