膵臓がん・悪性黒色腫症候群

腫瘍性疾患

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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.238del (p.Arg80fs)	CDKN2A	Likely pathogenic	9	21971120	21971120	CG	C	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.221del (p.Asp74fs)	CDKN2A	Pathogenic	9	21971137	21971137	GT	G	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	-
Deletion	NC_000009.12:g.(?_21968219)_(21994341_?)del	CDKN2A	Pathogenic	9	21968218	21994340	na	na	criteria provided, single submitter	-
Duplication	NM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs)	CDKN2A	Likely pathogenic	9	21970997	21970998	G	GCT	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.69del (p.Arg24fs)	CDKN2A	Pathogenic	9	21974758	21974758	GA	G	criteria provided, single submitter	-
Duplication	NM_000077.5(CDKN2A):c.197dup (p.His66fs)	CDKN2A	Pathogenic	9	21971160	21971161	G	GT	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>A	CDKN2A	Pathogenic	9	21971208	21971208	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000077.5(CDKN2A):c.189del (p.Leu64fs)	CDKN2A	Pathogenic	9	21971169	21971169	GC	G	criteria provided, single submitter	-