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)
single nucleotide variantNM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter)BMPR1APathogenic108867897088678970CTcriteria provided, single submitterClinGen:CA377460001
DeletionNM_004329.3(BMPR1A):c.366_384del (p.Glu123fs)BMPR1APathogenic108865957988659597ACAATAGAATGTTGTCGGACAcriteria provided, single submitterClinGen:CA658797455
DeletionNM_004329.3(BMPR1A):c.419del (p.Pro140fs)BMPR1APathogenic108865963288659632GCGcriteria provided, single submitterClinGen:CA658797456
DuplicationNM_004329.3(BMPR1A):c.864dup (p.Leu289fs)BMPR1APathogenic108867707888677079TTAcriteria provided, single submitterClinGen:CA658797467
DuplicationNM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)BMPR1APathogenic/Likely pathogenic108863581488635815CCTcriteria provided, multiple submitters, no conflicts-
IndelNM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)BMPR1APathogenic108867904788679052AGCCCTTGTAcriteria provided, multiple submitters, no conflicts-
DeletionNM_004329.3(BMPR1A):c.-547_-268+1delBMPR1APathogenic108851639588516675CGGCGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGCcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.133_134del (p.Glu45fs)BMPR1APathogenic108864988388649884CAGCcriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter)BMPR1APathogenic108868142488681424GAcriteria provided, single submitter-
DeletionNC_000010.10:g.(?_88649809)_(89725239_?)delBMPR1APathogenic108864980989725239nanacriteria provided, single submitter-