NEFH (neurofilament heavy chain) - Rat Genome Database

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Gene: NEFH (neurofilament heavy chain) Homo sapiens
Analyze
Symbol: NEFH
Name: neurofilament heavy chain
RGD ID: 736723
HGNC Page HGNC:7737
Description: Enables protein kinase binding activity. A structural constituent of cytoskeleton. Involved in axon development; neurofilament bundle assembly; and regulation of organelle transport along microtubule. Located in cytoplasm; cytoskeleton; and neurofibrillary tangle. Implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Biomarker of Creutzfeldt-Jakob disease; autoimmune disease of the nervous system (multiple); and optic neuritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 200 kDa neurofilament protein; CMT2CC; neurofilament heavy; neurofilament heavy polypeptide; neurofilament triplet H protein; neurofilament, heavy polypeptide; neurofilament, heavy polypeptide 200kDa; NF-H; NFH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NEFHP1   NEFHP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382229,480,218 - 29,491,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2229,480,218 - 29,491,390 (+)EnsemblGRCh38hg38GRCh38
GRCh372229,876,207 - 29,887,379 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,206,219 - 28,217,279 (+)NCBINCBI36Build 36hg18NCBI36
Build 342228,200,772 - 28,211,829NCBI
Celera2213,676,024 - 13,687,118 (+)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2212,839,995 - 12,851,105 (+)NCBIHuRef
CHM1_12229,835,584 - 29,846,662 (+)NCBICHM1_1
T2T-CHM13v2.02229,943,567 - 29,954,761 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (ISO)
(R)-adrenaline  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
1,2-dichlorobenzene  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,5-hexanedione  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methyladenine  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acetonitrile  (ISO)
actinomycin D  (ISO)
aldicarb  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-amanitin  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
Ampullosporin  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
atropine  (ISO)
benzo[a]pyrene  (EXP)
benzyl benzoate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Brodifacoum  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
cannabidiol  (EXP)
carbamazepine  (ISO)
carbaryl  (EXP)
carbon disulfide  (ISO)
carbonyl sulfide  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
Cuprizon  (ISO)
cycloheximide  (ISO)
cyclosporin A  (ISO)
cyfluthrin  (EXP)
cypermethrin  (EXP)
daidzein 7-O-beta-D-glucoside  (ISO)
deguelin  (EXP)
diazepam  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
diquat  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxycycline  (ISO)
emetine  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethylene glycol  (ISO)
fenvalerate  (ISO)
FR900359  (EXP)
fulvestrant  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glufosinate  (ISO)
glycerol  (ISO)
graphite  (ISO)
hydroquinone  (EXP)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(II) chloride  (ISO)
lithium sulfate  (ISO)
malathion  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
mercury dibromide  (EXP)
methanol  (ISO)
methylmercury chloride  (EXP,ISO)
Mipafox  (EXP)
mitoxantrone  (EXP)
morphine  (ISO)
N,N-dimethylformamide  (ISO)
N-acetyl-L-cysteine  (ISO)
ochratoxin A  (ISO)
octanoic acid  (ISO)
octyl gallate  (ISO)
orphenadrine  (ISO)
ozone  (ISO)
paraoxon  (EXP)
paraquat  (ISO)
parathion  (ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (EXP)
potassium citrate monohydrate  (ISO)
potassium sulfate  (ISO)
progesterone  (EXP)
propan-2-ol  (ISO)
propanal  (EXP)
propranolol  (ISO)
puromycin  (ISO)
resveratrol  (EXP)
Riluzole  (ISO)
rotenone  (EXP)
sarin  (ISO)
SB 431542  (EXP)
scopolamine  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium hydrogencarbonate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP)
tetracycline  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichlorfon  (EXP)
trichostatin A  (EXP)
trimethyltin  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
Tryptanthrine  (EXP)
tunicamycin  (EXP)
urea  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
Withanone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormality on pulmonary function testing  (IAGP)
Adult onset  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anxiety  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cachexia  (IAGP)
Cognitive impairment  (IAGP)
Degeneration of anterior horn cells  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Depression  (IAGP)
Distal amyotrophy  (IAGP)
Distal sensory impairment  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dyspnea  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: neuropathic changes  (IAGP)
Emotional lability  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Frontotemporal dementia  (IAGP)
Generalized muscle weakness  (IAGP)
Hoffmann sign  (IAGP)
Hyperreflexia  (IAGP)
Hyporeflexia  (IAGP)
Impaired vibratory sensation  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Jaw hyperreflexia  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Lower limb amyotrophy  (IAGP)
Lower limb muscle weakness  (IAGP)
Motor neuron atrophy  (IAGP)
Muscle fiber splitting  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myopathy  (IAGP)
Neurodegeneration  (IAGP)
Orthopnea  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Progressive  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Pseudobulbar paralysis  (IAGP)
Pyloric stenosis  (IAGP)
Ragged-red muscle fibers  (IAGP)
Respiratory failure  (IAGP)
Rimmed vacuoles  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensory axonal neuropathy  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Steppage gait  (IAGP)
Tongue atrophy  (IAGP)
Tongue fasciculations  (IAGP)
Upper limb amyotrophy  (IAGP)
Upper limb muscle weakness  (IAGP)
Variable expressivity  (IAGP)
Waddling gait  (IAGP)
Weight loss  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Al-Chalabi A, etal., Hum Mol Genet 1999 Feb;8(2):157-64.
2. Involvement of microglia in early axoglial alterations of the optic nerve induced by experimental glaucoma. Bordone MP, etal., J Neurochem. 2017 Jul;142(2):323-337. doi: 10.1111/jnc.14070. Epub 2017 Jun 9.
3. Effects of brain ischemia on intermediate filaments of rat hippocampus. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
4. The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study. Ehler J, etal., PLoS One. 2019 Jan 24;14(1):e0211184. doi: 10.1371/journal.pone.0211184. eCollection 2019.
5. Requirement of heavy neurofilament subunit in the development of axons with large calibers. Elder GA, etal., J Cell Biol 1998 Oct 5;143(1):195-205.
6. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. mRNA levels of all three neurofilament proteins decline following nerve transection. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
9. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
10. Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis. Kong J and Xu Z, Neurosci Lett. 2000 Mar 3;281(1):72-4.
11. Cerebrospinal fluid light and heavy neurofilament level increased in anti-N-methyl-d-aspartate receptor encephalitis. Li J, etal., Brain Behav. 2019 Aug;9(8):e01354. doi: 10.1002/brb3.1354. Epub 2019 Jul 17.
12. Vascular Endothelial Growth Factor-Transfected Bone Marrow Mesenchymal Stem Cells Improve the Recovery of Motor and Sensory Functions of Rats With Spinal Cord Injury. Liu X, etal., Spine (Phila Pa 1976). 2020 Apr 1;45(7):E364-E372. doi: 10.1097/BRS.0000000000003333.
13. Longitudinal Assessment of Transorbital Sonography, Visual Acuity, and Biomarkers for Inflammation and Axonal Injury in Optic Neuritis. Lochner P, etal., Dis Markers. 2017;2017:5434310. doi: 10.1155/2017/5434310. Epub 2017 Sep 11.
14. Impaired Neurofilament Integrity and Neuronal Morphology in Different Models of Focal Cerebral Ischemia and Human Stroke Tissue. Mages B, etal., Front Cell Neurosci. 2018 Jun 18;12:161. doi: 10.3389/fncel.2018.00161. eCollection 2018.
15. Allopregnanolone prevents and suppresses oxaliplatin-evoked painful neuropathy: multi-parametric assessment and direct evidence. Meyer L, etal., Pain. 2011 Jan;152(1):170-81. doi: 10.1016/j.pain.2010.10.015. Epub 2010 Nov 10.
16. Overexpression of MAP2 and NF-H Associated with Dendritic Pathology in the Spinal Cord of Mice Infected with Rabies Virus. Monroy-Gómez J, etal., Viruses. 2018 Mar 6;10(3). pii: v10030112. doi: 10.3390/v10030112.
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. Neurofilament heavy chain expression and neuroplasticity in rat auditory cortex after unilateral and bilateral deafness. Park MH, etal., Hear Res. 2016 Sep;339:155-60. doi: 10.1016/j.heares.2016.07.010. Epub 2016 Jul 22.
19. The diagnostic and prognostic value of neurofilament heavy chain levels in immune-mediated optic neuropathies. Petzold A and Plant GT, Mult Scler Int. 2012;2012:217802. doi: 10.1155/2012/217802. Epub 2012 Dec 17.
20. Quantification of neurodegeneration by measurement of brain-specific proteins. Petzold A, etal., J Neuroimmunol. 2003 May;138(1-2):45-8. doi: 10.1016/s0165-5728(03)00092-4.
21. Axonal degeneration and inflammation in acute optic neuritis. Petzold A, etal., J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1178-80. doi: 10.1136/jnnp.2003.017236.
22. Treatment response in relation to inflammatory and axonal surrogate marker in multiple sclerosis. Petzold A, etal., Mult Scler. 2004 Jun;10(3):281-3. doi: 10.1191/1352458504ms1021sr.
23. The new global multiple sclerosis severity score (MSSS) correlates with axonal but not glial biomarkers. Petzold A, etal., Mult Scler. 2006 Jun;12(3):325-8. doi: 10.1191/135248505ms1277oa.
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. Neurofilament heavy chain and heat shock protein 70 as markers of seizure-related brain injury. Rejdak K, etal., Epilepsia. 2012 May;53(5):922-7. doi: 10.1111/j.1528-1167.2012.03459.x. Epub 2012 Apr 17.
26. Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods. Reynolds R, etal., Exp Neurol. 1993 Dec;124(2):357-67.
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Neurotrophin-3 prevents the proximal accumulation of neurofilament proteins in sensory neurons of streptozocin-induced diabetic rats. Sayers NM, etal., Diabetes. 2003 Sep;52(9):2372-80.
31. Thyroid hormones stimulate expression and modification of cytoskeletal protein during rat sciatic nerve regeneration. Schenker M, etal., Brain Res. 2002 Dec 13;957(2):259-70.
32. [Tetramethylpyrazine accelerated spinal cord repair through regulation of caspase-3 and neurofilament protein expression: an acute spinal cord injury model in rats]. Shen ZX, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Aug;33(8):693-9.
33. Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease. Steinacker P, etal., Sci Rep. 2016 Dec 8;6:38737. doi: 10.1038/srep38737.
34. Anti-neurofilament antibodies in neuropathy with monoclonal gammopathy of undetermined significance produce experimental motor nerve conduction block. Stubbs EB Jr, etal., Acta Neuropathol. 2003 Feb;105(2):109-16. Epub 2002 Sep 13.
35. Selective solubilization of high-molecular-mass neurofilament subunit during nerve regeneration. Tsuda M, etal., J Neurochem. 2000 Feb;74(2):860-8.
36. Artemin induced functional recovery and reinnervation after partial nerve injury. Wang R, etal., Pain. 2014 Mar;155(3):476-84. doi: 10.1016/j.pain.2013.11.007. Epub 2013 Nov 21.
37. Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. Zamoner A, etal., Neurotoxicology. 2008 Nov;29(6):1092-9. doi: 10.1016/j.neuro.2008.09.004. Epub 2008 Sep 18.
Additional References at PubMed
PMID:1688443   PMID:2557834   PMID:3138108   PMID:7536898   PMID:7849698   PMID:8102569   PMID:8224877   PMID:8379998   PMID:8621664   PMID:8889548   PMID:9313898   PMID:9388258  
PMID:9592082   PMID:9875737   PMID:10048485   PMID:11238716   PMID:12130654   PMID:12477932   PMID:12674703   PMID:12963086   PMID:14662745   PMID:14722583   PMID:15489334   PMID:16084104  
PMID:17290105   PMID:17498690   PMID:17626162   PMID:18319731   PMID:18635547   PMID:19054571   PMID:19104679   PMID:19678766   PMID:20140245   PMID:20213320   PMID:20301623   PMID:20624930  
PMID:21349546   PMID:21792676   PMID:21828286   PMID:21858182   PMID:21873635   PMID:21976236   PMID:22810585   PMID:23079625   PMID:23117489   PMID:23134506   PMID:23632043   PMID:24189400  
PMID:24260563   PMID:24327345   PMID:24464810   PMID:25192482   PMID:25261856   PMID:25341992   PMID:25633679   PMID:25798074   PMID:26186194   PMID:26460568   PMID:27040688   PMID:27207456  
PMID:27236410   PMID:27295058   PMID:27415180   PMID:27423602   PMID:27462432   PMID:27538346   PMID:27732645   PMID:28500227   PMID:28514442   PMID:28524877   PMID:28628244   PMID:28709447  
PMID:28977470   PMID:29054919   PMID:29945509   PMID:30021884   PMID:30029677   PMID:30070096   PMID:31029495   PMID:31199010   PMID:31574089   PMID:31980649   PMID:32780247   PMID:32814053  
PMID:33020509   PMID:33609080   PMID:33895854   PMID:33961781   PMID:34518334   PMID:35091664   PMID:36042248   PMID:36200879  


Genomics

Comparative Map Data
NEFH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382229,480,218 - 29,491,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2229,480,218 - 29,491,390 (+)EnsemblGRCh38hg38GRCh38
GRCh372229,876,207 - 29,887,379 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,206,219 - 28,217,279 (+)NCBINCBI36Build 36hg18NCBI36
Build 342228,200,772 - 28,211,829NCBI
Celera2213,676,024 - 13,687,118 (+)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2212,839,995 - 12,851,105 (+)NCBIHuRef
CHM1_12229,835,584 - 29,846,662 (+)NCBICHM1_1
T2T-CHM13v2.02229,943,567 - 29,954,761 (+)NCBIT2T-CHM13v2.0
Nefh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39114,888,754 - 4,898,064 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl114,888,754 - 4,898,064 (-)EnsemblGRCm39 Ensembl
GRCm38114,938,754 - 4,948,064 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl114,938,754 - 4,948,064 (-)EnsemblGRCm38mm10GRCm38
MGSCv37114,838,757 - 4,848,067 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36114,838,761 - 4,851,268 (-)NCBIMGSCv36mm8
Celera115,436,254 - 5,444,974 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.12NCBI
Nefh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81484,044,428 - 84,054,413 (-)NCBIGRCr8
mRatBN7.21479,830,362 - 79,840,347 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1479,830,362 - 79,840,351 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1484,232,750 - 84,242,741 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01485,472,824 - 85,482,815 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01481,922,138 - 81,932,117 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01485,181,572 - 85,191,557 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1485,181,572 - 85,191,557 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01485,859,193 - 85,869,187 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41485,594,789 - 85,604,774 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11485,614,415 - 85,623,919 (-)NCBI
Celera1478,720,827 - 78,730,812 (-)NCBICelera
Cytogenetic Map14q21NCBI
Nefh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554553,735,410 - 3,744,107 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554553,735,330 - 3,744,714 (+)NCBIChiLan1.0ChiLan1.0
NEFH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22339,453,989 - 39,465,030 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12242,155,232 - 42,166,273 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02210,525,738 - 10,536,788 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12228,331,778 - 28,341,874 (+)NCBIpanpan1.1PanPan1.1panPan2
NEFH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12622,726,523 - 22,735,129 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2622,726,526 - 22,735,125 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2622,598,106 - 22,606,671 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02623,100,617 - 23,109,200 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2623,100,626 - 23,109,200 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12622,810,029 - 22,818,553 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02623,073,295 - 23,081,873 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02623,138,184 - 23,146,781 (+)NCBIUU_Cfam_GSD_1.0
Nefh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118112,417,611 - 112,427,289 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366573,443,485 - 3,453,133 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366573,443,406 - 3,453,096 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEFH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1446,559,860 - 46,568,088 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11446,559,698 - 46,568,686 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21449,572,997 - 49,583,859 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NEFH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11912,357,982 - 12,375,449 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666045113,778,644 - 113,789,304 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nefh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247475,806,645 - 5,815,554 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247475,806,576 - 5,816,158 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEFH
