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.254G>A (p.Trp85Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799095	45799095	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)	MUTYH	Pathogenic/Likely pathogenic	1	45800177	45800177	T	C	criteria provided, multiple submitters, no conflicts	-