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	NM_000077.5(CDKN2A):c.221del (p.Asp74fs)	CDKN2A	Pathogenic	9	21971137	21971137	GT	G	criteria provided, single submitter	-
Duplication	NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974696	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012308
single nucleotide variant	NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974695	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086506
Deletion	NM_000077.5(CDKN2A):c.30del (p.Glu10fs)	CDKN2A	Pathogenic	9	21974797	21974797	GC	G	criteria provided, single submitter	ClinGen:CA658656038
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.79G>T (p.Glu27Ter)	CDKN2A	Pathogenic	9	21974748	21974748	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086600
Deletion	NM_000077.5(CDKN2A):c.283del (p.Val95fs)	CDKN2A	Pathogenic	9	21971075	21971075	AC	A	criteria provided, single submitter	ClinGen:CA658656027
Deletion	NC_000009.12:g.(?_21994140)_(21994331_?)del	CDKN2A	Pathogenic	9	21994139	21994330	na	na	criteria provided, single submitter	-
Duplication	NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)	CDKN2A	Pathogenic	9	21974781	21974782	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369445
Deletion	NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer)	CDKN2A	Pathogenic	9	21974695	21974695	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369444