Knowledge base for genomic medicine in Japanese
若年性ポリポーシス症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_005359.6(SMAD4):c.69del (p.Met24fs)SMAD4Pathogenic184857348548573485TGTcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.247C>T (p.Gln83Ter)SMAD4Pathogenic184857366348573663CTcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter)SMAD4Pathogenic184857520548575205CAcriteria provided, single submitter-
DeletionNM_005359.6(SMAD4):c.443del (p.Leu148fs)SMAD4Pathogenic184857568348575683CTCcriteria provided, single submitter-
DuplicationNM_005359.6(SMAD4):c.1067dup (p.Ser357fs)SMAD4Pathogenic184859190148591902AACcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg)SMAD4Likely pathogenic184859339748593397TGcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)SMAD4Pathogenic184859344348593443GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter)SMAD4Pathogenic184860306248603062CTcriteria provided, single submitter-
DeletionNC_000010.11:g.(?_86755016)_(87965482_?)delBMPR1APathogenic108851477389725239nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_86876009)_(86876095_?)delBMPR1APathogenic108863576688635852nanacriteria provided, single submitter-