NEFL (neurofilament light) - Rat Genome Database
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Gene: NEFL (neurofilament light) Homo sapiens
Analyze
Symbol: NEFL
Name: neurofilament light
RGD ID: 1344238
HGNC Page HGNC
Description: Exhibits identical protein binding activity and protein C-terminus binding activity. Involved in axonal transport and neurofilament bundle assembly. Localizes to axon and neurofilament. Implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 68 kDa neurofilament protein; CMT1F; CMT2E; CMTDIG; FLJ53642; light molecular weight neurofilament protein; 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 Genes
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
GRCh38.p13 Ensembl824,950,955 - 24,956,721 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl824,950,955 - 24,957,110 (-)EnsemblGRCh38hg38GRCh38
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,383 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37824,808,468 - 24,814,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (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)
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)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
aluminium sulfate (anhydrous)  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Brodifacoum  (ISO)
bucladesine  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
Calpeptin  (ISO)
calyculin a  (ISO)
carbon disulfide  (ISO)
chloroethene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
cycloheximide  (ISO)
cyfluthrin  (EXP)
cypermethrin  (EXP)
daidzein 7-O-beta-D-glucoside  (ISO)
dantrolene  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
furan  (ISO)
glyburide  (ISO)
Heptachlor epoxide  (ISO)
hydrogen sulfide  (ISO)
indometacin  (ISO)
isotretinoin  (EXP)
ketamine  (ISO)
KN-93  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leupeptin  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methylmercury chloride  (EXP,ISO)
N-Nitrosopyrrolidine  (EXP)
nifedipine  (ISO)
O-methyleugenol  (EXP)
ouabain  (EXP)
panobinostat  (EXP)
paraquat  (ISO)
parathion  (ISO)
PCB138  (ISO)
pentanal  (EXP)
phenylmercury acetate  (EXP)
propanal  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
staurosporine  (ISO)
sunitinib  (EXP)
terbutaline  (ISO)
tetrachloroethene  (ISO)
thioacetamide  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
U-73122  (ISO)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
verapamil  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
Z-Val-Phe-H  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
2. Ehler J, etal., PLoS One. 2019 Jan 24;14(1):e0211184. doi: 10.1371/journal.pone.0211184. eCollection 2019.
3. Ferrero AJ, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2007 Oct 1;31(7):1419-28. Epub 2007 Jun 26.
4. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
5. GOA_HUMAN data from the GO Consortium
6. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
7. Kong J and Xu Z, Neurosci Lett. 2000 Mar 3;281(1):72-4.
8. Li J, etal., Brain Behav. 2019 Aug;9(8):e01354. doi: 10.1002/brb3.1354. Epub 2019 Jul 17.
9. Mages B, etal., Front Cell Neurosci. 2018 Jun 18;12:161. doi: 10.3389/fncel.2018.00161. eCollection 2018.
10. Menke RA, etal., Ann Clin Transl Neurol. 2015 Jul;2(7):748-55. doi: 10.1002/acn3.212. Epub 2015 May 25.
11. Norgren N, etal., Brain Res Bull. 2005 Oct 30;67(4):264-8.
12. OMIM Disease Annotation Pipeline
13. Paz MM, etal., J Nutr. 1991 Sep;121(9):1349-54. doi: 10.1093/jn/121.9.1349.
14. Pierson CR, etal., J Neuropathol Exp Neurol. 2003 Mar;62(3):260-71.
15. Pipeline to import KEGG annotations from KEGG into RGD
16. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. RGD automated import pipeline for gene-chemical interactions
18. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Schenker M, etal., Brain Res. 2002 Dec 13;957(2):259-70.
