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.262G>T (p.Glu88Ter)BMPR1APathogenic108865191588651915GTcriteria provided, multiple submitters, no conflictsClinGen:CA298508
single nucleotide variantNM_004329.3(BMPR1A):c.1A>G (p.Met1Val)BMPR1APathogenic/Likely pathogenic108863577688635776AGcriteria provided, multiple submitters, no conflictsClinGen:CA195612
DeletionNM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)BMPR1APathogenic108864992288649922CTCcriteria provided, multiple submitters, no conflictsClinGen:CA186193
DuplicationNM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)BMPR1APathogenic108864996588649966AATcriteria provided, multiple submitters, no conflictsClinGen:CA189133
DeletionNM_004329.3(BMPR1A):c.420del (p.Val141fs)BMPR1APathogenic108865963788659637CTCcriteria provided, single submitterClinGen:CA190154
single nucleotide variantNM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)BMPR1APathogenic108867914188679141CTcriteria provided, multiple submitters, no conflictsClinGen:CA186249
single nucleotide variantNM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)BMPR1APathogenic/Likely pathogenic108868335788683357CTcriteria provided, multiple submitters, no conflictsClinGen:CA186232
DeletionNM_004329.3(BMPR1A):c.247_251del (p.Phe83fs)BMPR1APathogenic108865189688651900ATTGCTAcriteria provided, multiple submitters, no conflictsClinGen:CA334485
single nucleotide variantNM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)BMPR1APathogenic/Likely pathogenic108863577888635778GCcriteria provided, multiple submitters, no conflictsClinGen:CA353511
DuplicationNM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs)BMPR1APathogenic108865193888651939AATTAGcriteria provided, single submitterClinGen:CA353504