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.457G>T (p.Asp153Tyr)	CDKN2A	Pathogenic/Likely pathogenic	9	21970901	21970901	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337714
Deletion	NC_000009.12:g.(?_21970896)_(21974833_?)del	CDKN2A	Pathogenic	9	21970895	21974832	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000077.5(CDKN2A):c.458-105A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21968346	21968346	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612773,OMIM:600160.0014
Deletion	NC_000009.12:g.(?_21968219)_(21994341_?)del	CDKN2A	Pathogenic	9	21968218	21994340	na	na	criteria provided, single submitter	-