膵臓がん・悪性黒色腫症候群

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
single nucleotide variant	NM_000077.5(CDKN2A):c.132C>A (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974695	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000077.5(CDKN2A):c.41_43delinsG (p.Asp14fs)	CDKN2A	Pathogenic	9	21974784	21974786	AGT	C	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_21994129)_(21994341_?)del	CDKN2A	Pathogenic	9	21994128	21994340	na	na	criteria provided, single submitter	-