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)
DeletionNC_000010.11:g.(?_86755016)_(86757045_?)delBMPR1ALikely pathogenic108851477388516802nanacriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter)BMPR1APathogenic108864989088649890GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.3(BMPR1A):c.231-1G>CBMPR1ALikely pathogenic108865188388651883GCcriteria provided, single submitter-
DuplicationNM_004329.3(BMPR1A):c.847dup (p.Met283fs)BMPR1APathogenic108867706088677061TTAcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.869-2_871delBMPR1ALikely pathogenic108867892788678931CAGGTTCcriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter)BMPR1APathogenic108868316488683164CAcriteria provided, multiple submitters, no conflicts-
DeletionNC_000010.11:g.(?_86912230)_(86917336_?)delBMPR1APathogenic108867198788677093nanacriteria provided, single submitter-
DuplicationNM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)BMPR1APathogenic108867203188672032TTAcriteria provided, multiple submitters, no conflicts-
DeletionNM_004329.3(BMPR1A):c.674del (p.Leu225fs)BMPR1APathogenic108867213988672139ATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)BMPR1APathogenic/Likely pathogenic108864992788649927TAcriteria provided, multiple submitters, no conflicts-