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_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	MUTYH	Pathogenic	1	45805891	45805891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340137829
single nucleotide variant	NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45805892	45805892	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617170