Knowledge base for genomic medicine in Japanese
若年性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.1511G>A (p.Trp504Ter)BMPR1APathogenic108868338888683388GAcriteria provided, multiple submitters, no conflictsClinGen:CA10582751
single nucleotide variantNM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)BMPR1APathogenic/Likely pathogenic108868335788683357CTcriteria provided, multiple submitters, no conflictsClinGen:CA186232
single nucleotide variantNM_004329.3(BMPR1A):c.1474-2A>GBMPR1ALikely pathogenic108868334988683349AGcriteria provided, single submitterClinGen:CA164082
single nucleotide variantNM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter)BMPR1APathogenic108868325088683250GAcriteria provided, single submitterClinGen:CA377463185
single nucleotide variantNM_004329.3(BMPR1A):c.1401C>A (p.Tyr467Ter)BMPR1APathogenic108868319188683191CAcriteria provided, single submitterClinGen:CA377462910
single nucleotide variantNM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter)BMPR1APathogenic108868316488683164CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter)BMPR1APathogenic108868315088683150CTcriteria provided, multiple submitters, no conflictsClinGen:CA377462694
single nucleotide variantNM_004329.3(BMPR1A):c.1342+2T>GBMPR1ALikely pathogenic108868145488681454TGcriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter)BMPR1APathogenic108868142488681424GAcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.1267del (p.Gln423fs)BMPR1APathogenic108868137688681376TCTcriteria provided, single submitter-