NEFL (neurofilament light chain) - Rat Genome Database

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Gene: NEFL (neurofilament light chain) Homo sapiens
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Symbol: NEFL
Name: neurofilament light chain
RGD ID: 1344238
HGNC Page HGNC:7739
Description: Enables identical protein binding activity and tubulin binding activity. A structural constituent of cytoskeleton. Involved in axonal transport and neurofilament bundle assembly. Located in axon and neurofilament. Implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Biomarker of several diseases, including Lewy body dementia; autoimmune disease (multiple); demyelinating disease (multiple); neurodegenerative disease (multiple); and prion disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 68 kDa neurofilament protein; CMT1F; CMT2E; CMTDIG; FLJ53642; light molecular weight neurofilament protein; neurofilament light; neurofilament light polypeptide; neurofilament protein, light chain; neurofilament subunit NF-L; neurofilament triplet L protein; neurofilament, light polypeptide; neurofilament, light polypeptide 68kDa; neurofilament-light; NF-L; NF68; NFL; PPP1R110
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NEFLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl824,950,955 - 24,956,721 (-)EnsemblGRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36Build 36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
T2T-CHM13v2.0825,226,443 - 25,232,101 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute disseminated encephalomyelitis  (IEP)
AIDS Dementia Complex  (IEP)
Alzheimer's disease  (IEP)
amyotrophic lateral sclerosis  (IDA,IEP,ISO)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis  (IEP)
Auditory Neuropathy  (IAGP)
autosomal dominant distal hereditary motor neuronopathy  (IAGP)
autosomal dominant distal hereditary motor neuronopathy 14  (IAGP)
Charcot-Marie-Tooth disease  (IAGP)
Charcot-Marie-Tooth disease dominant intermediate G  (IAGP)
Charcot-Marie-Tooth disease type 1  (IAGP)
Charcot-Marie-Tooth disease type 1C  (IAGP)
Charcot-Marie-Tooth disease type 1F  (EXP,IAGP)
Charcot-Marie-Tooth disease type 2E  (EXP,IAGP,ISS)
Charcot-Marie-Tooth disease type 2EE  (IAGP)
congenital hypothyroidism  (ISO)
COVID-19  (IEP)
Creutzfeldt-Jakob disease  (IEP)
demyelinating disease  (IEP)
depressive disorder  (ISO)
distal myopathy  (IAGP)
Experimental Autoimmune Encephalomyelitis  (ISO)
fatal familial insomnia  (IEP)
frontotemporal dementia  (IEP)
Frontotemporal Lobar Degeneration  (IEP)
genetic disease  (IAGP)
HIV Seropositivity  (IEP)
human immunodeficiency virus infectious disease  (IEP)
hypothyroidism  (ISO)
invasive ductal carcinoma  (IAGP)
Lewy body dementia  (IEP)
Malnutrition  (ISO)
middle cerebral artery infarction  (ISO)
mild cognitive impairment  (IEP)
multiple sclerosis  (IEP)
neuromyelitis optica  (IEP)
neuropathy  (IAGP)
Neurosyphilis  (IEP)
Parkinson's disease  (IEP)
peripheral nervous system disease  (IAGP)
progressive multifocal leukoencephalopathy  (IEP)
relapsing-remitting multiple sclerosis  (IEP)
sciatic neuropathy  (ISO)
sensorineural hearing loss  (IAGP)
Sepsis  (IEP)
Sepsis-Associated Encephalopathy  (IEP)
Sjogren's syndrome  (IEP)
Spinal Cord Injuries  (ISO)
spinal muscular atrophy  (IAGP)
Sporadic Creutzfeldt-Jakob Disease  (IEP)
Stroke  (IEP)
syphilis  (IEP)
Talipes Cavus  (IAGP)
transient cerebral ischemia  (ISO)
vascular dementia  (IEP)
Wallerian Degeneration  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-methylcholine  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-azacytidine  (EXP)
6-Cyano-7-nitroquinoxaline-2,3-dione  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
alpha-amanitin  (ISO)
aluminium sulfate (anhydrous)  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antimycin A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
atrazine  (EXP)
azoxystrobin  (EXP)
BAPTA  (ISO)
belinostat  (EXP)
Benzamil  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
Brodifacoum  (ISO)
bucladesine  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
Calpeptin  (ISO)
calyculin a  (ISO)
camptothecin  (EXP)
carbon disulfide  (ISO)
chloroethene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
coenzyme Q10  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
cordycepin  (ISO)
Cuprizon  (ISO)
cycloheximide  (ISO)
cyfluthrin  (EXP)
cypermethrin  (EXP)
daidzein 7-O-beta-D-glucoside  (ISO)
dantrolene  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diuron  (ISO)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
emetine  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
glyburide  (ISO)
Heptachlor epoxide  (ISO)
hydrogen sulfide  (ISO)
idebenone  (ISO)
indometacin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
KN-93  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leupeptin  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
memantine  (ISO)
mercury dibromide  (EXP)
methylmercury chloride  (EXP,ISO)
mono(2-ethyl-5-hydroxyhexyl) phthalate  (EXP)
mono(2-ethyl-5-oxohexyl) phthalate  (EXP)
mono(5-carboxy-2-ethylpentyl) phthalate  (EXP)
N-acetyl-L-cysteine  (ISO)
N-methyl-D-aspartic acid  (ISO)
N-Nitrosopyrrolidine  (EXP)
nicardipine  (ISO)
nifedipine  (ISO)
Nilvadipine  (ISO)
Nutlin-3  (EXP)
O-methyleugenol  (EXP)
ouabain  (EXP)
paclitaxel  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (ISO)
PCB138  (ISO)
pentanal  (EXP)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
propanal  (EXP)
puromycin  (ISO)
pyridoxine  (ISO)
raloxifene  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
staurosporine  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
terbutaline  (ISO)
tetrachloroethene  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trifluoperazine  (ISO)
trimethyltin  (ISO)
U-73122  (ISO)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
verapamil  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vorinostat  (EXP)
Z-Val-Phe-H  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal foot morphology  (IAGP)
Abnormal motor evoked potentials  (IAGP)
Abnormality of the hand  (IAGP)
Absent brainstem auditory responses  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cervical spinal cord atrophy  (IAGP)
Childhood onset  (IAGP)
Clusters of axonal regeneration  (IAGP)
Cognitive impairment  (IAGP)
Decreased distal sensory nerve action potential  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased number of large peripheral myelinated nerve fibers  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Decreased/absent ankle reflexes  (IAGP)
Demyelinating motor neuropathy  (IAGP)
Demyelinating sensory neuropathy  (IAGP)
Difficulty running  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal upper limb amyotrophy  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Extremely elevated creatine kinase  (IAGP)
Facial palsy  (IAGP)
Falls  (IAGP)
Fasciculations  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of finger  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
Hand muscle weakness  (IAGP)
Hand tremor  (IAGP)
Head tremor  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired pain sensation  (IAGP)
Impaired proprioception  (IAGP)
Impaired vibratory sensation  (IAGP)
Inability to walk  (IAGP)
Increased connective tissue  (IAGP)
Infantile onset  (IAGP)
Juvenile onset  (IAGP)
Limb ataxia  (IAGP)
Lower limb amyotrophy  (IAGP)
Lower limb muscle weakness  (IAGP)
Middle age onset  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Myelin outfoldings  (IAGP)
Nemaline bodies  (IAGP)
Nystagmus  (IAGP)
Onion bulb formation  (IAGP)
Optic nerve hypoplasia  (IAGP)
Paresthesia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Positive Romberg sign  (IAGP)
Proximal lower limb amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Ptosis  (IAGP)
Restless legs  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spasticity  (IAGP)
Split hand  (IAGP)
Steppage gait  (IAGP)
Talipes calcaneovalgus  (IAGP)
Tip-toe gait  (IAGP)
Tongue atrophy  (IAGP)
Tremor  (IAGP)
Ulnar claw  (IAGP)
Unsteady gait  (IAGP)
Upper limb muscle weakness  (IAGP)
Urinary incontinence  (IAGP)
Waddling gait  (IAGP)
Weakness of facial musculature  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Blood neurofilament light concentration at admittance: a potential prognostic marker in COVID-19. Aamodt AH, etal., J Neurol. 2021 Mar 20. pii: 10.1007/s00415-021-10517-6. doi: 10.1007/s00415-021-10517-6.
2. The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias. Abu-Rumeileh S, etal., Alzheimers Res Ther. 2018 Jan 11;10(1):3. doi: 10.1186/s13195-017-0331-1.
3. Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges. Abu-Rumeileh S, etal., Ann Neurol. 2018 Sep;84(3):347-360. doi: 10.1002/ana.25300. Epub 2018 Aug 31.
4. Diagnostic value of surrogate CSF biomarkers for Creutzfeldt-Jakob disease in the era of RT-QuIC. Abu-Rumeileh S, etal., J Neurol. 2019 Dec;266(12):3136-3143. doi: 10.1007/s00415-019-09537-0. Epub 2019 Sep 20.
5. Cerebrospinal fluid interferon alpha levels correlate with neurocognitive impairment in ambulatory HIV-Infected individuals. Anderson AM, etal., J Neurovirol. 2017 Feb;23(1):106-112. doi: 10.1007/s13365-016-0466-z. Epub 2016 Jul 11.
6. Neurofilament light chain in blood is negatively associated with neuropsychological performance in HIV-infected adults and declines with initiation of antiretroviral therapy. Anderson AM, etal., J Neurovirol. 2018 Dec;24(6):695-701. doi: 10.1007/s13365-018-0664-y. Epub 2018 Aug 13.
7. Clinical, Radiological, and Laboratory Features of Spinal Cord Involvement in Primary Sjögren's Syndrome. Butryn M, etal., J Clin Med. 2020 May 14;9(5). pii: jcm9051482. doi: 10.3390/jcm9051482.
8. Effects of brain ischemia on intermediate filaments of rat hippocampus. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
9. Potential Role of CHI3L1+ Astrocytes in Progression in MS. Cubas-Núñez L, etal., Neurol Neuroimmunol Neuroinflamm. 2021 Mar 3;8(3). pii: 8/3/e972. doi: 10.1212/NXI.0000000000000972. Print 2021 May 4.
10. Serum neurofilaments increase at progressive multifocal leukoencephalopathy onset in natalizumab-treated multiple sclerosis patients. Dalla Costa G, etal., Ann Neurol. 2019 Apr;85(4):606-610. doi: 10.1002/ana.25437. Epub 2019 Mar 5.
11. The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study. Ehler J, etal., PLoS One. 2019 Jan 24;14(1):e0211184. doi: 10.1371/journal.pone.0211184. eCollection 2019.
12. Cytoskeleton of hippocampal neurons as a target for valproic acid in an experimental model of depression. Ferrero AJ, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2007 Oct 1;31(7):1419-28. Epub 2007 Jun 26.
13. Serum Neurofilament Levels and PML Risk in Patients With Multiple Sclerosis Treated With Natalizumab. Fissolo N, etal., Neurol Neuroimmunol Neuroinflamm. 2021 Apr 26;8(4). pii: 8/4/e1003. doi: 10.1212/NXI.0000000000001003. Print 2021 Jul.
14. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
15. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
16. mRNA levels of all three neurofilament proteins decline following nerve transection. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
17. Cerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease. Kanata E, etal., J Clin Neurosci. 2019 Feb;60:124-127. doi: 10.1016/j.jocn.2018.09.031. Epub 2018 Oct 9.
18. Neurochemical evidence of astrocytic and neuronal injury commonly found in COVID-19. Kanberg N, etal., Neurology. 2020 Sep 22;95(12):e1754-e1759. doi: 10.1212/WNL.0000000000010111. Epub 2020 Jun 16.
19. Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis. Kong J and Xu Z, Neurosci Lett. 2000 Mar 3;281(1):72-4.
20. Cerebrospinal fluid light and heavy neurofilament level increased in anti-N-methyl-d-aspartate receptor encephalitis. Li J, etal., Brain Behav. 2019 Aug;9(8):e01354. doi: 10.1002/brb3.1354. Epub 2019 Jul 17.
21. Increased CSF Soluble TREM2 Concentration in Patients With Neurosyphilis. Li W, etal., Front Neurol. 2020 Feb 5;11:62. doi: 10.3389/fneur.2020.00062. eCollection 2020.
22. High serum neurofilament levels among Chinese patients with aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders. Liu C, etal., J Clin Neurosci. 2021 Jan;83:108-111. doi: 10.1016/j.jocn.2020.11.016. Epub 2020 Dec 13.
23. Impaired Neurofilament Integrity and Neuronal Morphology in Different Models of Focal Cerebral Ischemia and Human Stroke Tissue. Mages B, etal., Front Cell Neurosci. 2018 Jun 18;12:161. doi: 10.3389/fncel.2018.00161. eCollection 2018.
24. CSF neurofilament light chain reflects corticospinal tract degeneration in ALS. Menke RA, etal., Ann Clin Transl Neurol. 2015 Jul;2(7):748-55. doi: 10.1002/acn3.212. Epub 2015 May 25.
25. Cerebrospinal fluid levels of neurofilament light in chronic experimental autoimmune encephalomyelitis. Norgren N, etal., Brain Res Bull. 2005 Oct 30;67(4):264-8.
26. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
27. Malnutrition induces an increase in intermediate filament protein content of rat cerebral cortex. Paz MM, etal., J Nutr. 1991 Sep;121(9):1349-54. doi: 10.1093/jn/121.9.1349.
28. Insulin deficiency rather than hyperglycemia accounts for impaired neurotrophic responses and nerve fiber regeneration in type 1 diabetic neuropathy. Pierson CR, etal., J Neuropathol Exp Neurol. 2003 Mar;62(3):260-71.
29. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
30. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
31. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
32. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
33. Thyroid hormones stimulate expression and modification of cytoskeletal protein during rat sciatic nerve regeneration. Schenker M, etal., Brain Res. 2002 Dec 13;957(2):259-70.
34. [Tetramethylpyrazine accelerated spinal cord repair through regulation of caspase-3 and neurofilament protein expression: an acute spinal cord injury model in rats]. Shen ZX, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Aug;33(8):693-9.
35. Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease. Steinacker P, etal., Sci Rep. 2016 Dec 8;6:38737. doi: 10.1038/srep38737.
36. Serum Neurofilament Light Chain Levels in the Intensive Care Unit: Comparison between Severely Ill Patients with and without Coronavirus Disease 2019. Sutter R, etal., Ann Neurol. 2021 Mar;89(3):610-616. doi: 10.1002/ana.26004. Epub 2021 Jan 11.
37. Selective solubilization of high-molecular-mass neurofilament subunit during nerve regeneration. Tsuda M, etal., J Neurochem. 2000 Feb;74(2):860-8.
38. Persistent central nervous system immune activation following more than 10 years of effective HIV antiretroviral treatment. Ulfhammer G, etal., AIDS. 2018 Sep 24;32(15):2171-2178. doi: 10.1097/QAD.0000000000001950.
39. Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis. Verde F, etal., J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):157-164. doi: 10.1136/jnnp-2018-318704. Epub 2018 Oct 11.
40. Biomarkers for central nervous system injury in cerebrospinal fluid are elevated in COVID-19 and associated with neurological symptoms and disease severity. Virhammar J, etal., Eur J Neurol. 2020 Dec 28. doi: 10.1111/ene.14703.
41. Serum neurofilament light chain in pediatric MS and other acquired demyelinating syndromes. Wong YYM, etal., Neurology. 2019 Sep 3;93(10):e968-e974. doi: 10.1212/WNL.0000000000008057. Epub 2019 Aug 5.
42. Loss of heterozygosity from the short arm of chromosome 8 is associated with invasive behavior in breast cancer. Yaremko ML, etal., Genes Chromosomes Cancer. 1996 Jul;16(3):189-95.
43. Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. Zamoner A, etal., Neurotoxicology. 2008 Nov;29(6):1092-9. doi: 10.1016/j.neuro.2008.09.004. Epub 2008 Sep 18.
44. Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. Zerr I, etal., Alzheimers Dement. 2018 Jun;14(6):751-763. doi: 10.1016/j.jalz.2017.12.008. Epub 2018 Feb 3.
45. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Zuchner S, etal., Neuromuscul Disord 2004 Feb;14(2):147-57.
Additional References at PubMed
PMID:1497855   PMID:1902666   PMID:2516804   PMID:3034332   PMID:3036423   PMID:3121319   PMID:3145240   PMID:6135695   PMID:8125298   PMID:8180132   PMID:8344946   PMID:8530496  
PMID:8615909   PMID:8621664   PMID:8665664   PMID:8863508   PMID:9388258   PMID:9425014   PMID:9481670   PMID:9763415   PMID:10373510   PMID:10841809   PMID:11220745   PMID:12133495  
PMID:12226091   PMID:12231460   PMID:12403814   PMID:12432080   PMID:12477167   PMID:12477932   PMID:12481988   PMID:12566280   PMID:12730211   PMID:12815021   PMID:12837694   PMID:12911634  
PMID:14622581   PMID:14662745   PMID:15111691   PMID:15122254   PMID:15241803   PMID:15324660   PMID:15383276   PMID:15489334   PMID:15654615   PMID:15686490   PMID:15857389   PMID:16049941  
PMID:16084104   PMID:16169070   PMID:16344560   PMID:16452125   PMID:16678934   PMID:16930284   PMID:17052987   PMID:17290105   PMID:17475803   PMID:17620486   PMID:17683050   PMID:17903209  
PMID:17923616   PMID:18023247   PMID:18758688   PMID:19034380   PMID:19110265   PMID:19123978   PMID:19158810   PMID:19286384   PMID:19488899   PMID:19678766   PMID:19950375   PMID:20039262  
PMID:20086018   PMID:20201926   PMID:20213320   PMID:20301366   PMID:20301384   PMID:20301462   PMID:20301532   PMID:20381070   PMID:21039366   PMID:21044950   PMID:21197541   PMID:21653829  
PMID:21860087   PMID:21873635   PMID:21983493   PMID:22246235   PMID:22288874   PMID:22302611   PMID:22319610   PMID:22458338   PMID:22586326   PMID:22680408   PMID:22765307   PMID:23287695  
PMID:23455924   PMID:23705811   PMID:23802559   PMID:23827424   PMID:23870535   PMID:23992471   PMID:24026393   PMID:24073237   PMID:24242746   PMID:24244333   PMID:24454911   PMID:24515731  
PMID:24523921   PMID:24554482   PMID:24711643   PMID:24722188   PMID:24733614   PMID:24887401   PMID:25241761   PMID:25264603   PMID:25312269   PMID:25339208   PMID:25416956   PMID:25583183  
PMID:25605243   PMID:25724651   PMID:25877835   PMID:25934855   PMID:25959826   PMID:26016807   PMID:26186194   PMID:26209061   PMID:26460568   PMID:26524180   PMID:26645395   PMID:26801564  
PMID:26870824   PMID:26871637   PMID:27107012   PMID:27173435   PMID:27503460   PMID:27521440   PMID:27581216   PMID:27609421   PMID:27634302   PMID:27732645   PMID:27819296   PMID:27862672  
PMID:27880917   PMID:28148632   PMID:28404801   PMID:28428015   PMID:28500227   PMID:28514442   PMID:28524877   PMID:28527630   PMID:28611094   PMID:28631955   PMID:29070659   PMID:29108879  
PMID:29321234   PMID:29747637   PMID:29791485   PMID:29937097   PMID:30004022   PMID:30036759   PMID:30209243   PMID:30217938   PMID:30626432   PMID:30664784   PMID:30745168   PMID:30776989  
PMID:30786919   PMID:30951523   PMID:31123861   PMID:31129709   PMID:31151840   PMID:31182505   PMID:31199010   PMID:31295725   PMID:31391242   PMID:31420461   PMID:31514172   PMID:31516913  
PMID:31586073   PMID:31640103   PMID:31701893   PMID:31802104   PMID:31871319   PMID:31898161   PMID:31944090   PMID:32096416   PMID:32203420   PMID:32296183   PMID:32310173   PMID:32376155  
PMID:32587320   PMID:32592719   PMID:32707033   PMID:32758395   PMID:32814053   PMID:32862040   PMID:32877691   PMID:32883119   PMID:32979786   PMID:33001583   PMID:33158499   PMID:33199433  
PMID:33204362   PMID:33216030   PMID:33221749   PMID:33239751   PMID:33313663   PMID:33427873   PMID:33436881   PMID:33594224   PMID:33609080   PMID:33626531   PMID:33636389   PMID:33759425  
PMID:33827960   PMID:33931805   PMID:33961781   PMID:33963718   PMID:34079125   PMID:34099648   PMID:34120902   PMID:34151807   PMID:34278578   PMID:34311152   PMID:34349018   PMID:34398223  
PMID:34433481   PMID:34728620   PMID:34843548   PMID:34944022   PMID:35031058   PMID:35087088   PMID:35088243   PMID:35094171   PMID:35235311   PMID:35271311   PMID:35437240   PMID:35446349  
PMID:35575683   PMID:35871350   PMID:35914814   PMID:36094631   PMID:36168627   PMID:36200879   PMID:36221099   PMID:36289175   PMID:36323711   PMID:36326357   PMID:36326394   PMID:36443917  
PMID:36472640   PMID:36508390   PMID:36517590   PMID:36543540   PMID:36602623   PMID:36621163   PMID:36689008   PMID:36776136   PMID:36780781   PMID:36809754   PMID:36897256   PMID:36959506  
PMID:36964488   PMID:37003244   PMID:37023526   PMID:37060852   PMID:37071682   PMID:37130728   PMID:37314537   PMID:37335505   PMID:37392405   PMID:37393503   PMID:37491327   PMID:37519166  
PMID:37530894   PMID:37545369   PMID:37739331   PMID:37778613   PMID:37797300   PMID:37843431   PMID:37875471   PMID:37923059   PMID:38007650   PMID:38017278   PMID:38339819   PMID:38347655  
PMID:38503931   PMID:38627748   PMID:38678084   PMID:38697112   PMID:38780027   PMID:38972635   PMID:39197554   PMID:39362930  


Genomics

Comparative Map Data
NEFL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl824,950,955 - 24,956,721 (-)EnsemblGRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36Build 36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
T2T-CHM13v2.0825,226,443 - 25,232,101 (-)NCBIT2T-CHM13v2.0
Nefl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391468,321,312 - 68,326,544 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1468,321,312 - 68,326,544 (+)EnsemblGRCm39 Ensembl
GRCm381468,083,863 - 68,089,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1468,083,863 - 68,089,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv371468,701,941 - 68,705,802 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361467,037,214 - 67,041,075 (+)NCBIMGSCv36mm8
Celera1465,851,013 - 65,854,872 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1435.46NCBI
Nefl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81546,477,330 - 46,481,203 (+)NCBIGRCr8
mRatBN7.21542,301,920 - 42,305,793 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1542,301,916 - 42,305,793 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1544,166,607 - 44,170,480 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01545,316,823 - 45,320,696 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01543,762,173 - 43,766,046 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01544,799,378 - 44,803,251 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1544,799,334 - 44,804,574 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01546,793,526 - 46,797,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41547,636,303 - 47,640,176 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11547,652,082 - 47,655,956 (+)NCBI
Celera1541,961,053 - 41,964,926 (+)NCBICelera
Cytogenetic Map15p12NCBI
Nefl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540347,946,353 - 47,952,026 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540347,946,413 - 47,951,734 (-)NCBIChiLan1.0ChiLan1.0
NEFL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2743,458,273 - 43,464,389 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1819,192,463 - 19,198,032 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0824,218,510 - 24,224,627 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1821,134,533 - 21,140,694 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl821,134,533 - 21,140,694 (-)Ensemblpanpan1.1panPan2
NEFL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12532,463,361 - 32,468,965 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2532,463,452 - 32,467,224 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2533,046,764 - 33,052,425 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02532,662,329 - 32,667,982 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2532,662,412 - 32,667,975 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12532,617,778 - 32,623,430 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02532,467,208 - 32,472,860 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02532,633,319 - 32,638,980 (+)NCBIUU_Cfam_GSD_1.0
Nefl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494310,389,433 - 10,393,833 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367571,642,222 - 1,645,697 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367571,642,122 - 1,646,499 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEFL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl148,991,331 - 8,997,112 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1148,991,321 - 8,996,900 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21410,087,492 - 10,093,071 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NEFL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1823,077,085 - 23,083,213 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl823,077,086 - 23,083,222 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605219,090,237 - 19,096,168 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nefl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475820,062,685 - 20,068,609 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475820,063,109 - 20,068,459 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEFL
600 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006158.5(NEFL):c.1026C>G (p.Ala342=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000549995]|not provided [RCV001696989] Chr8:24955490 [GRCh38]
Chr8:24813004 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173732]|Charcot-Marie-Tooth disease type 2E [RCV000554848]|Inborn genetic diseases [RCV002358503]|NEFL-related disorder [RCV003942793]|not provided [RCV003884612] Chr8:24955934 [GRCh38]
Chr8:24813448 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) indel Charcot-Marie-Tooth disease type 2E [RCV003766930]|not specified [RCV000516180] Chr8:24953493..24953494 [GRCh38]
Chr8:24811006..24811007 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000034135] Chr8:24955515 [GRCh38]
Chr8:24813029 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857201]|Charcot-Marie-Tooth disease type 1F [RCV000034136]|Charcot-Marie-Tooth disease type 1F [RCV001027680]|Charcot-Marie-Tooth disease type 2E [RCV000554079]|Charcot-Marie-Tooth disease, dominant intermediate G [RCV000585792]|Sensorineural hearing loss disorder [RCV001843465]|not provided [RCV000057136] Chr8:24956223 [GRCh38]
Chr8:24813737 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000034137]|Charcot-Marie-Tooth disease type 2E [RCV001364663]|not provided [RCV000057139] Chr8:24956070 [GRCh38]
Chr8:24813584 [GRCh37]
Chr8:8p21.2		 pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000034138]|not provided [RCV000057143] Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000034139]|not provided [RCV000057145] Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000022674] Chr8:24955888 [GRCh38]
Chr8:24813402 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000015072]|not provided [RCV000057151] Chr8:24955521 [GRCh38]
Chr8:24813035 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) single nucleotide variant Charcot-Marie-Tooth disease type 1C [RCV000194357]|Charcot-Marie-Tooth disease type 1F [RCV001196666]|Charcot-Marie-Tooth disease type 2E [RCV000015073]|Decreased nerve conduction velocity [RCV000414916]|Inborn genetic diseases [RCV002362585]|Pes cavus [RCV000415401]|not provided [RCV000057144] Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|not provided
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) indel Charcot-Marie-Tooth disease type 1F [RCV000015075]|Charcot-Marie-Tooth disease type 2E [RCV000015074]|not provided [RCV000057129] Chr8:24956493..24956494 [GRCh38]
Chr8:24814007..24814008 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NEFL, 3-BP DEL, 1581GAG deletion Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015076]|Charcot-Marie-Tooth disease, type IF [RCV000015076] Chr8:8p21 pathogenic
NEFL, 13-BP DUP/INS, NT61 duplication Charcot-Marie-Tooth disease type 2E [RCV000015077] Chr8:8p21 pathogenic
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000015078]|not provided [RCV000057135] Chr8:24956235 [GRCh38]
Chr8:24813749 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000015079]|not provided [RCV000057137] Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.1287C>T (p.Thr429=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001476411]|Inborn genetic diseases [RCV002386063] Chr8:24953678 [GRCh38]
Chr8:24811192 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.321C>G (p.Arg107=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173054]|Charcot-Marie-Tooth disease type 2E [RCV000640669] Chr8:24956195 [GRCh38]
Chr8:24813709 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.621C>G (p.Ala207=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640672] Chr8:24955895 [GRCh38]
Chr8:24813409 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV002490884]|Charcot-Marie-Tooth disease type 2E [RCV000809657]|Hereditary motor neuron disease [RCV001027486]|Inborn genetic diseases [RCV002420299]|not provided [RCV001584230]|not specified [RCV000516482] Chr8:24955723 [GRCh38]
Chr8:24813237 [GRCh37]
Chr8:8p21.2		 likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.797A>G (p.Glu266Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000530689] Chr8:24955719 [GRCh38]
Chr8:24813233 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000546476]|Inborn genetic diseases [RCV002525054]|not specified [RCV000518369] Chr8:24955800 [GRCh38]
Chr8:24813314 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del) microsatellite Charcot-Marie-Tooth disease type 2E [RCV000701661]|not specified [RCV000518110] Chr8:24953636..24953638 [GRCh38]
Chr8:24811150..24811152 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3 copy number gain See cases [RCV000052167] Chr8:23961808..25436108 [GRCh38]
Chr8:23819321..25293624 [GRCh37]
Chr8:23875266..25349541 [NCBI36]
Chr8:8p21.2		 uncertain significance
GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3 copy number gain See cases [RCV000052168] Chr8:24463803..25049184 [GRCh38]
Chr8:24321316..24906699 [GRCh37]
Chr8:24377206..24962616 [NCBI36]
Chr8:8p21.2		 uncertain significance
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12		 pathogenic
NM_006158.4(NEFL):c.1534G>A (p.Gly512Ser) single nucleotide variant Malignant melanoma [RCV000068258] Chr8:24952908 [GRCh38]
Chr8:24810421 [GRCh37]
Chr8:24866338 [NCBI36]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.-44_-42delinsATG indel not provided [RCV000057110] Chr8:24956557..24956559 [GRCh38]
Chr8:24814071..24814073 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.-54TC[3] microsatellite not provided [RCV000057111] Chr8:24956562..24956563 [GRCh38]
Chr8:24814076..24814077 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.1045-19dup duplication not provided [RCV000057112] Chr8:24954323..24954324 [GRCh38]
Chr8:24811837..24811838 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174356]|Charcot-Marie-Tooth disease type 2E [RCV000534161]|Charcot-Marie-Tooth disease, dominant intermediate G [RCV000585797]|not provided [RCV000057113] Chr8:24953779 [GRCh38]
Chr8:24811293 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys) single nucleotide variant not provided [RCV000057114] Chr8:24953776 [GRCh38]
Chr8:24811290 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173047]|Charcot-Marie-Tooth disease type 1F [RCV000261709]|Charcot-Marie-Tooth disease type 2E [RCV001080353]|not provided [RCV000057115]|not specified [RCV000420597] Chr8:24953753 [GRCh38]
Chr8:24811267 [GRCh37]
Chr8:8p21.2		 benign|likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.123C>T (p.Ser41=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002054900]|not provided [RCV000057116] Chr8:24956393 [GRCh38]
Chr8:24813907 [GRCh37]
Chr8:8p21.2		 likely benign|not provided
NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter) single nucleotide variant not provided [RCV000057117] Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173044]|Charcot-Marie-Tooth disease type 1F [RCV000311183]|Charcot-Marie-Tooth disease type 2E [RCV001082150]|Inborn genetic diseases [RCV002390203]|not provided [RCV000057118]|not specified [RCV000444012] Chr8:24953563 [GRCh38]
Chr8:24811077 [GRCh37]
Chr8:8p21.2		 benign|likely benign|not provided
NM_006158.5(NEFL):c.1458C>T (p.Ala486=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001080656]|not provided [RCV000057119]|not specified [RCV000789604] Chr8:24953507 [GRCh38]
Chr8:24811020 [GRCh37]
Chr8:8p21.2		 benign|likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001854170]|not provided [RCV000057120]|not specified [RCV000789605] Chr8:24952950 [GRCh38]
Chr8:24810463 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.1560C>A (p.Thr520=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001087291]|not provided [RCV000057121] Chr8:24952882 [GRCh38]
Chr8:24810395 [GRCh37]
Chr8:8p21.2		 benign|likely benign|not provided
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) microsatellite Charcot-Marie-Tooth disease type 1F [RCV000015076]|Charcot-Marie-Tooth disease type 2E [RCV001080241]|not provided [RCV000057123]|not specified [RCV000481083] Chr8:24952861..24952863 [GRCh38]
Chr8:24810374..24810376 [GRCh37]
Chr8:8p21.2		 pathogenic|benign|not provided
NM_006158.5(NEFL):c.1590T>G (p.Val530=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002054901]|not provided [RCV000057124]|not specified [RCV000441793] Chr8:24952852 [GRCh38]
Chr8:24810365 [GRCh37]
Chr8:8p21.2		 likely benign|not provided
NM_006158.5(NEFL):c.189G>A (p.Ser63=) single nucleotide variant not provided [RCV000057125] Chr8:24956327 [GRCh38]
Chr8:24813841 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789662]|Charcot-Marie-Tooth disease type 2E [RCV005055556]|not provided [RCV000057126] Chr8:24956497 [GRCh38]
Chr8:24814011 [GRCh37]
Chr8:8p21.2		 uncertain significance|not provided
NM_006158.5(NEFL):c.227T>A (p.Val76Glu) single nucleotide variant not provided [RCV000057127] Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173052]|Charcot-Marie-Tooth disease type 1F [RCV000267478]|Charcot-Marie-Tooth disease type 2E [RCV001087779]|NEFL-related disorder [RCV003974942]|not provided [RCV000057128]|not specified [RCV000790247] Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2		 benign|likely benign|not provided
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174358]|not provided [RCV000057130] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789663]|Charcot-Marie-Tooth disease type 2E [RCV000234847]|Inborn genetic diseases [RCV002426613]|not provided [RCV000057131] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001235472]|Inborn genetic diseases [RCV003278661]|not provided [RCV000057132] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001854171]|not provided [RCV000057133] Chr8:24956248 [GRCh38]
Chr8:24813762 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.279G>A (p.Gln93=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002054902]|NEFL-related disorder [RCV003905024]|not provided [RCV000057134]|not specified [RCV000789602] Chr8:24956237 [GRCh38]
