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)
DeletionNM_004329.3(BMPR1A):c.39del (p.Tyr14fs)BMPR1APathogenic/Likely pathogenic108863581388635813GCGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter)BMPR1APathogenic108864994088649940CAcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.1065del (p.Lys355fs)BMPR1APathogenic108867912588679125AGAcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.-1_2del (p.Met1del)BMPR1ALikely pathogenic108863577588635777CAATCcriteria provided, single submitter-
InsertionNM_004329.3(BMPR1A):c.110_111insCCATGGCACTGGGAT (p.Ser37_Asp38insHisGlyThrGlyIle)BMPR1APathogenic108864986188649862CCCCATGGCACTGGGATcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.150del (p.Ala51fs)BMPR1APathogenic108864990188649901TATcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.244del (p.Cys82fs)BMPR1APathogenic108865189688651896ATAcriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.370T>A (p.Cys124Ser)BMPR1ALikely pathogenic108865958788659587TAcriteria provided, single submitter-
single nucleotide variantNM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter)BMPR1APathogenic108867702888677028GAcriteria provided, single submitter-
DeletionNM_004329.3(BMPR1A):c.1267del (p.Gln423fs)BMPR1APathogenic108868137688681376TCTcriteria provided, single submitter-