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)
DeletionNM_004329.3(BMPR1A):c.39del (p.Tyr14fs)BMPR1APathogenic/Likely pathogenic108863581388635813GCGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)BMPR1APathogenic/Likely pathogenic108864992788649927TAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)BMPR1APathogenic/Likely pathogenic108863581488635815CCTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004329.3(BMPR1A):c.676-1G>ABMPR1APathogenic/Likely pathogenic108867689088676890GAcriteria provided, multiple submitters, no conflictsClinGen:CA377456808
single nucleotide variantNM_004329.3(BMPR1A):c.68-1G>ABMPR1APathogenic/Likely pathogenic108864981888649818GAcriteria provided, multiple submitters, no conflictsClinGen:CA377446195
single nucleotide variantNM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)BMPR1APathogenic/Likely pathogenic108867691288676912CTcriteria provided, multiple submitters, no conflictsClinGen:CA377457014
single nucleotide variantNM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)BMPR1APathogenic/Likely pathogenic108868133188681331CGcriteria provided, multiple submitters, no conflictsClinGen:CA377461997
single nucleotide variantNM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)BMPR1APathogenic/Likely pathogenic108863577688635776ACcriteria provided, multiple submitters, no conflictsClinGen:CA377774739
single nucleotide variantNM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)BMPR1APathogenic/Likely pathogenic108863577888635778GCcriteria provided, multiple submitters, no conflictsClinGen:CA353511
single nucleotide variantNM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)BMPR1APathogenic/Likely pathogenic108868335788683357CTcriteria provided, multiple submitters, no conflictsClinGen:CA186232