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.737del (p.Gln246fs)FHPathogenic1241671904241671904CTCcriteria provided, multiple submitters, no conflictsClinGen:CA233991
DeletionNM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)FHPathogenic/Likely pathogenic1241669401241669421GATTCTTGGCATGGCAGCTTTTGcriteria provided, multiple submitters, no conflictsClinGen:CA192112
single nucleotide variantNM_000143.4(FH):c.700A>G (p.Thr234Ala)FHPathogenic/Likely pathogenic1241671941241671941TCcriteria provided, multiple submitters, no conflictsClinGen:CA189288
single nucleotide variantNM_000143.4(FH):c.556-1G>CFHPathogenic1241672086241672086CGcriteria provided, single submitterClinGen:CA275293
DeletionNM_000143.4(FH):c.912_918del (p.Phe305fs)FHPathogenic1241667532241667538TGACAAAATcriteria provided, multiple submitters, no conflictsClinGen:CA275378
single nucleotide variantNM_000143.4(FH):c.1210G>T (p.Glu404Ter)FHPathogenic1241665769241665769CAcriteria provided, single submitterClinGen:CA347361
single nucleotide variantNM_000143.4(FH):c.905-1G>AFHPathogenic/Likely pathogenic1241667546241667546CTcriteria provided, multiple submitters, no conflictsClinGen:CA347392
DuplicationNM_000143.4(FH):c.1430_1437dup (p.Ser480fs)FHPathogenic1241661223241661224AATCCATTTTcriteria provided, multiple submitters, no conflictsClinGen:CA323758
DuplicationNM_000143.4(FH):c.1400dup (p.Ala468fs)FHPathogenic1241661260241661261CCTcriteria provided, multiple submitters, no conflictsClinGen:CA324743
single nucleotide variantNM_000143.4(FH):c.1394A>G (p.Tyr465Cys)FHPathogenic/Likely pathogenic1241661267241661267TCcriteria provided, multiple submitters, no conflictsClinGen:CA321656