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
Deletion	NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)	CDKN2A	Pathogenic	9	21971105	21971118	GCGTCGTGCACGGGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA299024
single nucleotide variant	NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)	CDKN2A	Pathogenic	9	21971109	21971109	G	C	criteria provided, single submitter	ClinGen:CA16602820
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.238C>T (p.Arg80Ter)	CDKN2A	Pathogenic/Likely pathogenic	9	21971120	21971120	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120380,OMIM:600160.0002
Deletion	NM_000077.5(CDKN2A):c.238del (p.Arg80fs)	CDKN2A	Likely pathogenic	9	21971120	21971120	CG	C	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.221del (p.Asp74fs)	CDKN2A	Pathogenic	9	21971137	21971137	GT	G	criteria provided, single submitter	-
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.212A>G (p.Asn71Ser)	CDKN2A	Likely pathogenic	9	21971146	21971146	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012207
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