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_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter)	BRCA2	Pathogenic	13	32972569	32972569	A	T	criteria provided, single submitter	ClinGen:CA387767049
Duplication	NM_000059.4(BRCA2):c.3620_3621dup (p.Leu1208fs)	BRCA2	Pathogenic	13	32912110	32912111	T	TTA	criteria provided, single submitter	ClinGen:CA658656419
Deletion	NM_000059.4(BRCA2):c.4013_4014del (p.Gly1338fs)	BRCA2	Pathogenic	13	32912505	32912506	GGC	G	criteria provided, single submitter	ClinGen:CA658656332
single nucleotide variant	NM_000059.4(BRCA2):c.4411A>T (p.Arg1471Ter)	BRCA2	Pathogenic	13	32912903	32912903	A	T	criteria provided, single submitter	ClinGen:CA387781188
Deletion	NM_000059.4(BRCA2):c.4884_4885del (p.Lys1628fs)	BRCA2	Pathogenic	13	32913374	32913375	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656364
Duplication	NM_000059.4(BRCA2):c.5205dup (p.Gln1736fs)	BRCA2	Pathogenic	13	32913692	32913693	G	GA	criteria provided, single submitter	ClinGen:CA658656382
Indel	NM_000059.4(BRCA2):c.5807_5816delinsGTC (p.Met1936fs)	BRCA2	Pathogenic	13	32914299	32914308	TGTCTGGATT	GTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656404
single nucleotide variant	NM_000059.4(BRCA2):c.6484A>T (p.Lys2162Ter)	BRCA2	Pathogenic	13	32914976	32914976	A	T	criteria provided, single submitter	ClinGen:CA387789461
single nucleotide variant	NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)	PALB2	Pathogenic	16	23625361	23625361	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA395141266
single nucleotide variant	NM_000059.4(BRCA2):c.7435+2T>C	BRCA2	Likely pathogenic	13	32929427	32929427	T	C	criteria provided, single submitter	ClinGen:CA387742153