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.9770_9771del (p.Lys3257fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972419	32972420	GAA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32930696	32930697	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32929413	32929413	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913413	32913413	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912428	32912428	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912404	32912405	CTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1846del (p.Cys616fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907461	32907461	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32899272	32899272	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_058216.3(RAD51C):c.706-2A>C	RAD51C	Pathogenic/Likely pathogenic	17	56787218	56787218	A	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)	BRCA2	Pathogenic/Likely pathogenic	13	32899298	32899299	T	TCTAAATTC	criteria provided, multiple submitters, no conflicts	-