20. Shen ZX, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Aug;33(8):693-9.
21. Tsuda M, etal., J Neurochem. 2000 Feb;74(2):860-8.
22. Yaremko ML, etal., Genes Chromosomes Cancer. 1996 Jul;16(3):189-95.
23. Zamoner A, etal., Neurotoxicology. 2008 Nov;29(6):1092-9. doi: 10.1016/j.neuro.2008.09.004. Epub 2008 Sep 18.
24. 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:21860087  
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: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:30761586   PMID:30776989   PMID:30786919   PMID:30951523  
PMID:31123861   PMID:31129709   PMID:31151840   PMID:31182505   PMID:31199010   PMID:31295725   PMID:31383792   PMID:31391242   PMID:31420461   PMID:31514172   PMID:31516913   PMID:31586073  
PMID:31640103   PMID:31701893   PMID:31802104   PMID:31898161   PMID:31944090   PMID:32096416   PMID:32203420   PMID:32296183   PMID:32376155   PMID:32587320   PMID:32814053   PMID:32877691  
PMID:33001583  


Genomics

Comparative Map Data
NEFL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl824,950,955 - 24,956,721 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl824,950,955 - 24,957,110 (-)EnsemblGRCh38hg38GRCh38
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,383 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37824,808,468 - 24,814,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
Nefl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391468,321,312 - 68,326,544 (+)NCBIGRCm39mm39
GRCm381468,083,863 - 68,089,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1468,083,863 - 68,089,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv371468,701,941 - 68,705,802 (+)NCBIGRCm37mm9NCBIm37
MGSCv361467,037,214 - 67,041,075 (+)NCBImm8
Celera1465,851,013 - 65,854,872 (+)NCBICelera
Cytogenetic Map14D1NCBI
Nefl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21542,301,920 - 42,305,793 (+)NCBI
Rnor_6.0 Ensembl1544,799,334 - 44,804,574 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01544,799,378 - 44,803,251 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01546,793,526 - 46,797,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41547,636,303 - 47,640,176 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1821,134,533 - 21,140,694 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl821,134,533 - 21,140,694 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0824,218,510 - 24,224,627 (-)NCBIMhudiblu_PPA_v0panPan3
NEFL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2532,463,452 - 32,467,224 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12532,463,361 - 32,468,965 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Nefl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049367571,642,122 - 1,646,499 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEFL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl148,990,750 - 8,997,300 (-)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1823,077,085 - 23,083,213 (-)NCBI
ChlSab1.1 Ensembl823,077,086 - 23,083,222 (-)Ensembl
Nefl
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475820,063,109 - 20,068,459 (-)NCBI

Position Markers
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

miRNA Target Status

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 19 1
Medium 250 5 151 2 23 2 237 52 2547 49 47 71 3 39
Low 1467 338 333 22 356 12 1393 668 1011 69 639 164 14 68 1157
Below cutoff 520 2418 858 311 905 176 2437 1270 69 59 496 1078 137 1011 1426 1

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
  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

Reference Sequences
RefSeq Acc Id: ENST00000610854   ⟹   ENSP00000482169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl824,950,955 - 24,956,612 (-)Ensembl
RefSeq Acc Id: ENST00000615973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl824,955,225 - 24,956,721 (-)Ensembl
RefSeq Acc Id: ENST00000619417   ⟹   ENSP00000483690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl824,952,380 - 24,956,612 (-)Ensembl
RefSeq Acc Id: ENST00000639464   ⟹   ENSP00000491612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006149   ⟸   NM_006158
- UniProtKB: P07196 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000482169   ⟸   ENST00000610854
RefSeq Acc Id: ENSP00000491612   ⟸   ENST00000639464
RefSeq Acc Id: ENSP00000483690   ⟸   ENST00000619417
Protein Domains
IF rod

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006158.4(NEFL):c.1026C>G (p.Ala342=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000549995]|not specified [RCV000608783] Chr8:24955490 [GRCh38]
Chr8:24813004 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173732]|Charcot-Marie-Tooth disease type 2E [RCV000554848] Chr8:24955934 [GRCh38]
Chr8:24813448 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) indel not specified [RCV000516180] Chr8:24953493..24953494 [GRCh38]
Chr8:24811006..24811007 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857201]|Charcot-Marie-Tooth disease type 2E [RCV000554079]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034136]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV001027680]|Charcot-Marie-Tooth disease, dominant intermediate G [RCV000585792]|not provided [RCV000057136] Chr8:24956223 [GRCh38]
Chr8:24813737 [GRCh37]
Chr8:8p21.2
pathogenic|uncertain significance|not provided
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034137]|not provided [RCV000057139] Chr8:24956070 [GRCh38]