770 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021076.4(NEFH):c.2015CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG[1] (p.672AEAKSPEKAKSPVK[1]) microsatellite Amyotrophic lateral sclerosis, susceptibility to [RCV000015080]|not provided [RCV000057189] Chr22:29489621..29489662 [GRCh38]
Chr22:29885610..29885651 [GRCh37]
Chr22:22q12.2		 risk factor|not provided
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3		 pathogenic
GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3 copy number gain See cases [RCV000051199] Chr22:29281920..29878399 [GRCh38]
Chr22:29677909..30274388 [GRCh37]
Chr22:28007909..28604388 [NCBI36]
Chr22:22q12.2		 uncertain significance
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 copy number loss See cases [RCV000052870] Chr22:28278805..31742328 [GRCh38]
Chr22:28674793..32138314 [GRCh37]
Chr22:27004793..30468314 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1 copy number loss See cases [RCV000052871] Chr22:28441035..30276511 [GRCh38]
Chr22:28837023..30672500 [GRCh37]
Chr22:27167023..29002500 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1 copy number loss See cases [RCV000052872] Chr22:28856144..29506277 [GRCh38]
Chr22:29252132..29902266 [GRCh37]
Chr22:27582132..28232266 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.3(NEFH):c.1666G>A (p.Glu556Lys) single nucleotide variant Malignant melanoma [RCV000072935] Chr22:29489306 [GRCh38]
Chr22:29885295 [GRCh37]
Chr22:28215295 [NCBI36]
Chr22:22q12.2		 not provided
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser) single nucleotide variant Inborn genetic diseases [RCV002408558]|NEFH-related disorder [RCV003915022]|not provided [RCV000057177] Chr22:29483545 [GRCh38]
Chr22:29879534 [GRCh37]
Chr22:22q12.2		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_021076.4(NEFH):c.1138G>A (p.Ala380Thr) single nucleotide variant Inborn genetic diseases [RCV002321553]|NEFH-related disorder [RCV003935001]|not provided [RCV000057178] Chr22:29485777 [GRCh38]
Chr22:29881766 [GRCh37]
Chr22:22q12.2		 benign|likely benign|not provided
NM_021076.4(NEFH):c.1203T>C (p.Ala401=) single nucleotide variant Inborn genetic diseases [RCV002345364]|not provided [RCV000057179] Chr22:29485842 [GRCh38]
Chr22:29881831 [GRCh37]
Chr22:22q12.2		 likely benign|not provided
NM_021076.4(NEFH):c.1375G>A (p.Glu459Lys) single nucleotide variant not provided [RCV000057180] Chr22:29489015 [GRCh38]
Chr22:29885004 [GRCh37]
Chr22:22q12.2		 not provided
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV000625208]|not provided [RCV000057181]|not specified [RCV001698954] Chr22:29489027 [GRCh38]
Chr22:29885016 [GRCh37]
Chr22:22q12.2		 benign|not provided
NM_021076.4(NEFH):c.1554A>C (p.Ser518=) single nucleotide variant Inborn genetic diseases [RCV002399417]|not provided [RCV000057182] Chr22:29489194 [GRCh38]
Chr22:29885183 [GRCh37]
Chr22:22q12.2		 likely benign|not provided
NM_021076.4(NEFH):c.1629A>G (p.Glu543=) single nucleotide variant not provided [RCV000057183] Chr22:29489269 [GRCh38]
Chr22:29885258 [GRCh37]
Chr22:22q12.2		 likely benign|not provided
NM_021076.4(NEFH):c.1836A>C (p.Ala612=) single nucleotide variant Inborn genetic diseases [RCV002408559]|not provided [RCV000057184] Chr22:29489476 [GRCh38]
Chr22:29885465 [GRCh37]
Chr22:22q12.2		 likely benign|not provided
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV000625210]|Amyotrophic lateral sclerosis type 1 [RCV002496749]|Charcot-Marie-Tooth disease axonal type 2CC [RCV001781391]|not provided [RCV000057185]|not specified [RCV001699028] Chr22:29489484 [GRCh38]
Chr22:29885473 [GRCh37]
Chr22:22q12.2		 benign|not provided
NM_021076.4(NEFH):c.1878A>C (p.Ala626=) single nucleotide variant Inborn genetic diseases [RCV002408560]|not provided [RCV000057186] Chr22:29489518 [GRCh38]
Chr22:29885507 [GRCh37]
Chr22:22q12.2		 likely benign|not provided
NM_021076.4(NEFH):c.1965_1988del (p.Glu658_Lys665del) deletion Inborn genetic diseases [RCV001266472]|NEFH-related disorder [RCV003935002]|not provided [RCV000057187] Chr22:29489592..29489615 [GRCh38]
Chr22:29885581..29885604 [GRCh37]
Chr22:22q12.2		 benign|likely benign|not provided
NM_021076.4(NEFH):c.1989_2006del (p.Glu664_Pro669del) deletion Inborn genetic diseases [RCV002415510]|NEFH-related disorder [RCV004748549]|not provided [RCV000057188] Chr22:29489616..29489633 [GRCh38]
Chr22:29885605..29885622 [GRCh37]
Chr22:22q12.2		 likely benign|not provided
NEFH:c.1989_2030del42 (p.Pro663_Pro677delinsPro) deletion not provided [RCV000057189] Chr22:29489629..29489670 [GRCh38]
Chr22:29885618..29885659 [GRCh37]
Chr22:22q12.2		 not provided
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1]) deletion Amyotrophic lateral sclerosis type 1 [RCV000990404]|not provided [RCV000057190] Chr22:29489870..29489887 [GRCh38]
Chr22:29885859..29885876 [GRCh37]
Chr22:22q12.2		 benign|not provided
NM_021076.4(NEFH):c.2234A>T (p.Lys745Met) single nucleotide variant not provided [RCV000057191] Chr22:29489874 [GRCh38]
Chr22:29885863 [GRCh37]
Chr22:22q12.2		 not provided
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) deletion Amyotrophic lateral sclerosis type 1 [RCV000990405]|Inborn genetic diseases [RCV002453370]|NEFH-related disorder [RCV003964912]|not provided [RCV000057192] Chr22:29490008..29490010 [GRCh38]
Chr22:29885997..29885999 [GRCh37]
Chr22:22q12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV000625212]|Charcot-Marie-Tooth disease axonal type 2CC [RCV001781392]|not provided [RCV000057193]|not specified [RCV001699191] Chr22:29490054 [GRCh38]
Chr22:29886043 [GRCh37]
Chr22:22q12.2		 benign|not provided
NM_021076.4(NEFH):c.269C>T (p.Ala90Val) single nucleotide variant Inborn genetic diseases [RCV002426614]|NEFH-related disorder [RCV003964913]|not provided [RCV000057194] Chr22:29480531 [GRCh38]
Chr22:29876520 [GRCh37]
Chr22:22q12.2		 benign|likely benign|uncertain significance|not provided
NM_021076.4(NEFH):c.2784A>G (p.Val928=) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV000625213]|Charcot-Marie-Tooth disease axonal type 2CC [RCV001781393]|not provided [RCV000057195]|not specified [RCV001699114] Chr22:29490424 [GRCh38]
Chr22:29886413 [GRCh37]
Chr22:22q12.2		 benign|not provided
NM_021076.4(NEFH):c.472C>T (p.Leu158=) single nucleotide variant Inborn genetic diseases [RCV002336205]|not provided [RCV000057196] Chr22:29480734 [GRCh38]
Chr22:29876723 [GRCh37]
Chr22:22q12.2		 likely benign|not provided
NM_021076.4(NEFH):c.745G>A (p.Gly249Ser) single nucleotide variant not provided [RCV000057197] Chr22:29481007 [GRCh38]
Chr22:29876996 [GRCh37]
Chr22:22q12.2		 benign|likely benign|not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 copy number loss See cases [RCV000143415] Chr22:26451042..31451926 [GRCh38]
Chr22:26847008..31847912 [GRCh37]
Chr22:25177008..30177912 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.4(NEFH):c.1859C>T (p.Ser620Phe) single nucleotide variant Inborn genetic diseases [RCV000210544]|not provided [RCV000900167] Chr22:29489499 [GRCh38]
Chr22:29885488 [GRCh37]
Chr22:22q12.2		 benign|uncertain significance
NM_021076.4(NEFH):c.3017_3020dup (p.Pro1008fs) duplication Charcot-Marie-Tooth disease axonal type 2CC [RCV000210933] Chr22:29490656..29490657 [GRCh38]
Chr22:29886645..29886646 [GRCh37]
Chr22:22q12.2		 pathogenic
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs) deletion Charcot-Marie-Tooth disease axonal type 2CC [RCV000210935]|not provided [RCV001853394] Chr22:29490649..29490650 [GRCh38]
Chr22:29886638..29886639 [GRCh37]
Chr22:22q12.2		 pathogenic|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_021076.4(NEFH):c.2752del (p.Glu918fs) deletion Charcot-Marie-Tooth disease axonal type 2CC [RCV003321458] Chr22:29490391 [GRCh38]
Chr22:29886380 [GRCh37]
Chr22:22q12.2		 likely pathogenic
NM_021076.4(NEFH):c.469_491del (p.Val157fs) deletion Inborn genetic diseases [RCV002341495]|NEFH-related disorder [RCV003945373]|not provided [RCV000585363] Chr22:29480721..29480743 [GRCh38]
Chr22:29876710..29876732 [GRCh37]
Chr22:22q12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:29537064-30994320)x3 copy number gain See cases [RCV000448504] Chr22:29537064..30994320 [GRCh37]
Chr22:22q12.1-12.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3 copy number gain See cases [RCV000510523] Chr22:28349854..33013062 [GRCh37]
Chr22:22q12.1-12.3		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV000624934]|Charcot-Marie-Tooth disease axonal type 2CC [RCV001784179]|not provided [RCV001675943]|not specified [RCV001701404] Chr22:29489872 [GRCh38]
Chr22:29885861 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV000625207]|Charcot-Marie-Tooth disease axonal type 2CC [RCV001784180]|not provided [RCV001653957]|not specified [RCV001700417] Chr22:29485839 [GRCh38]
Chr22:29881828 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.682G>C (p.Gly228Arg) single nucleotide variant Inborn genetic diseases [RCV003292717]|not provided [RCV003777079] Chr22:29480944 [GRCh38]
Chr22:29876933 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) duplication Amyotrophic lateral sclerosis type 1 [RCV000625211]|not provided [RCV000948130]|not specified [RCV001698587] Chr22:29489578..29489579 [GRCh38]
Chr22:29885567..29885568 [GRCh37]
Chr22:22q12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_021076.4(NEFH):c.410C>A (p.Ala137Glu) single nucleotide variant Inborn genetic diseases [RCV003263111] Chr22:29480672 [GRCh38]
Chr22:29876661 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV000625209]|Inborn genetic diseases [RCV002404711]|NEFH-related disorder [RCV003917988]|not provided [RCV000882074]|not specified [RCV001701127] Chr22:29489380 [GRCh38]
Chr22:29885369 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.713T>C (p.Val238Ala) single nucleotide variant Inborn genetic diseases [RCV003249665]|not provided [RCV003779915] Chr22:29480975 [GRCh38]
Chr22:29876964 [GRCh37]
Chr22:22q12.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_021076.4(NEFH):c.1575G>C (p.Lys525Asn) single nucleotide variant Inborn genetic diseases [RCV002397339]|NEFH-related disorder [RCV003953222]|not provided [RCV000658934] Chr22:29489215 [GRCh38]
Chr22:29885204 [GRCh37]
Chr22:22q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.397dup (p.Arg133fs) duplication not provided [RCV000658105] Chr22:29480658..29480659 [GRCh38]
Chr22:29876647..29876648 [GRCh37]
Chr22:22q12.2		 likely pathogenic|uncertain significance
NM_021076.4(NEFH):c.1169A>C (p.Asn390Thr) single nucleotide variant Inborn genetic diseases [RCV002331292]|NEFH-related disorder [RCV003953221]|not provided [RCV000658933] Chr22:29485808 [GRCh38]
Chr22:29881797 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1 copy number loss not provided [RCV000684497] Chr22:29644625..31051719 [GRCh37]
Chr22:22q12.2		 pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_021076.4(NEFH):c.555A>C (p.Leu185=) single nucleotide variant NEFH-related disorder [RCV003916093]|not provided [RCV000962768] Chr22:29480817 [GRCh38]
Chr22:29876806 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.297G>A (p.Glu99=) single nucleotide variant NEFH-related disorder [RCV003921292]|not provided [RCV001647682] Chr22:29480559 [GRCh38]
Chr22:29876548 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.884-84dup duplication not provided [RCV001641557] Chr22:29483276..29483277 [GRCh38]
Chr22:29879265..29879266 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1083+254TTTA[10] microsatellite not provided [RCV001679118] Chr22:29483827..29483828 [GRCh38]
Chr22:29879816..29879817 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.702C>T (p.His234=) single nucleotide variant not provided [RCV000924708] Chr22:29480964 [GRCh38]
Chr22:29876953 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.433C>T (p.Leu145=) single nucleotide variant not provided [RCV000929484] Chr22:29480695 [GRCh38]
Chr22:29876684 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2141A>C (p.Glu714Ala) single nucleotide variant Inborn genetic diseases [RCV002427239]|not provided [RCV000884194] Chr22:29489781 [GRCh38]
Chr22:29885770 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.2880G>T (p.Glu960Asp) single nucleotide variant not provided [RCV000903992] Chr22:29490520 [GRCh38]
Chr22:29886509 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.450C>A (p.Val150=) single nucleotide variant not provided [RCV000925132] Chr22:29480712 [GRCh38]
Chr22:29876701 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.474G>A (p.Leu158=) single nucleotide variant not provided [RCV000925133] Chr22:29480736 [GRCh38]
Chr22:29876725 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.312G>A (p.Leu104=) single nucleotide variant not provided [RCV000972565] Chr22:29480574 [GRCh38]
Chr22:29876563 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.240G>A (p.Leu80=) single nucleotide variant not provided [RCV000901295] Chr22:29480502 [GRCh38]
Chr22:29876491 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1581G>A (p.Pro527=) single nucleotide variant NEFH-related disorder [RCV003925894]|not provided [RCV000948504] Chr22:29489221 [GRCh38]
Chr22:29885210 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2601G>T (p.Lys867Asn) single nucleotide variant Inborn genetic diseases [RCV002434331]|NEFH-related disorder [RCV003960849]|not provided [RCV000972353] Chr22:29490241 [GRCh38]
Chr22:29886230 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.928G>A (p.Ala310Thr) single nucleotide variant not provided [RCV000940253] Chr22:29483419 [GRCh38]
Chr22:29879408 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.456G>C (p.Glu152Asp) single nucleotide variant NEFH-related disorder [RCV003910678]|not provided [RCV000896443] Chr22:29480718 [GRCh38]
Chr22:29876707 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1182T>G (p.Ala394=) single nucleotide variant not provided [RCV000983063] Chr22:29485821 [GRCh38]
Chr22:29881810 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1926G>A (p.Thr642=) single nucleotide variant not provided [RCV000896444] Chr22:29489566 [GRCh38]
Chr22:29885555 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2307A>C (p.Pro769=) single nucleotide variant not provided [RCV000916324] Chr22:29489947 [GRCh38]
Chr22:29885936 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.883+7A>G single nucleotide variant not provided [RCV000997895] Chr22:29481152 [GRCh38]
Chr22:29877141 [GRCh37]
Chr22:22q12.2		 conflicting interpretations of pathogenicity|uncertain significance
inv(22)(q12.2q12.2) inversion Anaplastic ependymoma [RCV000785873] Chr22:29684716..31740655 [GRCh37]
Chr22:22q12.2		 likely pathogenic
NM_021076.4(NEFH):c.735C>T (p.Ile245=) single nucleotide variant not provided [RCV000916447] Chr22:29480997 [GRCh38]
Chr22:29876986 [GRCh37]
Chr22:22q12.2		 likely benign
GRCh37/hg19 22q12.2(chr22:29865041-29959633)x3 copy number gain not provided [RCV000846440] Chr22:29865041..29959633 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1347G>C (p.Lys449Asn) single nucleotide variant Inborn genetic diseases [RCV003160144]|not provided [RCV000997898] Chr22:29488987 [GRCh38]
Chr22:29884976 [GRCh37]
Chr22:22q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.141C>T (p.Phe47=) single nucleotide variant NEFH-related disorder [RCV004749581]|not provided [RCV000997893] Chr22:29480403 [GRCh38]
Chr22:29876392 [GRCh37]
Chr22:22q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.706G>A (p.Glu236Lys) single nucleotide variant not provided [RCV000997894] Chr22:29480968 [GRCh38]
Chr22:29876957 [GRCh37]
Chr22:22q12.2		 uncertain significance
GRCh37/hg19 22q12.2(chr22:29863157-29891274)x1 copy number loss not provided [RCV000848241] Chr22:29863157..29891274 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.883+1G>C single nucleotide variant Charcot-Marie-Tooth disease axonal type 2C [RCV000991290] Chr22:29481146 [GRCh38]
Chr22:29877135 [GRCh37]
Chr22:22q12.2		 likely pathogenic
NM_021076.4(NEFH):c.1463G>A (p.Gly488Glu) single nucleotide variant not provided [RCV001228861] Chr22:29489103 [GRCh38]
Chr22:29885092 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003132133]|Inborn genetic diseases [RCV002391062]|not provided [RCV000997896] Chr22:29483527 [GRCh38]
Chr22:29879516 [GRCh37]
Chr22:22q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q12.2(chr22:29833216-29891274)x3 copy number gain not provided [RCV000846840] Chr22:29833216..29891274 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1965A>T (p.Pro655=) single nucleotide variant NEFH-related disorder [RCV003941061]|not provided [RCV001665004] Chr22:29489605 [GRCh38]
Chr22:29885594 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1084-175C>T single nucleotide variant not provided [RCV001595183] Chr22:29485548 [GRCh38]
Chr22:29881537 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.123T>C (p.Ala41=) single nucleotide variant NEFH-related disorder [RCV003921305]|not provided [RCV001655218] Chr22:29480385 [GRCh38]
Chr22:29876374 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1209-271C>T single nucleotide variant not provided [RCV001684076] Chr22:29488578 [GRCh38]
Chr22:29884567 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.883+283C>T single nucleotide variant not provided [RCV001717883] Chr22:29481428 [GRCh38]
Chr22:29877417 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1083+213_1083+214del deletion not provided [RCV001639450] Chr22:29483769..29483770 [GRCh38]
Chr22:29879758..29879759 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.*201G>T single nucleotide variant not provided [RCV001635611] Chr22:29490904 [GRCh38]
