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Gene: NEFL & Disease: CMT2E, 346 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14029	NEFL	c.64C>T	p.Pro22Ser (p.P22S)	NM_006158.5 M	SNV	P	4 +	14
66671	NEFL	c.1186G>A	p.Glu396Lys (p.E396K)	NM_006158.5 M	SNV	P	3 +	10
66688	NEFL	c.23C>G	p.Pro8Arg (p.P8R)	NM_006158.5 M	SNV	P	2 +	10
41236	NEFL	c.293A>G	p.Asn98Ser (p.N98S)	NM_006158.5 M	SNV	P	5 +	9
66689	NEFL	c.23C>T	p.Pro8Leu (p.P8L)	NM_006158.5 M	SNV	P	1 +	8
287020	NEFL	c.22C>A	p.Pro8Thr (p.P8T)	NM_006158.5 M	SNV	P	2 +	6
14030	NEFL	c.22_23delinsAG	p.Pro8Arg (p.P8R)	NM_006158.5 M	Indel	P	2 +	6
372433	NEFL	c.294T>G	p.Asn98Lys (p.N98K)	NM_006158.5 M	SNV	LP	1 +	6
155738	NEFL	c.1319C>T	p.Pro440Leu (p.P440L)	NM_006158.5 M	SNV	P	2 +	5
219429	NEFL	c.65C>A	p.Pro22His (p.P22H)	NM_006158.5 M	SNV	VUS	1 +	5
1473249	NEFL	c.22C>G	p.Pro8Ala (p.P8A)	NM_006158.5 M	SNV	VUS	1 +	5
576990	NEFL	c.22C>T	p.Pro8Ser (p.P8S)	NM_006158.5 M	SNV	VUS	1 +	5
192322	NEFL	c.1261C>T	p.Arg421Ter (p.R421X)	NM_006158.5 M	SNV	P	2 +	5
41237	NEFL	c.446C>T	p.Ala149Val (p.A149V)	NM_006158.5 M	SNV	VUS	2 +	3
1685969	NEFL	c.54C>G	p.Tyr18Ter (p.Y18X)	NM_006158.5 M	SNV	P	1 +	3
1074146	NEFL	c.1099C>T	p.Arg367Ter (p.R367X)	NM_006158.5 M	SNV	P	1 +	3
66695	NEFL	c.639C>G	p.Ile213Met (p.I213M)	NM_006158.5 M	SNV	LB	3 +	3
2188761	NEFL	c.1044+2T>G	--	NM_006158.5 M	SNV	LP	1 +	3
841453	NEFL	c.269A>G	p.Glu90Gly (p.E90G)	NM_006158.5 M	SNV	VUS	1 +	3
575696	NEFL	c.1044+5G>C	--	NM_006158.5 M	SNV	VUS	1 +	2

346 Results, 20 per Page

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