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)
single nucleotide variantNM_000143.4(FH):c.521C>A (p.Pro174His)FHLikely pathogenic1241675301241675301GTcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.442C>T (p.Gln148Ter)FHPathogenic1241675380241675380GAcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.1435G>T (p.Gly479Ter)FHPathogenic1241661226241661226CAcriteria provided, single submitter-
DuplicationNM_000143.4(FH):c.1328_1331dup (p.Ile445fs)FHPathogenic1241663795241663796CCCTTTcriteria provided, single submitter-
DeletionNM_000143.4(FH):c.1165_1174del (p.Gly389fs)FHPathogenic1241665805241665814ACATGGTTCCCAcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.944T>C (p.Leu315Pro)FHLikely pathogenic1241667506241667506AGcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.844G>C (p.Gly282Arg)FHLikely pathogenic1241669363241669363CGcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.705T>G (p.His235Gln)FHLikely pathogenic1241671936241671936ACcriteria provided, single submitter-
IndelNM_000143.4(FH):c.564_587delinsG (p.Asn188fs)FHPathogenic1241672054241672077TGCATTGCTGTGGGAAAAGTATCACcriteria provided, single submitter-
single nucleotide variantNM_000143.4(FH):c.424C>T (p.Gln142Ter)FHPathogenic1241675398241675398GAcriteria provided, single submitter-