Knowledge base for genomic medicine in Japanese
若年性ポリポーシス症候群
腫瘍性疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
copy number lossGRCh38/hg38 10q23.2(chr10:86787518-86892381)x1BMPR1APathogenic108854727588652138nanacriteria provided, single submitterdbVar:nssv577305,dbVar:nsv531275
single nucleotide variantNM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)SMAD4Pathogenic/Likely pathogenic184860466448604664CTcriteria provided, multiple submitters, no conflicts-
deletionNM_004329.2(BMPR1A):c.369del (p.Glu123fs)BMPR1APathogenic108865958588659585GAGcriteria provided, single submitter-
deletionNM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs)SMAD4Pathogenic184860304348603067AGCAGCAGGCGGCTACTGCACAAGCTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)SMAD4Pathogenic184860304448603044CTcriteria provided, single submitter-
single nucleotide variantNM_004329.2(BMPR1A):c.1474-2A>GBMPR1ALikely pathogenic108868334988683349AGcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.1308+1G>TSMAD4Likely pathogenic184859355848593558GTcriteria provided, single submitter-
deletionNM_004329.2(BMPR1A):c.826_827del (p.Glu276fs)BMPR1APathogenic108867704088677041CAGCcriteria provided, multiple submitters, no conflicts-
deletionNM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs)SMAD4Pathogenic184859349148593494TAGACTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.2(BMPR1A):c.371G>A (p.Cys124Tyr)BMPR1ALikely pathogenic108865958888659588GAcriteria provided, single submitter-