Knowledge base for genomic medicine in Japanese
MUTYH関連ポリポーシス
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
duplicationNM_012222.2(MUTYH):c.1218_1219dup (p.Glu407fs)MUTYHPathogenic/Likely pathogenic14579718645797187TTCCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter)MUTYHPathogenic14579750745797507GAcriteria provided, multiple submitters, no conflicts-
short repeatNM_001048173.1(MUTYH):c.1350_1352GGA[1] (p.Glu452del)MUTYHPathogenic14579689145796893TTCCTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter)MUTYHPathogenic14580016545800165GAcriteria provided, multiple submitters, no conflicts-
deletionNM_012222.2(MUTYH):c.1138del (p.Ala382fs)MUTYHPathogenic/Likely pathogenic14579737245797372AGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter)MUTYHPathogenic/Likely pathogenic14579883845798838CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter)MUTYHPathogenic14579914445799144GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001128425.1(MUTYH):c.1186+1G>AMUTYHPathogenic/Likely pathogenic14579733245797332CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter)MUTYHPathogenic14579775245797752GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001048171.1(MUTYH):c.692G>A (p.Arg231His)MUTYHPathogenic/Likely pathogenic14579811745798117CTcriteria provided, multiple submitters, no conflicts-