Chr8:24813751 [GRCh37]
Chr8:8p21.2		 benign|likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.423G>A (p.Gln141=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173048]|Charcot-Marie-Tooth disease type 2E [RCV001079790]|not provided [RCV000057138]|not specified [RCV000609209] Chr8:24956093 [GRCh38]
Chr8:24813607 [GRCh37]
Chr8:8p21.2		 benign|likely benign|not provided
NM_006158.5(NEFL):c.45G>A (p.Lys15=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001162498]|Charcot-Marie-Tooth disease type 2E [RCV002513733]|not provided [RCV000057140] Chr8:24956471 [GRCh38]
Chr8:24813985 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance|not provided
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) duplication Charcot-Marie-Tooth disease [RCV000790245]|Charcot-Marie-Tooth disease type 2E [RCV000015077]|not provided [RCV000057141] Chr8:24956455..24956456 [GRCh38]
Chr8:24813969..24813970 [GRCh37]
Chr8:8p21.2		 pathogenic|uncertain significance|not provided
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173051]|Charcot-Marie-Tooth disease type 1F [RCV001160882]|Charcot-Marie-Tooth disease type 2E [RCV001081393]|Inborn genetic diseases [RCV002362689]|NEFL-related disorder [RCV003925018]|not provided [RCV000057142]|not specified [RCV000507003] Chr8:24955877 [GRCh38]
Chr8:24813391 [GRCh37]
Chr8:8p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006158.5(NEFL):c.667C>T (p.Leu223=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173735]|Charcot-Marie-Tooth disease type 2E [RCV001082849]|Charcot-Marie-Tooth disease, type I [RCV000352974]|not provided [RCV000057146]|not specified [RCV000375590] Chr8:24955849 [GRCh38]
Chr8:24813363 [GRCh37]
Chr8:8p21.2		 benign|likely benign|not provided
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002513734]|not provided [RCV000057147]|not specified [RCV000789603] Chr8:24955796 [GRCh38]
Chr8:24813310 [GRCh37]
Chr8:8p21.2		 benign|likely benign|not provided
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) single nucleotide variant Peripheral neuropathy [RCV001836726]|not provided [RCV000057148] Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2		 pathogenic|not provided
NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del) deletion not provided [RCV000057149] Chr8:24955539..24955553 [GRCh38]
Chr8:24813053..24813067 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.969G>T (p.Arg323=) single nucleotide variant not provided [RCV000057150] Chr8:24955547 [GRCh38]
Chr8:24813061 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002513735]|not provided [RCV000057152] Chr8:24955518 [GRCh38]
Chr8:24813032 [GRCh37]
Chr8:8p21.2		 uncertain significance|not provided
NM_006158.5(NEFL):c.1576dup (p.Glu526fs) duplication not provided [RCV000057122] Chr8:24952865..24952866 [GRCh38]
Chr8:24810378..24810379 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001367925] Chr8:24953574 [GRCh38]
Chr8:24811088 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1170-13T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173734]|Charcot-Marie-Tooth disease type 2E [RCV002055713]|Charcot-Marie-Tooth disease, type I [RCV000316969]|not provided [RCV004704983]|not specified [RCV000127189] Chr8:24953808 [GRCh38]
Chr8:24811322 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001253085] Chr8:24956218 [GRCh38]
Chr8:24813732 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173041]|not provided [RCV000143807] Chr8:24955509 [GRCh38]
Chr8:24813023 [GRCh37]
Chr8:8p21.2		 likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789071]|Charcot-Marie-Tooth disease type 2E [RCV001044771]|Inborn genetic diseases [RCV002381450]|not provided [RCV000143808] Chr8:24953646 [GRCh38]
Chr8:24811160 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000205727]|not provided [RCV000143809] Chr8:24956227 [GRCh38]
Chr8:24813741 [GRCh37]
Chr8:8p21.2		 benign|uncertain significance
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857200]|not provided [RCV000143810] Chr8:24955722 [GRCh38]
Chr8:24813236 [GRCh37]
Chr8:8p21.2		 likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.803T>G (p.Leu268Arg) single nucleotide variant not provided [RCV000143811] Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174357]|Charcot-Marie-Tooth disease type 2E [RCV000172912]|not provided [RCV004821990] Chr8:24953704 [GRCh38]
Chr8:24811218 [GRCh37]
Chr8:8p21.2		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 copy number gain See cases [RCV000137878] Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2		 uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
Single allele duplication Gestational diabetes mellitus uncontrolled [RCV000161539] Chr8:24604793..25028671 [GRCh37]
Chr8:8p21.2		 not provided
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173736]|Charcot-Marie-Tooth disease type 1F [RCV000407613]|Charcot-Marie-Tooth disease type 2E [RCV000196314]|Inborn genetic diseases [RCV002390524]|not provided [RCV004712164]|not specified [RCV000437037] Chr8:24953558 [GRCh38]
Chr8:24811072 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.65C>A (p.Pro22His) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV004796100]|Charcot-Marie-Tooth disease type 2E [RCV000205038]|not provided [RCV004998422] Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000764772]|Charcot-Marie-Tooth disease type 2E [RCV001081473]|Inborn genetic diseases [RCV002390546]|not provided [RCV000235949]|not specified [RCV001657993] Chr8:24952832 [GRCh38]
Chr8:24810345 [GRCh37]
Chr8:8p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000206730]|Inborn genetic diseases [RCV002381708]|not specified [RCV000518282] Chr8:24955548 [GRCh38]
Chr8:24813062 [GRCh37]
Chr8:8p21.2		 pathogenic|uncertain significance
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12		 pathogenic
NM_006158.5(NEFL):c.1407_1408delinsA (p.Ser472fs) indel not provided [RCV000756414] Chr8:24953557..24953558 [GRCh38]
Chr8:24811071..24811072 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514503]|Inborn genetic diseases [RCV002414233]|not provided [RCV001507726] Chr8:24956334 [GRCh38]
Chr8:24813848 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000764773]|Charcot-Marie-Tooth disease type 2E [RCV000535984]|not provided [RCV000762503] Chr8:24955530 [GRCh38]
Chr8:24813044 [GRCh37]
Chr8:8p21.2		 likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001309852]|Inborn genetic diseases [RCV002399798]|not provided [RCV000218430] Chr8:24952854 [GRCh38]
Chr8:24810367 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.487G>C (p.Glu163Gln) single nucleotide variant not provided [RCV000218821] Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001854762]|Inborn genetic diseases [RCV002381754]|not provided [RCV000216546] Chr8:24953592 [GRCh38]
Chr8:24811106 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.231C>G (p.Ala77=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002104946] Chr8:24956285 [GRCh38]
Chr8:24813799 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.780C>T (p.Asp260=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000226239] Chr8:24955736 [GRCh38]
Chr8:24813250 [GRCh37]
Chr8:8p21.2		 likely benign
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857196]|Charcot-Marie-Tooth disease type 2E [RCV000640659]|not provided [RCV001711645] Chr8:24953786 [GRCh38]
Chr8:24811300 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001857912]|not specified [RCV000517287] Chr8:24955944 [GRCh38]
Chr8:24813458 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*883G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000269943] Chr8:24951927 [GRCh38]
Chr8:24809440 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*486T>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000286843] Chr8:24952324 [GRCh38]
Chr8:24809837 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*426G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000373061]|not provided [RCV004712563] Chr8:24952384 [GRCh38]
Chr8:24809897 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.*244A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000400041] Chr8:24952566 [GRCh38]
Chr8:24810079 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*878A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000327322] Chr8:24951932 [GRCh38]
Chr8:24809445 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*82T>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000307000] Chr8:24952728 [GRCh38]
Chr8:24810241 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*1643G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000376650]|not provided [RCV004707198] Chr8:24951167 [GRCh38]
Chr8:24808680 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*1806T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000290458] Chr8:24951004 [GRCh38]
Chr8:24808517 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*1256G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000311138]|not provided [RCV004712561] Chr8:24951554 [GRCh38]
Chr8:24809067 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000356601]|Charcot-Marie-Tooth disease type 2E [RCV000640667]|Inborn genetic diseases [RCV002379247] Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*235A>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000294023]|not provided [RCV001718784] Chr8:24952575 [GRCh38]
Chr8:24810088 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.*1107C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000314514]|not provided [RCV004705463] Chr8:24951703 [GRCh38]
Chr8:24809216 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*378A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000338445]|not provided [RCV004705464] Chr8:24952432 [GRCh38]
Chr8:24809945 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*1100C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000362239]|not provided [RCV004707199] Chr8:24951710 [GRCh38]
Chr8:24809223 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*687G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000264408]|not provided [RCV004712562] Chr8:24952123 [GRCh38]
Chr8:24809636 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.*407_*408del deletion Charcot-Marie-Tooth disease, type I [RCV000280884] Chr8:24952402..24952403 [GRCh38]
Chr8:24809915..24809916 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*1344G>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000297649] Chr8:24951466 [GRCh38]
Chr8:24808979 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*485A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000316144] Chr8:24952325 [GRCh38]
Chr8:24809838 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*51A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000364047] Chr8:24952759 [GRCh38]
Chr8:24810272 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*101A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000389986]|not provided [RCV001576225] Chr8:24952709 [GRCh38]
Chr8:24810222 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*1198G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000368106]|not provided [RCV004705461] Chr8:24951612 [GRCh38]
Chr8:24809125 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.*1155T>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000392666]|not provided [RCV004705462] Chr8:24951655 [GRCh38]
Chr8:24809168 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789666]|Charcot-Marie-Tooth disease type 2E [RCV001067080]|not provided [RCV000319997] Chr8:24956494 [GRCh38]
Chr8:24814008 [GRCh37]
Chr8:8p21.2		 pathogenic|uncertain significance
NM_006158.5(NEFL):c.487G>T (p.Glu163Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000408890] Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.*6del deletion not provided [RCV000487701] Chr8:24952804 [GRCh38]
Chr8:24810317 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.856G>T (p.Val286Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001367648] Chr8:24955660 [GRCh38]
Chr8:24813174 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1261C>A (p.Arg421=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000526896] Chr8:24953704 [GRCh38]
Chr8:24811218 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1044+20A>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002064374]|not specified [RCV000603215] Chr8:24955452 [GRCh38]
Chr8:24812966 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.*1342A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000399540] Chr8:24951468 [GRCh38]
Chr8:24808981 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*1744T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000347797] Chr8:24951066 [GRCh38]
Chr8:24808579 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*1349T>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000402325] Chr8:24951461 [GRCh38]
Chr8:24808974 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*856T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000366069] Chr8:24951954 [GRCh38]
Chr8:24809467 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*1609_*1612del deletion Charcot-Marie-Tooth disease, type I [RCV000284586] Chr8:24951198..24951201 [GRCh38]
Chr8:24808711..24808714 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*1340_*1342del deletion Charcot-Marie-Tooth disease, type I [RCV000336287] Chr8:24951468..24951470 [GRCh38]
Chr8:24808981..24808983 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*171C>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000351230] Chr8:24952639 [GRCh38]
Chr8:24810152 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*577T>C single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000321938] Chr8:24952233 [GRCh38]
Chr8:24809746 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.141G>A (p.Val47=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000322687]|Charcot-Marie-Tooth disease type 2E [RCV005090600] Chr8:24956375 [GRCh38]
Chr8:24813889 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.*1482C>T single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000342033] Chr8:24951328 [GRCh38]
Chr8:24808841 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.-68T>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV000377265] Chr8:24956583 [GRCh38]
Chr8:24814097 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*565del deletion Charcot-Marie-Tooth disease, type I [RCV000378901] Chr8:24952245 [GRCh38]
Chr8:24809758 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.593G>C (p.Gly198Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640660] Chr8:24955923 [GRCh38]
Chr8:24813437 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640663] Chr8:24954233 [GRCh38]
Chr8:24811747 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640666]|Inborn genetic diseases [RCV002440281] Chr8:24956246 [GRCh38]
Chr8:24813760 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
NM_006158.5(NEFL):c.520C>T (p.Leu174=) single nucleotide variant not provided [RCV000584847] Chr8:24955996 [GRCh38]
Chr8:24813510 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) indel Charcot-Marie-Tooth disease [RCV001172740]|Charcot-Marie-Tooth disease type 1F [RCV005049598]|Charcot-Marie-Tooth disease type 2E [RCV001081472]|Inborn genetic diseases [RCV000624055]|not provided [RCV000712412] Chr8:24956177..24956178 [GRCh38]
Chr8:24813691..24813692 [GRCh37]
Chr8:8p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006158.5(NEFL):c.1185C>T (p.Gly395=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640664]|not provided [RCV004597842] Chr8:24953780 [GRCh38]
Chr8:24811294 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_006158.5(NEFL):c.1045-2A>G single nucleotide variant not provided [RCV000524009] Chr8:24954307 [GRCh38]
Chr8:24811821 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001071579]|not provided [RCV000413716] Chr8:24956222 [GRCh38]
Chr8:24813736 [GRCh37]
Chr8:8p21.2		 likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000559005]|Inborn genetic diseases [RCV004023992]|not provided [RCV001755833] Chr8:24955720 [GRCh38]
Chr8:24813234 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006158.5(NEFL):c.1275C>T (p.Gly425=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640670]|not provided [RCV001534593]|not specified [RCV000423639] Chr8:24953690 [GRCh38]
Chr8:24811204 [GRCh37]
Chr8:8p21.2		 benign|likely benign
NM_006158.5(NEFL):c.855C>T (p.Thr285=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173053]|Charcot-Marie-Tooth disease type 2E [RCV000543296]|not provided [RCV001311326]|not specified [RCV000420823] Chr8:24955661 [GRCh38]
Chr8:24813175 [GRCh37]
Chr8:8p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006158.5(NEFL):c.-37A>C single nucleotide variant not specified [RCV000429034] Chr8:24956552 [GRCh38]
Chr8:24814066 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000531003]|Inborn genetic diseases [RCV002356586]|not provided [RCV001712264]|not specified [RCV000425861] Chr8:24955932 [GRCh38]
Chr8:24813446 [GRCh37]
Chr8:8p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006158.5(NEFL):c.1461G>A (p.Glu487=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000866122]|not specified [RCV000436338] Chr8:24953504 [GRCh38]
Chr8:24811017 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1011G>A (p.Glu337=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000868473]|not specified [RCV000433878] Chr8:24955505 [GRCh38]
Chr8:24813019 [GRCh37]
Chr8:8p21.2		 likely benign
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12		 pathogenic
NM_006158.5(NEFL):c.882C>A (p.Asn294Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000458831] Chr8:24955634 [GRCh38]
Chr8:24813148 [GRCh37]
Chr8:8p21.2		 uncertain significance
NC_000008.11:g.24956435_24956438delinsAGAA indel Charcot-Marie-Tooth disease type 2E [RCV000474144] Chr8:24956435..24956438 [GRCh38]
Chr8:24813949..24813952 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000470770] Chr8:24954281 [GRCh38]
Chr8:24811795 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1006C>G (p.Leu336Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173730]|Charcot-Marie-Tooth disease type 2E [RCV000456780] Chr8:24955510 [GRCh38]
Chr8:24813024 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.821A>G (p.Gln274Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000460408]|Inborn genetic diseases [RCV004022902] Chr8:24955695 [GRCh38]
Chr8:24813209 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.984G>T (p.Ala328=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000457056] Chr8:24955532 [GRCh38]
Chr8:24813046 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000465280]|Inborn genetic diseases [RCV002374815] Chr8:24955828 [GRCh38]
Chr8:24813342 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.207G>A (p.Glu69=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000466117] Chr8:24956309 [GRCh38]
Chr8:24813823 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000473439] Chr8:24952929 [GRCh38]
Chr8:24810442 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.579G>A (p.Met193Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000466337]|Inborn genetic diseases [RCV002356710]|not provided [RCV000999003] Chr8:24955937 [GRCh38]
