MUTYH関連ポリポーシス

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH	Pathogenic/Likely pathogenic	1	45797228	45797228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011561,OMIM:604933.0002
single nucleotide variant	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH	Pathogenic/Likely pathogenic	1	45798475	45798475	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011761,OMIM:604933.0001