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Mutation Direct

Effortless mutation search and display tool

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Gene: EPHB4 & Disease: CMAVM2, 71 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
590874	EPHB4	c.2484+1G>A	--	NM_004444.5 M	SNV	P	1 +	8
1806103	EPHB4	c.1788T>A	p.Tyr596Ter (p.Y596X)	NM_004444.5 M	SNV	P	1 +	5
1704386	EPHB4	c.2215C>T	p.Arg739Ter (p.R739X)	NM_004444.5 M	SNV	P	1 +	4
1678587	EPHB4	c.2287C>T	p.Arg763Ter (p.R763X)	NM_004444.5 M	SNV	P	1 +	4
1678591	EPHB4	c.1093C>T	p.Arg365Ter (p.R365X)	NM_004444.5 M	SNV	P	1 +	4
1806264	EPHB4	c.216G>A	p.Trp72Ter (p.W72X)	NM_004444.5 M	SNV	P	1 +	4
1805042	EPHB4	c.853T>C	p.Cys285Arg (p.C285R)	NM_004444.5 M	SNV	VUS	1 +	3
1699211	EPHB4	c.1362G>C	p.Trp454Cys (p.W454C)	NM_004444.5 M	SNV	VUS	1 +	3
1806256	EPHB4	c.964+3A>T	--	NM_004444.5 M	SNV	VUS	1 +	3
691539	EPHB4	c.2419G>A	p.Gly807Arg (p.G807R)	NM_004444.5 M	SNV	P	1 +	2
1698833	EPHB4	c.2420G>A	p.Gly807Glu (p.G807E)	NM_004444.5 M	SNV	LP	1 +	1
590870	EPHB4	c.33del	p.Leu12fs (p.L12fs)	NM_004444.5 M	Del	P	1 +	1
590873	EPHB4	c.1990G>A	p.Glu664Lys (p.E664K)	NM_004444.5 M	SNV	P	1 +	1
590871	EPHB4	c.802T>C	p.Cys268Arg (p.C268R)	NM_004444.5 M	SNV	P	1 +	1
590877	EPHB4	c.570dup	p.His191fs (p.H191fs)	NM_004444.5 M	Dup	P	1 +	1
590878	EPHB4	c.319T>C	p.Cys107Arg (p.C107R)	NM_004444.5 M	SNV	P	1 +	1
590872	EPHB4	c.632_633del	p.Val211fs (p.V211fs)	NM_004444.5 M	MS	P	1 +	1
590875	EPHB4	c.2484+1G>T	--	NM_004444.5 M	SNV	P	1 +	1
590876	EPHB4	c.2484+2dup	--	NM_004444.5 M	Dup	P	1 +	1
1344631	EPHB4	c.1526C>G	p.Ala509Gly (p.A509G)	NM_004444.5 M	SNV	VUS	3 +	1

71 Results, 20 per Page

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