Chr8:24813451 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
NM_006158.5(NEFL):c.1392G>A (p.Glu464=) single nucleotide variant not specified [RCV000505893] Chr8:24953573 [GRCh38]
Chr8:24811087 [GRCh37]
Chr8:8p21.2		 likely benign
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006158.5(NEFL):c.1080C>T (p.Thr360=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000868942]|not specified [RCV000600143] Chr8:24954270 [GRCh38]
Chr8:24811784 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.983C>A (p.Ala328Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000559816] Chr8:24955533 [GRCh38]
Chr8:24813047 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000541480] Chr8:24956273 [GRCh38]
Chr8:24813787 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1094T>C (p.Met365Thr) single nucleotide variant Inborn genetic diseases [RCV003281666] Chr8:24954256 [GRCh38]
Chr8:24811770 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.761T>C (p.Leu254Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640657] Chr8:24955755 [GRCh38]
Chr8:24813269 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857188]|Charcot-Marie-Tooth disease type 2E [RCV000640661]|Inborn genetic diseases [RCV002388071] Chr8:24953503 [GRCh38]
Chr8:24811016 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.352C>T (p.Leu118=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640673] Chr8:24956164 [GRCh38]
Chr8:24813678 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1240C>A (p.Gln414Lys) single nucleotide variant not provided [RCV003318043] Chr8:24953725 [GRCh38]
Chr8:24811239 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1284G>A (p.Gln428=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002531561]|Inborn genetic diseases [RCV002384349]|not specified [RCV000609903] Chr8:24953681 [GRCh38]
Chr8:24811195 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640662]|Inborn genetic diseases [RCV004025608] Chr8:24953625 [GRCh38]
Chr8:24811139 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1482G>A (p.Glu494=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514388]|not specified [RCV000608427] Chr8:24953483 [GRCh38]
Chr8:24810996 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.146C>T (p.Ser49Phe) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate G [RCV002289699]|not provided [RCV000512683] Chr8:24956370 [GRCh38]
Chr8:24813884 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1175T>A (p.Leu392His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640658]|not provided [RCV001090303] Chr8:24953790 [GRCh38]
Chr8:24811304 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640665]|not provided [RCV001756066] Chr8:24956299 [GRCh38]
Chr8:24813813 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000547572]|not provided [RCV000513137] Chr8:24953536 [GRCh38]
Chr8:24811049 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV002250649]|Charcot-Marie-Tooth disease type 2E [RCV005091170]|not provided [RCV000513356] Chr8:24953770 [GRCh38]
Chr8:24811284 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic
NM_006158.5(NEFL):c.353T>G (p.Leu118Arg) single nucleotide variant not provided [RCV000659102] Chr8:24956163 [GRCh38]
Chr8:24813677 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000699633] Chr8:24956494 [GRCh38]
Chr8:24814008 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p21.2(chr8:24314161-24933369)x3 copy number gain not provided [RCV000682989] Chr8:24314161..24933369 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
NM_006158.5(NEFL):c.608C>T (p.Ala203Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000686994] Chr8:24955908 [GRCh38]
Chr8:24813422 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1154A>T (p.Glu385Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688530] Chr8:24954196 [GRCh38]
Chr8:24811710 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688624]|Charcot-Marie-Tooth disease, dominant intermediate G [RCV002289963] Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.67C>G (p.Arg23Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000690223]|Inborn genetic diseases [RCV002360736] Chr8:24956449 [GRCh38]
Chr8:24813963 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.530G>T (p.Arg177Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688199] Chr8:24955986 [GRCh38]
Chr8:24813500 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.202C>G (p.Leu68Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005056460]|not provided [RCV000712411] Chr8:24956314 [GRCh38]
Chr8:24813828 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.58G>A (p.Glu20Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000703212] Chr8:24956458 [GRCh38]
Chr8:24813972 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000703803] Chr8:24955848 [GRCh38]
Chr8:24813362 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000692547] Chr8:24953632 [GRCh38]
Chr8:24811146 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1044+5G>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000697991]|Inborn genetic diseases [RCV004026422] Chr8:24955467 [GRCh38]
Chr8:24812981 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000689664]|Inborn genetic diseases [RCV002388223] Chr8:24955761 [GRCh38]
Chr8:24813275 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688987]|not provided [RCV000992440] Chr8:24956026 [GRCh38]
Chr8:24813540 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.289C>A (p.Leu97Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000697171] Chr8:24956227 [GRCh38]
Chr8:24813741 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.2(chr8:24677490-25061807)x3 copy number gain not provided [RCV000747481] Chr8:24677490..25061807 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.1414del (p.Ser472fs) deletion Charcot-Marie-Tooth disease [RCV000857189]|Distal spinal muscular atrophy [RCV000857190] Chr8:24953551 [GRCh38]
Chr8:24811064 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857192]|Charcot-Marie-Tooth disease, type I [RCV000857193]|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000857194] Chr8:24953635 [GRCh38]
Chr8:24811149 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.898G>A (p.Ala300Thr) single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000857199] Chr8:24955618 [GRCh38]
Chr8:24813132 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.280C>T (p.Leu94Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857202] Chr8:24956236 [GRCh38]
Chr8:24813750 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001866184]|not provided [RCV001585250] Chr8:24956099 [GRCh38]
Chr8:24813613 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003768297]|Inborn genetic diseases [RCV002397534]|not provided [RCV000762500] Chr8:24952857 [GRCh38]
Chr8:24810370 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1267G>C (p.Ala423Pro) single nucleotide variant not provided [RCV000762501] Chr8:24953698 [GRCh38]
Chr8:24811212 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1131C>T (p.Asn377=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001317297]|not provided [RCV000762502] Chr8:24954219 [GRCh38]
Chr8:24811733 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_006158.5(NEFL):c.*1153T>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001164322] Chr8:24951657 [GRCh38]
Chr8:24809170 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.4(NEFL):c.-258C>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001164539]|not provided [RCV004695067] Chr8:24956773 [GRCh38]
Chr8:24814287 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172735]|Charcot-Marie-Tooth disease type 2E [RCV001042062] Chr8:24956472 [GRCh38]
Chr8:24813986 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001044425] Chr8:24954250 [GRCh38]
Chr8:24811764 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001858751]|not provided [RCV000992441] Chr8:24955651 [GRCh38]
Chr8:24813165 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup) duplication Charcot-Marie-Tooth disease type 2E [RCV001060849] Chr8:24952904..24952905 [GRCh38]
Chr8:24810417..24810418 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.360C>T (p.Ala120=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000936579]|NEFL-related disorder [RCV003895695] Chr8:24956156 [GRCh38]
Chr8:24813670 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.36C>T (p.Thr12=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001409857] Chr8:24956480 [GRCh38]
Chr8:24813994 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.492C>G (p.Arg164=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001460445] Chr8:24956024 [GRCh38]
Chr8:24813538 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000809813]|not provided [RCV002462171] Chr8:24956073 [GRCh38]
Chr8:24813587 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup) duplication Charcot-Marie-Tooth disease type 2E [RCV000806705] Chr8:24955502..24955503 [GRCh38]
Chr8:24813016..24813017 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.816C>T (p.Asn272=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001460508] Chr8:24955700 [GRCh38]
Chr8:24813214 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1413del (p.Ser472fs) deletion Charcot-Marie-Tooth disease [RCV000857191] Chr8:24953552 [GRCh38]
Chr8:24811065 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857195] Chr8:24953729 [GRCh38]
Chr8:24811243 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1169+3G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000857197] Chr8:24954178 [GRCh38]
Chr8:24811692 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.598G>C (p.Asp200His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000793148] Chr8:24955918 [GRCh38]
Chr8:24813432 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001027485]|Charcot-Marie-Tooth disease type 2E [RCV000801161]|Inborn genetic diseases [RCV002386421] Chr8:24955773 [GRCh38]
Chr8:24813287 [GRCh37]
Chr8:8p21.2		 likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173040]|not provided [RCV000828359] Chr8:24956007 [GRCh38]
Chr8:24813521 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1302G>A (p.Met434Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000798685] Chr8:24953663 [GRCh38]
Chr8:24811177 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000811127] Chr8:24955500 [GRCh38]
Chr8:24813014 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.808G>T (p.Ala270Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000814107] Chr8:24955708 [GRCh38]
Chr8:24813222 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000807556] Chr8:24952902 [GRCh38]
Chr8:24810415 [GRCh37]
Chr8:8p21.2		 uncertain significance
NC_000008.10:g.(?_24810313)_(24814039_?)dup duplication Charcot-Marie-Tooth disease type 2E [RCV000801973] Chr8:24810313..24814039 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.4(NEFL):c.-176C>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001162499]|not provided [RCV000829710] Chr8:24956691 [GRCh38]
Chr8:24814205 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.3(NEFL):c.-374A>G single nucleotide variant not provided [RCV000826278] Chr8:24956889 [GRCh38]
Chr8:24814403 [GRCh37]
Chr8:8p21.2		 benign
NC_000008.10:g.(?_24810303)_(24814049_?)dup duplication Charcot-Marie-Tooth disease type 2E [RCV000808637] Chr8:24810303..24814049 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1044+46G>A single nucleotide variant not provided [RCV000833529] Chr8:24955426 [GRCh38]
Chr8:24812940 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172739]|Charcot-Marie-Tooth disease type 2E [RCV000800798] Chr8:24955879 [GRCh38]
Chr8:24813393 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000799169] Chr8:24956101 [GRCh38]
Chr8:24813615 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.192G>A (p.Leu64=) single nucleotide variant not specified [RCV000790246] Chr8:24956324 [GRCh38]
Chr8:24813838 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.1044+39G>C single nucleotide variant not provided [RCV000835480] Chr8:24955433 [GRCh38]
Chr8:24812947 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.1213G>A (p.Val405Met) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000800874] Chr8:24953752 [GRCh38]
Chr8:24811266 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.532T>A (p.Tyr178Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000813772] Chr8:24955984 [GRCh38]
Chr8:24813498 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg) indel Charcot-Marie-Tooth disease type 2E [RCV000820944] Chr8:24953525..24953527 [GRCh38]
Chr8:24811038..24811040 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.2(chr8:23501519-24907990)x1 copy number loss not provided [RCV000847303] Chr8:23501519..24907990 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001064956] Chr8:24954183 [GRCh38]
Chr8:24811697 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000792253] Chr8:24952908 [GRCh38]
Chr8:24810421 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000806836]|not provided [RCV004808885] Chr8:24953673 [GRCh38]
Chr8:24811187 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1032C>G (p.Ile344Met) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000822054] Chr8:24955484 [GRCh38]
Chr8:24812998 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1413_1414= (p.Pro471_Ser472=) variation Charcot-Marie-Tooth disease type 2E [RCV000860129] Chr8:24953551..24953552 [GRCh38]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000822636] Chr8:24953769 [GRCh38]
Chr8:24811283 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000808122] Chr8:24952914 [GRCh38]
Chr8:24810427 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1395A>G (p.Glu465=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001444835]|not provided [RCV000841552] Chr8:24953570 [GRCh38]
Chr8:24811084 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.528G>A (p.Ala176=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001444375] Chr8:24955988 [GRCh38]
Chr8:24813502 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1185C>G (p.Gly395=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001489614] Chr8:24953780 [GRCh38]
Chr8:24811294 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.677T>C (p.Val226Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000797873] Chr8:24955839 [GRCh38]
Chr8:24813353 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1044G>A (p.Gln348=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000812095] Chr8:24955472 [GRCh38]
Chr8:24812986 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857198]|Charcot-Marie-Tooth disease type 2E [RCV002256559] Chr8:24955479 [GRCh38]
Chr8:24812993 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs) deletion Charcot-Marie-Tooth disease [RCV001172728] Chr8:24955476..24955477 [GRCh38]
Chr8:24812990..24812991 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1489+6A>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001068663] Chr8:24953470 [GRCh38]
Chr8:24810983 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.431G>A (p.Arg144His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001772313]|not provided [RCV001090304] Chr8:24956085 [GRCh38]
Chr8:24813599 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001043675] Chr8:24956247 [GRCh38]
Chr8:24813761 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001046141] Chr8:24952830 [GRCh38]
Chr8:24810343 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.729C>A (p.Ile243=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001418917] Chr8:24955787 [GRCh38]
Chr8:24813301 [GRCh37]
Chr8:8p21.2		 likely benign
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006158.5(NEFL):c.837G>A (p.Trp279Ter) single nucleotide variant Peripheral neuropathy [RCV001836904] Chr8:24955679 [GRCh38]
Chr8:24813193 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172733]|Charcot-Marie-Tooth disease type 1F [RCV001162497]|Inborn genetic diseases [RCV001267223] Chr8:24956178 [GRCh38]
Chr8:24813692 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1		 pathogenic
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001045735] Chr8:24956023 [GRCh38]
Chr8:24813537 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001055974]|not provided [RCV004761908] Chr8:24953608 [GRCh38]
Chr8:24811122 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.73C>A (p.His25Asn) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001199118] Chr8:24956443 [GRCh38]
Chr8:24813957 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001071292] Chr8:24956226 [GRCh38]
Chr8:24813740 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001226290] Chr8:24955804 [GRCh38]
Chr8:24813318 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001226346] Chr8:24954205 [GRCh38]
Chr8:24811719 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001227469] Chr8:24956449 [GRCh38]
Chr8:24813963 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001221258]|Inborn genetic diseases [RCV002402674] Chr8:24952883 [GRCh38]
Chr8:24810396 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1104C>T (p.Tyr368=) single nucleotide variant not provided [RCV000999002] Chr8:24954246 [GRCh38]
Chr8:24811760 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.2(chr8:24677568-25116307)x3 copy number gain not provided [RCV001006091] Chr8:24677568..25116307 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.717G>A (p.Gln239=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001159513] Chr8:24955799 [GRCh38]
Chr8:24813313 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.339G>C (p.Gln113His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172732]|Charcot-Marie-Tooth disease type 1F [RCV001160887]|Inborn genetic diseases [RCV002451344] Chr8:24956177 [GRCh38]
Chr8:24813691 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NC_000008.10:g.(?_24810323)_(25892142_?)dup duplication not provided [RCV003105348] Chr8:24810323..25892142 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.460A>C (p.Thr154Pro) single nucleotide variant not provided [RCV001663505] Chr8:24956056 [GRCh38]
Chr8:24813570 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.682G>C (p.Glu228Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001907720]|Inborn genetic diseases [RCV002550329] Chr8:24955834 [GRCh38]
Chr8:24813348 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1408_1413= (p.Pro470_Pro471=) variation not specified [RCV001700941] Chr8:24953552..24953557 [GRCh38]
Chr8:24811066..24811071 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.390C>T (p.Ser130=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001503242] Chr8:24956126 [GRCh38]
Chr8:24813640 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.30C>T (p.Tyr10=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000975552] Chr8:24956486 [GRCh38]
Chr8:24814000 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.873C>T (p.Ala291=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001451046] Chr8:24955643 [GRCh38]
Chr8:24813157 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1578G>A (p.Glu526=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001418414] Chr8:24952864 [GRCh38]
Chr8:24810377 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001245297]|not provided [RCV001751493] Chr8:24955795 [GRCh38]
