Knowledge base for genomic medicine in Japanese
家族性大腸腺腫症
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001048174.2(MUTYH):c.420+2T>CMUTYHPathogenic/Likely pathogenic14579858845798588AGcriteria provided, multiple submitters, no conflictsClinGen:CA013687
single nucleotide variantNM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)MUTYHPathogenic14579720145797201GAcriteria provided, multiple submitters, no conflictsClinGen:CA012325
DeletionNM_001048174.2(MUTYH):c.49del (p.Ala17fs)MUTYHPathogenic14580012945800129GCGcriteria provided, multiple submitters, no conflictsClinGen:CA014621
single nucleotide variantNM_001048174.2(MUTYH):c.1103-2A>GMUTYHPathogenic/Likely pathogenic14579723045797230TCcriteria provided, multiple submitters, no conflictsClinGen:CA012245
single nucleotide variantNM_001048174.2(MUTYH):c.650G>A (p.Arg217His)MUTYHPathogenic/Likely pathogenic14579811745798117CTcriteria provided, multiple submitters, no conflictsClinGen:CA014226
single nucleotide variantNM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)MUTYHPathogenic14579775245797752GAcriteria provided, multiple submitters, no conflictsClinGen:CA014709
single nucleotide variantNM_001048174.2(MUTYH):c.1102+1G>AMUTYHPathogenic/Likely pathogenic14579733245797332CTcriteria provided, multiple submitters, no conflictsClinGen:CA012227
single nucleotide variantNM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)MUTYHPathogenic14579914445799144GAcriteria provided, multiple submitters, no conflictsClinGen:CA013297
single nucleotide variantNM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)MUTYHPathogenic/Likely pathogenic14579883845798838CTcriteria provided, multiple submitters, no conflictsClinGen:CA013516
single nucleotide variantNM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)MUTYHPathogenic14580016545800165GAcriteria provided, multiple submitters, no conflictsClinGen:CA013854