Chr8:24813584 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034138]|not provided [RCV000057143] Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000034139]|not provided [RCV000057145] Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000022674] Chr8:24955888 [GRCh38]
Chr8:24813402 [GRCh37]
Chr8:8p21.2
pathogenic
NM_006158.4(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 2E [RCV000015073]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV001196666]|Charcot-Marie-Tooth disease, type 1C [RCV000194357]|Decreased nerve conduction velocity [RCV000414916]|Pes cavus [RCV000415401]|not provided [RCV000057144] Chr8:24956452 [GRCh38]
Chr8:24813966 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic|not provided
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) indel Charcot-Marie-Tooth disease type 2E [RCV000015074]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015075]|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_006158.4(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_006158.4(NEFL):c.418G>T (p.Glu140Ter) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015079]|not provided [RCV000057137] Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.4(NEFL):c.1287C>T (p.Thr429=) single nucleotide variant not provided [RCV000640668] Chr8:24953678 [GRCh38]
Chr8:24811192 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_006158.4(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_006158.4(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_006158.4(NEFL):c.793T>G (p.Tyr265Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000809657]|Hereditary motor neuron disease [RCV001027486]|not specified [RCV000516482] Chr8:24955723 [GRCh38]
Chr8:24813237 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.716A>G (p.Gln239Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000546476]|not specified [RCV000518369] Chr8:24955800 [GRCh38]
Chr8:24813314 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.1324_1326TAC[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_006158.4(NEFL):c.-44_-42delinsATG indel not provided [RCV000057110] Chr8:24956557..24956559 [GRCh38]
Chr8:24814071..24814073 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.-54_-53TC[3] microsatellite not provided [RCV000057111] Chr8:24956562..24956563 [GRCh38]
Chr8:24814076..24814077 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.1045-22dup duplication not provided [RCV000057112] Chr8:24954323..24954324 [GRCh38]
Chr8:24811837..24811838 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(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_006158.4(NEFL):c.1189G>A (p.Glu397Lys) single nucleotide variant not provided [RCV000057114] Chr8:24953776 [GRCh38]
Chr8:24811290 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173047]|Charcot-Marie-Tooth disease type 2E [RCV001080353]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000261709]|not provided [RCV000057115]|not specified [RCV000420597] Chr8:24953753 [GRCh38]
Chr8:24811267 [GRCh37]
Chr8:8p21.2
benign|likely benign|uncertain significance|not provided
NM_006158.4(NEFL):c.123C>T (p.Ser41=) single nucleotide variant not provided [RCV000057116] Chr8:24956393 [GRCh38]
Chr8:24813907 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.1329C>A (p.Tyr443Ter) single nucleotide variant not provided [RCV000057117] Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173044]|Charcot-Marie-Tooth disease type 2E [RCV001082150]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000311183]|not provided [RCV000057118]|not specified [RCV000444012] Chr8:24953563 [GRCh38]
Chr8:24811077 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.4(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_006158.4(NEFL):c.1492G>A (p.Ala498Thr) single nucleotide variant not provided [RCV000057120]|not specified [RCV000789605] Chr8:24952950 [GRCh38]
Chr8:24810463 [GRCh37]
Chr8:8p21.2
likely benign|not provided
NM_006158.4(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.1573_1575GAG[2] (p.Glu527del) microsatellite Charcot-Marie-Tooth disease type 2E [RCV001080241]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015076]|not provided [RCV000057123]|not specified [RCV000481083] Chr8:24952861..24952863 [GRCh38]
Chr8:24810374..24810376 [GRCh37]
Chr8:8p21.2
pathogenic|benign|not provided
NM_006158.4(NEFL):c.1590T>G (p.Val530=) single nucleotide variant not provided [RCV000057124]|not specified [RCV000441793] Chr8:24952852 [GRCh38]
Chr8:24810365 [GRCh37]
Chr8:8p21.2
likely benign|not provided
NM_006158.4(NEFL):c.189G>A (p.Ser63=) single nucleotide variant not provided [RCV000057125] Chr8:24956327 [GRCh38]
Chr8:24813841 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789662]|not provided [RCV000057126] Chr8:24956497 [GRCh38]
Chr8:24814011 [GRCh37]
Chr8:8p21.2
uncertain significance|not provided
NM_006158.4(NEFL):c.227T>A (p.Val76Glu) single nucleotide variant not provided [RCV000057127] Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173052]|Charcot-Marie-Tooth disease type 2E [RCV001087779]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000267478]|not provided [RCV000057128]|not specified [RCV000790247] Chr8:24956289 [GRCh38]
Chr8:24813803 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.4(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_006158.4(NEFL):c.23C>G (p.Pro8Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789663]|Charcot-Marie-Tooth disease type 2E [RCV000234847]|not provided [RCV000057131] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2
pathogenic|uncertain significance|not provided
NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001235472]|not provided [RCV000057132] Chr8:24956493 [GRCh38]