Chr8:24813309 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.614C>T (p.Ala205Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001243684] Chr8:24955902 [GRCh38]
Chr8:24813416 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.558G>A (p.Glu186=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001160884] Chr8:24955958 [GRCh38]
Chr8:24813472 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001040850]|Inborn genetic diseases [RCV002552496] Chr8:24956472 [GRCh38]
Chr8:24813986 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001209530]|not provided [RCV001806046] Chr8:24955487 [GRCh38]
Chr8:24813001 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001237944] Chr8:24953506 [GRCh38]
Chr8:24811019 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173042]|Inborn genetic diseases [RCV002375051] Chr8:24955549 [GRCh38]
Chr8:24813063 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1027_1029del (p.Asp343del) deletion Charcot-Marie-Tooth disease type 1F [RCV001196092] Chr8:24955487..24955489 [GRCh38]
Chr8:24813001..24813003 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001238054] Chr8:24956226 [GRCh38]
Chr8:24813740 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.420G>A (p.Glu140=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173049]|Charcot-Marie-Tooth disease type 2E [RCV001452943] Chr8:24956096 [GRCh38]
Chr8:24813610 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.638T>C (p.Ile213Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001563582] Chr8:24955878 [GRCh38]
Chr8:24813392 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1124T>A (p.Leu375His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629257]|not provided [RCV003233366] Chr8:24954226 [GRCh38]
Chr8:24811740 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001036442] Chr8:24953640 [GRCh38]
Chr8:24811154 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*1383C>T single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001160678] Chr8:24951427 [GRCh38]
Chr8:24808940 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1611A>G (p.Gln537=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173045]|Charcot-Marie-Tooth disease type 2E [RCV002067844] Chr8:24952831 [GRCh38]
Chr8:24810344 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1170-19C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173050]|Charcot-Marie-Tooth disease type 2E [RCV002558746] Chr8:24953814 [GRCh38]
Chr8:24811328 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1169+14G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173057]|Charcot-Marie-Tooth disease type 2E [RCV002557483] Chr8:24954167 [GRCh38]
Chr8:24811681 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.4(NEFL):c.-183C>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001162500] Chr8:24956698 [GRCh38]
Chr8:24814212 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001057141] Chr8:24953614 [GRCh38]
Chr8:24811128 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001057496] Chr8:24956484 [GRCh38]
Chr8:24813998 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001044900] Chr8:24956301 [GRCh38]
Chr8:24813815 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001045752]|not provided [RCV002286804] Chr8:24956007 [GRCh38]
Chr8:24813521 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001046341] Chr8:24955489 [GRCh38]
Chr8:24813003 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172729] Chr8:24955975 [GRCh38]
Chr8:24813489 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) insertion Charcot-Marie-Tooth disease [RCV001172731] Chr8:24955522..24955523 [GRCh38]
Chr8:24813036..24813037 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172737]|Charcot-Marie-Tooth disease type 2E [RCV001873600]|not provided [RCV001664725] Chr8:24953769 [GRCh38]
Chr8:24811283 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*2C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172738]|not provided [RCV002225803] Chr8:24952808 [GRCh38]
Chr8:24810321 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1086G>A (p.Lys362=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173733]|Charcot-Marie-Tooth disease type 2E [RCV001400518] Chr8:24954264 [GRCh38]
Chr8:24811778 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.507G>A (p.Glu169=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174355] Chr8:24956009 [GRCh38]
Chr8:24813523 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001160885] Chr8:24955976 [GRCh38]
Chr8:24813490 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.516C>T (p.Arg172=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001160886] Chr8:24956000 [GRCh38]
Chr8:24813514 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002570763]|not provided [RCV001567604] Chr8:24955868 [GRCh38]
Chr8:24813382 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172734]|Charcot-Marie-Tooth disease type 2E [RCV003514468] Chr8:24956281 [GRCh38]
Chr8:24813795 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.678G>T (p.Val226=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173046] Chr8:24955838 [GRCh38]
Chr8:24813352 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.630G>A (p.Glu210=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173055]|Charcot-Marie-Tooth disease type 2E [RCV003514469] Chr8:24955886 [GRCh38]
Chr8:24813400 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.612C>T (p.Leu204=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173731]|Charcot-Marie-Tooth disease type 2E [RCV002068092] Chr8:24955904 [GRCh38]
Chr8:24813418 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173043]|Charcot-Marie-Tooth disease type 2E [RCV005056986] Chr8:24953720 [GRCh38]
Chr8:24811234 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173056]|Charcot-Marie-Tooth disease type 2E [RCV002558747]|Inborn genetic diseases [RCV002445409]|NEFL-related disorder [RCV003898167] Chr8:24956430 [GRCh38]
Chr8:24813944 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1490-193C>T single nucleotide variant not provided [RCV001589731] Chr8:24953145 [GRCh38]
Chr8:24810658 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005057542]|not provided [RCV003132527]|not specified [RCV001663506] Chr8:24955888 [GRCh38]
Chr8:24813402 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.486C>T (p.Gly162=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001071850] Chr8:24956030 [GRCh38]
Chr8:24813544 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1044+149G>C single nucleotide variant not provided [RCV001590057] Chr8:24955323 [GRCh38]
Chr8:24812837 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001233407] Chr8:24956302 [GRCh38]
Chr8:24813816 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001219999] Chr8:24953618 [GRCh38]
Chr8:24811132 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.4(NEFL):c.-248C>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001162501] Chr8:24956763 [GRCh38]
Chr8:24814277 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001209013] Chr8:24955671 [GRCh38]
Chr8:24813185 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001209079] Chr8:24955897 [GRCh38]
Chr8:24813411 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172736]|Charcot-Marie-Tooth disease type 2E [RCV001343717] Chr8:24953689 [GRCh38]
Chr8:24811203 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172742] Chr8:24953772 [GRCh38]
Chr8:24811286 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del) microsatellite Charcot-Marie-Tooth disease [RCV001172743] Chr8:24955503..24955505 [GRCh38]
Chr8:24813017..24813019 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) indel Charcot-Marie-Tooth disease [RCV001172730] Chr8:24955512..24955517 [GRCh38]
Chr8:24813026..24813031 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172741]|Charcot-Marie-Tooth disease type 2E [RCV003769849] Chr8:24956212 [GRCh38]
Chr8:24813726 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001164444]|Charcot-Marie-Tooth disease type 2E [RCV001882527]|Inborn genetic diseases [RCV002393376] Chr8:24953557 [GRCh38]
Chr8:24811071 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del) microsatellite Charcot-Marie-Tooth disease type 2E [RCV001218356]|Inborn genetic diseases [RCV002402654] Chr8:24952911..24952913 [GRCh38]
Chr8:24810424..24810426 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173039]|Charcot-Marie-Tooth disease type 2E [RCV005093732] Chr8:24954227 [GRCh38]
Chr8:24811741 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001231942] Chr8:24954301 [GRCh38]
Chr8:24811815 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001159512]|Charcot-Marie-Tooth disease type 2E [RCV001207087]|Inborn genetic diseases [RCV002379661] Chr8:24953650 [GRCh38]
Chr8:24811164 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.*1101G>A single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001164323] Chr8:24951709 [GRCh38]
Chr8:24809222 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*1464A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001160677] Chr8:24951346 [GRCh38]
Chr8:24808859 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.*436T>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001160772] Chr8:24952374 [GRCh38]
Chr8:24809887 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.564C>G (p.Ala188=) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001160883]|Charcot-Marie-Tooth disease type 2E [RCV001423733] Chr8:24955952 [GRCh38]
Chr8:24813466 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.*1293A>G single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001162289] Chr8:24951517 [GRCh38]
Chr8:24809030 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.943_948dup (p.Lys315_Thr316dup) duplication Charcot-Marie-Tooth disease, dominant intermediate G [RCV001310256] Chr8:24955567..24955568 [GRCh38]
Chr8:24813081..24813082 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.781A>G (p.Ile261Val) single nucleotide variant not provided [RCV001812377] Chr8:24955735 [GRCh38]
Chr8:24813249 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.68G>C (p.Arg23Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001316574] Chr8:24956448 [GRCh38]
Chr8:24813962 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006158.5(NEFL):c.487G>A (p.Glu163Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001319668] Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001808008] Chr8:24956498 [GRCh38]
Chr8:24814012 [GRCh37]
Chr8:8p21.2		 pathogenic|likely pathogenic
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002542991]|Inborn genetic diseases [RCV002375331]|not provided [RCV001288257] Chr8:24955634 [GRCh38]
Chr8:24813148 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001342188] Chr8:24952815 [GRCh38]
Chr8:24810328 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.509C>A (p.Thr170Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001296142] Chr8:24956007 [GRCh38]
Chr8:24813521 [GRCh37]
Chr8:8p21.2		 uncertain significance
NC_000008.10:g.(?_24810313)_(24811829_?)del deletion Charcot-Marie-Tooth disease type 2E [RCV001314366] Chr8:24810313..24811829 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1356C>G (p.Ile452Met) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001321435] Chr8:24953609 [GRCh38]
Chr8:24811123 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del) microsatellite Charcot-Marie-Tooth disease type 2E [RCV001327016] Chr8:24952893..24952895 [GRCh38]
Chr8:24810406..24810408 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1428C>T (p.Ala476=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001394720] Chr8:24953537 [GRCh38]
Chr8:24811050 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV001353164] Chr8:24956462 [GRCh38]
Chr8:24813976 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.220A>T (p.Ser74Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001299391] Chr8:24956296 [GRCh38]
Chr8:24813810 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1160C>A (p.Ala387Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001359250] Chr8:24954190 [GRCh38]
Chr8:24811704 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001313029] Chr8:24952845 [GRCh38]
Chr8:24810358 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.769G>A (p.Ala257Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001303246] Chr8:24955747 [GRCh38]
Chr8:24813261 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005094335]|not provided [RCV001813009] Chr8:24952940 [GRCh38]
Chr8:24810453 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1190A>G (p.Glu397Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001360918] Chr8:24953775 [GRCh38]
Chr8:24811289 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.767C>T (p.Ala256Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001347410] Chr8:24955749 [GRCh38]
Chr8:24813263 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del) microsatellite Charcot-Marie-Tooth disease type 2E [RCV001351429] Chr8:24955613..24955615 [GRCh38]
Chr8:24813127..24813129 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.569G>T (p.Gly190Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001352587] Chr8:24955947 [GRCh38]
Chr8:24813461 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp) single nucleotide variant not provided [RCV001288256] Chr8:24952888 [GRCh38]
Chr8:24810401 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001295755]|not provided [RCV001751560] Chr8:24953700 [GRCh38]
Chr8:24811214 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514502]|not provided [RCV001507725] Chr8:24952910 [GRCh38]
Chr8:24810423 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.64C>G (p.Pro22Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001359155] Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.48G>A (p.Arg16=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001396103] Chr8:24956468 [GRCh38]
Chr8:24813982 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001366066]|Inborn genetic diseases [RCV002377535] Chr8:24955648 [GRCh38]
Chr8:24813162 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.621C>T (p.Ala207=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001429560] Chr8:24955895 [GRCh38]
Chr8:24813409 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.903C>T (p.Ala301=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001474857] Chr8:24955613 [GRCh38]
Chr8:24813127 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.147C>G (p.Ser49=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001400830] Chr8:24956369 [GRCh38]
Chr8:24813883 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.906G>A (p.Lys302=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001420001] Chr8:24955610 [GRCh38]
Chr8:24813124 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.945G>A (p.Lys315=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001430444] Chr8:24955571 [GRCh38]
Chr8:24813085 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1251G>A (p.Gln417=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001393275] Chr8:24953714 [GRCh38]
Chr8:24811228 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.436C>T (p.Leu146=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001429122] Chr8:24956080 [GRCh38]
Chr8:24813594 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1320G>T (p.Pro440=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001442433] Chr8:24953645 [GRCh38]
Chr8:24811159 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.957C>A (p.Ile319=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001402679] Chr8:24955559 [GRCh38]
Chr8:24813073 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1044+9C>A single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001404070] Chr8:24955463 [GRCh38]
Chr8:24812977 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1320G>A (p.Pro440=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001438515] Chr8:24953645 [GRCh38]
Chr8:24811159 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002539681]|not provided [RCV001682660] Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2		 likely pathogenic|uncertain significance
NM_006158.5(NEFL):c.597C>T (p.Ala199=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001502227] Chr8:24955919 [GRCh38]
Chr8:24813433 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.891C>T (p.Ala297=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001487997] Chr8:24955625 [GRCh38]
Chr8:24813139 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.372G>A (p.Val124=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001496167] Chr8:24956144 [GRCh38]
Chr8:24813658 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1428C>G (p.Ala476=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001496832] Chr8:24953537 [GRCh38]
Chr8:24811050 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1608A>G (p.Glu536=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001430218] Chr8:24952834 [GRCh38]
Chr8:24810347 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1099C>T (p.Arg367Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001387360] Chr8:24954251 [GRCh38]
Chr8:24811765 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1284G>C (p.Gln428His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005057584]|Inborn genetic diseases [RCV004040188]|not provided [RCV001765609] Chr8:24953681 [GRCh38]
Chr8:24811195 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.598G>T (p.Asp200Tyr) single nucleotide variant not provided [RCV001774595] Chr8:24955918 [GRCh38]
Chr8:24813432 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys) single nucleotide variant not provided [RCV001765276] Chr8:24952863 [GRCh38]
Chr8:24810376 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002544069]|not provided [RCV001765481] Chr8:24955900 [GRCh38]
Chr8:24813414 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1142C>T (p.Ala381Val) single nucleotide variant not provided [RCV001752860] Chr8:24954208 [GRCh38]
Chr8:24811722 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1482G>T (p.Glu494Asp) single nucleotide variant not provided [RCV001786840] Chr8:24953483 [GRCh38]
Chr8:24810996 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.197C>T (p.Pro66Leu) single nucleotide variant Inborn genetic diseases [RCV003382649]|not provided [RCV001816491] Chr8:24956319 [GRCh38]
Chr8:24813833 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1054A>C (p.Asn352His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001928961]|Inborn genetic diseases [RCV002397921] Chr8:24954296 [GRCh38]
Chr8:24811810 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002008473] Chr8:24955696 [GRCh38]
Chr8:24813210 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.834A>G (p.Glu278=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001949698] Chr8:24955682 [GRCh38]
Chr8:24813196 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1412C>A (p.Pro471His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002044928] Chr8:24953553 [GRCh38]
Chr8:24811067 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002002154]|Inborn genetic diseases [RCV002334961] Chr8:24956032 [GRCh38]
Chr8:24813546 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001891690]|Inborn genetic diseases [RCV002554254] Chr8:24955642 [GRCh38]
