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
Deletion	NC_000009.12:g.(?_21994129)_(21994341_?)del	CDKN2A	Pathogenic	9	21994128	21994340	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_21968219)_(21994341_?)del	CDKN2A	Pathogenic	9	21968218	21994340	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_21994140)_(21994331_?)del	CDKN2A	Pathogenic	9	21994139	21994330	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter)	CDKN2A	Pathogenic	9	21994234	21994234	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_058195.4(CDKN2A):c.193+1G>A	CDKN2A	Pathogenic	9	21994137	21994137	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612794,OMIM:600160.0020
single nucleotide variant	NM_058195.4(CDKN2A):c.193+5G>A	CDKN2A	Pathogenic/Likely pathogenic	9	21994133	21994133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166694
single nucleotide variant	NM_058195.4(CDKN2A):c.194-3653G>T	CDKN2A	Pathogenic	9	21974860	21974860	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299030,OMIM:600160.0010
Deletion	NC_000009.12:g.(?_21970896)_(21974833_?)del	CDKN2A	Pathogenic	9	21970895	21974832	na	na	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.30del (p.Glu10fs)	CDKN2A	Pathogenic	9	21974797	21974797	GC	G	criteria provided, single submitter	ClinGen:CA658656038
single nucleotide variant	NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter)	CDKN2A	Pathogenic	9	21974792	21974792	G	T	criteria provided, multiple submitters, no conflicts	-