Chr22:29886893 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1500_1505dup (p.Thr501_Lys502dup) duplication not provided [RCV000887296] Chr22:29489138..29489139 [GRCh38]
Chr22:29885127..29885128 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.21G>A (p.Ala7=) single nucleotide variant not provided [RCV000954531] Chr22:29480283 [GRCh38]
Chr22:29876272 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2757C>T (p.Asp919=) single nucleotide variant not provided [RCV000954532] Chr22:29490397 [GRCh38]
Chr22:29886386 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1941G>C (p.Lys647Asn) single nucleotide variant not provided [RCV000972352] Chr22:29489581 [GRCh38]
Chr22:29885570 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.594G>A (p.Ala198=) single nucleotide variant not provided [RCV000910773] Chr22:29480856 [GRCh38]
Chr22:29876845 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.381C>G (p.Gly127=) single nucleotide variant not provided [RCV000937248] Chr22:29480643 [GRCh38]
Chr22:29876632 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1065C>T (p.Ala355=) single nucleotide variant not provided [RCV000931391] Chr22:29483556 [GRCh38]
Chr22:29879545 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.759G>T (p.Ala253=) single nucleotide variant NEFH-related disorder [RCV003918465]|not provided [RCV000971447] Chr22:29481021 [GRCh38]
Chr22:29877010 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1446G>A (p.Glu482=) single nucleotide variant not provided [RCV000955599] Chr22:29489086 [GRCh38]
Chr22:29885075 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1723C>T (p.Pro575Ser) single nucleotide variant not provided [RCV000955600] Chr22:29489363 [GRCh38]
Chr22:29885352 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1783C>T (p.Pro595Ser) single nucleotide variant not provided [RCV000955601] Chr22:29489423 [GRCh38]
Chr22:29885412 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1105G>A (p.Ala369Thr) single nucleotide variant not provided [RCV000997897] Chr22:29485744 [GRCh38]
Chr22:29881733 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2712C>T (p.Pro904=) single nucleotide variant not provided [RCV000958189] Chr22:29490352 [GRCh38]
Chr22:29886341 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.627C>G (p.Ala209=) single nucleotide variant NEFH-related disorder [RCV003960510]|not provided [RCV000935148] Chr22:29480889 [GRCh38]
Chr22:29876878 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.2199C>T (p.Pro733=) single nucleotide variant not provided [RCV001531542] Chr22:29489839 [GRCh38]
Chr22:29885828 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1208+54C>T single nucleotide variant not provided [RCV001595325] Chr22:29485901 [GRCh38]
Chr22:29881890 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.459G>T (p.Met153Ile) single nucleotide variant not specified [RCV002470117] Chr22:29480721 [GRCh38]
Chr22:29876710 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.883+233G>A single nucleotide variant not provided [RCV001723112] Chr22:29481378 [GRCh38]
Chr22:29877367 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1083+194G>A single nucleotide variant not provided [RCV001658778] Chr22:29483768 [GRCh38]
Chr22:29879757 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1083+254TTTA[7] microsatellite not provided [RCV001677680] Chr22:29483828..29483835 [GRCh38]
Chr22:29879817..29879824 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1083+182C>G single nucleotide variant not provided [RCV001721998] Chr22:29483756 [GRCh38]
Chr22:29879745 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1208+48G>A single nucleotide variant not provided [RCV001721999] Chr22:29485895 [GRCh38]
Chr22:29881884 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1084-244G>A single nucleotide variant not provided [RCV001722000] Chr22:29485479 [GRCh38]
Chr22:29881468 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1083+254TTTA[12] microsatellite not provided [RCV001596251] Chr22:29483827..29483828 [GRCh38]
Chr22:29879816..29879817 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2019A>G (p.Glu673=) single nucleotide variant not provided [RCV001598564] Chr22:29489659 [GRCh38]
Chr22:29885648 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.883+57T>C single nucleotide variant not provided [RCV001621421] Chr22:29481202 [GRCh38]
Chr22:29877191 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2022A>C (p.Ala674=) single nucleotide variant not provided [RCV001588698] Chr22:29489662 [GRCh38]
Chr22:29885651 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1083+214del deletion not provided [RCV001609750] Chr22:29483769 [GRCh38]
Chr22:29879758 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1083+254TTTA[8] microsatellite not provided [RCV001696455] Chr22:29483828..29483831 [GRCh38]
Chr22:29879817..29879820 [GRCh37]
Chr22:22q12.2		 benign
NC_000022.10:g.(?_29083875)_(30090801_?)del deletion Familial cancer of breast [RCV001033149] Chr22:29083875..30090801 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.4(NEFH):c.3057dup (p.Lys1020fs) duplication not provided [RCV001090275] Chr22:29490693..29490694 [GRCh38]
Chr22:29886682..29886683 [GRCh37]
Chr22:22q12.2		 pathogenic
NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs) deletion Amyotrophic lateral sclerosis type 1 [RCV001253512]|not provided [RCV003727956] Chr22:29489016..29489019 [GRCh38]
Chr22:29885005..29885008 [GRCh37]
Chr22:22q12.2		 uncertain significance
GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1 copy number loss not provided [RCV001258778] Chr22:28291202..30450920 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.4(NEFH):c.582G>C (p.Glu194Asp) single nucleotide variant NEFH-related disorder [RCV004749651]|not provided [RCV001311596] Chr22:29480844 [GRCh38]
Chr22:29876833 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2870C>A (p.Thr957Asn) single nucleotide variant not provided [RCV001327070] Chr22:29490510 [GRCh38]
Chr22:29886499 [GRCh37]
Chr22:22q12.2		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_021076.4(NEFH):c.38C>T (p.Ala13Val) single nucleotide variant not provided [RCV001888943] Chr22:29480300 [GRCh38]
Chr22:29876289 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260206]|Inborn genetic diseases [RCV002418864]|not provided [RCV001553235] Chr22:29489649 [GRCh38]
Chr22:29885638 [GRCh37]
Chr22:22q12.2		 benign|likely benign|uncertain significance
NM_021076.4(NEFH):c.747C>T (p.Gly249=) single nucleotide variant not provided [RCV002002096] Chr22:29481009 [GRCh38]
Chr22:29876998 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.25G>C (p.Ala9Pro) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV001336538] Chr22:29480287 [GRCh38]
Chr22:29876276 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1054C>T (p.Arg352Cys) single nucleotide variant NEFH-related disorder [RCV004749652]|not provided [RCV001311597] Chr22:29483545 [GRCh38]
Chr22:29879534 [GRCh37]
Chr22:22q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.1774G>T (p.Ala592Ser) single nucleotide variant NEFH-related disorder [RCV004749653]|not provided [RCV001311598] Chr22:29489414 [GRCh38]
Chr22:29885403 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2327C>G (p.Ser776Cys) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV001336537]|Inborn genetic diseases [RCV002456468]|not provided [RCV002546782] Chr22:29489967 [GRCh38]
Chr22:29885956 [GRCh37]
Chr22:22q12.2		 benign|likely benign|uncertain significance
NM_021076.4(NEFH):c.3057_3060dup (p.Ter1021GluextTer?) duplication not provided [RCV001269889] Chr22:29490695..29490696 [GRCh38]
Chr22:29886684..29886685 [GRCh37]
Chr22:22q12.2		 likely pathogenic
NM_021076.4(NEFH):c.172G>A (p.Val58Met) single nucleotide variant not provided [RCV001370193] Chr22:29480434 [GRCh38]
Chr22:29876423 [GRCh37]
Chr22:22q12.2		 uncertain significance
NC_000022.10:g.(?_29083885)_(30337586_?)del deletion Neurofibromatosis, type 2 [RCV001390044] Chr22:29083885..30337586 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NC_000022.10:g.(?_29105984)_(30337586_?)del deletion Familial cancer of breast [RCV001390747] Chr22:29105984..30337586 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.4(NEFH):c.884-84del deletion not provided [RCV001611808] Chr22:29483277 [GRCh38]
Chr22:29879266 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.883+16G>A single nucleotide variant not provided [RCV001699718] Chr22:29481161 [GRCh38]
Chr22:29877150 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1083+254TTTA[11] microsatellite not provided [RCV001696458] Chr22:29483827..29483828 [GRCh38]
Chr22:29879816..29879817 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1587G>A (p.Glu529=) single nucleotide variant not provided [RCV003107129] Chr22:29489227 [GRCh38]
Chr22:29885216 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.36C>A (p.Gly12=) single nucleotide variant not provided [RCV003106930] Chr22:29480298 [GRCh38]
Chr22:29876287 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1013C>T (p.Thr338Ile) single nucleotide variant Inborn genetic diseases [RCV003355526]|not provided [RCV001727220] Chr22:29483504 [GRCh38]
Chr22:29879493 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1084-251A>G single nucleotide variant not provided [RCV001732274] Chr22:29485472 [GRCh38]
Chr22:29881461 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2719G>T (p.Glu907Ter) single nucleotide variant Inborn genetic diseases [RCV003275399] Chr22:29490359 [GRCh38]
Chr22:29886348 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1083+214dup duplication not provided [RCV001762917] Chr22:29483768..29483769 [GRCh38]
Chr22:29879757..29879758 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.967C>T (p.Arg323Cys) single nucleotide variant not provided [RCV001763866] Chr22:29483458 [GRCh38]
Chr22:29879447 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.393_400dup (p.Gln134fs) microsatellite not provided [RCV001800144] Chr22:29480646..29480647 [GRCh38]
Chr22:29876635..29876636 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.841C>G (p.His281Asp) single nucleotide variant not provided [RCV001770556] Chr22:29481103 [GRCh38]
Chr22:29877092 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.883+241A>T single nucleotide variant not provided [RCV001733031] Chr22:29481386 [GRCh38]
Chr22:29877375 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.883+129A>G single nucleotide variant not provided [RCV001787606] Chr22:29481274 [GRCh38]
Chr22:29877263 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2003C>G (p.Ser668Cys) single nucleotide variant not provided [RCV001758483] Chr22:29489643 [GRCh38]
Chr22:29885632 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.934C>T (p.Arg312Cys) single nucleotide variant Inborn genetic diseases [RCV002370335]|NEFH-related disorder [RCV003416469]|not provided [RCV001816319] Chr22:29483425 [GRCh38]
Chr22:29879414 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.406C>T (p.Gln136Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV001809237]|not provided [RCV004770210] Chr22:29480668 [GRCh38]
Chr22:29876657 [GRCh37]
Chr22:22q12.2		 likely pathogenic|uncertain significance
NM_021076.4(NEFH):c.2849C>T (p.Ala950Val) single nucleotide variant NEFH-related disorder [RCV003395302]|not provided [RCV001984816] Chr22:29490489 [GRCh38]
Chr22:29886478 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2737_2742del (p.Lys913_Val914del) deletion not provided [RCV002044607] Chr22:29490377..29490382 [GRCh38]
Chr22:29886366..29886371 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.448G>A (p.Val150Ile) single nucleotide variant not provided [RCV001988439] Chr22:29480710 [GRCh38]
Chr22:29876699 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.94G>C (p.Gly32Arg) single nucleotide variant Inborn genetic diseases [RCV002370402]|not provided [RCV001929995] Chr22:29480356 [GRCh38]
Chr22:29876345 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.673G>A (p.Glu225Lys) single nucleotide variant not provided [RCV002025016] Chr22:29480935 [GRCh38]
Chr22:29876924 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.748G>T (p.Ala250Ser) single nucleotide variant not provided [RCV001971651] Chr22:29481010 [GRCh38]
Chr22:29876999 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1796A>C (p.Lys599Thr) single nucleotide variant not provided [RCV001929416] Chr22:29489436 [GRCh38]
Chr22:29885425 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.595_636del (p.Ala199_Ala212del) deletion NEFH-related disorder [RCV004749776]|not provided [RCV001915218] Chr22:29480840..29480881 [GRCh38]
Chr22:29876829..29876870 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2327C>A (p.Ser776Tyr) single nucleotide variant not provided [RCV001864478] Chr22:29489967 [GRCh38]
Chr22:29885956 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2516C>T (p.Pro839Leu) single nucleotide variant not provided [RCV001874909] Chr22:29490156 [GRCh38]
Chr22:29886145 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1744G>A (p.Glu582Lys) single nucleotide variant not provided [RCV001964211] Chr22:29489384 [GRCh38]
Chr22:29885373 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1073C>T (p.Ala358Val) single nucleotide variant not provided [RCV002021589] Chr22:29483564 [GRCh38]
Chr22:29879553 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.503G>T (p.Arg168Leu) single nucleotide variant not provided [RCV001949045] Chr22:29480765 [GRCh38]
Chr22:29876754 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1079A>C (p.Tyr360Ser) single nucleotide variant not provided [RCV002008377] Chr22:29483570 [GRCh38]
Chr22:29879559 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1670A>C (p.Glu557Ala) single nucleotide variant not provided [RCV001895434] Chr22:29489310 [GRCh38]
Chr22:29885299 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2362C>A (p.Pro788Thr) single nucleotide variant not provided [RCV001843646] Chr22:29490002 [GRCh38]
Chr22:29885991 [GRCh37]
Chr22:22q12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala) single nucleotide variant Peripheral neuropathy [RCV002291508]|not provided [RCV001911340] Chr22:29489324 [GRCh38]
Chr22:29885313 [GRCh37]
Chr22:22q12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.2006C>T (p.Pro669Leu) single nucleotide variant not provided [RCV001896345] Chr22:29489646 [GRCh38]
Chr22:29885635 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1396G>A (p.Val466Met) single nucleotide variant not provided [RCV001891228] Chr22:29489036 [GRCh38]
Chr22:29885025 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2725G>A (p.Glu909Lys) single nucleotide variant not provided [RCV002022878] Chr22:29490365 [GRCh38]
Chr22:29886354 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.860T>A (p.Leu287Gln) single nucleotide variant not provided [RCV002041396] Chr22:29481122 [GRCh38]
Chr22:29877111 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2566AAG[1] (p.Lys857del) microsatellite Inborn genetic diseases [RCV002425203]|NEFH-related disorder [RCV003395271]|not provided [RCV001893900] Chr22:29490204..29490206 [GRCh38]
Chr22:29886193..29886195 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.1973_1978del (p.Glu658_Glu659del) deletion Inborn genetic diseases [RCV002423252]|NEFH-related disorder [RCV003941249]|not provided [RCV002043027] Chr22:29489610..29489615 [GRCh38]
Chr22:29885599..29885604 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.876G>A (p.Trp292Ter) single nucleotide variant not provided [RCV001948070] Chr22:29481138 [GRCh38]
Chr22:29877127 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.727G>C (p.Gly243Arg) single nucleotide variant Inborn genetic diseases [RCV002386822]|not provided [RCV001965622] Chr22:29480989 [GRCh38]
Chr22:29876978 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.85G>T (p.Ala29Ser) single nucleotide variant Inborn genetic diseases [RCV002442884]|NEFH-related disorder [RCV003395292]|not provided [RCV001964591] Chr22:29480347 [GRCh38]
Chr22:29876336 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.379G>A (p.Gly127Ser) single nucleotide variant not provided [RCV002040848] Chr22:29480641 [GRCh38]
Chr22:29876630 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1066G>A (p.Asp356Asn) single nucleotide variant Inborn genetic diseases [RCV002407305]|not provided [RCV002021026] Chr22:29483557 [GRCh38]
Chr22:29879546 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.932T>C (p.Met311Thr) single nucleotide variant NEFH-related disorder [RCV004749760]|not provided [RCV001912172] Chr22:29483423 [GRCh38]
Chr22:29879412 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1346A>G (p.Lys449Arg) single nucleotide variant not provided [RCV002039468] Chr22:29488986 [GRCh38]
Chr22:29884975 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2669T>C (p.Val890Ala) single nucleotide variant not provided [RCV001967132] Chr22:29490309 [GRCh38]
Chr22:29886298 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.328G>C (p.Gly110Arg) single nucleotide variant not provided [RCV001985830] Chr22:29480590 [GRCh38]
Chr22:29876579 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.869A>G (p.Glu290Gly) single nucleotide variant not provided [RCV002002722] Chr22:29481131 [GRCh38]
Chr22:29877120 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2157_2174del (p.Glu720_Pro725del) deletion Inborn genetic diseases [RCV004038852]|NEFH-related disorder [RCV004749751]|not provided [RCV002039340] Chr22:29489789..29489806 [GRCh38]
