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Mutation Direct

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Gene: EFNB1 & Disease: CFNS, 38 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
11715	EFNB1	c.196C>T	p.Arg66Ter (p.R66X)	NM_004429.5 M	SNV	P	1 +	6
11708	EFNB1	c.161C>T	p.Pro54Leu (p.P54L)	NM_004429.5 M	SNV	P	1 +	5
2573204	EFNB1	c.474G>A	p.Met158Ile (p.M158I)	NM_004429.5 M	SNV	P	1 +	3
1687181	EFNB1	c.128+1G>C	--	NM_004429.5 M	SNV	LP	1 +	3
812706	EFNB1	c.253C>T	p.Gln85Ter (p.Q85X)	NM_004429.5 M	SNV	P	1 +	3
981193	EFNB1	c.128+5G>A	--	NM_004429.5 M	SNV	LP	1 +	3
11709	EFNB1	c.451G>A	p.Gly151Ser (p.G151S)	NM_004429.5 M	SNV	P	1 +	3
100627	EFNB1	c.496C>T	p.Gln166Ter (p.Q166X)	NM_004429.5 M	SNV	P	1 +	2
11707	EFNB1	c.332C>T	p.Thr111Ile (p.T111I)	NM_004429.5 M	SNV	P	1 +	2
2500875	EFNB1	c.406+4A>G	--	NM_004429.5 M	SNV	VUS	1 +	1
2500937	EFNB1	c.101_114del	p.Pro34fs (p.P34fs)	NM_004429.5 M	Del	P	1 +	1
1895436	EFNB1	c.196del	p.Arg66fs (p.R66fs)	NM_004429.5 M	Del	P	1 +	1
374807	EFNB1	c.566T>C	p.Val189Ala (p.V189A)	NM_004429.5 M	SNV	B	1 +	1
929457	EFNB1	c.24G>A	p.Trp8Ter (p.W8X)	NM_004429.5 M	SNV	LP	1 +	1
981192	EFNB1	c.635_636del	p.Val212fs (p.V212fs)	NM_004429.5 M	MS	LP	1 +	1
981194	EFNB1	c.182A>G	p.Asp61Gly (p.D61G)	NM_004429.5 M	SNV	LP	1 +	1
634590	EFNB1	c.749T>G	p.Ile250Ser (p.I250S)	NM_004429.5 M	SNV	VUS	1 +	1
1222953	EFNB1	c.*6C>T	--	NM_004429.5 M	SNV	B	1 +	1
559938	EFNB1	c.499+1G>A	--	NM_004429.5 M	SNV	P	1 +	1
1494849	EFNB1	c.344A>G	p.Gln115Arg (p.Q115R)	NM_004429.5 M	SNV	LP	1 +	1

38 Results, 20 per Page

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