List of variants in gene NEFL reported as likely benign for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val)	rs551896980
NM_006158.4(NEFL):c.1212C>T (p.Ser404=)	rs60547413
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn)	rs57153321
NM_006158.4(NEFL):c.227T>C (p.Val76Ala)	rs58907919
NM_006158.4(NEFL):c.321C>G (p.Arg107=)	rs1198042093
NM_006158.4(NEFL):c.423G>A (p.Gln141=)	rs59161567
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp)	rs532240912
NM_006158.4(NEFL):c.639C>G (p.Ile213Met)	rs62636522
NM_006158.4(NEFL):c.855C>T (p.Thr285=)	rs1065083
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)	rs0
NM_006158.5(NEFL):c.1169+14G>A	rs0
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)	rs0
NM_006158.5(NEFL):c.420G>A (p.Glu140=)	rs1586128713
NM_006158.5(NEFL):c.612C>T (p.Leu204=)	rs0
NM_006158.5(NEFL):c.630G>A (p.Glu210=)	rs0
NM_006158.5(NEFL):c.678G>T (p.Val226=)	rs0
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)	rs0

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.