Knowledge base for genomic medicine in Japanese
リンチ症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000179.3(MSH6):c.651dup (p.Lys218Ter)MSH6Pathogenic24802577248025773AATreviewed by expert panelClinGen:CA016144,OMIM:600678.0007
DuplicationNM_000179.3(MSH6):c.3633dup (p.Val1212fs)MSH6Pathogenic24803283148032832CCTcriteria provided, multiple submitters, no conflictsClinGen:CA340847,OMIM:600678.0015
single nucleotide variantNM_000535.7(PMS2):c.400C>T (p.Arg134Ter)PMS2Pathogenic760422216042221GAreviewed by expert panelClinGen:CA012083,OMIM:600259.0001
DeletionNM_000535.7(PMS2):c.1221del (p.Thr408fs)PMS2Pathogenic760271756027175TCTreviewed by expert panelClinGen:CA009346,OMIM:600259.0002
single nucleotide variantNM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)PMS2Pathogenic760172606017260GAreviewed by expert panelClinGen:CA011441,OMIM:600259.0004
DeletionNM_000535.7(PMS2):c.1021del (p.Arg341fs)PMS2Pathogenic760295546029554CTCreviewed by expert panelClinGen:CA009113,PMS2 @ LOVD:PMS2_00045,OMIM:600259.0007
single nucleotide variantNM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)PMS2Pathogenic760265146026514GAreviewed by expert panelClinGen:CA010399,OMIM:600259.0009
IndelNM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)PMS2Pathogenic/Likely pathogenic760266646026665GCACTcriteria provided, multiple submitters, no conflictsClinGen:CA16040598,OMIM:600259.0011
single nucleotide variantNM_000535.7(PMS2):c.137G>T (p.Ser46Ile)PMS2Likely pathogenic760455496045549CAreviewed by expert panelClinGen:CA009597,UniProtKB:P54278#VAR_066838,OMIM:600259.0012
single nucleotide variantNM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)TGFBR2Pathogenic33073296330732963GCcriteria provided, single submitterOMIM:190182.0003,ClinGen:CA020721,UniProtKB:P37173#VAR_015816