Chr8:24814007 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.4(NEFL):c.268G>A (p.Glu90Lys) single nucleotide variant not provided [RCV000057133] Chr8:24956248 [GRCh38]
Chr8:24813762 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.279G>A (p.Gln93=) single nucleotide variant not provided [RCV000057134]|not specified [RCV000789602] Chr8:24956237 [GRCh38]
Chr8:24813751 [GRCh37]
Chr8:8p21.2
uncertain significance|not provided
NM_006158.4(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
likely benign|not provided
NM_006158.4(NEFL):c.45G>A (p.Lys15=) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV001162498]|not provided [RCV000057140] Chr8:24956471 [GRCh38]
Chr8:24813985 [GRCh37]
Chr8:8p21.2
uncertain significance|not provided
NM_006158.4(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_006158.4(NEFL):c.639C>G (p.Ile213Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173051]|Charcot-Marie-Tooth disease type 2E [RCV001081393]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV001160882]|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_006158.4(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]|none provided [RCV001287583]|not provided [RCV000057146]|not specified [RCV000375590] Chr8:24955849 [GRCh38]
Chr8:24813363 [GRCh37]
Chr8:8p21.2
benign|likely benign|not provided
NM_006158.4(NEFL):c.720C>T (p.Tyr240=) single nucleotide variant not provided [RCV000057147]|not specified [RCV000789603] Chr8:24955796 [GRCh38]
Chr8:24813310 [GRCh37]
Chr8:8p21.2
benign|not provided
NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001007466]|not provided [RCV000057148] Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2
pathogenic|not provided
NM_006158.4(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_006158.4(NEFL):c.969G>T (p.Arg323=) single nucleotide variant not provided [RCV000057150] Chr8:24955547 [GRCh38]
Chr8:24813061 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.998T>C (p.Leu333Pro) single nucleotide variant not provided [RCV000057152] Chr8:24955518 [GRCh38]
Chr8:24813032 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.1576dup (p.Glu526fs) duplication not provided [RCV000057122] Chr8:24952865..24952866 [GRCh38]
Chr8:24810378..24810379 [GRCh37]
Chr8:8p21.2
not provided
NM_006158.4(NEFL):c.1170-13T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173734]|Charcot-Marie-Tooth disease, type I [RCV000316969]|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
NM_006158.4(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_006158.4(NEFL):c.1319C>T (p.Pro440Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789071]|Charcot-Marie-Tooth disease type 2E [RCV001044771]|not provided [RCV000143808] Chr8:24953646 [GRCh38]
Chr8:24811160 [GRCh37]
Chr8:8p21.2
pathogenic|likely pathogenic|uncertain significance
NM_006158.4(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_006158.4(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_006158.4(NEFL):c.803T>G (p.Leu268Arg) single nucleotide variant not provided [RCV000143811] Chr8:24955713 [GRCh38]
Chr8:24813227 [GRCh37]
Chr8:8p21.2
likely pathogenic
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174357]|Charcot-Marie-Tooth disease type 2E [RCV000172912] 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 2E [RCV000196314]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000407613]|not specified [RCV000437037] Chr8:24953558 [GRCh38]
Chr8:24811072 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.65C>A (p.Pro22His) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000205038] Chr8:24956451 [GRCh38]
Chr8:24813965 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV001081473]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000764772]|not provided [RCV000235949] Chr8:24952832 [GRCh38]
Chr8:24810345 [GRCh37]
Chr8:8p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000206730]|not specified [RCV000518282] Chr8:24955548 [GRCh38]
Chr8:24813062 [GRCh37]
Chr8:8p21.2
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_006158.4(NEFL):c.1407_1408delinsA (p.Ser472fs) indel not provided [RCV000756414] Chr8:24953557..24953558 [GRCh38]
Chr8:24811071..24811072 [GRCh37]
Chr8:8p21.2
benign
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000535984]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000764773]|not provided [RCV000762503] Chr8:24955530 [GRCh38]
Chr8:24813044 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.1588G>T (p.Val530Phe) single nucleotide variant not provided [RCV000218430] Chr8:24952854 [GRCh38]
Chr8:24810367 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.487G>C (p.Glu163Gln) single nucleotide variant not provided [RCV000218821] Chr8:24956029 [GRCh38]
Chr8:24813543 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.1373T>C (p.Ile458Thr) single nucleotide variant not provided [RCV000216546] Chr8:24953592 [GRCh38]
Chr8:24811106 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.1179G>C (p.Leu393Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857196]|Charcot-Marie-Tooth disease type 2E [RCV000640659]|not specified [RCV000235511] Chr8:24953786 [GRCh38]
Chr8:24811300 [GRCh37]
Chr8:8p21.2
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_006158.4(NEFL):c.572G>A (p.Arg191Gln) single nucleotide variant not specified [RCV000517287] Chr8:24955944 [GRCh38]
Chr8:24813458 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.*486T>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000286843] Chr8:24952324 [GRCh38]
