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_000059.4(BRCA2):c.6684del (p.Glu2229fs)	BRCA2	Pathogenic	13	32915176	32915176	TA	T	reviewed by expert panel	ClinGen:CA024290
Deletion	NM_000059.4(BRCA2):c.6688del (p.Ile2230fs)	BRCA2	Pathogenic	13	32915178	32915178	GA	G	reviewed by expert panel	ClinGen:CA024296
single nucleotide variant	NM_000059.4(BRCA2):c.67+1G>A	BRCA2	Pathogenic	13	32890665	32890665	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):295+1&base_change=G to A,ClinGen:CA024334
single nucleotide variant	NM_000059.4(BRCA2):c.67+1G>T	BRCA2	Pathogenic	13	32890665	32890665	G	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):295+1&base_change=G to T,ClinGen:CA024336
single nucleotide variant	NM_000059.4(BRCA2):c.67+2T>C	BRCA2	Pathogenic	13	32890666	32890666	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):295+2&base_change=T to C,ClinGen:CA024346
single nucleotide variant	NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)	BRCA2	Pathogenic	13	32915207	32915207	G	T	reviewed by expert panel	ClinGen:CA024321
Deletion	NM_000059.4(BRCA2):c.6732del (p.Lys2244fs)	BRCA2	Pathogenic	13	32915222	32915222	TA	T	reviewed by expert panel	ClinGen:CA024348
Deletion	NM_000059.4(BRCA2):c.673_676del (p.Thr225fs)	BRCA2	Pathogenic	13	32903621	32903624	TACTA	T	reviewed by expert panel	ClinGen:CA024352
Deletion	NM_000059.4(BRCA2):c.6743_6755del (p.His2248fs)	BRCA2	Pathogenic	13	32915233	32915245	GTCATGCCACACAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6971&base_change=del 13,ClinGen:CA024365
Duplication	NM_000059.4(BRCA2):c.6754dup (p.Ser2252fs)	BRCA2	Pathogenic	13	32915244	32915245	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6982&base_change=dup T,ClinGen:CA024377