遺伝性乳がん・卵巣がん症候群

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.6800C>A (p.Ser2267Ter)	BRCA2	Pathogenic	13	32915292	32915292	C	A	reviewed by expert panel	ClinGen:CA024416
Deletion	NM_000059.4(BRCA2):c.6809del (p.Gly2270fs)	BRCA2	Pathogenic	13	32915300	32915300	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7037&base_change=del G,ClinGen:CA024424
single nucleotide variant	NM_000059.4(BRCA2):c.681+4A>G	BRCA2	Pathogenic/Likely pathogenic	13	32903633	32903633	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA024432
Deletion	NM_000059.4(BRCA2):c.6814del (p.Arg2272fs)	BRCA2	Pathogenic	13	32915302	32915302	GA	G	reviewed by expert panel	ClinGen:CA024434
Deletion	NM_000059.4(BRCA2):c.6816_6817del (p.Gly2274fs)	BRCA2	Pathogenic	13	32915308	32915309	GAA	G	reviewed by expert panel	ClinGen:CA024440
single nucleotide variant	NM_000059.4(BRCA2):c.682-1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32905055	32905055	G	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):910-1&base_change=G to C,ClinGen:CA024456
Deletion	NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)	BRCA2	Pathogenic	13	32915321	32915325	CCTTAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7057&base_change=del CTTAT,Breast Cancer Information Core (BIC) (BRCA2):7061&base_change=del TCTTA,ClinGen:CA024468
Deletion	NM_000059.4(BRCA2):c.6841+1del	BRCA2	Pathogenic/Likely pathogenic	13	32915332	32915332	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA024488
single nucleotide variant	NM_000059.4(BRCA2):c.6938-2A>G	BRCA2	Pathogenic	13	32920962	32920962	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7166-2&base_change=A to G,ClinGen:CA024592
Deletion	NM_000059.4(BRCA2):c.6959del (p.Leu2320fs)	BRCA2	Pathogenic	13	32920984	32920984	AT	A	reviewed by expert panel	ClinGen:CA024633