Chr8:24809837 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.*426G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000373061] Chr8:24952384 [GRCh38]
Chr8:24809897 [GRCh37]
Chr8:8p21.2
benign
NM_006158.4(NEFL):c.*244A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000400041] Chr8:24952566 [GRCh38]
Chr8:24810079 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.*878A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000327322] Chr8:24951932 [GRCh38]
Chr8:24809445 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.*82T>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000307000] Chr8:24952728 [GRCh38]
Chr8:24810241 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.*1643G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000376650] Chr8:24951167 [GRCh38]
Chr8:24808680 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.*1806T>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000290458] Chr8:24951004 [GRCh38]
Chr8:24808517 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.*1256G>A single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000311138] Chr8:24951554 [GRCh38]
Chr8:24809067 [GRCh37]
Chr8:8p21.2
benign
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640667]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000356601] Chr8:24953636 [GRCh38]
Chr8:24811150 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.*235A>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000294023] Chr8:24952575 [GRCh38]
Chr8:24810088 [GRCh37]
Chr8:8p21.2
benign
NM_006158.4(NEFL):c.*1107C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000314514] Chr8:24951703 [GRCh38]
Chr8:24809216 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.*378A>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000338445] Chr8:24952432 [GRCh38]
Chr8:24809945 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.*1100C>T single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000362239] Chr8:24951710 [GRCh38]
Chr8:24809223 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.*687G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000264408] Chr8:24952123 [GRCh38]
Chr8:24809636 [GRCh37]
Chr8:8p21.2
benign
NM_006158.4(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_006158.4(NEFL):c.*1344G>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000297649] Chr8:24951466 [GRCh38]
Chr8:24808979 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(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_006158.4(NEFL):c.*51A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000364047] Chr8:24952759 [GRCh38]
Chr8:24810272 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.*101A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000389986] Chr8:24952709 [GRCh38]
Chr8:24810222 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.*1198G>C single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000368106] Chr8:24951612 [GRCh38]
Chr8:24809125 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.*1155T>G single nucleotide variant Charcot-Marie-Tooth disease, type I [RCV000392666] Chr8:24951655 [GRCh38]
Chr8:24809168 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(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
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.*6del deletion not provided [RCV000487701] Chr8:24952804 [GRCh38]
Chr8:24810317 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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
uncertain significance
NM_006158.4(NEFL):c.1044+20A>T single nucleotide variant not specified [RCV000603215] Chr8:24955452 [GRCh38]
Chr8:24812966 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.*1342A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000399540] Chr8:24951468 [GRCh38]
Chr8:24808981 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.*1744T>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000347797] Chr8:24951066 [GRCh38]
Chr8:24808579 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.*1349T>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000402325] Chr8:24951461 [GRCh38]
Chr8:24808974 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.*856T>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000366069] Chr8:24951954 [GRCh38]
Chr8:24809467 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(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_006158.4(NEFL):c.*171C>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000351230] Chr8:24952639 [GRCh38]
Chr8:24810152 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.*577T>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000321938] Chr8:24952233 [GRCh38]
Chr8:24809746 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.141G>A (p.Val47=) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000322687] Chr8:24956375 [GRCh38]
Chr8:24813889 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.*1482C>T single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000342033] Chr8:24951328 [GRCh38]
Chr8:24808841 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.-68T>A single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000377265] Chr8:24956583 [GRCh38]
Chr8:24814097 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.*565del deletion Charcot-Marie-Tooth disease, type I [RCV000378901] Chr8:24952245 [GRCh38]
Chr8:24809758 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(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_006158.4(NEFL):c.270G>C (p.Glu90Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640666] Chr8:24956246 [GRCh38]
