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.8218_8222del (p.Leu2740fs)	BRCA2	Likely pathogenic	13	32937557	32937561	CTTAAA	C	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.3235dup (p.Ser1079fs)	BRCA2	Pathogenic	13	32911724	32911725	G	GT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912822	32912826	TAATAA	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.5385dup (p.Asp1796fs)	BRCA2	Pathogenic	13	32913873	32913874	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5618_5622del (p.Val1873fs)	BRCA2	Pathogenic	13	32914110	32914114	GTAATT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter)	BRCA2	Pathogenic	13	32914633	32914633	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.6500T>G (p.Leu2167Ter)	BRCA2	Pathogenic	13	32914992	32914992	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter)	BRCA2	Pathogenic	13	32915292	32915292	C	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918736	32918740	CAGGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.7628_7629del (p.Tyr2543fs)	BRCA2	Likely pathogenic	13	32931888	32931889	GTA	G	criteria provided, single submitter	-