Knowledge base for genomic medicine in Japanese
遺伝性混合ポリポーシス症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNC_000015.9:g.(?_32971947)_(33004759_?)dupGREM1Pathogenic153297194733004759nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_86876009)_(86923729_?)delBMPR1APathogenic108863576688683486nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_86838866)_(87965482_?)delBMPR1APathogenic108859862389725239nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_86755016)_(86923729_?)delBMPR1APathogenic108851477388683486nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_86755016)_(86756919_?)delBMPR1ALikely pathogenic108851477388516676nanacriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.1342+2T>GBMPR1ALikely pathogenic108868145488681454TGcriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.868+1G>ABMPR1ALikely pathogenic108867708488677084GAcriteria provided, multiple submitters, no conflicts-
DeletionNC_000010.11:g.(?_86876009)_(86876095_?)delBMPR1APathogenic108863576688635852nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_86755016)_(87965482_?)delBMPR1APathogenic108851477389725239nanacriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.1267del (p.Gln423fs)BMPR1APathogenic108868137688681376TCTcriteria provided, single submitter-