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)
single nucleotide variantNM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)MUTYHPathogenic/Likely pathogenic14579685645796856TAcriteria provided, multiple submitters, no conflictsClinGen:CA338021
DeletionNM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)MUTYHPathogenic/Likely pathogenic14579719145797201AGGTCACGGACGAcriteria provided, multiple submitters, no conflictsClinGen:CA336859
single nucleotide variantNM_001048174.2(MUTYH):c.420+2T>GMUTYHLikely pathogenic14579858845798588ACcriteria provided, single submitterClinGen:CA336154
single nucleotide variantNM_001048174.2(MUTYH):c.305-2A>GMUTYHPathogenic/Likely pathogenic14579884445798844TCcriteria provided, multiple submitters, no conflictsClinGen:CA337713
single nucleotide variantNM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)MUTYHPathogenic/Likely pathogenic14579622945796229CAcriteria provided, multiple submitters, no conflictsClinGen:CA056613
DeletionNM_001048174.2(MUTYH):c.1017_1035del (p.Arg340fs)MUTYHPathogenic14579740045797418TGGCAGAGCTCTCCTCCCTGTcriteria provided, single submitterClinGen:CA353501
single nucleotide variantNM_001048174.2(MUTYH):c.1434+1G>TMUTYHLikely pathogenic14579618745796187CAcriteria provided, multiple submitters, no conflictsClinGen:CA10577697
single nucleotide variantNM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)MUTYHPathogenic/Likely pathogenic14579685945796859TAcriteria provided, multiple submitters, no conflictsClinGen:CA10577699
single nucleotide variantNM_001048174.2(MUTYH):c.1240-1G>TMUTYHLikely pathogenic14579700745797007CAcriteria provided, single submitterClinGen:CA10577706
single nucleotide variantNM_001048174.2(MUTYH):c.763A>G (p.Met255Val)MUTYHPathogenic/Likely pathogenic14579792445797924TCcriteria provided, multiple submitters, no conflictsClinGen:CA10577722