Chr22:29885778..29885795 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.772G>A (p.Glu258Lys) single nucleotide variant not provided [RCV001987106] Chr22:29481034 [GRCh38]
Chr22:29877023 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2288C>T (p.Ser763Phe) single nucleotide variant not provided [RCV001909025] Chr22:29489928 [GRCh38]
Chr22:29885917 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2176G>C (p.Val726Leu) single nucleotide variant Inborn genetic diseases [RCV002425107]|not provided [RCV002042023] Chr22:29489816 [GRCh38]
Chr22:29885805 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.187A>G (p.Ser63Gly) single nucleotide variant NEFH-related disorder [RCV004749762]|not provided [RCV001895210] Chr22:29480449 [GRCh38]
Chr22:29876438 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.880C>G (p.Arg294Gly) single nucleotide variant Inborn genetic diseases [RCV002370527]|not provided [RCV001910471] Chr22:29481142 [GRCh38]
Chr22:29877131 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1656_1697del (p.Ala554_Pro567del) deletion Inborn genetic diseases [RCV002398112]|not provided [RCV002023737] Chr22:29489286..29489327 [GRCh38]
Chr22:29885275..29885316 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2200G>A (p.Glu734Lys) single nucleotide variant not provided [RCV001911670] Chr22:29489840 [GRCh38]
Chr22:29885829 [GRCh37]
Chr22:22q12.2		 uncertain significance
NC_000022.10:g.(?_29876252)_(29886692_?)dup duplication not provided [RCV004579302] Chr22:29876252..29886692 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.378G>C (p.Glu126Asp) single nucleotide variant not provided [RCV001908109] Chr22:29480640 [GRCh38]
Chr22:29876629 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.534C>G (p.Ile178Met) single nucleotide variant Inborn genetic diseases [RCV003170401]|not provided [RCV002003738] Chr22:29480796 [GRCh38]
Chr22:29876785 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2627A>G (p.Glu876Gly) single nucleotide variant not provided [RCV001889665] Chr22:29490267 [GRCh38]
Chr22:29886256 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.678G>T (p.Glu226Asp) single nucleotide variant not provided [RCV001986439] Chr22:29480940 [GRCh38]
Chr22:29876929 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2194A>T (p.Thr732Ser) single nucleotide variant not provided [RCV001886579] Chr22:29489834 [GRCh38]
Chr22:29885823 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1476G>C (p.Glu492Asp) single nucleotide variant not provided [RCV001982173] Chr22:29489116 [GRCh38]
Chr22:29885105 [GRCh37]
Chr22:22q12.2		 uncertain significance
NC_000022.10:g.(?_29130713)_(30000111_?)del deletion Neurofibromatosis, type 2 [RCV001982188] Chr22:29130713..30000111 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_021076.4(NEFH):c.1839_1880del (p.604AKSPVKEEAKSPAE[1]) deletion not provided [RCV001979834] Chr22:29489448..29489489 [GRCh38]
Chr22:29885437..29885478 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1274G>C (p.Gly425Ala) single nucleotide variant not provided [RCV001961842] Chr22:29488914 [GRCh38]
Chr22:29884903 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2983G>A (p.Glu995Lys) single nucleotide variant not provided [RCV001881923] Chr22:29490623 [GRCh38]
Chr22:29886612 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1784C>T (p.Pro595Leu) single nucleotide variant not provided [RCV001941269] Chr22:29489424 [GRCh38]
Chr22:29885413 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.336C>A (p.Ile112=) single nucleotide variant not provided [RCV001961984] Chr22:29480598 [GRCh38]
Chr22:29876587 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.136G>C (p.Gly46Arg) single nucleotide variant not provided [RCV002000907] Chr22:29480398 [GRCh38]
Chr22:29876387 [GRCh37]
Chr22:22q12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.704A>G (p.Gln235Arg) single nucleotide variant not provided [RCV002001258] Chr22:29480966 [GRCh38]
Chr22:29876955 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2758G>A (p.Ala920Thr) single nucleotide variant Inborn genetic diseases [RCV002441088]|NEFH-related disorder [RCV003401942]|not provided [RCV001953380] Chr22:29490398 [GRCh38]
Chr22:29886387 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.248G>C (p.Gly83Ala) single nucleotide variant not provided [RCV001903961] Chr22:29480510 [GRCh38]
Chr22:29876499 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1441G>A (p.Glu481Lys) single nucleotide variant not provided [RCV002037194] Chr22:29489081 [GRCh38]
Chr22:29885070 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1150_1160del (p.Glu384fs) deletion not provided [RCV001937753] Chr22:29485787..29485797 [GRCh38]
Chr22:29881776..29881786 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.398G>A (p.Arg133Gln) single nucleotide variant not provided [RCV001880841] Chr22:29480660 [GRCh38]
Chr22:29876649 [GRCh37]
Chr22:22q12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_021076.4(NEFH):c.1417G>A (p.Glu473Lys) single nucleotide variant not provided [RCV002000944] Chr22:29489057 [GRCh38]
Chr22:29885046 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2396C>T (p.Ala799Val) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003134323]|not provided [RCV002000988] Chr22:29490036 [GRCh38]
Chr22:29886025 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.4A>G (p.Met2Val) single nucleotide variant not provided [RCV001921610] Chr22:29480266 [GRCh38]
Chr22:29876255 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.62G>A (p.Gly21Asp) single nucleotide variant not provided [RCV001962238] Chr22:29480324 [GRCh38]
Chr22:29876313 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2509G>C (p.Glu837Gln) single nucleotide variant not provided [RCV002036907] Chr22:29490149 [GRCh38]
Chr22:29886138 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1055G>A (p.Arg352His) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003492723]|NEFH-related disorder [RCV003893072]|not provided [RCV002020250] Chr22:29483546 [GRCh38]
Chr22:29879535 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1403A>C (p.Glu468Ala) single nucleotide variant not provided [RCV002030650] Chr22:29489043 [GRCh38]
Chr22:29885032 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.857C>T (p.Thr286Met) single nucleotide variant Inborn genetic diseases [RCV004041345]|not provided [RCV001897858] Chr22:29481119 [GRCh38]
Chr22:29877108 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1510_1530del (p.Pro504_Ala510del) deletion not provided [RCV001936994] Chr22:29489150..29489170 [GRCh38]
Chr22:29885139..29885159 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.20C>A (p.Ala7Glu) single nucleotide variant not provided [RCV002050751] Chr22:29480282 [GRCh38]
Chr22:29876271 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2164G>T (p.Ala722Ser) single nucleotide variant not provided [RCV002027056] Chr22:29489804 [GRCh38]
Chr22:29885793 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1996_1997insAAGAGG (p.Lys665_Ala666insGluGlu) insertion Inborn genetic diseases [RCV002423029]|not provided [RCV001920673] Chr22:29489633..29489634 [GRCh38]
Chr22:29885622..29885623 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.968G>C (p.Arg323Pro) single nucleotide variant not provided [RCV001882993] Chr22:29483459 [GRCh38]
Chr22:29879448 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.341A>C (p.Lys114Thr) single nucleotide variant Inborn genetic diseases [RCV002458860]|not provided [RCV001953125] Chr22:29480603 [GRCh38]
Chr22:29876592 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.158C>A (p.Thr53Lys) single nucleotide variant not provided [RCV001954450] Chr22:29480420 [GRCh38]
Chr22:29876409 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.514G>A (p.Glu172Lys) single nucleotide variant Inborn genetic diseases [RCV002334896]|not provided [RCV001919292] Chr22:29480776 [GRCh38]
Chr22:29876765 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2237C>A (p.Ser746Tyr) single nucleotide variant NEFH-related disorder [RCV004749786]|not provided [RCV001954772] Chr22:29489877 [GRCh38]
Chr22:29885866 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1079A>G (p.Tyr360Cys) single nucleotide variant Inborn genetic diseases [RCV002422910]|not provided [RCV001864931] Chr22:29483570 [GRCh38]
Chr22:29879559 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.628G>A (p.Glu210Lys) single nucleotide variant not provided [RCV002048582] Chr22:29480890 [GRCh38]
Chr22:29876879 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1920_1943del (p.Thr642_Pro649del) deletion not provided [RCV001974672] Chr22:29489555..29489578 [GRCh38]
Chr22:29885544..29885567 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.850C>G (p.Gln284Glu) single nucleotide variant not provided [RCV001898629] Chr22:29481112 [GRCh38]
Chr22:29877101 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2839AAG[1] (p.Lys948del) microsatellite not provided [RCV001904129] Chr22:29490477..29490479 [GRCh38]
Chr22:29886466..29886468 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.392C>T (p.Ala131Val) single nucleotide variant not provided [RCV001974814] Chr22:29480654 [GRCh38]
Chr22:29876643 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2351del (p.Lys784fs) deletion not provided [RCV001880859] Chr22:29489988 [GRCh38]
Chr22:29885977 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2842A>G (p.Lys948Glu) single nucleotide variant Inborn genetic diseases [RCV002545340]|not provided [RCV002033285] Chr22:29490482 [GRCh38]
Chr22:29886471 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.737A>C (p.Gln246Pro) single nucleotide variant not provided [RCV002050600] Chr22:29480999 [GRCh38]
Chr22:29876988 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2440A>G (p.Ile814Val) single nucleotide variant Inborn genetic diseases [RCV002458645]|not provided [RCV002050677] Chr22:29490080 [GRCh38]
Chr22:29886069 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2746G>A (p.Val916Met) single nucleotide variant Inborn genetic diseases [RCV002441066]|not provided [RCV001940846] Chr22:29490386 [GRCh38]
Chr22:29886375 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2713A>C (p.Thr905Pro) single nucleotide variant NEFH-related disorder [RCV003416506]|not provided [RCV001867262] Chr22:29490353 [GRCh38]
Chr22:29886342 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.352C>G (p.Leu118Val) single nucleotide variant Inborn genetic diseases [RCV002334760]|not provided [RCV001934958] Chr22:29480614 [GRCh38]
Chr22:29876603 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2458G>A (p.Val820Met) single nucleotide variant not provided [RCV001923926] Chr22:29490098 [GRCh38]
Chr22:29886087 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys) single nucleotide variant Amyotrophic lateral sclerosis [RCV003107875]|Inborn genetic diseases [RCV002386641]|NEFH-related disorder [RCV004749759]|not provided [RCV001885731] Chr22:29488961 [GRCh38]
Chr22:29884950 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.1209-2A>G single nucleotide variant Inborn genetic diseases [RCV002346269]|not provided [RCV002010671] Chr22:29488847 [GRCh38]
Chr22:29884836 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2003C>T (p.Ser668Phe) single nucleotide variant not provided [RCV001940336] Chr22:29489643 [GRCh38]
Chr22:29885632 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2708T>C (p.Val903Ala) single nucleotide variant not provided [RCV002015497] Chr22:29490348 [GRCh38]
Chr22:29886337 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2518A>G (p.Lys840Glu) single nucleotide variant not provided [RCV002010763] Chr22:29490158 [GRCh38]
Chr22:29886147 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1235G>A (p.Arg412Gln) single nucleotide variant not provided [RCV002016571] Chr22:29488875 [GRCh38]
Chr22:29884864 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.427G>C (p.Gly143Arg) single nucleotide variant not provided [RCV001938612] Chr22:29480689 [GRCh38]
Chr22:29876678 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1417_1425dup (p.Glu473_Glu475dup) duplication not provided [RCV001992883] Chr22:29489056..29489057 [GRCh38]
Chr22:29885045..29885046 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.782A>G (p.Asp261Gly) single nucleotide variant Inborn genetic diseases [RCV002407056]|not provided [RCV001938057] Chr22:29481044 [GRCh38]
Chr22:29877033 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NC_000022.10:g.(?_29876252)_(29881856_?)dup duplication not provided [RCV002012162] Chr22:29876252..29881856 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1311G>T (p.Lys437Asn) single nucleotide variant not provided [RCV002019094] Chr22:29488951 [GRCh38]
Chr22:29884940 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.211G>A (p.Ala71Thr) single nucleotide variant Inborn genetic diseases [RCV002423017]|not provided [RCV001918399] Chr22:29480473 [GRCh38]
Chr22:29876462 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.764T>C (p.Met255Thr) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003134259]|not provided [RCV001924174] Chr22:29481026 [GRCh38]
Chr22:29877015 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.871G>T (p.Glu291Ter) single nucleotide variant Inborn genetic diseases [RCV003167020]|not provided [RCV001919868] Chr22:29481133 [GRCh38]
Chr22:29877122 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.1925C>A (p.Thr642Lys) single nucleotide variant not provided [RCV002032217] Chr22:29489565 [GRCh38]
Chr22:29885554 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.640G>A (p.Val214Met) single nucleotide variant not provided [RCV002046243] Chr22:29480902 [GRCh38]
Chr22:29876891 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.107G>A (p.Gly36Glu) single nucleotide variant not provided [RCV002018015] Chr22:29480369 [GRCh38]
Chr22:29876358 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1966_1967insTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCTGAGAAGGCCAAGTCCCCAG (p.Pro655_Glu656insValLysGluGluAlaLysSerProGluLysAlaLysSerProGluLysAlaLysSerPro) insertion not provided [RCV001979243] Chr22:29489578..29489579 [GRCh38]
Chr22:29885567..29885568 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2782G>A (p.Val928Ile) single nucleotide variant not provided [RCV001932084] Chr22:29490422 [GRCh38]
Chr22:29886411 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.762G>C (p.Gln254His) single nucleotide variant Inborn genetic diseases [RCV002571207]|not provided [RCV001990736] Chr22:29481024 [GRCh38]
Chr22:29877013 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.197G>A (p.Arg66His) single nucleotide variant Inborn genetic diseases [RCV003355762]|not provided [RCV002029158] Chr22:29480459 [GRCh38]
Chr22:29876448 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.70C>T (p.Leu24Phe) single nucleotide variant not provided [RCV001981027] Chr22:29480332 [GRCh38]
Chr22:29876321 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1904C>T (p.Pro635Leu) single nucleotide variant NEFH-related disorder [RCV003416620]|not provided [RCV001933413] Chr22:29489544 [GRCh38]
Chr22:29885533 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2057C>A (p.Ala686Glu) single nucleotide variant NEFH-related disorder [RCV003968629]|not provided [RCV001918837] Chr22:29489697 [GRCh38]
Chr22:29885686 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.760C>T (p.Gln254Ter) single nucleotide variant not provided [RCV001922217] Chr22:29481022 [GRCh38]
Chr22:29877011 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.607G>A (p.Ala203Thr) single nucleotide variant Inborn genetic diseases [RCV002352753]|not provided [RCV002026676] Chr22:29480869 [GRCh38]
Chr22:29876858 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2608C>T (p.Pro870Ser) single nucleotide variant Inborn genetic diseases [RCV002427514]|not provided [RCV002034342] Chr22:29490248 [GRCh38]
Chr22:29886237 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.711G>C (p.Glu237Asp) single nucleotide variant not provided [RCV002011317] Chr22:29480973 [GRCh38]
Chr22:29876962 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2891A>T (p.Lys964Met) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003134276]|not provided [RCV001936742] Chr22:29490531 [GRCh38]
Chr22:29886520 [GRCh37]
Chr22:22q12.2		 uncertain significance
NC_000022.10:g.(?_29083885)_(34046674_?)dup duplication not provided [RCV001979643] Chr22:29083885..34046674 [GRCh37]
Chr22:22q12.1-12.3		 uncertain significance
NM_021076.4(NEFH):c.1040C>G (p.Ser347Cys) single nucleotide variant Inborn genetic diseases [RCV002388873]|not provided [RCV001939112] Chr22:29483531 [GRCh38]
Chr22:29879520 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2557dup (p.Thr853fs) duplication not provided [RCV001884005] Chr22:29490192..29490193 [GRCh38]
Chr22:29886181..29886182 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.119C>T (p.Ala40Val) single nucleotide variant not provided [RCV001979693] Chr22:29480381 [GRCh38]
Chr22:29876370 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.968G>A (p.Arg323His) single nucleotide variant not provided [RCV001997977] Chr22:29483459 [GRCh38]
Chr22:29879448 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2461A>G (p.Lys821Glu) single nucleotide variant Inborn genetic diseases [RCV002442895]|NEFH-related disorder [RCV003395299]|not provided [RCV001981891] Chr22:29490101 [GRCh38]