Chr8:24813760 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_006158.4(NEFL):c.520C>T (p.Leu174=) single nucleotide variant not provided [RCV000584847] Chr8:24955996 [GRCh38]
Chr8:24813510 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) indel Charcot-Marie-Tooth disease [RCV001172740]|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|uncertain significance
NM_006158.4(NEFL):c.1185C>T (p.Gly395=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640664] Chr8:24953780 [GRCh38]
Chr8:24811294 [GRCh37]
Chr8:8p21.2
uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_006158.4(NEFL):c.1045-2A>G single nucleotide variant not provided [RCV000524009] Chr8:24954307 [GRCh38]
Chr8:24811821 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.796G>A (p.Glu266Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000559005] Chr8:24955720 [GRCh38]
Chr8:24813234 [GRCh37]
Chr8:8p21.2
likely pathogenic
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_006158.4(NEFL):c.1275C>T (p.Gly425=) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640670]|not specified [RCV000423639] Chr8:24953690 [GRCh38]
Chr8:24811204 [GRCh37]
Chr8:8p21.2
benign|likely benign
NM_006158.4(NEFL):c.855C>T (p.Thr285=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173053]|Charcot-Marie-Tooth disease type 2E [RCV000543296]|not specified [RCV000420823] Chr8:24955661 [GRCh38]
Chr8:24813175 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006158.4(NEFL):c.-37A>C single nucleotide variant not specified [RCV000429034] Chr8:24956552 [GRCh38]
Chr8:24814066 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000531003]|not specified [RCV000425861] Chr8:24955932 [GRCh38]
Chr8:24813446 [GRCh37]
Chr8:8p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006158.4(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_006158.4(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_006158.4(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
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) indel Charcot-Marie-Tooth disease type 2E [RCV000474144] Chr8:24956435..24956438 [GRCh38]
Chr8:24813949..24813952 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(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_006158.4(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_006158.4(NEFL):c.821A>G (p.Gln274Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000460408] Chr8:24955695 [GRCh38]
Chr8:24813209 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.688G>A (p.Glu230Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000465280] Chr8:24955828 [GRCh38]
Chr8:24813342 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(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_006158.4(NEFL):c.579G>A (p.Met193Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000466337]|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_006158.4(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_006158.4(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_006158.4(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_006158.4(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_006158.4(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_006158.4(NEFL):c.1462G>A (p.Glu488Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857188]|Charcot-Marie-Tooth disease type 2E [RCV000640661] Chr8:24953503 [GRCh38]
Chr8:24811016 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.1284G>A (p.Gln428=) single nucleotide variant not specified [RCV000609903] Chr8:24953681 [GRCh38]
Chr8:24811195 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640662] Chr8:24953625 [GRCh38]
Chr8:24811139 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.1482G>A (p.Glu494=) single nucleotide variant not specified [RCV000608427] Chr8:24953483 [GRCh38]
Chr8:24810996 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.146C>T (p.Ser49Phe) single nucleotide variant not provided [RCV000512683] Chr8:24956370 [GRCh38]
Chr8:24813884 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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
uncertain significance
NM_006158.4(NEFL):c.217C>G (p.Leu73Val) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000640665] Chr8:24956299 [GRCh38]
Chr8:24813813 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.1195C>T (p.Arg399Ter) single nucleotide variant not provided [RCV000513356] Chr8:24953770 [GRCh38]
Chr8:24811284 [GRCh37]
Chr8:8p21.2
likely pathogenic
NM_006158.4(NEFL):c.353T>G (p.Leu118Arg) single nucleotide variant not provided [RCV000659102] Chr8:24956163 [GRCh38]
Chr8:24813677 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(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_006158.4(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_006158.4(NEFL):c.418G>A (p.Glu140Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000688624] Chr8:24956098 [GRCh38]
Chr8:24813612 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000690223] Chr8:24956449 [GRCh38]
Chr8:24813963 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.202C>G (p.Leu68Val) single nucleotide variant not provided [RCV000712411] Chr8:24956314 [GRCh38]
Chr8:24813828 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(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_006158.4(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_006158.4(NEFL):c.1044+5G>C single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000697991] Chr8:24955467 [GRCh38]
Chr8:24812981 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000689664] Chr8:24955761 [GRCh38]
