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.225_243del (p.Ala76fs)	CDKN2A	Pathogenic	9	21971115	21971133	CGGGTCGGGTGAGAGTGGCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299023
single nucleotide variant	NM_000077.5(CDKN2A):c.151-1G>C	CDKN2A	Pathogenic	9	21971208	21971208	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299032
Insertion	NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974696	G	GTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA299022
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
Duplication	NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup)	CDKN2A	Pathogenic/Likely pathogenic	9	21971020	21971021	A	AGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA186348
single nucleotide variant	NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu)	CDKN2A	Likely pathogenic	9	21971179	21971179	G	T	criteria provided, single submitter	ClinGen:CA194216
single nucleotide variant	NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)	CDKN2A	Likely pathogenic	9	21974678	21974678	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA198385
single nucleotide variant	NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr)	CDKN2A	Pathogenic/Likely pathogenic	9	21974685	21974685	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334526
single nucleotide variant	NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	CDKN2A	Pathogenic/Likely pathogenic	9	21970901	21970901	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337714
single nucleotide variant	NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter)	CDKN2A	Pathogenic	9	21974679	21974679	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350345