家族性膵がん - MGenReviews

家族性膵がん

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.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
Indel	NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)	CDKN2A	Likely pathogenic	9	21971155	21971156	GC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578845
Deletion	NM_000077.5(CDKN2A):c.212del (p.Asn71fs)	CDKN2A	Pathogenic	9	21971146	21971146	GT	G	criteria provided, single submitter	ClinGen:CA10578844
Deletion	NM_000077.5(CDKN2A):c.175_212del (p.Val59fs)	CDKN2A	Pathogenic	9	21971146	21971183	GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC	G	criteria provided, single submitter	ClinGen:CA10578843
single nucleotide variant	NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly)	CDKN2A	Pathogenic/Likely pathogenic	9	21971024	21971024	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578837
Duplication	NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs)	CDKN2A	Pathogenic	9	21971014	21971015	A	ACGGG	criteria provided, single submitter	ClinGen:CA10578836
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA350461
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.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.142C>A (p.Pro48Thr)	CDKN2A	Pathogenic/Likely pathogenic	9	21974685	21974685	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334526