MUTYH関連ポリポーシス

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NM_001048174.2(MUTYH):c.1393-2_1393-1del	MUTYH	Likely pathogenic	1	45796230	45796231	CCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.264+1G>A	MUTYH	Likely pathogenic	1	45799084	45799084	C	T	criteria provided, single submitter	-