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Gene: BRCA2 & Disease: OC, 84 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9325	BRCA2	c.5946del	p.Ser1982fs (p.S1982fs)	NM_000059.4 M	Del	P	6 +	102
37859	BRCA2	c.3847_3848del	p.Val1283fs (p.V1283fs)	NM_000059.4 M	Del	P	11 +	76
37989	BRCA2	c.5682C>G	p.Tyr1894Ter (p.Y1894X)	NM_000059.4 M	SNV	P	10 +	52
37984	BRCA2	c.5645C>A	p.Ser1882Ter (p.S1882X)	NM_000059.4 M	SNV	P	10 +	50
52347	BRCA2	c.7522G>A	p.Gly2508Ser (p.G2508S)	NM_000059.4 M	SNV	LP	4 +	44
38208	BRCA2	c.9097dup	p.Thr3033fs (p.T3033fs)	NM_000059.4 M	Dup	P	6 +	43
37737	BRCA2	c.1310_1313del	p.Lys437fs (p.K437fs)	NM_000059.4 M	MS	P	3 +	37
51355	BRCA2	c.2830A>T	p.Lys944Ter (p.K944X)	NM_000059.4 M	SNV	P	4 +	34
38047	BRCA2	c.6468_6469del	p.Gln2157fs (p.Q2157fs)	NM_000059.4 M	MS	P	7 +	32
37936	BRCA2	c.4965C>G	p.Tyr1655Ter (p.Y1655X)	NM_000059.4 M	SNV	P	9 +	31
37830	BRCA2	c.3264dup	p.Gln1089fs (p.Q1089fs)	NM_000059.4 M	Dup	P	9 +	28
38131	BRCA2	c.7976G>A	p.Arg2659Lys (p.R2659K)	NM_000059.4 M	SNV	P	3 +	22
52418	BRCA2	c.7806-2A>G	--	NM_000059.4 M	SNV	P	5 +	21
	BRCA2	c.7806-2A>G	--	NM_001406720.1	SNV	P	5 +	21
	BRCA2	c.7710-2A>G	--	NM_001406719.1	SNV	P	5 +	21
	BRCA2	c.2874-2A>G	--	NM_001406721.1	SNV	P	5 +	21
	BRCA2	c.1389-2A>G	--	NM_001406722.1	SNV	P	5 +	21
38225	BRCA2	c.9253dup	p.Thr3085fs (p.T3085fs)	NM_000059.4 M	Dup	P	9 +	20
52888	BRCA2	c.9666del	p.Cys3222fs (p.C3222fs)	NM_000059.4 M	Del	P	3 +	20
38258	BRCA2	c.964A>C	p.Lys322Gln (p.K322Q)	NM_000059.4 M	SNV	LP	4 +	19

84 Results, 20 per Page

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