Chr8:24813275 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(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 Autosomal dominant distal hereditary motor neuropathy [RCV000857194]|Charcot-Marie-Tooth disease [RCV000857192]|Charcot-Marie-Tooth disease, type I [RCV000857193] 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_006158.4(NEFL):c.1585A>G (p.Lys529Glu) single nucleotide variant not provided [RCV000762500] Chr8:24952857 [GRCh38]
Chr8:24810370 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.1267G>C (p.Ala423Pro) single nucleotide variant not provided [RCV000762501] Chr8:24953698 [GRCh38]
Chr8:24811212 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(NEFL):c.1131C>T (p.Asn377=) single nucleotide variant not provided [RCV000762502] Chr8:24954219 [GRCh38]
Chr8:24811733 [GRCh37]
Chr8:8p21.2
likely benign
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, demyelinating, type 1f [RCV001164322] Chr8:24951657 [GRCh38]
Chr8:24809170 [GRCh37]
Chr8:8p21.2
uncertain significance
NC_000008.11:g.24956773G>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV001164539] 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 not provided [RCV000992441] Chr8:24955651 [GRCh38]
Chr8:24813165 [GRCh37]
Chr8:8p21.2
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] Chr8:24956156 [GRCh38]
Chr8:24813670 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.36C>T (p.Thr12=) single nucleotide variant not provided [RCV000868578] Chr8:24956480 [GRCh38]
Chr8:24813994 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.492C>G (p.Arg164=) single nucleotide variant not provided [RCV000925068] Chr8:24956024 [GRCh38]
Chr8:24813538 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000809813] Chr8:24956073 [GRCh38]
Chr8:24813587 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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 not provided [RCV000933160] 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_006158.4(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_006158.4(NEFL):c.743A>C (p.Asp248Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001027485]|Charcot-Marie-Tooth disease type 2E [RCV000801161] Chr8:24955773 [GRCh38]
Chr8:24813287 [GRCh37]
Chr8:8p21.2
likely pathogenic|uncertain significance
NM_006158.4(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_006158.4(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_006158.4(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_006158.4(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_006158.4(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, demyelinating, type 1f [RCV001162499]|not provided [RCV000829710] Chr8:24956691 [GRCh38]
Chr8:24814205 [GRCh37]
Chr8:8p21.2
benign
NC_000008.11:g.24956889T>C 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_006158.4(NEFL):c.1044+46G>A single nucleotide variant not provided [RCV000833529] Chr8:24955426 [GRCh38]
Chr8:24812940 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(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_006158.4(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_006158.4(NEFL):c.192G>A (p.Leu64=) single nucleotide variant not specified [RCV000790246] Chr8:24956324 [GRCh38]
Chr8:24813838 [GRCh37]
Chr8:8p21.2
benign
NM_006158.4(NEFL):c.1044+39G>C single nucleotide variant not provided [RCV000835480] Chr8:24955433 [GRCh38]
Chr8:24812947 [GRCh37]
Chr8:8p21.2
benign
NM_006158.4(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_006158.4(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_006158.4(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
uncertain significance
NM_006158.4(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_006158.4(NEFL):c.1292C>G (p.Ser431Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2E [RCV000806836] Chr8:24953673 [GRCh38]
Chr8:24811187 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.4(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_006158.4(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_006158.4(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_006158.4(NEFL):c.1395A>G (p.Glu465=) single nucleotide variant 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 not provided [RCV000875097] Chr8:24955988 [GRCh38]
Chr8:24813502 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1185C>G (p.Gly395=) single nucleotide variant not provided [RCV000875128] Chr8:24953780 [GRCh38]
Chr8:24811294 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.4(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_006158.4(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] 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 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 not provided [RCV000937144] 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_006158.4(NEFL):c.837G>A (p.Trp279Ter) single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000850076] 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, demyelinating, type 1f [RCV001162497]|Inborn genetic diseases [RCV001267223] Chr8:24956178 [GRCh38]
Chr8:24813692 [GRCh37]
Chr8:8p21.2
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] 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, demyelinating, 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] 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, demyelinating, 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, demyelinating, type 1f [RCV001160887] Chr8:24956177 [GRCh38]
Chr8:24813691 [GRCh37]
Chr8:8p21.2
likely benign|uncertain significance
