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.5635G>T (p.Glu1879Ter)	BRCA2	Pathogenic	13	32914127	32914127	G	T	reviewed by expert panel	ClinGen:CA022785
Deletion	NM_000059.4(BRCA2):c.5763del (p.Phe1921fs)	BRCA2	Pathogenic	13	32914251	32914251	GT	G	reviewed by expert panel	ClinGen:CA023173
Deletion	NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)	BRCA2	Pathogenic	13	32914354	32914355	CTT	C	reviewed by expert panel	ClinGen:CA023313
Duplication	NM_000059.4(BRCA2):c.5934dup (p.Ser1979Ter)	BRCA2	Pathogenic	13	32914421	32914422	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6158&base_change=ins T,ClinGen:CA023382
single nucleotide variant	NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)	BRCA2	Pathogenic	13	32914647	32914647	C	A	reviewed by expert panel	ClinGen:CA023704
Duplication	NM_000059.4(BRCA2):c.6367_6370dup (p.Lys2124fs)	BRCA2	Pathogenic	13	32914858	32914859	G	GGAAA	reviewed by expert panel	ClinGen:CA196587
Deletion	NM_000059.4(BRCA2):c.6458del (p.Pro2153fs)	BRCA2	Pathogenic	13	32914949	32914949	TC	T	reviewed by expert panel	ClinGen:CA024075
single nucleotide variant	NM_000059.4(BRCA2):c.6475C>T (p.Gln2159Ter)	BRCA2	Pathogenic	13	32914967	32914967	C	T	reviewed by expert panel	ClinGen:CA024094
Insertion	NM_000059.4(BRCA2):c.6663_6664insAAAG (p.Tyr2222fs)	BRCA2	Pathogenic	13	32915155	32915156	C	CAAAG	reviewed by expert panel	ClinGen:CA024269
Deletion	NM_000059.4(BRCA2):c.7026del (p.Glu2343fs)	BRCA2	Pathogenic	13	32929015	32929015	CA	C	reviewed by expert panel	ClinGen:CA024771