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.8377G>T (p.Gly2793Ter)	BRCA2	Pathogenic	13	32944584	32944584	G	T	reviewed by expert panel	ClinGen:CA10586588
Indel	NM_000059.4(BRCA2):c.8378delinsAA (p.Gly2793fs)	BRCA2	Pathogenic	13	32944585	32944585	G	AA	reviewed by expert panel	ClinGen:CA10586589
single nucleotide variant	NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)	BRCA2	Pathogenic	13	32944685	32944685	C	A	reviewed by expert panel	ClinGen:CA6941230
Deletion	NM_000059.3(BRCA2):c.8488_8489delTG	BRCA2	Pathogenic	13	32945092	32945093	AGT	A	reviewed by expert panel	ClinGen:CA10586590
Deletion	NM_000059.4(BRCA2):c.8648del (p.Pro2883fs)	BRCA2	Pathogenic	13	32950821	32950821	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8875&base_change=del C,ClinGen:CA025760
Deletion	NM_000059.4(BRCA2):c.8767_8776del (p.Ser2922_Glu2923insTer)	BRCA2	Pathogenic	13	32953462	32953471	TCAGTGAAGAG	T	reviewed by expert panel	ClinGen:CA10586592
single nucleotide variant	NM_000059.4(BRCA2):c.8911A>T (p.Lys2971Ter)	BRCA2	Pathogenic	13	32953610	32953610	A	T	reviewed by expert panel	ClinGen:CA10586593
Duplication	NM_000059.4(BRCA2):c.8958dup (p.Leu2987fs)	BRCA2	Pathogenic	13	32953890	32953891	T	TA	reviewed by expert panel	ClinGen:CA10586594
Duplication	NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)	BRCA2	Pathogenic	13	32954271	32954272	T	TG	reviewed by expert panel	ClinGen:CA10586595
Duplication	NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)	BRCA2	Pathogenic	13	32968854	32968855	C	CG	reviewed by expert panel	ClinGen:CA6941373