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
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.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	-
single nucleotide variant	NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)	CDKN2A	Pathogenic/Likely pathogenic	9	21974681	21974681	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086481
Duplication	NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)	CDKN2A	Pathogenic	9	21974781	21974782	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369445
single nucleotide variant	NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)	CDKN2A	Likely pathogenic	9	21974760	21974760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086621
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