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
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	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
Indel	NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs)	CDKN2A	Likely pathogenic	9	21970965	21970977	GCGCAGGTACCGT	CGCATC	criteria provided, single submitter	ClinGen:CA658656022
Deletion	NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs)	CDKN2A	Likely pathogenic	9	21971003	21971018	TCAGCCAGGTCCACGGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656026
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
single nucleotide variant	NM_000077.5(CDKN2A):c.151-2A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21971209	21971209	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086464
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.296G>C (p.Arg99Pro)	CDKN2A	Likely pathogenic	9	21971062	21971062	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086116
single nucleotide variant	NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971199	21971199	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA190730408