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
Deletion	NM_000059.4(BRCA2):c.6353_6366del (p.Val2118fs)	BRCA2	Pathogenic	13	32914843	32914856	GTGTAAACTCAGAAA	G	reviewed by expert panel	ClinGen:CA023946
single nucleotide variant	NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter)	BRCA2	Pathogenic	13	32914851	32914851	C	G	reviewed by expert panel	ClinGen:CA023950
Deletion	NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)	BRCA2	Pathogenic	13	32914860	32914860	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6601&base_change=del A,ClinGen:CA023958
single nucleotide variant	NM_000059.4(BRCA2):c.6382A>T (p.Lys2128Ter)	BRCA2	Pathogenic	13	32914874	32914874	A	T	reviewed by expert panel	ClinGen:CA023965
Duplication	NM_000059.4(BRCA2):c.6390dup (p.Lys2131Ter)	BRCA2	Pathogenic	13	32914879	32914880	A	AT	reviewed by expert panel	ClinGen:CA023972
Deletion	NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs)	BRCA2	Pathogenic	13	32914884	32914887	AAATT	A	reviewed by expert panel	ClinGen:CA023978
Deletion	NM_000059.4(BRCA2):c.63del (p.Ala22fs)	BRCA2	Pathogenic	13	32890658	32890658	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):291&base_change=del A,ClinGen:CA023987
Deletion	NM_000059.4(BRCA2):c.6401_6404del (p.Asn2134fs)	BRCA2	Pathogenic	13	32914891	32914894	CAAAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6629&base_change=del ATAA,ClinGen:CA023989
Deletion	NM_000059.4(BRCA2):c.6406_6407del (p.Leu2136fs)	BRCA2	Pathogenic	13	32914898	32914899	CTT	C	reviewed by expert panel	ClinGen:CA024002
Deletion	NM_000059.4(BRCA2):c.6407_6411del (p.Leu2136fs)	BRCA2	Pathogenic	13	32914898	32914902	CTTAAA	C	reviewed by expert panel	ClinGen:CA024004,Breast Cancer Information Core (BIC) (BRCA2):6635&base_change=del TAAAT