Chr8:24813156 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.2(chr8:24221648-24947015)x3 copy number gain not provided [RCV001829105] Chr8:24221648..24947015 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.797A>T (p.Glu266Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001968085] Chr8:24955719 [GRCh38]
Chr8:24813233 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup) microsatellite Charcot-Marie-Tooth disease type 2E [RCV001985230] Chr8:24952910..24952911 [GRCh38]
Chr8:24810423..24810424 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1310G>A (p.Arg437His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002041097]|Inborn genetic diseases [RCV002386923]|not provided [RCV003883742] Chr8:24953655 [GRCh38]
Chr8:24811169 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001909156] Chr8:24953622 [GRCh38]
Chr8:24811136 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001948781] Chr8:24955721 [GRCh38]
Chr8:24813235 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.26A>G (p.Tyr9Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002042117] Chr8:24956490 [GRCh38]
Chr8:24814004 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001948416]|Inborn genetic diseases [RCV002560689] Chr8:24952847 [GRCh38]
Chr8:24810360 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.603G>T (p.Glu201Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001895698] Chr8:24955913 [GRCh38]
Chr8:24813427 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.22C>G (p.Pro8Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001969489] Chr8:24956494 [GRCh38]
Chr8:24814008 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.876C>T (p.Ala292=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001949233] Chr8:24955640 [GRCh38]
Chr8:24813154 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.390C>G (p.Ser130=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001984121] Chr8:24956126 [GRCh38]
Chr8:24813640 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001926509] Chr8:24952824 [GRCh38]
Chr8:24810337 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002023755] Chr8:24952930 [GRCh38]
Chr8:24810443 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.79T>C (p.Ser27Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001961779] Chr8:24956437 [GRCh38]
Chr8:24813951 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV002466713]|Charcot-Marie-Tooth disease type 2E [RCV001943168] Chr8:24956254 [GRCh38]
Chr8:24813768 [GRCh37]
Chr8:8p21.2		 pathogenic|uncertain significance
NM_006158.5(NEFL):c.973A>G (p.Met325Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001940378] Chr8:24955543 [GRCh38]
Chr8:24813057 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002020053] Chr8:24953794 [GRCh38]
Chr8:24811308 [GRCh37]
Chr8:8p21.2		 uncertain significance
NC_000008.10:g.(?_24810323)_(24814029_?)dup duplication Charcot-Marie-Tooth disease type 2E [RCV004583268] Chr8:24810323..24814029 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002012648] Chr8:24956182 [GRCh38]
Chr8:24813696 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001943633] Chr8:24952884 [GRCh38]
Chr8:24810397 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer) indel Charcot-Marie-Tooth disease type 2E [RCV001995536] Chr8:24956452..24956454 [GRCh38]
Chr8:24813966..24813968 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1441_1443del (p.Lys481del) deletion Charcot-Marie-Tooth disease type 2E [RCV001897722]|Inborn genetic diseases [RCV002388767] Chr8:24953522..24953524 [GRCh38]
Chr8:24811035..24811037 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs) deletion Charcot-Marie-Tooth disease type 2E [RCV001993835] Chr8:24953647..24953764 [GRCh38]
Chr8:24811161..24811278 [GRCh37]
Chr8:8p21.2		 pathogenic|uncertain significance
NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002046082]|Inborn genetic diseases [RCV002386933] Chr8:24953656 [GRCh38]
Chr8:24811170 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.377G>A (p.Arg126His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001867849]|Inborn genetic diseases [RCV002343927] Chr8:24956139 [GRCh38]
Chr8:24813653 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.690G>C (p.Glu230Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002026320] Chr8:24955826 [GRCh38]
Chr8:24813340 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.870C>G (p.Ser290Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001933277] Chr8:24955646 [GRCh38]
Chr8:24813160 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.55G>A (p.Val19Met) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001918818] Chr8:24956461 [GRCh38]
Chr8:24813975 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001955319] Chr8:24952913 [GRCh38]
Chr8:24810426 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001920221] Chr8:24953785 [GRCh38]
Chr8:24811299 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1379C>T (p.Ala460Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001870444] Chr8:24953586 [GRCh38]
Chr8:24811100 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001931023] Chr8:24952937 [GRCh38]
Chr8:24810450 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001899568] Chr8:24953650 [GRCh38]
Chr8:24811164 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.216C>A (p.Asp72Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001924206] Chr8:24956300 [GRCh38]
Chr8:24813814 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001917576] Chr8:24953508 [GRCh38]
Chr8:24811021 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001981034]|Inborn genetic diseases [RCV004651898] Chr8:24953692 [GRCh38]
Chr8:24811206 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.925C>T (p.Arg309Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002019370] Chr8:24955591 [GRCh38]
Chr8:24813105 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1458C>G (p.Ala486=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001931251] Chr8:24953507 [GRCh38]
Chr8:24811020 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001999365] Chr8:24954193 [GRCh38]
Chr8:24811707 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001879507]|NEFL-related disorder [RCV004757486] Chr8:24953638 [GRCh38]
Chr8:24811152 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1170-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001867683] Chr8:24953798 [GRCh38]
Chr8:24811312 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1380T>C (p.Ala460=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002073667] Chr8:24953585 [GRCh38]
Chr8:24811099 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.219G>A (p.Leu73=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002110787] Chr8:24956297 [GRCh38]
Chr8:24813811 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.174C>T (p.Ser58=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002146719]|not specified [RCV004999648] Chr8:24956342 [GRCh38]
Chr8:24813856 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1059A>G (p.Lys353=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002128434] Chr8:24954291 [GRCh38]
Chr8:24811805 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.1045-17T>A single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002116641] Chr8:24954322 [GRCh38]
Chr8:24811836 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.63G>T (p.Thr21=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002096282] Chr8:24956453 [GRCh38]
Chr8:24813967 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.264G>A (p.Thr88=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002151130] Chr8:24956252 [GRCh38]
Chr8:24813766 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.936C>T (p.Leu312=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002212369] Chr8:24955580 [GRCh38]
Chr8:24813094 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1169+8T>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002100609] Chr8:24954173 [GRCh38]
Chr8:24811687 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1044+16A>G single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002144414] Chr8:24955456 [GRCh38]
Chr8:24812970 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.777G>A (p.Lys259=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002121572] Chr8:24955739 [GRCh38]
Chr8:24813253 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1044+19C>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002202476] Chr8:24955453 [GRCh38]
Chr8:24812967 [GRCh37]
Chr8:8p21.2		 likely benign
NC_000008.10:g.(?_24810323)_(25892142_?)del deletion Charcot-Marie-Tooth disease type 2E [RCV003116533] Chr8:24810323..25892142 [GRCh37]
Chr8:8p21.2		 pathogenic
NC_000008.10:g.(?_24810323)_(24811839_?)del deletion Charcot-Marie-Tooth disease type 2E [RCV003116534] Chr8:24810323..24811839 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1339G>T (p.Val447Phe) single nucleotide variant not provided [RCV004777031] Chr8:24953626 [GRCh38]
Chr8:24811140 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.506dup (p.Thr170fs) duplication Charcot-Marie-Tooth disease type 2E [RCV002250135] Chr8:24956009..24956010 [GRCh38]
Chr8:24813523..24813524 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002250136] Chr8:24956462 [GRCh38]
Chr8:24813976 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.307A>T (p.Ser103Cys) single nucleotide variant not provided [RCV003129016] Chr8:24956209 [GRCh38]
Chr8:24813723 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1038T>C (p.Ala346=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629207]|not provided [RCV002263474] Chr8:24955478 [GRCh38]
Chr8:24812992 [GRCh37]
Chr8:8p21.2		 likely benign
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_006158.5(NEFL):c.447G>A (p.Ala149=) single nucleotide variant not provided [RCV002263475] Chr8:24956069 [GRCh38]
Chr8:24813583 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.796G>C (p.Glu266Gln) single nucleotide variant Charcot-Marie-Tooth disease, dominant intermediate G [RCV002289106] Chr8:24955720 [GRCh38]
Chr8:24813234 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.370_372dup (p.Val124_Leu125insVal) duplication Inborn genetic diseases [RCV002348924] Chr8:24956143..24956144 [GRCh38]
Chr8:24813657..24813658 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.281T>A (p.Leu94His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629209]|Charcot-Marie-Tooth disease, axonal, type 2EE [RCV002288386] Chr8:24956235 [GRCh38]
Chr8:24813749 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514622]|not provided [RCV003237194] Chr8:24953703 [GRCh38]
Chr8:24811217 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
NM_006158.5(NEFL):c.299G>C (p.Arg100Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514590]|Inborn genetic diseases [RCV002435589] Chr8:24956217 [GRCh38]
Chr8:24813731 [GRCh37]
Chr8:8p21.2		 uncertain significance
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_006158.5(NEFL):c.1459G>A (p.Glu487Lys) single nucleotide variant Peripheral neuropathy [RCV002267191] Chr8:24953506 [GRCh38]
Chr8:24811019 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.134C>T (p.Ala45Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002297547] Chr8:24956382 [GRCh38]
Chr8:24813896 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1317C>A (p.Phe439Leu) single nucleotide variant Inborn genetic diseases [RCV002385589] Chr8:24953648 [GRCh38]
Chr8:24811162 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003775537]|not provided [RCV002474336] Chr8:24956009 [GRCh38]
Chr8:24813523 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.2(chr8:24709967-24924326)x3 copy number gain not provided [RCV002474745] Chr8:24709967..24924326 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002571514]|Inborn genetic diseases [RCV004064261]|not provided [RCV002474334] Chr8:24955912 [GRCh38]
Chr8:24813426 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003775536]|not provided [RCV002474335] Chr8:24956118 [GRCh38]
Chr8:24813632 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.259C>T (p.Arg87Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003128298] Chr8:24956257 [GRCh38]
Chr8:24813771 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.66C>T (p.Pro22=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002571515]|not provided [RCV002474337] Chr8:24956450 [GRCh38]
Chr8:24813964 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1576G>C (p.Glu526Gln) single nucleotide variant Inborn genetic diseases [RCV002405728] Chr8:24952866 [GRCh38]
Chr8:24810379 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.229G>C (p.Ala77Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002295017] Chr8:24956287 [GRCh38]
Chr8:24813801 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.85G>T (p.Val29Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005097264]|Inborn genetic diseases [RCV002447992] Chr8:24956431 [GRCh38]
Chr8:24813945 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1571A>G (p.Glu524Gly) single nucleotide variant Inborn genetic diseases [RCV002405658] Chr8:24952871 [GRCh38]
Chr8:24810384 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.596C>T (p.Ala199Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003098081]|Inborn genetic diseases [RCV002356080] Chr8:24955920 [GRCh38]
Chr8:24813434 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1493C>T (p.Ala498Val) single nucleotide variant Inborn genetic diseases [RCV002389748] Chr8:24952949 [GRCh38]
Chr8:24810462 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.308G>T (p.Ser103Ile) single nucleotide variant Inborn genetic diseases [RCV002325788] Chr8:24956208 [GRCh38]
Chr8:24813722 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1382C>T (p.Ala461Val) single nucleotide variant Inborn genetic diseases [RCV002381196] Chr8:24953583 [GRCh38]
Chr8:24811097 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1309C>G (p.Arg437Gly) single nucleotide variant Inborn genetic diseases [RCV002381031] Chr8:24953656 [GRCh38]
Chr8:24811170 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.834A>T (p.Glu278Asp) single nucleotide variant Inborn genetic diseases [RCV002434691] Chr8:24955682 [GRCh38]
Chr8:24813196 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.149C>T (p.Ser50Leu) single nucleotide variant Inborn genetic diseases [RCV002389869] Chr8:24956367 [GRCh38]
Chr8:24813881 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1005G>C (p.Glu335Asp) single nucleotide variant Inborn genetic diseases [RCV002408244] Chr8:24955511 [GRCh38]
Chr8:24813025 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1175T>G (p.Leu392Arg) single nucleotide variant Inborn genetic diseases [RCV002328245] Chr8:24953790 [GRCh38]
Chr8:24811304 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1366G>A (p.Glu456Lys) single nucleotide variant Inborn genetic diseases [RCV002383593] Chr8:24953599 [GRCh38]
Chr8:24811113 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.662C>T (p.Ser221Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003098315]|Inborn genetic diseases [RCV002375906] Chr8:24955854 [GRCh38]
Chr8:24813368 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1015A>C (p.Lys339Gln) single nucleotide variant Inborn genetic diseases [RCV002340092] Chr8:24955501 [GRCh38]
Chr8:24813015 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.316G>A (p.Glu106Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002299122] Chr8:24956200 [GRCh38]
Chr8:24813714 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.734T>C (p.Val245Ala) single nucleotide variant Inborn genetic diseases [RCV002380246] Chr8:24955782 [GRCh38]
Chr8:24813296 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.330G>C (p.Glu110Asp) single nucleotide variant Inborn genetic diseases [RCV002326299] Chr8:24956186 [GRCh38]
Chr8:24813700 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.872C>T (p.Ala291Val) single nucleotide variant Inborn genetic diseases [RCV002373497] Chr8:24955644 [GRCh38]
Chr8:24813158 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002299747]|Inborn genetic diseases [RCV002363757] Chr8:24954197 [GRCh38]
Chr8:24811711 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.997C>G (p.Leu333Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629221]|Inborn genetic diseases [RCV002383009] Chr8:24955519 [GRCh38]
Chr8:24813033 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer) deletion Charcot-Marie-Tooth disease type 2E [RCV003013181] Chr8:24953693 [GRCh38]
Chr8:24811207 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002970693] Chr8:24955723 [GRCh38]
Chr8:24813237 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.531C>T (p.Arg177=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003016826] Chr8:24955985 [GRCh38]
Chr8:24813499 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.873C>A (p.Ala291=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003076596] Chr8:24955643 [GRCh38]
Chr8:24813157 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.799_803del (p.Lys267fs) deletion Charcot-Marie-Tooth disease type 2E [RCV002614426] Chr8:24955713..24955717 [GRCh38]
Chr8:24813227..24813231 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.648G>A (p.Leu216=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002819196] Chr8:24955868 [GRCh38]
Chr8:24813382 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1125C>T (p.Leu375=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003032496] Chr8:24954225 [GRCh38]
Chr8:24811739 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.105C>T (p.Thr35=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002953620] Chr8:24956411 [GRCh38]
Chr8:24813925 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003081737]|Inborn genetic diseases [RCV003069231] Chr8:24956022 [GRCh38]
Chr8:24813536 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002846163] Chr8:24954214 [GRCh38]
Chr8:24811728 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.738G>A (p.Glu246=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002800227] Chr8:24955778 [GRCh38]
Chr8:24813292 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003019804] Chr8:24955507 [GRCh38]
Chr8:24813021 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1044+2T>G single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002620475] Chr8:24955470 [GRCh38]
Chr8:24812984 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.705G>A (p.Gln235=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002866398] Chr8:24955811 [GRCh38]
Chr8:24813325 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del) deletion Charcot-Marie-Tooth disease type 2E [RCV002866830] Chr8:24956230..24956241 [GRCh38]
Chr8:24813744..24813755 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.634C>T (p.Arg212Cys) single nucleotide variant not provided [RCV002510102] Chr8:24955882 [GRCh38]
Chr8:24813396 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.78C>A (p.Ile26=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002795169] Chr8:24956438 [GRCh38]
Chr8:24813952 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.4(NEFL):c.1414= variation Charcot-Marie-Tooth disease type 2E [RCV002756794] Chr8:24811065 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.786C>T (p.Arg262=) single nucleotide variant Peripheral neuropathy [RCV002569456] Chr8:24955730 [GRCh38]