Chr22:29886090 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.67A>G (p.Ser23Gly) single nucleotide variant not provided [RCV001875079] Chr22:29480329 [GRCh38]
Chr22:29876318 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1234C>T (p.Arg412Trp) single nucleotide variant not provided [RCV001960301] Chr22:29488874 [GRCh38]
Chr22:29884863 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2330C>T (p.Pro777Leu) single nucleotide variant Inborn genetic diseases [RCV002458814]|not provided [RCV001926041] Chr22:29489970 [GRCh38]
Chr22:29885959 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1466G>A (p.Gly489Asp) single nucleotide variant Inborn genetic diseases [RCV002388781]|not provided [RCV001882358] Chr22:29489106 [GRCh38]
Chr22:29885095 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.604C>G (p.Leu202Val) single nucleotide variant not provided [RCV001993485] Chr22:29480866 [GRCh38]
Chr22:29876855 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1982A>G (p.Lys661Arg) single nucleotide variant not provided [RCV001934906] Chr22:29489622 [GRCh38]
Chr22:29885611 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2833G>A (p.Ala945Thr) single nucleotide variant NEFH-related disorder [RCV004749800]|not provided [RCV001958048] Chr22:29490473 [GRCh38]
Chr22:29886462 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.127T>G (p.Ser43Ala) single nucleotide variant not provided [RCV001904012] Chr22:29480389 [GRCh38]
Chr22:29876378 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2137A>T (p.Lys713Ter) single nucleotide variant not provided [RCV002048982] Chr22:29489777 [GRCh38]
Chr22:29885766 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1936_1937insGAAAGTCCCCTGAGAAGG (p.Glu645_Ala646insGlyLysSerProGluLys) insertion not provided [RCV002047175] Chr22:29489575..29489576 [GRCh38]
Chr22:29885564..29885565 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1845G>A (p.Pro615=) single nucleotide variant NEFH-related disorder [RCV003892903]|not provided [RCV001870578] Chr22:29489485 [GRCh38]
Chr22:29885474 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.358G>A (p.Ala120Thr) single nucleotide variant not provided [RCV001875516] Chr22:29480620 [GRCh38]
Chr22:29876609 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2618A>G (p.Lys873Arg) single nucleotide variant not provided [RCV001989308] Chr22:29490258 [GRCh38]
Chr22:29886247 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1397TGACTGAAGAAG[1] (p.466VTEE[1]) microsatellite Inborn genetic diseases [RCV002388880]|not provided [RCV001931634] Chr22:29489034..29489045 [GRCh38]
Chr22:29885023..29885034 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.287G>T (p.Ser96Ile) single nucleotide variant not provided [RCV001933557] Chr22:29480549 [GRCh38]
Chr22:29876538 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2836_2838del (p.Glu946del) deletion not provided [RCV002048410] Chr22:29490476..29490478 [GRCh38]
Chr22:29886465..29886467 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2647G>A (p.Glu883Lys) single nucleotide variant not provided [RCV001918194] Chr22:29490287 [GRCh38]
Chr22:29886276 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1900T>C (p.Ser634Pro) single nucleotide variant Inborn genetic diseases [RCV002407066]|not provided [RCV001923245] Chr22:29489540 [GRCh38]
Chr22:29885529 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2004C>A (p.Ser668=) single nucleotide variant NEFH-related disorder [RCV004749837]|not provided [RCV002090101] Chr22:29489644 [GRCh38]
Chr22:29885633 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2015C>A (p.Ala672Glu) single nucleotide variant Inborn genetic diseases [RCV002423335]|not provided [RCV002205897] Chr22:29489655 [GRCh38]
Chr22:29885644 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.883+20G>C single nucleotide variant not provided [RCV002074678] Chr22:29481165 [GRCh38]
Chr22:29877154 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.867C>G (p.Ser289=) single nucleotide variant not provided [RCV002168350] Chr22:29481129 [GRCh38]
Chr22:29877118 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1731G>A (p.Glu577=) single nucleotide variant not provided [RCV002187280] Chr22:29489371 [GRCh38]
Chr22:29885360 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2236TCCCCAGAGAAGGCCAAG[1] (p.746SPEKAK[1]) microsatellite Inborn genetic diseases [RCV002443160]|NEFH-related disorder [RCV004749851]|not provided [RCV002111014] Chr22:29489873..29489890 [GRCh38]
Chr22:29885862..29885879 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2771A>C (p.Glu924Ala) single nucleotide variant not provided [RCV002126186] Chr22:29490411 [GRCh38]
Chr22:29886400 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2397G>A (p.Ala799=) single nucleotide variant not provided [RCV002166422] Chr22:29490037 [GRCh38]
Chr22:29886026 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2943C>T (p.Thr981=) single nucleotide variant not provided [RCV002128398] Chr22:29490583 [GRCh38]
Chr22:29886572 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1021T>A (p.Ser341Thr) single nucleotide variant not provided [RCV002224564] Chr22:29483512 [GRCh38]
Chr22:29879501 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1014C>T (p.Thr338=) single nucleotide variant NEFH-related disorder [RCV003950905]|not provided [RCV002186991] Chr22:29483505 [GRCh38]
Chr22:29879494 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1794C>T (p.Ala598=) single nucleotide variant not provided [RCV002129307] Chr22:29489434 [GRCh38]
Chr22:29885423 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.753G>A (p.Ala251=) single nucleotide variant not provided [RCV002073915] Chr22:29481015 [GRCh38]
Chr22:29877004 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1208+8G>A single nucleotide variant NEFH-related disorder [RCV003916300]|Peripheral neuropathy [RCV002293259]|not provided [RCV002128737] Chr22:29485855 [GRCh38]
Chr22:29881844 [GRCh37]
Chr22:22q12.2		 benign|likely benign|uncertain significance
NM_021076.4(NEFH):c.693G>A (p.Arg231=) single nucleotide variant not provided [RCV002166052] Chr22:29480955 [GRCh38]
Chr22:29876944 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2512C>G (p.Pro838Ala) single nucleotide variant Inborn genetic diseases [RCV004651939]|not provided [RCV002209452] Chr22:29490152 [GRCh38]
Chr22:29886141 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.787C>T (p.Leu263=) single nucleotide variant not provided [RCV002167558] Chr22:29481049 [GRCh38]
Chr22:29877038 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.372C>T (p.Ser124=) single nucleotide variant not provided [RCV002210473] Chr22:29480634 [GRCh38]
Chr22:29876623 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1083+20A>G single nucleotide variant not provided [RCV002146550] Chr22:29483594 [GRCh38]
Chr22:29879583 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.807G>C (p.Ser269=) single nucleotide variant not provided [RCV002147840] Chr22:29481069 [GRCh38]
Chr22:29877058 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.819G>A (p.Glu273=) single nucleotide variant not provided [RCV002135157] Chr22:29481081 [GRCh38]
Chr22:29877070 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.153A>G (p.Thr51=) single nucleotide variant not provided [RCV002088035] Chr22:29480415 [GRCh38]
Chr22:29876404 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1785G>A (p.Pro595=) single nucleotide variant not provided [RCV002189959] Chr22:29489425 [GRCh38]
Chr22:29885414 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2154C>T (p.Ser718=) single nucleotide variant not provided [RCV002116587] Chr22:29489794 [GRCh38]
Chr22:29885783 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.591G>C (p.Ala197=) single nucleotide variant not provided [RCV002196825] Chr22:29480853 [GRCh38]
Chr22:29876842 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.84A>G (p.Leu28=) single nucleotide variant not provided [RCV002126439] Chr22:29480346 [GRCh38]
Chr22:29876335 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.585C>T (p.Ala195=) single nucleotide variant NEFH-related disorder [RCV003895933]|not provided [RCV002135242] Chr22:29480847 [GRCh38]
Chr22:29876836 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2361C>G (p.Ser787Arg) single nucleotide variant not provided [RCV002130210] Chr22:29490001 [GRCh38]
Chr22:29885990 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.798C>T (p.Asp266=) single nucleotide variant not provided [RCV002174601] Chr22:29481060 [GRCh38]
Chr22:29877049 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1263G>A (p.Ser421=) single nucleotide variant not provided [RCV002189221] Chr22:29488903 [GRCh38]
Chr22:29884892 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1992G>T (p.Glu664Asp) single nucleotide variant not provided [RCV002214682] Chr22:29489632 [GRCh38]
Chr22:29885621 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1689G>A (p.Glu563=) single nucleotide variant not provided [RCV002095691] Chr22:29489329 [GRCh38]
Chr22:29885318 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1137C>T (p.Ala379=) single nucleotide variant NEFH-related disorder [RCV004749883]|not provided [RCV002206262] Chr22:29485776 [GRCh38]
Chr22:29881765 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.324C>T (p.Phe108=) single nucleotide variant not provided [RCV002128878] Chr22:29480586 [GRCh38]
Chr22:29876575 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2407C>T (p.Leu803=) single nucleotide variant not provided [RCV002147420] Chr22:29490047 [GRCh38]
Chr22:29886036 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1739C>T (p.Ser580Phe) single nucleotide variant Inborn genetic diseases [RCV002400338]|NEFH-related disorder [RCV003418388]|not provided [RCV002110821] Chr22:29489379 [GRCh38]
Chr22:29885368 [GRCh37]
Chr22:22q12.2		 benign|likely benign|uncertain significance
NM_021076.4(NEFH):c.2472G>A (p.Val824=) single nucleotide variant not provided [RCV002214744] Chr22:29490112 [GRCh38]
Chr22:29886101 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2157T>C (p.Pro719=) single nucleotide variant not provided [RCV002096668] Chr22:29489797 [GRCh38]
Chr22:29885786 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2753A>G (p.Glu918Gly) single nucleotide variant NEFH-related disorder [RCV004749881]|not provided [RCV002191588] Chr22:29490393 [GRCh38]
Chr22:29886382 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1644G>A (p.Glu548=) single nucleotide variant not provided [RCV002194292] Chr22:29489284 [GRCh38]
Chr22:29885273 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.771C>T (p.Ala257=) single nucleotide variant NEFH-related disorder [RCV004749839]|not provided [RCV002173125] Chr22:29481033 [GRCh38]
Chr22:29877022 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.810G>C (p.Ala270=) single nucleotide variant NEFH-related disorder [RCV003903368]|not provided [RCV002115402] Chr22:29481072 [GRCh38]
Chr22:29877061 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2731C>T (p.Pro911Ser) single nucleotide variant Inborn genetic diseases [RCV002454529]|not provided [RCV002131047] Chr22:29490371 [GRCh38]
Chr22:29886360 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.2574C>T (p.Asp858=) single nucleotide variant not provided [RCV002116635] Chr22:29490214 [GRCh38]
Chr22:29886203 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2031T>C (p.Pro677=) single nucleotide variant not provided [RCV002214251] Chr22:29489671 [GRCh38]
Chr22:29885660 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2073T>A (p.Pro691=) single nucleotide variant not provided [RCV002214252] Chr22:29489713 [GRCh38]
Chr22:29885702 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.727G>A (p.Gly243Ser) single nucleotide variant Inborn genetic diseases [RCV002386954]|NEFH-related disorder [RCV003948894]|not provided [RCV002077900] Chr22:29480989 [GRCh38]
Chr22:29876978 [GRCh37]
Chr22:22q12.2		 likely benign|conflicting interpretations of pathogenicity
NM_021076.4(NEFH):c.2856G>A (p.Pro952=) single nucleotide variant not provided [RCV002213475] Chr22:29490496 [GRCh38]
Chr22:29886485 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2130C>A (p.Ser710=) single nucleotide variant not provided [RCV002166752] Chr22:29489770 [GRCh38]
Chr22:29885759 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1925C>T (p.Thr642Met) single nucleotide variant NEFH-related disorder [RCV004749858]|not provided [RCV002113204] Chr22:29489565 [GRCh38]
Chr22:29885554 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.732G>A (p.Gln244=) single nucleotide variant not provided [RCV002116137] Chr22:29480994 [GRCh38]
Chr22:29876983 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1208+11C>T single nucleotide variant not provided [RCV002178999] Chr22:29485858 [GRCh38]
Chr22:29881847 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2043G>A (p.Lys681=) single nucleotide variant not provided [RCV002177548] Chr22:29489683 [GRCh38]
Chr22:29885672 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1743C>T (p.Pro581=) single nucleotide variant NEFH-related disorder [RCV003960896]|not provided [RCV002175844] Chr22:29489383 [GRCh38]
Chr22:29885372 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.1740C>G (p.Ser580=) single nucleotide variant not provided [RCV002139499] Chr22:29489380 [GRCh38]
Chr22:29885369 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2736C>G (p.Ala912=) single nucleotide variant not provided [RCV002084036] Chr22:29490376 [GRCh38]
Chr22:29886365 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.609G>A (p.Ala203=) single nucleotide variant not provided [RCV002200949] Chr22:29480871 [GRCh38]
Chr22:29876860 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1208+7C>T single nucleotide variant not provided [RCV002160976] Chr22:29485854 [GRCh38]
Chr22:29881843 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.777G>T (p.Thr259=) single nucleotide variant not provided [RCV002180479] Chr22:29481039 [GRCh38]
Chr22:29877028 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2946C>T (p.Leu982=) single nucleotide variant not provided [RCV002184434] Chr22:29490586 [GRCh38]
Chr22:29886575 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.336C>T (p.Ile112=) single nucleotide variant not provided [RCV002083280] Chr22:29480598 [GRCh38]
Chr22:29876587 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1569G>C (p.Glu523Asp) single nucleotide variant not provided [RCV002144441] Chr22:29489209 [GRCh38]
Chr22:29885198 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.883+8G>C single nucleotide variant not provided [RCV002083411] Chr22:29481153 [GRCh38]
Chr22:29877142 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1914C>T (p.Ala638=) single nucleotide variant not provided [RCV002175674] Chr22:29489554 [GRCh38]
Chr22:29885543 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.663G>A (p.Gln221=) single nucleotide variant not provided [RCV002179437] Chr22:29480925 [GRCh38]
Chr22:29876914 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.696C>G (p.Arg232=) single nucleotide variant not provided [RCV002216941] Chr22:29480958 [GRCh38]
Chr22:29876947 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2451G>A (p.Lys817=) single nucleotide variant not provided [RCV002177926] Chr22:29490091 [GRCh38]
Chr22:29886080 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2623GAG[1] (p.Glu876del) microsatellite Inborn genetic diseases [RCV002427718]|NEFH-related disorder [RCV004729100]|not provided [RCV002181846] Chr22:29490262..29490264 [GRCh38]
Chr22:29886251..29886253 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1536A>C (p.Pro512=) single nucleotide variant not provided [RCV002142475] Chr22:29489176 [GRCh38]
Chr22:29885165 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1626C>T (p.Ala542=) single nucleotide variant NEFH-related disorder [RCV003895924]|not provided [RCV002142571] Chr22:29489266 [GRCh38]
Chr22:29885255 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.81G>A (p.Ala27=) single nucleotide variant not provided [RCV002119222] Chr22:29480343 [GRCh38]
Chr22:29876332 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.3048C>T (p.Ala1016=) single nucleotide variant not provided [RCV002103724] Chr22:29490688 [GRCh38]
Chr22:29886677 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2625G>A (p.Glu875=) single nucleotide variant not provided [RCV002159619] Chr22:29490265 [GRCh38]
Chr22:29886254 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1002A>G (p.Ala334=) single nucleotide variant not provided [RCV002102295] Chr22:29483493 [GRCh38]
Chr22:29879482 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1209-15T>A single nucleotide variant not provided [RCV002154673] Chr22:29488834 [GRCh38]
Chr22:29884823 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.256G>A (p.Gly86Ser) single nucleotide variant NEFH-related disorder [RCV003426361]|not provided [RCV002198512] Chr22:29480518 [GRCh38]
Chr22:29876507 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.1812C>G (p.Ala604=) single nucleotide variant not provided [RCV002180217] Chr22:29489452 [GRCh38]
Chr22:29885441 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.883+20G>T single nucleotide variant not provided [RCV002203500] Chr22:29481165 [GRCh38]
Chr22:29877154 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1905G>A (p.Pro635=) single nucleotide variant not provided [RCV002123365] Chr22:29489545 [GRCh38]
Chr22:29885534 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2511G>A (p.Glu837=) single nucleotide variant not provided [RCV002220852] Chr22:29490151 [GRCh38]
