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.186del (p.Phe62fs)	BRCA2	Pathogenic	13	32893330	32893330	AT	A	reviewed by expert panel	ClinGen:CA013668
single nucleotide variant	NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)	BRCA2	Pathogenic	13	32910437	32910437	C	T	reviewed by expert panel	ClinGen:CA014000
Deletion	NM_000059.4(BRCA2):c.2025del (p.Cys676fs)	BRCA2	Pathogenic	13	32910517	32910517	CA	C	reviewed by expert panel	ClinGen:CA014147
single nucleotide variant	NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter)	BRCA2	Pathogenic	13	32893363	32893363	C	T	reviewed by expert panel	ClinGen:CA014544
single nucleotide variant	NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter)	BRCA2	Pathogenic	13	32910706	32910706	T	A	reviewed by expert panel	ClinGen:CA014637
Deletion	NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)	BRCA2	Pathogenic	13	32910745	32910746	CTG	C	reviewed by expert panel	ClinGen:CA014756
Duplication	NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)	BRCA2	Pathogenic	13	32910821	32910822	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2558&base_change=ins A,ClinGen:CA014965,OMIM:600185.0026
single nucleotide variant	NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)	BRCA2	Pathogenic	13	32910860	32910860	G	T	reviewed by expert panel	ClinGen:CA015053
Deletion	NM_000059.4(BRCA2):c.2370del (p.Glu790fs)	BRCA2	Pathogenic	13	32910861	32910861	GA	G	reviewed by expert panel	ClinGen:CA015057
Duplication	NM_000059.4(BRCA2):c.2617dup (p.Ile873fs)	BRCA2	Pathogenic	13	32911104	32911105	C	CA	reviewed by expert panel	ClinGen:CA015849