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Mutation Direct

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Gene: FBXW11 & Disease: NEDJED, 150 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1499943	FBXW11	c.1543C>T	p.Arg515Cys (p.R515C)	NM_001378974.1 M	SNV	VUS	1 +	2
	FBXW11	c.1474C>T	p.Arg492Cys (p.R492C)	NM_001378975.1	SNV	VUS	1 +	2
	FBXW11	c.1447C>T	p.Arg483Cys (p.R483C)	NM_001378976.1	SNV	VUS	1 +	2
	FBXW11	c.1384C>T	p.Arg462Cys (p.R462C)	NM_001378977.1	SNV	VUS	1 +	2
	FBXW11	c.1384C>T	p.Arg462Cys (p.R462C)	NM_001378978.1	SNV	VUS	1 +	2
	FBXW11	c.1384C>T	p.Arg462Cys (p.R462C)	NM_001378979.1	SNV	VUS	1 +	2
	FBXW11	c.1378C>T	p.Arg460Cys (p.R460C)	NM_001378980.1	SNV	VUS	1 +	2
	FBXW11	c.1480C>T	p.Arg494Cys (p.R494C)	NM_012300.3	SNV	VUS	1 +	2
	FBXW11	c.1441C>T	p.Arg481Cys (p.R481C)	NM_033644.3	SNV	VUS	1 +	2
	FBXW11	c.1378C>T	p.Arg460Cys (p.R460C)	NM_033645.3	SNV	VUS	1 +	2
917897	FBXW11	c.1154C>A	p.Ala385Asp (p.A385D)	NM_001378974.1 M	SNV	P	1 +	1
917898	FBXW11	c.787G>C	p.Gly263Arg (p.G263R)	NM_001378974.1 M	SNV	P	1 +	1
917896	FBXW11	c.1150C>T	p.Arg384Trp (p.R384W)	NM_001378974.1 M	SNV	P	1 +	1
873503	FBXW11	c.856T>C	p.Trp286Arg (p.W286R)	NM_001378974.1 M	SNV	LP	1 +	1
988593	FBXW11	c.1480G>A	p.Ala494Thr (p.A494T)	NM_001378974.1 M	SNV	VUS	1 +	1
2441400	FBXW11	c.529C>T	p.Arg177Ter (p.R177X)	NM_001378974.1 M	SNV	VUS	1 +	1
2441401	FBXW11	c.1489C>G	p.Pro497Ala (p.P497A)	NM_001378974.1 M	SNV	VUS	1 +	1
1064509	FBXW11	c.1156G>A	p.Ala386Thr (p.A386T)	NM_001378974.1 M	SNV	P	1 +	1
1064510	FBXW11	c.1393G>A	p.Glu465Lys (p.E465K)	NM_001378974.1 M	SNV	LP	1 +	1
1064511	FBXW11	c.1403G>A	p.Arg468Gln (p.R468Q)	NM_001378974.1 M	SNV	P	1 +	1

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