Chr22:29886140 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1047G>T (p.Leu349=) single nucleotide variant NEFH-related disorder [RCV003916316]|not provided [RCV002140725] Chr22:29483538 [GRCh38]
Chr22:29879527 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1938A>C (p.Ala646=) single nucleotide variant not provided [RCV002161875] Chr22:29489578 [GRCh38]
Chr22:29885567 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1405G>A (p.Glu469Lys) single nucleotide variant not provided [RCV002162152] Chr22:29489045 [GRCh38]
Chr22:29885034 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.558C>T (p.Asp186=) single nucleotide variant not provided [RCV002220901] Chr22:29480820 [GRCh38]
Chr22:29876809 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.465C>A (p.Gly155=) single nucleotide variant not provided [RCV002102480] Chr22:29480727 [GRCh38]
Chr22:29876716 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1989T>A (p.Pro663=) single nucleotide variant not provided [RCV002156841] Chr22:29489629 [GRCh38]
Chr22:29885618 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1209-16G>A single nucleotide variant not provided [RCV002142027] Chr22:29488833 [GRCh38]
Chr22:29884822 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.2124C>T (p.Ala708=) single nucleotide variant not provided [RCV002099383] Chr22:29489764 [GRCh38]
Chr22:29885753 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2797C>T (p.Pro933Ser) single nucleotide variant Inborn genetic diseases [RCV002434482]|not provided [RCV002103150] Chr22:29490437 [GRCh38]
Chr22:29886426 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2082C>T (p.Ala694=) single nucleotide variant not provided [RCV002102917] Chr22:29489722 [GRCh38]
Chr22:29885711 [GRCh37]
Chr22:22q12.2		 likely benign
NC_000022.10:g.(?_29881692)_(29881856_?)del deletion not provided [RCV003109813] Chr22:29881692..29881856 [GRCh37]
Chr22:22q12.2		 uncertain significance
NC_000022.10:g.(?_29886470)_(29893470_?)del deletion not provided [RCV003109814] Chr22:29886470..29893470 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2414A>T (p.Glu805Val) single nucleotide variant not provided [RCV003116830] Chr22:29490054 [GRCh38]
Chr22:29886043 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.443G>C (p.Arg148Pro) single nucleotide variant not provided [RCV003112426] Chr22:29480705 [GRCh38]
Chr22:29876694 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2460G>A (p.Val820=) single nucleotide variant not provided [RCV003112580] Chr22:29490100 [GRCh38]
Chr22:29886089 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2705A>C (p.Lys902Thr) single nucleotide variant not provided [RCV003115388] Chr22:29490345 [GRCh38]
Chr22:29886334 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.417C>G (p.Arg139=) single nucleotide variant not provided [RCV003121793] Chr22:29480679 [GRCh38]
Chr22:29876668 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2414_2415delinsCA (p.Glu805Ala) indel not provided [RCV003121850] Chr22:29490054..29490055 [GRCh38]
Chr22:29886043..29886044 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.136G>T (p.Gly46Cys) single nucleotide variant not provided [RCV003118775] Chr22:29480398 [GRCh38]
Chr22:29876387 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2666A>G (p.Lys889Arg) single nucleotide variant not provided [RCV003120398] Chr22:29490306 [GRCh38]
Chr22:29886295 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2716C>A (p.Pro906Thr) single nucleotide variant not provided [RCV003120015] Chr22:29490356 [GRCh38]
Chr22:29886345 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.-3G>A single nucleotide variant not provided [RCV003156627] Chr22:29480260 [GRCh38]
Chr22:29876249 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2369AGG[2] (p.Glu792del) microsatellite Charcot-Marie-Tooth disease axonal type 2CC [RCV003131793] Chr22:29490009..29490011 [GRCh38]
Chr22:29885998..29886000 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1051_1052insTCCTCTGAGCTGGAGG (p.Asp351delinsValLeuTer) microsatellite not provided [RCV002265380] Chr22:29483528..29483529 [GRCh38]
Chr22:29879517..29879518 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2092G>A (p.Val698Met) single nucleotide variant not provided [RCV003666164] Chr22:29489732 [GRCh38]
Chr22:29885721 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2852C>T (p.Ala951Val) single nucleotide variant Inborn genetic diseases [RCV002435381]|NEFH-related disorder [RCV003961048]|not provided [RCV003102788]|not specified [RCV004690295] Chr22:29490492 [GRCh38]
Chr22:29886481 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.956C>G (p.Thr319Ser) single nucleotide variant not provided [RCV002279028] Chr22:29483447 [GRCh38]
Chr22:29879436 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1462G>C (p.Gly488Arg) single nucleotide variant not provided [RCV003326622]|not specified [RCV002282921] Chr22:29489102 [GRCh38]
Chr22:29885091 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1022C>T (p.Ser341Leu) single nucleotide variant not provided [RCV003236041] Chr22:29483513 [GRCh38]
Chr22:29879502 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.3(NEFH):c.-65G>C single nucleotide variant not provided [RCV002293948] Chr22:29480198 [GRCh38]
Chr22:29876187 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1209-3C>T single nucleotide variant not provided [RCV002286920] Chr22:29488846 [GRCh38]
Chr22:29884835 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1083+254= variation Amyotrophic lateral sclerosis [RCV002285184] Chr22:29483828..29483863 [GRCh38]
Chr22:29879817..29879852 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.665C>T (p.Ala222Val) single nucleotide variant Inborn genetic diseases [RCV002366887]|not provided [RCV003098323] Chr22:29480927 [GRCh38]
Chr22:29876916 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.35G>A (p.Gly12Asp) single nucleotide variant Inborn genetic diseases [RCV002455187]|not provided [RCV003102402] Chr22:29480297 [GRCh38]
Chr22:29876286 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.876G>T (p.Trp292Cys) single nucleotide variant not provided [RCV002297803] Chr22:29481138 [GRCh38]
Chr22:29877127 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2196_2232del (p.Pro733fs) deletion Inborn genetic diseases [RCV002420081] Chr22:29489836..29489872 [GRCh38]
Chr22:29885825..29885861 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2219_2242del (p.Val740_Pro747del) deletion Inborn genetic diseases [RCV002420111]|NEFH-related disorder [RCV003418525]|not provided [RCV003098726] Chr22:29489849..29489872 [GRCh38]
Chr22:29885838..29885861 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2219T>A (p.Val740Glu) single nucleotide variant Inborn genetic diseases [RCV002420114] Chr22:29489859 [GRCh38]
Chr22:29885848 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1209-4G>A single nucleotide variant Inborn genetic diseases [RCV002349909] Chr22:29488845 [GRCh38]
Chr22:29884834 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1095del (p.Gln365fs) deletion Charcot-Marie-Tooth disease axonal type 2CC [RCV002470530] Chr22:29485734 [GRCh38]
Chr22:29881723 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2014_2015insAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG (p.Lys671_Ala672insGluGluAlaLysSerProGluLysAlaLysSerProValLys) insertion Inborn genetic diseases [RCV002417384] Chr22:29489620..29489621 [GRCh38]
Chr22:29885609..29885610 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2190_2194del (p.Lys731fs) deletion Inborn genetic diseases [RCV002417962] Chr22:29489830..29489834 [GRCh38]
Chr22:29885819..29885823 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.564G>T (p.Glu188Asp) single nucleotide variant Inborn genetic diseases [RCV002345187]|not provided [RCV003103209] Chr22:29480826 [GRCh38]
Chr22:29876815 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1680_1697del (p.Pro562_Pro567del) deletion Inborn genetic diseases [RCV002414532]|not provided [RCV003108081] Chr22:29489315..29489332 [GRCh38]
Chr22:29885304..29885321 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2122_2123delinsAA (p.Ala708Asn) indel Inborn genetic diseases [RCV002417638] Chr22:29489762..29489763 [GRCh38]
Chr22:29885751..29885752 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2429C>T (p.Pro810Leu) single nucleotide variant Inborn genetic diseases [RCV002459856]|NEFH-related disorder [RCV004749905]|not provided [RCV003775245] Chr22:29490069 [GRCh38]
Chr22:29886058 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2348A>G (p.Glu783Gly) single nucleotide variant Inborn genetic diseases [RCV002428537] Chr22:29489988 [GRCh38]
Chr22:29885977 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1718A>T (p.Lys573Ile) single nucleotide variant not provided [RCV002295215] Chr22:29489358 [GRCh38]
Chr22:29885347 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1973A>C (p.Glu658Ala) single nucleotide variant Inborn genetic diseases [RCV002423527] Chr22:29489613 [GRCh38]
Chr22:29885602 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.941C>T (p.Ala314Val) single nucleotide variant Inborn genetic diseases [RCV002373981]|not provided [RCV003094806] Chr22:29483432 [GRCh38]
Chr22:29879421 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.916G>A (p.Val306Met) single nucleotide variant Inborn genetic diseases [RCV002378860]|not provided [RCV003669295] Chr22:29483407 [GRCh38]
Chr22:29879396 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1490G>A (p.Gly497Glu) single nucleotide variant Inborn genetic diseases [RCV002389691]|NEFH-related disorder [RCV003961031] Chr22:29489130 [GRCh38]
Chr22:29885119 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2306C>T (p.Pro769Leu) single nucleotide variant Inborn genetic diseases [RCV002446383]|not provided [RCV003098797] Chr22:29489946 [GRCh38]
Chr22:29885935 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2347G>A (p.Glu783Lys) single nucleotide variant not provided [RCV002306331] Chr22:29489987 [GRCh38]
Chr22:29885976 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.469_491dup (p.Gly165fs) duplication Inborn genetic diseases [RCV002335255]|not provided [RCV003718504] Chr22:29480720..29480721 [GRCh38]
Chr22:29876709..29876710 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.819G>C (p.Glu273Asp) single nucleotide variant Inborn genetic diseases [RCV002427885] Chr22:29481081 [GRCh38]
Chr22:29877070 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1684_1785del (p.Pro562_Pro595del) deletion Inborn genetic diseases [RCV002406068]|not provided [RCV004546724] Chr22:29489297..29489398 [GRCh38]
Chr22:29885286..29885387 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1780T>G (p.Ser594Ala) single nucleotide variant Inborn genetic diseases [RCV002404090]|not provided [RCV003100834] Chr22:29489420 [GRCh38]
Chr22:29885409 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1379A>G (p.Gln460Arg) single nucleotide variant Inborn genetic diseases [RCV002381105]|NEFH-related disorder [RCV003408262]|not specified [RCV003988005] Chr22:29489019 [GRCh38]
Chr22:29885008 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2081C>A (p.Ala694Asp) single nucleotide variant Inborn genetic diseases [RCV002423879] Chr22:29489721 [GRCh38]
Chr22:29885710 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.14G>C (p.Gly5Ala) single nucleotide variant Inborn genetic diseases [RCV002389900]|NEFH-related disorder [RCV003418496]|not provided [RCV003095245] Chr22:29480276 [GRCh38]
Chr22:29876265 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1090A>G (p.Ile364Val) single nucleotide variant Inborn genetic diseases [RCV002457492]|not provided [RCV003098780] Chr22:29485729 [GRCh38]
Chr22:29881718 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2093T>A (p.Val698Glu) single nucleotide variant Inborn genetic diseases [RCV002424075] Chr22:29489733 [GRCh38]
Chr22:29885722 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2527G>A (p.Glu843Lys) single nucleotide variant not provided [RCV002295621] Chr22:29490167 [GRCh38]
Chr22:29886156 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.910G>C (p.Ala304Pro) single nucleotide variant Inborn genetic diseases [RCV002378671]|not provided [RCV003100099] Chr22:29483401 [GRCh38]
Chr22:29879390 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.556G>C (p.Asp186His) single nucleotide variant Inborn genetic diseases [RCV002352053] Chr22:29480818 [GRCh38]
Chr22:29876807 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.716G>A (p.Gly239Asp) single nucleotide variant Inborn genetic diseases [RCV002378390]|not provided [RCV003098486] Chr22:29480978 [GRCh38]
Chr22:29876967 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1058A>T (p.His353Leu) single nucleotide variant not provided [RCV002295225] Chr22:29483549 [GRCh38]
Chr22:29879538 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2368A>G (p.Lys790Glu) single nucleotide variant Inborn genetic diseases [RCV002450148]|not provided [RCV003098827] Chr22:29490008 [GRCh38]
Chr22:29885997 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.3044_3045del (p.Lys1015fs) deletion Inborn genetic diseases [RCV002444028] Chr22:29490684..29490685 [GRCh38]
Chr22:29886673..29886674 [GRCh37]
Chr22:22q12.2		 likely pathogenic
NM_021076.4(NEFH):c.3049G>A (p.Ala1017Thr) single nucleotide variant Inborn genetic diseases [RCV002444065]|not provided [RCV003102999] Chr22:29490689 [GRCh38]
Chr22:29886678 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.605T>G (p.Leu202Arg) single nucleotide variant Inborn genetic diseases [RCV002358318] Chr22:29480867 [GRCh38]
Chr22:29876856 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.868G>C (p.Glu290Gln) single nucleotide variant Inborn genetic diseases [RCV002373389]|not provided [RCV003103524] Chr22:29481130 [GRCh38]
Chr22:29877119 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1810G>A (p.Ala604Thr) single nucleotide variant Inborn genetic diseases [RCV002410171]|not provided [RCV003774514] Chr22:29489450 [GRCh38]
Chr22:29885439 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2476GAG[2] (p.Glu828del) microsatellite Inborn genetic diseases [RCV002430804] Chr22:29490114..29490116 [GRCh38]
Chr22:29886103..29886105 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.767A>G (p.Gln256Arg) single nucleotide variant Inborn genetic diseases [RCV002400471]|not provided [RCV003776425] Chr22:29481029 [GRCh38]
Chr22:29877018 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1039T>A (p.Ser347Thr) single nucleotide variant Inborn genetic diseases [RCV002397158] Chr22:29483530 [GRCh38]
Chr22:29879519 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1476_1499del (p.Glu493_Glu500del) deletion Inborn genetic diseases [RCV002397030] Chr22:29489108..29489131 [GRCh38]
Chr22:29885097..29885120 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.271G>T (p.Val91Leu) single nucleotide variant Inborn genetic diseases [RCV002431278]|not provided [RCV003730226] Chr22:29480533 [GRCh38]
Chr22:29876522 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2237C>T (p.Ser746Phe) single nucleotide variant Inborn genetic diseases [RCV002428315]|not provided [RCV003098740] Chr22:29489877 [GRCh38]
Chr22:29885866 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1252A>G (p.Ile418Val) single nucleotide variant Inborn genetic diseases [RCV002412261]|not provided [RCV003099765] Chr22:29488892 [GRCh38]
Chr22:29884881 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2232_2233insCCCCAGTGAAGGAAGAAGCC (p.Lys745delinsProGlnTer) insertion Inborn genetic diseases [RCV002428258] Chr22:29489872..29489873 [GRCh38]
Chr22:29885861..29885862 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.3019C>A (p.Pro1007Thr) single nucleotide variant not provided [RCV002303363] Chr22:29490659 [GRCh38]
Chr22:29886648 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1762G>A (p.Ala588Thr) single nucleotide variant Inborn genetic diseases [RCV002401682]|not provided [RCV003097220] Chr22:29489402 [GRCh38]
Chr22:29885391 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2803G>C (p.Asp935His) single nucleotide variant Inborn genetic diseases [RCV002441615] Chr22:29490443 [GRCh38]
Chr22:29886432 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.65G>A (p.Gly22Asp) single nucleotide variant not provided [RCV002301233] Chr22:29480327 [GRCh38]
Chr22:29876316 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1924A>T (p.Thr642Ser) single nucleotide variant Inborn genetic diseases [RCV002410778] Chr22:29489564 [GRCh38]
Chr22:29885553 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2197C>T (p.Pro733Ser) single nucleotide variant Inborn genetic diseases [RCV002425611] Chr22:29489837 [GRCh38]
Chr22:29885826 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2696A>G (p.Asp899Gly) single nucleotide variant Inborn genetic diseases [RCV002428966]|not provided [RCV003102117] Chr22:29490336 [GRCh38]
Chr22:29886325 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1846G>C (p.Ala616Pro) single nucleotide variant Inborn genetic diseases [RCV002412939] Chr22:29489486 [GRCh38]
Chr22:29885475 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.829C>G (p.Gln277Glu) single nucleotide variant Inborn genetic diseases [RCV002430304] Chr22:29481091 [GRCh38]
Chr22:29877080 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2591C>A (p.Ala864Glu) single nucleotide variant Inborn genetic diseases [RCV002426148] Chr22:29490231 [GRCh38]
