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.95T>C (p.Leu32Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974732	21974732	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582657,UniProtKB:P42771#VAR_001416
Duplication	NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)	CDKN2A	Pathogenic	9	21974720	21974721	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA196201
Duplication	NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974696	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012308
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.132C>A (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974695	G	T	criteria provided, single submitter	-
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
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