Knowledge base for genomic medicine in Japanese
遺伝性平滑筋腫症−腎細胞がん症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000143.4(FH):c.418del (p.Val140fs)FHPathogenic1241675404241675404ACAcriteria provided, single submitter-
DeletionNM_000143.4(FH):c.344del (p.Lys115fs)FHPathogenic1241676937241676937CTCcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.175G>T (p.Glu59Ter)FHPathogenic1241680574241680574CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000143.4(FH):c.152G>C (p.Arg51Pro)FHLikely pathogenic1241680597241680597CGcriteria provided, single submitter-
DeletionNM_000143.4(FH):c.120_130del (p.Ala41fs)FHPathogenic1241682893241682903ATTCGAGCCGCGAcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.127C>T (p.Arg43Ter)FHPathogenic1241682896241682896GAcriteria provided, single submitter-
DuplicationNM_000143.4(FH):c.5dup (p.Tyr2Ter)FHPathogenic1241683017241683018GGTcriteria provided, single submitter-
DeletionNC_000001.11:g.(?_241497818)_(241504255_?)delFHPathogenic1241661118241667555nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_241497818)_(241519732_?)delFHPathogenic1241661118241683032nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_241497818)_(241508795_?)delFHPathogenic1241661118241672095nanacriteria provided, single submitter-