Chr8:24813244 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.139G>T (p.Val47Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005099656]|Inborn genetic diseases [RCV002783311]|not provided [RCV003130875] Chr8:24956377 [GRCh38]
Chr8:24813891 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.940G>A (p.Ala314Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002622583] Chr8:24955576 [GRCh38]
Chr8:24813090 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002569582] Chr8:24954273 [GRCh38]
Chr8:24811787 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.789G>A (p.Ala263=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003038314] Chr8:24955727 [GRCh38]
Chr8:24813241 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.200G>A (p.Ser67Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003037888] Chr8:24956316 [GRCh38]
Chr8:24813830 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.832del (p.Glu278fs) deletion Charcot-Marie-Tooth disease type 2E [RCV002736069] Chr8:24955684 [GRCh38]
Chr8:24813198 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003037286] Chr8:24954184 [GRCh38]
Chr8:24811698 [GRCh37]
Chr8:8p21.2		 likely pathogenic
NM_006158.5(NEFL):c.1044+15G>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002625105] Chr8:24955457 [GRCh38]
Chr8:24812971 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003108169]|Inborn genetic diseases [RCV002697582] Chr8:24955935 [GRCh38]
Chr8:24813449 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1386G>A (p.Lys462=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002957544] Chr8:24953579 [GRCh38]
Chr8:24811093 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.867G>C (p.Glu289Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003022173] Chr8:24955649 [GRCh38]
Chr8:24813163 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003006294] Chr8:24954223 [GRCh38]
Chr8:24811737 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.918C>T (p.Ser306=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003081878] Chr8:24955598 [GRCh38]
Chr8:24813112 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.551G>A (p.Ser184Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003057409] Chr8:24955965 [GRCh38]
Chr8:24813479 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.163C>T (p.Arg55Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005099853]|Inborn genetic diseases [RCV002929492] Chr8:24956353 [GRCh38]
Chr8:24813867 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002666875] Chr8:24953553 [GRCh38]
Chr8:24811067 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.935T>C (p.Leu312Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003024892] Chr8:24955581 [GRCh38]
Chr8:24813095 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.74_88del (p.His25_Val29del) deletion Charcot-Marie-Tooth disease type 2E [RCV002770526] Chr8:24956428..24956442 [GRCh38]
Chr8:24813942..24813956 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.489G>A (p.Glu163=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002922408]|not specified [RCV004999830] Chr8:24956027 [GRCh38]
Chr8:24813541 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.985C>G (p.Leu329Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002600392] Chr8:24955531 [GRCh38]
Chr8:24813045 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1326C>T (p.Tyr442=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002650535] Chr8:24953639 [GRCh38]
Chr8:24811153 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.709C>G (p.Gln237Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002649531] Chr8:24955807 [GRCh38]
Chr8:24813321 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del) deletion Charcot-Marie-Tooth disease type 2E [RCV003011579] Chr8:24955520..24956041 [GRCh38]
Chr8:24813034..24813555 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs) microsatellite Charcot-Marie-Tooth disease type 2E [RCV002602467]|not provided [RCV004775298] Chr8:24952939..24952940 [GRCh38]
Chr8:24810452..24810453 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.126C>G (p.Ser42Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002962937] Chr8:24956390 [GRCh38]
Chr8:24813904 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1128C>A (p.Leu376=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003048972] Chr8:24954222 [GRCh38]
Chr8:24811736 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.649A>C (p.Met217Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002676905] Chr8:24955867 [GRCh38]
Chr8:24813381 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.104C>T (p.Thr35Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003052631] Chr8:24956412 [GRCh38]
Chr8:24813926 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.263C>A (p.Thr88Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003072051] Chr8:24956253 [GRCh38]
Chr8:24813767 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.491G>A (p.Arg164His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002588397] Chr8:24956025 [GRCh38]
Chr8:24813539 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1248C>T (p.Ser416=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003050234] Chr8:24953717 [GRCh38]
Chr8:24811231 [GRCh37]
Chr8:8p21.2		 likely benign|uncertain significance
NM_006158.5(NEFL):c.1181A>G (p.Glu394Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002814350] Chr8:24953784 [GRCh38]
Chr8:24811298 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.767C>G (p.Ala256Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002814501] Chr8:24955749 [GRCh38]
Chr8:24813263 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.958G>A (p.Glu320Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002607859] Chr8:24955558 [GRCh38]
Chr8:24813072 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.193A>G (p.Met65Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV002610309]|Inborn genetic diseases [RCV004068796] Chr8:24956323 [GRCh38]
Chr8:24813837 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1357G>T (p.Glu453Ter) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV004788354] Chr8:24953608 [GRCh38]
Chr8:24811122 [GRCh37]
Chr8:8p21.2		 pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 copy number loss not provided [RCV003223292] Chr8:21925038..26372195 [GRCh37]
Chr8:8p21.3-21.2		 likely pathogenic
NM_006158.5(NEFL):c.400C>T (p.Arg134Cys) single nucleotide variant Tip-toe gait [RCV003319600] Chr8:24956116 [GRCh38]
Chr8:24813630 [GRCh37]
Chr8:8p21.2		 likely pathogenic|no classifications from unflagged records
NM_006158.5(NEFL):c.137C>G (p.Pro46Arg) single nucleotide variant not provided [RCV003318782] Chr8:24956379 [GRCh38]
Chr8:24813893 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.292A>C (p.Asn98His) single nucleotide variant not provided [RCV003327199] Chr8:24956224 [GRCh38]
Chr8:24813738 [GRCh37]
Chr8:8p21.2		 likely pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
NM_006158.5(NEFL):c.726G>C (p.Gln242His) single nucleotide variant not provided [RCV003329023] Chr8:24955790 [GRCh38]
Chr8:24813304 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.311T>G (p.Phe104Cys) single nucleotide variant Charcot-Marie-Tooth disease type 1F [RCV003338223] Chr8:24956205 [GRCh38]
Chr8:24813719 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1438G>A (p.Glu480Lys) single nucleotide variant not provided [RCV003481871] Chr8:24953527 [GRCh38]
Chr8:24811040 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
NM_006158.5(NEFL):c.760del (p.Leu254fs) deletion Auditory neuropathy [RCV003484487] Chr8:24955756 [GRCh38]
Chr8:24813270 [GRCh37]
Chr8:8p21.2		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
NM_006158.5(NEFL):c.194T>C (p.Met65Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629277]|not provided [RCV003436814] Chr8:24956322 [GRCh38]
Chr8:24813836 [GRCh37]
Chr8:8p21.2		 uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_006158.5(NEFL):c.621C>A (p.Ala207=) single nucleotide variant not provided [RCV003436812] Chr8:24955895 [GRCh38]
Chr8:24813409 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.311T>C (p.Phe104Ser) single nucleotide variant not provided [RCV003436813] Chr8:24956205 [GRCh38]
Chr8:24813719 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003445469] Chr8:24956224 [GRCh38]
Chr8:24813738 [GRCh37]
Chr8:8p21.2		 pathogenic|conflicting interpretations of pathogenicity
NM_006158.5(NEFL):c.1332del (p.Ser445fs) deletion Charcot-Marie-Tooth disease type 2E [RCV003515378] Chr8:24953633 [GRCh38]
Chr8:24811147 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.682G>A (p.Glu228Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630573] Chr8:24955834 [GRCh38]
Chr8:24813348 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.287A>T (p.Asp96Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629666] Chr8:24956229 [GRCh38]
Chr8:24813743 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.503A>G (p.Glu168Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514092] Chr8:24956013 [GRCh38]
Chr8:24813527 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.210C>T (p.Asn70=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630740] Chr8:24956306 [GRCh38]
Chr8:24813820 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514029]|Inborn genetic diseases [RCV004654253] Chr8:24952866 [GRCh38]
Chr8:24810379 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.598G>A (p.Asp200Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629956] Chr8:24955918 [GRCh38]
Chr8:24813432 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.288C>T (p.Asp96=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514160] Chr8:24956228 [GRCh38]
Chr8:24813742 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.818T>C (p.Met273Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003515869] Chr8:24955698 [GRCh38]
Chr8:24813212 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.993G>A (p.Lys331=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630871] Chr8:24955523 [GRCh38]
Chr8:24813037 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.422A>C (p.Gln141Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003628671] Chr8:24956094 [GRCh38]
Chr8:24813608 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.636C>T (p.Arg212=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003881631] Chr8:24955880 [GRCh38]
Chr8:24813394 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.586C>A (p.Arg196Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003515619] Chr8:24955930 [GRCh38]
Chr8:24813444 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del) deletion Charcot-Marie-Tooth disease type 2E [RCV003630641] Chr8:24955571..24955576 [GRCh38]
Chr8:24813085..24813090 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1097C>T (p.Ala366Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003516238] Chr8:24954253 [GRCh38]
Chr8:24811767 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003878498] Chr8:24956487 [GRCh38]
Chr8:24814001 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003516310] Chr8:24954200 [GRCh38]
Chr8:24811714 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630353] Chr8:24952845 [GRCh38]
Chr8:24810358 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1240dup (p.Gln414fs) duplication Charcot-Marie-Tooth disease type 2E [RCV003630688] Chr8:24953724..24953725 [GRCh38]
Chr8:24811238..24811239 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1156A>G (p.Ile386Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003515087] Chr8:24954194 [GRCh38]
Chr8:24811708 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630929]|Inborn genetic diseases [RCV004371834] Chr8:24955498 [GRCh38]
Chr8:24813012 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.46C>T (p.Arg16Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629320] Chr8:24956470 [GRCh38]
Chr8:24813984 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.932T>C (p.Leu311Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003516311] Chr8:24955584 [GRCh38]
Chr8:24813098 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.331C>G (p.Leu111Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630006] Chr8:24956185 [GRCh38]
Chr8:24813699 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630060] Chr8:24956407 [GRCh38]
Chr8:24813921 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003515481] Chr8:24955548 [GRCh38]
Chr8:24813062 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.370G>A (p.Val124Met) single nucleotide variant not provided [RCV003488140] Chr8:24956146 [GRCh38]
Chr8:24813660 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1026C>A (p.Ala342=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003515780] Chr8:24955490 [GRCh38]
Chr8:24813004 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003628922] Chr8:24952917 [GRCh38]
Chr8:24810430 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1080C>A (p.Thr360=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003829582] Chr8:24954270 [GRCh38]
Chr8:24811784 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.609G>T (p.Ala203=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629063] Chr8:24955907 [GRCh38]
Chr8:24813421 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.594C>G (p.Gly198=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629064] Chr8:24955922 [GRCh38]
Chr8:24813436 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629733] Chr8:24955983 [GRCh38]
Chr8:24813497 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.615T>C (p.Ala205=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629062] Chr8:24955901 [GRCh38]
Chr8:24813415 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629783] Chr8:24953494 [GRCh38]
Chr8:24811007 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1489+17C>G single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003516251] Chr8:24953459 [GRCh38]
Chr8:24810972 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.763T>C (p.Ser255Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629095] Chr8:24955753 [GRCh38]
Chr8:24813267 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.108A>G (p.Ala36=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629065] Chr8:24956408 [GRCh38]
Chr8:24813922 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.841A>G (p.Lys281Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629599] Chr8:24955675 [GRCh38]
Chr8:24813189 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.114A>T (p.Ser38=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629649] Chr8:24956402 [GRCh38]
Chr8:24813916 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.54C>T (p.Tyr18=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629650] Chr8:24956462 [GRCh38]
Chr8:24813976 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630196] Chr8:24954184 [GRCh38]
Chr8:24811698 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1236C>T (p.Tyr412=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003516585] Chr8:24953729 [GRCh38]
Chr8:24811243 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.94G>C (p.Gly32Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629719] Chr8:24956422 [GRCh38]
Chr8:24813936 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629577] Chr8:24953718 [GRCh38]
Chr8:24811232 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.514C>T (p.Arg172Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630222] Chr8:24956002 [GRCh38]
Chr8:24813516 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1045-14T>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630232] Chr8:24954319 [GRCh38]
Chr8:24811833 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.48G>C (p.Arg16=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629651] Chr8:24956468 [GRCh38]
Chr8:24813982 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1514C>T (p.Ala505Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629951] Chr8:24952928 [GRCh38]
Chr8:24810441 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.88C>A (p.Arg30Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629024] Chr8:24956428 [GRCh38]
Chr8:24813942 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.748A>C (p.Thr250Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629051] Chr8:24955768 [GRCh38]
Chr8:24813282 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.639C>T (p.Ile213=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629088] Chr8:24955877 [GRCh38]
Chr8:24813391 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1489+16A>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003514258] Chr8:24953460 [GRCh38]
Chr8:24810973 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.556G>C (p.Glu186Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003630107] Chr8:24955960 [GRCh38]
Chr8:24813474 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.236T>A (p.Ile79Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629338] Chr8:24956280 [GRCh38]
Chr8:24813794 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.865_871del (p.Glu289fs) deletion Charcot-Marie-Tooth disease type 2E [RCV003881959] Chr8:24955645..24955651 [GRCh38]
Chr8:24813159..24813165 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.864C>A (p.Thr288=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003881960] Chr8:24955652 [GRCh38]
Chr8:24813166 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1050G>A (p.Thr350=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003629485] Chr8:24954300 [GRCh38]
Chr8:24811814 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.836G>T (p.Trp279Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003631052] Chr8:24955680 [GRCh38]
Chr8:24813194 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003851781] Chr8:24954303 [GRCh38]
Chr8:24811817 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.616C>A (p.Arg206Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005055435] Chr8:24955900 [GRCh38]
Chr8:24813414 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1490-7G>A single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005062430] Chr8:24952959 [GRCh38]
Chr8:24810472 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003851780] Chr8:24954285 [GRCh38]
Chr8:24811799 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1169+20G>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003814759] Chr8:24954161 [GRCh38]
Chr8:24811675 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003818679] Chr8:24956151 [GRCh38]
Chr8:24813665 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1365G>A (p.Glu455=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003863725] Chr8:24953600 [GRCh38]
Chr8:24811114 [GRCh37]
Chr8:8p21.2		 likely benign
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 copy number loss not specified [RCV003986748] Chr8:23754939..30219110 [GRCh37]
Chr8:8p21.2-12		 pathogenic
NM_006158.5(NEFL):c.194T>G (p.Met65Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003847828] Chr8:24956322 [GRCh38]
Chr8:24813836 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_006158.5(NEFL):c.542A>C (p.Glu181Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV003858707] Chr8:24955974 [GRCh38]
