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)
deletionNC_000009.12:g.(?_127815012)_(127854773_?)delENGPathogenic9130577291130617052nanacriteria provided, single submitter-
deletionNC_000009.12:g.(?_127824284)_(127854482_?)delENGPathogenic9130586563130616761nanacriteria provided, single submitter-
deletionNC_000009.12:g.(?_127854269)_(127854482_?)delENGPathogenic9130616548130616761nanacriteria provided, single submitter-
single nucleotide variantNM_000118.3(ENG):c.-127C>TENGPathogenic9130616761130616761GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000118.3(ENG):c.1A>C (p.Met1Leu)ENGPathogenic9130616634130616634TGcriteria provided, single submitter-
single nucleotide variantNM_000118.3(ENG):c.1A>G (p.Met1Val)ENGPathogenic/Likely pathogenic9130616634130616634TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000118.3(ENG):c.2T>G (p.Met1Arg)ENGPathogenic9130616633130616633ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000118.3(ENG):c.23T>C (p.Leu8Pro)ENGLikely pathogenic9130616612130616612AGcriteria provided, single submitter-
deletionNM_000118.3(ENG):c.41_51del (p.Leu14fs)ENGPathogenic9130616584130616594TGCAGCTGGCCATcriteria provided, single submitter-
single nucleotide variantNM_000118.3(ENG):c.41T>C (p.Leu14Pro)ENGPathogenic9130616594130616594AGcriteria provided, single submitter-