NM_006158.5(NEFL):c.390C>T (p.Ser130=) single nucleotide variant not provided [RCV000929786] 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 not provided [RCV000863574] Chr8:24955643 [GRCh38]
Chr8:24813157 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1578G>A (p.Glu526=) single nucleotide variant not provided [RCV000920372] 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] 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, demyelinating, 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] 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] 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] 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, demyelinating, 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]|not provided [RCV000934061] Chr8:24956096 [GRCh38]
Chr8:24813610 [GRCh37]
Chr8:8p21.2
likely benign
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, demyelinating, 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] 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] Chr8:24953814 [GRCh38]
Chr8:24811328 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1169+14G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173057] Chr8:24954167 [GRCh38]
Chr8:24811681 [GRCh37]
Chr8:8p21.2
likely benign
NC_000008.11:g.24956698G>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, 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] 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] 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] Chr8:24952808 [GRCh38]
Chr8:24810321 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1086G>A (p.Lys362=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173733] 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, demyelinating, 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, demyelinating, type 1f [RCV001160886] Chr8:24956000 [GRCh38]
Chr8:24813514 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172734] 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] 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] 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] 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] Chr8:24956430 [GRCh38]
Chr8:24813944 [GRCh37]
Chr8:8p21.2
likely benign
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
uncertain significance
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
NC_000008.11:g.24956763G>C single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, 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] 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.1008_1010GGA[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] 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, demyelinating, type 1f [RCV001164444] Chr8:24953557 [GRCh38]
Chr8:24811071 [GRCh37]
Chr8:8p21.2
likely benign
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del) microsatellite Charcot-Marie-Tooth disease type 2E [RCV001218356] 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] 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 2E [RCV001207087]|Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV001159512] 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, demyelinating, 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, demyelinating, 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, demyelinating, 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, demyelinating, type 1f [RCV001160883] Chr8:24955952 [GRCh38]
Chr8:24813466 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.*1293A>G single nucleotide variant Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV001162289] Chr8:24951517 [GRCh38]
Chr8:24809030 [GRCh37]
Chr8:8p21.2
benign
NM_006158.5(NEFL):c.781A>G (p.Ile261Val) single nucleotide variant none provided [RCV001285242] Chr8:24955735 [GRCh38]
Chr8:24813249 [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.882C>G (p.Asn294Lys) single nucleotide variant not provided [RCV001288257] Chr8:24955634 [GRCh38]
Chr8:24813148 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly) single nucleotide variant none provided [RCV001286550] Chr8:24952940 [GRCh38]
Chr8:24810453 [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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7739 AgrOrtholog
COSMIC NEFL COSMIC
Ensembl Genes ENSG00000277586 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000482169 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000610854 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.1160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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, UniProtKB/TrEMBL
  IF_rod_dom_coil1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermed_filament_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NF-L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4747 UniProtKB/Swiss-Prot
NCBI Gene 4747 ENTREZGENE
OMIM 162280 OMIM
  607684 OMIM
  607734 OMIM
  617882 OMIM
PANTHER PTHR45652:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filament_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31542 PharmGKB
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z436_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4B1_HUMAN UniProtKB/TrEMBL
  I6L9F6_HUMAN UniProtKB/TrEMBL
  NFL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7Z5R4_HUMAN UniProtKB/TrEMBL
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
2016-12-13 NEFL  neurofilament light    neurofilament, light polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-16 NEFL  neurofilament, light polypeptide  NEFL  neurofilament, light polypeptide  Symbol and/or name change 5135510 APPROVED