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_000018.10:g.(?_51076628)_(51078477_?)delSMAD4Pathogenic184860299848604847nanacriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)SMAD4Pathogenic184858128148581281CGcriteria provided, multiple submitters, no conflicts-
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.1523G>A (p.Gly508Asp)SMAD4Likely pathogenic184860470148604701GAcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1308+2T>CSMAD4Pathogenic184859355948593559TCcriteria provided, single submitter-
DeletionNM_005359.6(SMAD4):c.955+1delSMAD4Likely pathogenic184858628648586286TGTcriteria provided, single submitterClinGen:CA658799061
single nucleotide variantNM_005359.6(SMAD4):c.454+2T>CSMAD4Likely pathogenic184857569648575696TCcriteria provided, single submitterClinGen:CA402459644