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)
DeletionNC_000001.11:g.(?_241505993)_(241506178_?)delFHPathogenic1241669293241669478nanacriteria provided, single submitter-
DeletionNM_000143.4(FH):c.1205del (p.His402fs)FHPathogenic1241665774241665774ATAcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.556-2A>GFHLikely pathogenic1241672087241672087TCcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.554A>C (p.Gln185Pro)FHLikely pathogenic1241675268241675268TGcriteria provided, single submitter-
DeletionNM_000143.4(FH):c.353del (p.Asn118fs)FHPathogenic1241676928241676928ATAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000143.4(FH):c.301_319del (p.Arg101fs)FHPathogenic1241676962241676980TTTACTTCAGCGGCCGCTCGTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000143.4(FH):c.185_188dup (p.Asn64fs)FHPathogenic1241680560241680561TTGGCAcriteria provided, single submitter-
DeletionNM_000143.4(FH):c.1138del (p.Ala379_Met380insTer)FHPathogenic1241665841241665841ATAcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.201T>G (p.Tyr67Ter)FHPathogenic1241680548241680548ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000143.4(FH):c.1351G>T (p.Glu451Ter)FHPathogenic1241663776241663776CAcriteria provided, single submitter-