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.132C>A (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974695	G	T	criteria provided, single submitter	-
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.132C>G (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974695	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086506
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
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_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.146T>G (p.Ile49Ser)	CDKN2A	Pathogenic/Likely pathogenic	9	21974681	21974681	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086481
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
single nucleotide variant	NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974678	21974678	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578849,UniProtKB:P42771#VAR_001423
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