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Gene: EBP & Disease: CDPX2, 55 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
11492	EBP	c.440G>A	p.Arg147His (p.R147H)	NM_006579.3 M	SNV	P	1 +	7
11485	EBP	c.238G>A	p.Glu80Lys (p.E80K)	NM_006579.3 M	SNV	P	2 +	4
1699251	EBP	c.338+1G>C	--	NM_006579.3 M	SNV	P	1 +	4
158531	EBP	c.15G>T	p.Ala5= (p.A5=)	NM_006579.3 M	SNV	B	2 +	3
158545	EBP	c.328C>T	p.Arg110Ter (p.R110X)	NM_006579.3 M	SNV	P	1 +	3
158551	EBP	c.511C>T	p.Arg171Cys (p.R171C)	NM_006579.3 M	SNV	LP	1 +	3
1410474	EBP	c.184C>T	p.Arg62Trp (p.R62W)	NM_006579.3 M	SNV	P	1 +	3
218685	EBP	c.13G>A	p.Ala5Thr (p.A5T)	NM_006579.3 M	SNV	LB	2 +	2
592979	EBP	c.650C>T	p.Thr217Met (p.T217M)	NM_006579.3 M	SNV	LB	2 +	2
11484	EBP	c.187C>T	p.Arg63Ter (p.R63X)	NM_006579.3 M	SNV	P	1 +	2
158533	EBP	c.204G>T	p.Trp68Cys (p.W68C)	NM_006579.3 M	SNV	P	1 +	2
158547	EBP	c.382C>T	p.Leu128= (p.L128=)	NM_006579.3 M	SNV	B	1 +	2
158554	EBP	c.684GAA[1]	p.Lys229Del (p.K229del)	NM_006579.3 M	MS	VUS	1 +	2
2585070	EBP	c.470-3C>G	--	NM_006579.3 M	SNV	VUS	1 +	1
2501695	EBP	c.312T>A	p.Tyr104Ter (p.Y104X)	NM_006579.3 M	SNV	P	1 +	1
2498139	EBP	c.278A>T	p.Asp93Val (p.D93V)	NM_006579.3 M	SNV	LP	1 +	1
1339008	EBP	c.206T>G	p.Phe69Cys (p.F69C)	NM_006579.3 M	SNV	VUS	1 +	1
803990	EBP	c.261C>G	p.Tyr87Ter (p.Y87X)	NM_006579.3 M	SNV	P	1 +	1
989351	EBP	c.203G>A	p.Trp68Ter (p.W68X)	NM_006579.3 M	SNV	P	1 +	1
11483	EBP	c.87G>A	p.Trp29Ter (p.W29X)	NM_006579.3 M	SNV	P	1 +	1

55 Results, 20 per Page

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