Gene: NEFL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087

2016
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835

2015
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR To investigate the effects of NEFL Glu396Lys mutation on the expression and assembly of neurofilaments (NFs) in cutaneous nerve fibers of patients with Charcot-Marie-Tooth disease type 2E (CMT2E). 26109717

2015
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. 24887401

2014
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E. 22288874

2012
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. 21493625

2011
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. 19158810

2009
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. 14733962

2004
dbSNP: rs28928910
rs28928910
NEFL
A 0.810 CausalMutation CLINVAR

dbSNP: rs59443585
rs59443585
NEFL ; MIR6841
G 0.800 CausalMutation CLINVAR

dbSNP: rs60261494
rs60261494
NEFL
CT 0.800 CausalMutation CLINVAR

dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy. 27206872

2016
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. 26645395

2016
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. 25448007

2015
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. 25552649

2015
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. 19158810

2009
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280

2003
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. 12477167

2002
dbSNP: rs1411999109
rs1411999109
NEFL ; MIR6841
T 0.700 GeneticVariation CLINVAR

dbSNP: rs191346286
rs191346286
NEFL ; MIR6841
A 0.700 CausalMutation CLINVAR

dbSNP: rs58640772
rs58640772
NEFL
TCTCCACGTAGCGC 0.700 CausalMutation CLINVAR

dbSNP: rs62636505
rs62636505
NEFL
G 0.700 CausalMutation CLINVAR