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_005359.6(SMAD4):c.787+1G>ASMAD4Likely pathogenic184858461548584615GAcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1140-2A>CSMAD4Likely pathogenic184859338748593387ACcriteria provided, single submitter-
deletionNC_000018.10:g.(?_51076628)_(51078477_?)delSMAD4Pathogenic184860299848604847nanacriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)SMAD4Pathogenic184858128148581281CGcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter)SMAD4Pathogenic184860475048604750GAcriteria provided, single submitter-
deletionNM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs)SMAD4Pathogenic184860304048603064TGCAGCAGCAGGCGGCTACTGCACAATcriteria provided, single submitter-
duplicationNM_005359.6(SMAD4):c.939dup (p.Ile314fs)SMAD4Pathogenic184858626748586268TTCcriteria provided, multiple submitters, no conflicts-
deletionNC_000018.10:g.(?_51030213)_(51078477_?)delSMAD4Pathogenic184855658348604847nanacriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)SMAD4Likely pathogenic184857509648575096GTcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)SMAD4Likely pathogenic184860470148604701GAcriteria provided, single submitter-