Chr22:29886220 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1936G>C (p.Ala646Pro) single nucleotide variant Inborn genetic diseases [RCV002411004] Chr22:29489576 [GRCh38]
Chr22:29885565 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1682C>T (p.Pro561Leu) single nucleotide variant Inborn genetic diseases [RCV002406051]|NEFH-related disorder [RCV003408272]|not provided [RCV003565554] Chr22:29489322 [GRCh38]
Chr22:29885311 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.67A>T (p.Ser23Cys) single nucleotide variant not provided [RCV002299407] Chr22:29480329 [GRCh38]
Chr22:29876318 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.148T>C (p.Trp50Arg) single nucleotide variant not provided [RCV002299409] Chr22:29480410 [GRCh38]
Chr22:29876399 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.775A>G (p.Thr259Ala) single nucleotide variant Inborn genetic diseases [RCV002409697]|not provided [RCV003738223] Chr22:29481037 [GRCh38]
Chr22:29877026 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1949A>T (p.Glu650Val) single nucleotide variant Inborn genetic diseases [RCV002413299] Chr22:29489589 [GRCh38]
Chr22:29885578 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2777C>T (p.Thr926Ile) single nucleotide variant Inborn genetic diseases [RCV002439671]|not provided [RCV003102200] Chr22:29490417 [GRCh38]
Chr22:29886406 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.588G>C (p.Glu196Asp) single nucleotide variant Inborn genetic diseases [RCV002353581] Chr22:29480850 [GRCh38]
Chr22:29876839 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.163G>C (p.Val55Leu) single nucleotide variant Inborn genetic diseases [RCV002403535]|not provided [RCV003774426] Chr22:29480425 [GRCh38]
Chr22:29876414 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2569A>G (p.Lys857Glu) single nucleotide variant not provided [RCV002775709] Chr22:29490209 [GRCh38]
Chr22:29886198 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.666G>T (p.Ala222=) single nucleotide variant not provided [RCV002858608] Chr22:29480928 [GRCh38]
Chr22:29876917 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1341G>C (p.Val447=) single nucleotide variant not provided [RCV002903540] Chr22:29488981 [GRCh38]
Chr22:29884970 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1964_1965insTGAGAAGGCCAAGTCGCC (p.Lys657_Glu658insAlaLysSerProGluLys) insertion not provided [RCV002615881] Chr22:29489602..29489603 [GRCh38]
Chr22:29885591..29885592 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.207C>G (p.Gly69=) single nucleotide variant not provided [RCV002614363] Chr22:29480469 [GRCh38]
Chr22:29876458 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.547C>T (p.Gln183Ter) single nucleotide variant not provided [RCV002614410] Chr22:29480809 [GRCh38]
Chr22:29876798 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2900A>G (p.Glu967Gly) single nucleotide variant not provided [RCV003015594] Chr22:29490540 [GRCh38]
Chr22:29886529 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.251C>T (p.Pro84Leu) single nucleotide variant not provided [RCV002685533] Chr22:29480513 [GRCh38]
Chr22:29876502 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.923C>T (p.Thr308Ile) single nucleotide variant not provided [RCV002774822] Chr22:29483414 [GRCh38]
Chr22:29879403 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1555C>T (p.Pro519Ser) single nucleotide variant not provided [RCV003016183] Chr22:29489195 [GRCh38]
Chr22:29885184 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.170C>G (p.Ser57Cys) single nucleotide variant Inborn genetic diseases [RCV002901977] Chr22:29480432 [GRCh38]
Chr22:29876421 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1414G>A (p.Glu472Lys) single nucleotide variant not provided [RCV002996433] Chr22:29489054 [GRCh38]
Chr22:29885043 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2378T>A (p.Val793Asp) single nucleotide variant not provided [RCV002843143] Chr22:29490018 [GRCh38]
Chr22:29886007 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2282T>G (p.Val761Gly) single nucleotide variant not provided [RCV002975334] Chr22:29489922 [GRCh38]
Chr22:29885911 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.772G>T (p.Glu258Ter) single nucleotide variant not provided [RCV002731589] Chr22:29481034 [GRCh38]
Chr22:29877023 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.328G>A (p.Gly110Arg) single nucleotide variant not provided [RCV002843482] Chr22:29480590 [GRCh38]
Chr22:29876579 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2492AGG[1] (p.Glu832del) microsatellite not provided [RCV002730410] Chr22:29490132..29490134 [GRCh38]
Chr22:29886121..29886123 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1774G>A (p.Ala592Thr) single nucleotide variant NEFH-related disorder [RCV004749951]|not provided [RCV002734783] Chr22:29489414 [GRCh38]
Chr22:29885403 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2260G>A (p.Glu754Lys) single nucleotide variant not provided [RCV003013180] Chr22:29489900 [GRCh38]
Chr22:29885889 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.60C>G (p.Gly20=) single nucleotide variant not provided [RCV003012121] Chr22:29480322 [GRCh38]
Chr22:29876311 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.751G>C (p.Ala251Pro) single nucleotide variant Inborn genetic diseases [RCV002728405] Chr22:29481013 [GRCh38]
Chr22:29877002 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1084-8C>T single nucleotide variant not provided [RCV002681858] Chr22:29485715 [GRCh38]
Chr22:29881704 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.41dup (p.Phe15fs) duplication Charcot-Marie-Tooth disease axonal type 2CC [RCV002510382]|not provided [RCV002574734] Chr22:29480299..29480300 [GRCh38]
Chr22:29876288..29876289 [GRCh37]
Chr22:22q12.2		 likely pathogenic|uncertain significance
NM_021076.4(NEFH):c.1198_1205del (p.Ala400fs) deletion not provided [RCV002996173] Chr22:29485835..29485842 [GRCh38]
Chr22:29881824..29881831 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2410A>T (p.Lys804Ter) single nucleotide variant NEFH-related disorder [RCV004750250]|not provided [RCV003032672] Chr22:29490050 [GRCh38]
Chr22:29886039 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2061A>G (p.Glu687=) single nucleotide variant not provided [RCV002686345] Chr22:29489701 [GRCh38]
Chr22:29885690 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1208+4A>T single nucleotide variant not provided [RCV002994920] Chr22:29485851 [GRCh38]
Chr22:29881840 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1628_1629del (p.Glu543fs) deletion Inborn genetic diseases [RCV002865550] Chr22:29489268..29489269 [GRCh38]
Chr22:29885257..29885258 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.890T>C (p.Leu297Pro) single nucleotide variant Inborn genetic diseases [RCV002865574] Chr22:29483381 [GRCh38]
Chr22:29879370 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2945T>C (p.Leu982Pro) single nucleotide variant not provided [RCV003015876] Chr22:29490585 [GRCh38]
Chr22:29886574 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.162C>T (p.Ser54=) single nucleotide variant not provided [RCV002975349] Chr22:29480424 [GRCh38]
Chr22:29876413 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.688C>G (p.Leu230Val) single nucleotide variant not provided [RCV002755702] Chr22:29480950 [GRCh38]
Chr22:29876939 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1602G>A (p.Glu534=) single nucleotide variant not provided [RCV002993896] Chr22:29489242 [GRCh38]
Chr22:29885231 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1276C>T (p.Leu426Phe) single nucleotide variant not provided [RCV002695011] Chr22:29488916 [GRCh38]
Chr22:29884905 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.3018G>A (p.Lys1006=) single nucleotide variant NEFH-related disorder [RCV004725343]|not provided [RCV002662761] Chr22:29490658 [GRCh38]
Chr22:29886647 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2604G>A (p.Glu868=) single nucleotide variant not provided [RCV002593294] Chr22:29490244 [GRCh38]
Chr22:29886233 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1420GAG[1] (p.Glu475del) microsatellite not provided [RCV003021535] Chr22:29489060..29489062 [GRCh38]
Chr22:29885049..29885051 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1558G>A (p.Val520Ile) single nucleotide variant not provided [RCV002949004] Chr22:29489198 [GRCh38]
Chr22:29885187 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2310G>A (p.Ala770=) single nucleotide variant NEFH-related disorder [RCV003943421]|not provided [RCV002571732] Chr22:29489950 [GRCh38]
Chr22:29885939 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1104C>T (p.Asp368=) single nucleotide variant not provided [RCV002572069] Chr22:29485743 [GRCh38]
Chr22:29881732 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.475C>T (p.Arg159Cys) single nucleotide variant not provided [RCV002636378] Chr22:29480737 [GRCh38]
Chr22:29876726 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1471G>T (p.Glu491Ter) single nucleotide variant not provided [RCV002979572] Chr22:29489111 [GRCh38]
Chr22:29885100 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.15C>T (p.Gly5=) single nucleotide variant NEFH-related disorder [RCV004749934]|not provided [RCV002638780] Chr22:29480277 [GRCh38]
Chr22:29876266 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2603A>G (p.Glu868Gly) single nucleotide variant not provided [RCV003053783] Chr22:29490243 [GRCh38]
Chr22:29886232 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2122G>T (p.Ala708Ser) single nucleotide variant not provided [RCV002591499] Chr22:29489762 [GRCh38]
Chr22:29885751 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.511C>T (p.Gln171Ter) single nucleotide variant not provided [RCV002923597] Chr22:29480773 [GRCh38]
Chr22:29876762 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1755G>A (p.Lys585=) single nucleotide variant not provided [RCV002760892] Chr22:29489395 [GRCh38]
Chr22:29885384 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.909A>G (p.Ala303=) single nucleotide variant not provided [RCV002639680] Chr22:29483400 [GRCh38]
Chr22:29879389 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1083+19_1083+20delinsTT indel not provided [RCV002889124] Chr22:29483593..29483594 [GRCh38]
Chr22:29879582..29879583 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2382G>A (p.Lys794=) single nucleotide variant NEFH-related disorder [RCV003916510]|not provided [RCV002640047] Chr22:29490022 [GRCh38]
Chr22:29886011 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.608_622dup (p.Gln207_Glu208insAlaArgPheAlaGln) duplication not provided [RCV002979303] Chr22:29480867..29480868 [GRCh38]
Chr22:29876856..29876857 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.247G>C (p.Gly83Arg) single nucleotide variant not provided [RCV002621377] Chr22:29480509 [GRCh38]
Chr22:29876498 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.726C>G (p.Leu242=) single nucleotide variant not provided [RCV002690882] Chr22:29480988 [GRCh38]
Chr22:29876977 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1513C>T (p.Pro505Ser) single nucleotide variant not provided [RCV003020251] Chr22:29489153 [GRCh38]
Chr22:29885142 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.222C>T (p.Thr74=) single nucleotide variant not provided [RCV002619349] Chr22:29480484 [GRCh38]
Chr22:29876473 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.410C>T (p.Ala137Val) single nucleotide variant not provided [RCV002590622] Chr22:29480672 [GRCh38]
Chr22:29876661 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.158C>T (p.Thr53Met) single nucleotide variant not provided [RCV003100199] Chr22:29480420 [GRCh38]
Chr22:29876409 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2129C>G (p.Ser710Cys) single nucleotide variant not provided [RCV002998683] Chr22:29489769 [GRCh38]
Chr22:29885758 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1208+14G>A single nucleotide variant not provided [RCV002591307] Chr22:29485861 [GRCh38]
Chr22:29881850 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2113C>T (p.Pro705Ser) single nucleotide variant not provided [RCV002706409] Chr22:29489753 [GRCh38]
Chr22:29885742 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.117C>T (p.Ser39=) single nucleotide variant not provided [RCV003054640] Chr22:29480379 [GRCh38]
Chr22:29876368 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2811G>A (p.Lys937=) single nucleotide variant not provided [RCV002695237] Chr22:29490451 [GRCh38]
Chr22:29886440 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2138A>G (p.Lys713Arg) single nucleotide variant not provided [RCV003019151] Chr22:29489778 [GRCh38]
Chr22:29885767 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.871G>A (p.Glu291Lys) single nucleotide variant Inborn genetic diseases [RCV002888587] Chr22:29481133 [GRCh38]
Chr22:29877122 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2977A>G (p.Lys993Glu) single nucleotide variant not provided [RCV003080580] Chr22:29490617 [GRCh38]
Chr22:29886606 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2208C>G (p.Ala736=) single nucleotide variant not provided [RCV003035882] Chr22:29489848 [GRCh38]
Chr22:29885837 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2010G>A (p.Val670=) single nucleotide variant not provided [RCV002622269] Chr22:29489650 [GRCh38]
Chr22:29885639 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV002592840] Chr22:29480442 [GRCh38]
Chr22:29876431 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.895C>T (p.Arg299Ter) single nucleotide variant not provided [RCV002695201] Chr22:29483386 [GRCh38]
Chr22:29879375 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1627G>A (p.Glu543Lys) single nucleotide variant not provided [RCV002597105] Chr22:29489267 [GRCh38]
Chr22:29885256 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.499C>G (p.Leu167Val) single nucleotide variant not provided [RCV002666836] Chr22:29480761 [GRCh38]
Chr22:29876750 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.976C>T (p.Gln326Ter) single nucleotide variant NEFH-related disorder [RCV004725462]|not provided [RCV003026002] Chr22:29483467 [GRCh38]
Chr22:29879456 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.566C>T (p.Ala189Val) single nucleotide variant Inborn genetic diseases [RCV002584376]|not provided [RCV002596705] Chr22:29480828 [GRCh38]
Chr22:29876817 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.848T>C (p.Val283Ala) single nucleotide variant not provided [RCV002643063] Chr22:29481110 [GRCh38]
Chr22:29877099 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.786C>T (p.Ala262=) single nucleotide variant not provided [RCV003042480] Chr22:29481048 [GRCh38]
Chr22:29877037 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.184C>T (p.Pro62Ser) single nucleotide variant Inborn genetic diseases [RCV002853597] Chr22:29480446 [GRCh38]
Chr22:29876435 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.855C>A (p.Ser285Arg) single nucleotide variant not provided [RCV003041407] Chr22:29481117 [GRCh38]
Chr22:29877106 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.906G>A (p.Glu302=) single nucleotide variant not provided [RCV002829554] Chr22:29483397 [GRCh38]
Chr22:29879386 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2653C>G (p.Pro885Ala) single nucleotide variant NEFH-related disorder [RCV004749962]|not provided [RCV002790989] Chr22:29490293 [GRCh38]
Chr22:29886282 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1533C>T (p.Ser511=) single nucleotide variant not provided [RCV002667068] Chr22:29489173 [GRCh38]
Chr22:29885162 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2855C>T (p.Pro952Leu) single nucleotide variant not provided [RCV002667659] Chr22:29490495 [GRCh38]
Chr22:29886484 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.124G>A (p.Gly42Ser) single nucleotide variant not provided [RCV002666530] Chr22:29480386 [GRCh38]
Chr22:29876375 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.382G>A (p.Glu128Lys) single nucleotide variant not provided [RCV002597310] Chr22:29480644 [GRCh38]
Chr22:29876633 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1405dup (p.Glu469fs) duplication not provided [RCV003042056] Chr22:29489044..29489045 [GRCh38]
Chr22:29885033..29885034 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2911A>G (p.Thr971Ala) single nucleotide variant not provided [RCV003059715] Chr22:29490551 [GRCh38]
Chr22:29886540 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.380G>T (p.Gly127Val) single nucleotide variant not provided [RCV002790637] Chr22:29480642 [GRCh38]
Chr22:29876631 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2566A>G (p.Lys856Glu) single nucleotide variant Inborn genetic diseases [RCV004067703]|not provided [RCV002710608] Chr22:29490206 [GRCh38]
Chr22:29886195 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.486G>A (p.Ala162=) single nucleotide variant not provided [RCV002853331] Chr22:29480748 [GRCh38]
Chr22:29876737 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1311G>A (p.Lys437=) single nucleotide variant not provided [RCV002876519] Chr22:29488951 [GRCh38]
Chr22:29884940 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2478G>A (p.Glu826=) single nucleotide variant not provided [RCV003043365] Chr22:29490118 [GRCh38]
Chr22:29886107 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1238T>A (p.Ile413Asn) single nucleotide variant not provided [RCV002933290] Chr22:29488878 [GRCh38]
