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
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
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
Duplication	NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs)	CDKN2A	Pathogenic	9	21971014	21971015	A	ACGGG	criteria provided, single submitter	ClinGen:CA10578836
Deletion	NM_000077.5(CDKN2A):c.175_212del (p.Val59fs)	CDKN2A	Pathogenic	9	21971146	21971183	GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC	G	criteria provided, single submitter	ClinGen:CA10578843
Deletion	NM_000077.5(CDKN2A):c.212del (p.Asn71fs)	CDKN2A	Pathogenic	9	21971146	21971146	GT	G	criteria provided, single submitter	ClinGen:CA10578844
single nucleotide variant	NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)	CDKN2A	Pathogenic	9	21974783	21974783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578852
single nucleotide variant	NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)	CDKN2A	Pathogenic	9	21971028	21971028	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602749
single nucleotide variant	NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter)	CDKN2A	Pathogenic	9	21971029	21971029	C	T	criteria provided, single submitter	ClinGen:CA16602750
single nucleotide variant	NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter)	CDKN2A	Pathogenic	9	21971096	21971096	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602751