Chr8:24813488 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.843G>T (p.Lys281Asn) single nucleotide variant Inborn genetic diseases [RCV004485585] Chr8:24955673 [GRCh38]
Chr8:24813187 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.228A>G (p.Val76=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005103018]|NEFL-related disorder [RCV003967004] Chr8:24956288 [GRCh38]
Chr8:24813802 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1483G>A (p.Glu495Lys) single nucleotide variant Inborn genetic diseases [RCV004485512] Chr8:24953482 [GRCh38]
Chr8:24810995 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.504G>A (p.Glu168=) single nucleotide variant NEFL-related disorder [RCV003969459] Chr8:24956012 [GRCh38]
Chr8:24813526 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.650T>G (p.Met217Arg) single nucleotide variant Inborn genetic diseases [RCV004485567] Chr8:24955866 [GRCh38]
Chr8:24813380 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.84C>T (p.Ser28=) single nucleotide variant NEFL-related disorder [RCV003954759] Chr8:24956432 [GRCh38]
Chr8:24813946 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.282C>T (p.Leu94=) single nucleotide variant NEFL-related disorder [RCV003921786] Chr8:24956234 [GRCh38]
Chr8:24813748 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.627C>T (p.Leu209=) single nucleotide variant NEFL-related disorder [RCV003962084] Chr8:24955889 [GRCh38]
Chr8:24813403 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1504T>A (p.Ser502Thr) single nucleotide variant Inborn genetic diseases [RCV004485519] Chr8:24952938 [GRCh38]
Chr8:24810451 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.328G>A (p.Glu110Lys) single nucleotide variant Inborn genetic diseases [RCV004485543] Chr8:24956188 [GRCh38]
Chr8:24813702 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.892G>A (p.Val298Met) single nucleotide variant Inborn genetic diseases [RCV004485589] Chr8:24955624 [GRCh38]
Chr8:24813138 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.610C>T (p.Leu204Phe) single nucleotide variant not provided [RCV004592063] Chr8:24955906 [GRCh38]
Chr8:24813420 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1535G>A (p.Gly512Asp) single nucleotide variant Inborn genetic diseases [RCV004641470] Chr8:24952907 [GRCh38]
Chr8:24810420 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.116C>G (p.Ala39Gly) single nucleotide variant Inborn genetic diseases [RCV004654708] Chr8:24956400 [GRCh38]
Chr8:24813914 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.613G>A (p.Ala205Thr) single nucleotide variant Inborn genetic diseases [RCV004654704] Chr8:24955903 [GRCh38]
Chr8:24813417 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1412C>T (p.Pro471Leu) single nucleotide variant Inborn genetic diseases [RCV004654706] Chr8:24953553 [GRCh38]
Chr8:24811067 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.77T>A (p.Ile26Asn) single nucleotide variant Inborn genetic diseases [RCV004654707] Chr8:24956439 [GRCh38]
Chr8:24813953 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.836G>A (p.Trp279Ter) single nucleotide variant not provided [RCV004775872] Chr8:24955680 [GRCh38]
Chr8:24813194 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.55G>C (p.Val19Leu) single nucleotide variant not provided [RCV004772209] Chr8:24956461 [GRCh38]
Chr8:24813975 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.313A>T (p.Ile105Phe) single nucleotide variant not provided [RCV004727477] Chr8:24956203 [GRCh38]
Chr8:24813717 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.884C>T (p.Thr295Ile) single nucleotide variant Inborn genetic diseases [RCV004961583] Chr8:24955632 [GRCh38]
Chr8:24813146 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.62C>G (p.Thr21Arg) single nucleotide variant Inborn genetic diseases [RCV004961584] Chr8:24956454 [GRCh38]
Chr8:24813968 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.454G>A (p.Asp152Asn) single nucleotide variant not provided [RCV005000975] Chr8:24956062 [GRCh38]
Chr8:24813576 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1044+4C>G single nucleotide variant not provided [RCV004997780] Chr8:24955468 [GRCh38]
Chr8:24812982 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.161_162delinsTT (p.Arg54Leu) indel not provided [RCV004997584] Chr8:24956354..24956355 [GRCh38]
Chr8:24813868..24813869 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.199A>C (p.Ser67Arg) single nucleotide variant not provided [RCV005000846] Chr8:24956317 [GRCh38]
Chr8:24813831 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1 copy number loss not provided [RCV004819357] Chr8:158049..24812752 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
NM_006158.5(NEFL):c.81C>A (p.Ser27=) single nucleotide variant not provided [RCV005000950] Chr8:24956435 [GRCh38]
Chr8:24813949 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.549G>C (p.Leu183=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005175672] Chr8:24955967 [GRCh38]
Chr8:24813481 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.428T>G (p.Ile143Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005065731] Chr8:24956088 [GRCh38]
Chr8:24813602 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.653A>C (p.Asp218Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005172041] Chr8:24955863 [GRCh38]
Chr8:24813377 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.449C>T (p.Ala150Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005172742] Chr8:24956067 [GRCh38]
Chr8:24813581 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.339G>T (p.Gln113His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005170361] Chr8:24956177 [GRCh38]
Chr8:24813691 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.223C>T (p.Gln75Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005206853] Chr8:24956293 [GRCh38]
Chr8:24813807 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.285G>C (p.Gln95His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005139563] Chr8:24956231 [GRCh38]
Chr8:24813745 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.858G>A (p.Val286=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005070282] Chr8:24955658 [GRCh38]
Chr8:24813172 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1044+14A>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005132235] Chr8:24955458 [GRCh38]
Chr8:24812972 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1170-16G>A single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005197383] Chr8:24953811 [GRCh38]
Chr8:24811325 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1169+12G>A single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005158728] Chr8:24954169 [GRCh38]
Chr8:24811683 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1044+10G>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005194761] Chr8:24955462 [GRCh38]
Chr8:24812976 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1200C>G (p.Leu400=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005126881] Chr8:24953765 [GRCh38]
Chr8:24811279 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.171C>G (p.Tyr57Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005122893] Chr8:24956345 [GRCh38]
Chr8:24813859 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1045-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005129659] Chr8:24954308 [GRCh38]
Chr8:24811822 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1272C>T (p.Tyr424=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005118621] Chr8:24953693 [GRCh38]
Chr8:24811207 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.819G>T (p.Met273Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005193575] Chr8:24955697 [GRCh38]
Chr8:24813211 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.439C>T (p.Arg147Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005116957] Chr8:24956077 [GRCh38]
Chr8:24813591 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.395C>G (p.Pro132Arg) single nucleotide variant not provided [RCV005207515] Chr8:24956121 [GRCh38]
Chr8:24813635 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1342C>A (p.Gln448Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005165675] Chr8:24953623 [GRCh38]
Chr8:24811137 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1319C>G (p.Pro440Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005112196] Chr8:24953646 [GRCh38]
Chr8:24811160 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.756C>T (p.Pro252=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005193698] Chr8:24955760 [GRCh38]
Chr8:24813274 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1559C>A (p.Thr520Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005080021] Chr8:24952883 [GRCh38]
Chr8:24810396 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.264G>C (p.Thr88=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005192037] Chr8:24956252 [GRCh38]
Chr8:24813766 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.643A>G (p.Ser215Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005167058] Chr8:24955873 [GRCh38]
Chr8:24813387 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1426G>T (p.Ala476Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005186587] Chr8:24953539 [GRCh38]
Chr8:24811052 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.720C>G (p.Tyr240Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005117302] Chr8:24955796 [GRCh38]
Chr8:24813310 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.417C>A (p.Tyr139Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005190053] Chr8:24956099 [GRCh38]
Chr8:24813613 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.1082C>T (p.Thr361Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005165603] Chr8:24954268 [GRCh38]
Chr8:24811782 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1444G>A (p.Asp482Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005108786] Chr8:24953521 [GRCh38]
Chr8:24811034 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.450G>A (p.Ala150=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005190092] Chr8:24956066 [GRCh38]
Chr8:24813580 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1489+16dup duplication Charcot-Marie-Tooth disease type 2E [RCV005193305] Chr8:24953459..24953460 [GRCh38]
Chr8:24810972..24810973 [GRCh37]
Chr8:8p21.2		 benign
NM_006158.5(NEFL):c.231C>T (p.Ala77=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005165899] Chr8:24956285 [GRCh38]
Chr8:24813799 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1226C>G (p.Thr409Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005166046] Chr8:24953739 [GRCh38]
Chr8:24811253 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.568G>A (p.Gly190Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005134106] Chr8:24955948 [GRCh38]
Chr8:24813462 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1044+17A>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005150368] Chr8:24955455 [GRCh38]
Chr8:24812969 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.59A>C (p.Glu20Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005199927] Chr8:24956457 [GRCh38]
Chr8:24813971 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.798G>A (p.Glu266=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005070644] Chr8:24955718 [GRCh38]
Chr8:24813232 [GRCh37]
Chr8:8p21.2		 likely benign
NM_006158.5(NEFL):c.1127T>G (p.Leu376Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005151130] Chr8:24954223 [GRCh38]
Chr8:24811737 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.1019A>G (p.Gln340Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005128829] Chr8:24955497 [GRCh38]
Chr8:24813011 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.389C>G (p.Ser130Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005073933] Chr8:24956127 [GRCh38]
Chr8:24813641 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_006158.5(NEFL):c.556G>T (p.Glu186Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV005200677] Chr8:24955960 [GRCh38]
Chr8:24813474 [GRCh37]
Chr8:8p21.2		 pathogenic
NM_006158.5(NEFL):c.600_623dup (p.Ala207_Glu208insAspGluAlaAlaLeuAlaArgAla) duplication Charcot-Marie-Tooth disease type 2E [RCV005129225] Chr8:24955892..24955893 [GRCh38]
Chr8:24813406..24813407 [GRCh37]
Chr8:8p21.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:189
Count of miRNA genes:184
Interacting mature miRNAs:188
Transcripts:ENST00000221169
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human

Markers in Region
WI-13419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,808,486 - 24,808,621UniSTSGRCh37
Build 36824,864,403 - 24,864,538RGDNCBI36
Celera823,772,911 - 23,773,046RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,353,253 - 23,353,388UniSTS
GeneMap99-GB4 RH Map8104.2UniSTS
Whitehead-RH Map8104.5UniSTS
NCBI RH Map8283.7UniSTS
Nfl  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera823,774,509 - 23,774,700RGD
HuRef823,354,851 - 23,355,042UniSTS
GDB:181541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,813,267 - 24,813,751UniSTSGRCh37
Build 36824,869,184 - 24,869,668RGDNCBI36
Celera823,777,692 - 23,778,176RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,358,034 - 23,358,518UniSTS
RH71170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,809,952 - 24,810,137UniSTSGRCh37
Build 36824,865,869 - 24,866,054RGDNCBI36
Celera823,774,377 - 23,774,562RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,354,719 - 23,354,904UniSTS
GeneMap99-GB4 RH Map8103.98UniSTS
STS-R51365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,809,924 - 24,810,139UniSTSGRCh37
Build 36824,865,841 - 24,866,056RGDNCBI36
Celera823,774,349 - 23,774,564RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,354,691 - 23,354,906UniSTS
GeneMap99-GB4 RH Map8103.6UniSTS
RH120868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,808,962 - 24,809,107UniSTSGRCh37
Build 36824,864,879 - 24,865,024RGDNCBI36
Celera823,773,387 - 23,773,532RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,353,729 - 23,353,874UniSTS
TNG Radiation Hybrid Map813169.0UniSTS
WI-16152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,814,479 - 24,814,578UniSTSGRCh37
Build 36824,870,396 - 24,870,495RGDNCBI36
Celera823,778,904 - 23,779,003RGD
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map8p21UniSTS
HuRef823,359,246 - 23,359,345UniSTS
GeneMap99-GB4 RH Map8103.34UniSTS
Whitehead-RH Map8104.5UniSTS
SHGC-6135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,814,678 - 24,814,823UniSTSGRCh37
Build 36824,870,595 - 24,870,740RGDNCBI36
Celera823,779,103 - 23,779,242RGD
Cytogenetic Map8p21UniSTS
HuRef823,359,445 - 23,359,584UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map81309.0UniSTS
MARC_16719-16720:1018026557:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,813,034 - 24,813,494UniSTSGRCh37
Build 36824,868,951 - 24,869,411RGDNCBI36
Celera823,777,459 - 23,777,919RGD
HuRef823,357,801 - 23,358,261UniSTS
Nefl  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,810,119 - 24,811,093UniSTSGRCh37
Celera823,774,544 - 23,775,517UniSTS
HuRef823,354,886 - 23,355,859UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1079 2237 2622 2023 4819 1342 1754 1 335 1284 190 2144 5667 5421 35 3646 584 1465 1315 154

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY082067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY156690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ720008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA195749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA222123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S40729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S42443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000610854   ⟹   ENSP00000482169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,950,955 - 24,956,612 (-)Ensembl
Ensembl Acc Id: ENST00000615973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,955,225 - 24,956,721 (-)Ensembl
Ensembl Acc Id: ENST00000619417   ⟹   ENSP00000483690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,952,380 - 24,956,612 (-)Ensembl
Ensembl Acc Id: ENST00000639464   ⟹   ENSP00000491612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,950,958 - 24,956,515 (-)Ensembl
RefSeq Acc Id: NM_006158   ⟹   NP_006149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38824,950,955 - 24,956,612 (-)NCBI
GRCh37824,808,468 - 24,814,383 (-)NCBI
Build 36824,864,385 - 24,870,043 (-)NCBI Archive
HuRef823,353,235 - 23,359,150 (-)NCBI
CHM1_1825,010,797 - 25,016,712 (-)NCBI
T2T-CHM13v2.0825,226,443 - 25,232,101 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006149   ⟸   NM_006158
- UniProtKB: Q16154 (UniProtKB/Swiss-Prot),   B9ZVN2 (UniProtKB/Swiss-Prot),   Q8IU72 (UniProtKB/Swiss-Prot),   P07196 (UniProtKB/Swiss-Prot),   B3KQI5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000482169   ⟸   ENST00000610854
Ensembl Acc Id: ENSP00000491612   ⟸   ENST00000639464
Ensembl Acc Id: ENSP00000483690   ⟸   ENST00000619417
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07196-F1-model_v2 AlphaFold P07196 1-543 view protein structure

Promoters
RGD ID:6806894
Promoter ID:HG_KWN:60947
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:ENST00000221169,   NM_006158,   UC003XEE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36824,869,884 - 24,870,384 (-)MPROMDB
RGD ID:6849500
Promoter ID:EP26019
Type:single initiation site
Name:HS_NEFL
Description:Neurofilament light chain.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:neurons
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36824,870,047 - 24,870,107EPD
RGD ID:7212901
Promoter ID:EPDNEW_H12196
Type:initiation region
Name:NEFL_1
Description:neurofilament light
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38824,956,612 - 24,956,672EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7739 AgrOrtholog
COSMIC NEFL COSMIC
Ensembl Genes ENSG00000277586 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000610854 ENTREZGENE
  ENST00000610854.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
GTEx ENSG00000277586 GTEx
HGNC ID HGNC:7739 ENTREZGENE
Human Proteome Map NEFL Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot
  IF_rod_dom UniProtKB/Swiss-Prot
  Intermed_filament_DNA-bd UniProtKB/Swiss-Prot
  Intermediate_filament UniProtKB/Swiss-Prot
KEGG Report hsa:4747 UniProtKB/Swiss-Prot
NCBI Gene 4747 ENTREZGENE
OMIM 162280 OMIM
PANTHER GLIAL FIBRILLARY ACIDIC PROTEIN UniProtKB/Swiss-Prot
  PTHR45652:SF8 UniProtKB/Swiss-Prot
Pfam Filament UniProtKB/Swiss-Prot
  Filament_head UniProtKB/Swiss-Prot
PharmGKB PA31542 PharmGKB
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
UniProt A0A0S2Z436_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4B1_HUMAN UniProtKB/TrEMBL
  B3KQI5 ENTREZGENE, UniProtKB/TrEMBL
  B9ZVN2 ENTREZGENE
  I6L9F6_HUMAN UniProtKB/TrEMBL
  NFL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16154 ENTREZGENE
  Q7Z5R4_HUMAN UniProtKB/TrEMBL
  Q8IU72 ENTREZGENE
UniProt Secondary B9ZVN2 UniProtKB/Swiss-Prot
  Q16154 UniProtKB/Swiss-Prot
  Q8IU72 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-29 NEFL  neurofilament light chain  NEFL  neurofilament light  Symbol and/or name change 19259463 PROVISIONAL
2016-12-13 NEFL  neurofilament light  NEFL  neurofilament, light polypeptide  Symbol and/or name change 5135510 APPROVED