Chr22:29884867 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.517C>A (p.His173Asn) single nucleotide variant not provided [RCV002596617] Chr22:29480779 [GRCh38]
Chr22:29876768 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.423T>C (p.Ala141=) single nucleotide variant not provided [RCV002643409] Chr22:29480685 [GRCh38]
Chr22:29876674 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.851A>C (p.Gln284Pro) single nucleotide variant Inborn genetic diseases [RCV004064360]|not provided [RCV002573981] Chr22:29481113 [GRCh38]
Chr22:29877102 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2405C>T (p.Pro802Leu) single nucleotide variant not provided [RCV003024132] Chr22:29490045 [GRCh38]
Chr22:29886034 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2782G>T (p.Val928Leu) single nucleotide variant not provided [RCV002954229] Chr22:29490422 [GRCh38]
Chr22:29886411 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.491_492delinsTT (p.Arg164Leu) indel not provided [RCV002573046] Chr22:29480753..29480754 [GRCh38]
Chr22:29876742..29876743 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.734T>G (p.Ile245Ser) single nucleotide variant Inborn genetic diseases [RCV002875238]|not provided [RCV003777896] Chr22:29480996 [GRCh38]
Chr22:29876985 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.3008_3009del (p.Lys1003fs) deletion not provided [RCV003041408] Chr22:29490645..29490646 [GRCh38]
Chr22:29886634..29886635 [GRCh37]
Chr22:22q12.2		 pathogenic
NM_021076.4(NEFH):c.2185G>A (p.Glu729Lys) single nucleotide variant NEFH-related disorder [RCV004749921]|not provided [RCV002625472] Chr22:29489825 [GRCh38]
Chr22:29885814 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1444G>A (p.Glu482Lys) single nucleotide variant Inborn genetic diseases [RCV002955034] Chr22:29489084 [GRCh38]
Chr22:29885073 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1215C>A (p.Leu405=) single nucleotide variant not provided [RCV002594126] Chr22:29488855 [GRCh38]
Chr22:29884844 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.89G>A (p.Arg30Gln) single nucleotide variant Inborn genetic diseases [RCV002763559] Chr22:29480351 [GRCh38]
Chr22:29876340 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1492GAA[2] (p.Glu500del) microsatellite not provided [RCV002625492] Chr22:29489131..29489133 [GRCh38]
Chr22:29885120..29885122 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1865T>C (p.Val622Ala) single nucleotide variant not provided [RCV003023148] Chr22:29489505 [GRCh38]
Chr22:29885494 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.242G>A (p.Ser81Asn) single nucleotide variant not provided [RCV002710883] Chr22:29480504 [GRCh38]
Chr22:29876493 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1551G>C (p.Lys517Asn) single nucleotide variant Inborn genetic diseases [RCV002826427] Chr22:29489191 [GRCh38]
Chr22:29885180 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2391G>A (p.Glu797=) single nucleotide variant not provided [RCV002710147] Chr22:29490031 [GRCh38]
Chr22:29886020 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.508G>A (p.Glu170Lys) single nucleotide variant not provided [RCV003042124] Chr22:29480770 [GRCh38]
Chr22:29876759 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2161A>G (p.Lys721Glu) single nucleotide variant not provided [RCV002933144] Chr22:29489801 [GRCh38]
Chr22:29885790 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.903G>A (p.Ser301=) single nucleotide variant not provided [RCV002595670] Chr22:29483394 [GRCh38]
Chr22:29879383 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.1208+20T>A single nucleotide variant not provided [RCV003024697] Chr22:29485867 [GRCh38]
Chr22:29881856 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2646C>T (p.Val882=) single nucleotide variant not provided [RCV002574506] Chr22:29490286 [GRCh38]
Chr22:29886275 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2551C>T (p.Pro851Ser) single nucleotide variant not provided [RCV002701417] Chr22:29490191 [GRCh38]
Chr22:29886180 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.76T>C (p.Tyr26His) single nucleotide variant not provided [RCV002643439] Chr22:29480338 [GRCh38]
Chr22:29876327 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.258C>G (p.Gly86=) single nucleotide variant not provided [RCV003041571] Chr22:29480520 [GRCh38]
Chr22:29876509 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1209-19_1209-15del deletion not provided [RCV003023832] Chr22:29488828..29488832 [GRCh38]
Chr22:29884817..29884821 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.252G>T (p.Pro84=) single nucleotide variant not provided [RCV002851189] Chr22:29480514 [GRCh38]
Chr22:29876503 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.631G>A (p.Ala211Thr) single nucleotide variant not provided [RCV003059585] Chr22:29480893 [GRCh38]
Chr22:29876882 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.516G>A (p.Glu172=) single nucleotide variant not provided [RCV002890107] Chr22:29480778 [GRCh38]
Chr22:29876767 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1742C>G (p.Pro581Arg) single nucleotide variant Inborn genetic diseases [RCV002641876] Chr22:29489382 [GRCh38]
Chr22:29885371 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.470_487del (p.Val157_Ala162del) deletion not provided [RCV002894040] Chr22:29480725..29480742 [GRCh38]
Chr22:29876714..29876731 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.988A>T (p.Thr330Ser) single nucleotide variant not provided [RCV003059469] Chr22:29483479 [GRCh38]
Chr22:29879468 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.794G>A (p.Cys265Tyr) single nucleotide variant not provided [RCV002642561] Chr22:29481056 [GRCh38]
Chr22:29877045 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.311T>A (p.Leu104Gln) single nucleotide variant not provided [RCV003059208] Chr22:29480573 [GRCh38]
Chr22:29876562 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.902C>T (p.Ser301Leu) single nucleotide variant NEFH-related disorder [RCV003409874]|not provided [RCV002575436] Chr22:29483393 [GRCh38]
Chr22:29879382 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2544T>G (p.Pro848=) single nucleotide variant not provided [RCV002829778] Chr22:29490184 [GRCh38]
Chr22:29886173 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.471_495dup (p.Gln166fs) duplication not provided [RCV002852453] Chr22:29480725..29480726 [GRCh38]
Chr22:29876714..29876715 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1186G>T (p.Asp396Tyr) single nucleotide variant not provided [RCV002667162] Chr22:29485825 [GRCh38]
Chr22:29881814 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.716G>T (p.Gly239Val) single nucleotide variant not provided [RCV003059244] Chr22:29480978 [GRCh38]
Chr22:29876967 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.471G>C (p.Val157=) single nucleotide variant not provided [RCV002875819] Chr22:29480733 [GRCh38]
Chr22:29876722 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2027C>G (p.Ser676Cys) single nucleotide variant not provided [RCV003025335] Chr22:29489667 [GRCh38]
Chr22:29885656 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1141C>T (p.Gln381Ter) single nucleotide variant Inborn genetic diseases [RCV002642799]|NEFH-related disorder [RCV004749935]|not provided [RCV002627652] Chr22:29485780 [GRCh38]
Chr22:29881769 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.303G>T (p.Leu101=) single nucleotide variant not provided [RCV002572300] Chr22:29480565 [GRCh38]
Chr22:29876554 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2190_2231del (p.Thr732_Lys745del) deletion not provided [RCV003086681] Chr22:29489798..29489839 [GRCh38]
Chr22:29885787..29885828 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.165G>A (p.Val55=) single nucleotide variant not provided [RCV002581460] Chr22:29480427 [GRCh38]
Chr22:29876416 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.690G>A (p.Leu230=) single nucleotide variant not provided [RCV002966745] Chr22:29480952 [GRCh38]
Chr22:29876941 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2279A>C (p.Asp760Ala) single nucleotide variant not provided [RCV002598262] Chr22:29489919 [GRCh38]
Chr22:29885908 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2338A>C (p.Lys780Gln) single nucleotide variant not provided [RCV003029647] Chr22:29489978 [GRCh38]
Chr22:29885967 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.289G>C (p.Glu97Gln) single nucleotide variant not provided [RCV002599694] Chr22:29480551 [GRCh38]
Chr22:29876540 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.784G>T (p.Ala262Ser) single nucleotide variant not provided [RCV003010253] Chr22:29481046 [GRCh38]
Chr22:29877035 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.402G>A (p.Gln134=) single nucleotide variant not provided [RCV002806596] Chr22:29480664 [GRCh38]
Chr22:29876653 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2369A>G (p.Lys790Arg) single nucleotide variant not provided [RCV002833783] Chr22:29490009 [GRCh38]
Chr22:29885998 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.416G>C (p.Arg139Pro) single nucleotide variant not provided [RCV002877118] Chr22:29480678 [GRCh38]
Chr22:29876667 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.915G>A (p.Lys305=) single nucleotide variant not provided [RCV002647826] Chr22:29483406 [GRCh38]
Chr22:29879395 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.61G>A (p.Gly21Ser) single nucleotide variant not provided [RCV002578900] Chr22:29480323 [GRCh38]
Chr22:29876312 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.863A>C (p.Gln288Pro) single nucleotide variant not provided [RCV003044016] Chr22:29481125 [GRCh38]
Chr22:29877114 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1887A>G (p.Pro629=) single nucleotide variant not provided [RCV003010370] Chr22:29489527 [GRCh38]
Chr22:29885516 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2319A>G (p.Glu773=) single nucleotide variant not provided [RCV002716785] Chr22:29489959 [GRCh38]
Chr22:29885948 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.284G>C (p.Arg95Pro) single nucleotide variant not provided [RCV002810062] Chr22:29480546 [GRCh38]
Chr22:29876535 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1038C>G (p.Arg346=) single nucleotide variant NEFH-related disorder [RCV004749922]|not provided [RCV002598283] Chr22:29483529 [GRCh38]
Chr22:29879518 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1147C>T (p.Arg383Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003130841]|not provided [RCV002578980] Chr22:29485786 [GRCh38]
Chr22:29881775 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.395T>A (p.Leu132Gln) single nucleotide variant not provided [RCV002578730] Chr22:29480657 [GRCh38]
Chr22:29876646 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1528G>A (p.Ala510Thr) single nucleotide variant not provided [RCV002714990] Chr22:29489168 [GRCh38]
Chr22:29885157 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2602G>A (p.Glu868Lys) single nucleotide variant not provided [RCV002601877] Chr22:29490242 [GRCh38]
Chr22:29886231 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2172C>A (p.Ser724=) single nucleotide variant not provided [RCV002877448] Chr22:29489812 [GRCh38]
Chr22:29885801 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2339A>G (p.Lys780Arg) single nucleotide variant not provided [RCV002716568] Chr22:29489979 [GRCh38]
Chr22:29885968 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2620G>A (p.Val874Met) single nucleotide variant not provided [RCV002645946] Chr22:29490260 [GRCh38]
Chr22:29886249 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.722T>C (p.Leu241Pro) single nucleotide variant not provided [RCV002856434] Chr22:29480984 [GRCh38]
Chr22:29876973 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.12C>T (p.Phe4=) single nucleotide variant not provided [RCV002576619] Chr22:29480274 [GRCh38]
Chr22:29876263 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1876G>A (p.Ala626Thr) single nucleotide variant not provided [RCV003028805] Chr22:29489516 [GRCh38]
Chr22:29885505 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1683G>A (p.Pro561=) single nucleotide variant not provided [RCV002578216] Chr22:29489323 [GRCh38]
Chr22:29885312 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1199C>T (p.Ala400Val) single nucleotide variant Inborn genetic diseases [RCV002714335]|not provided [RCV003778579] Chr22:29485838 [GRCh38]
Chr22:29881827 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2598G>T (p.Lys866Asn) single nucleotide variant not provided [RCV002834006] Chr22:29490238 [GRCh38]
Chr22:29886227 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2718A>G (p.Pro906=) single nucleotide variant not provided [RCV002811165] Chr22:29490358 [GRCh38]
Chr22:29886347 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1582G>C (p.Ala528Pro) single nucleotide variant not provided [RCV002580509] Chr22:29489222 [GRCh38]
Chr22:29885211 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2646C>G (p.Val882=) single nucleotide variant not provided [RCV002898714] Chr22:29490286 [GRCh38]
Chr22:29886275 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.413dup (p.Arg139fs) duplication not provided [RCV002899685] Chr22:29480672..29480673 [GRCh38]
Chr22:29876661..29876662 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.572_590del (p.Gln191fs) deletion not provided [RCV003063861] Chr22:29480831..29480849 [GRCh38]
Chr22:29876820..29876838 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1159G>T (p.Asp387Tyr) single nucleotide variant not provided [RCV002715346] Chr22:29485798 [GRCh38]
Chr22:29881787 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2209_2214del (p.Lys737_Ser738del) deletion not provided [RCV002627714] Chr22:29489847..29489852 [GRCh38]
Chr22:29885836..29885841 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2490C>A (p.Pro830=) single nucleotide variant not provided [RCV002599031] Chr22:29490130 [GRCh38]
Chr22:29886119 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2871C>T (p.Thr957=) single nucleotide variant not provided [RCV003047872] Chr22:29490511 [GRCh38]
Chr22:29886500 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1580C>T (p.Pro527Leu) single nucleotide variant NEFH-related disorder [RCV003418575]|not provided [RCV002675610] Chr22:29489220 [GRCh38]
Chr22:29885209 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.636G>T (p.Ala212=) single nucleotide variant not provided [RCV002646643] Chr22:29480898 [GRCh38]
Chr22:29876887 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.476G>A (p.Arg159His) single nucleotide variant not provided [RCV002630371] Chr22:29480738 [GRCh38]
Chr22:29876727 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.370A>T (p.Ser124Cys) single nucleotide variant not provided [RCV002600815] Chr22:29480632 [GRCh38]
Chr22:29876621 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1879A>C (p.Lys627Gln) single nucleotide variant not provided [RCV002959254] Chr22:29489519 [GRCh38]
Chr22:29885508 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2178G>A (p.Val726=) single nucleotide variant not provided [RCV002582610] Chr22:29489818 [GRCh38]
Chr22:29885807 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2064A>C (p.Ala688=) single nucleotide variant not provided [RCV002680761] Chr22:29489704 [GRCh38]
Chr22:29885693 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.927C>T (p.Asp309=) single nucleotide variant not provided [RCV002942591] Chr22:29483418 [GRCh38]
Chr22:29879407 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.50C>T (p.Pro17Leu) single nucleotide variant not provided [RCV002584684] Chr22:29480312 [GRCh38]
Chr22:29876301 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.105C>G (p.Gly35=) single nucleotide variant not provided [RCV002676939] Chr22:29480367 [GRCh38]
Chr22:29876356 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.355G>A (p.Glu119Lys) single nucleotide variant not provided [RCV002721636] Chr22:29480617 [GRCh38]
Chr22:29876606 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.856A>G (p.Thr286Ala) single nucleotide variant Inborn genetic diseases [RCV004066817]|not provided [RCV002654116] Chr22:29481118 [GRCh38]
Chr22:29877107 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2489C>T (p.Pro830Leu) single nucleotide variant not provided [RCV002654173] Chr22:29490129 [GRCh38]
Chr22:29886118 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2037G>A (p.Lys679=) single nucleotide variant not provided [RCV003051572] Chr22:29489677 [GRCh38]
Chr22:29885666 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2520G>A (p.Lys840=) single nucleotide variant not provided [RCV002583250] Chr22:29490160 [GRCh38]
Chr22:29886149 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2587G>A (p.Glu863Lys) single nucleotide variant not provided [RCV002680875] Chr22:29490227 [GRCh38]
Chr22:29886216 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1514C>T (p.Pro505Leu) single nucleotide variant not provided [RCV002603092] Chr22:29489154 [GRCh38]
Chr22:29885143 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.235A>T (p.Thr79Ser) single nucleotide variant not provided [RCV002653398] Chr22:29480497 [GRCh38]
Chr22:29876486 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.789G>T (p.Leu263=) single nucleotide variant NEFH-related disorder [RCV003971346]|not provided [RCV002609804] Chr22:29481051 [GRCh38]
Chr22:29877040 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1409T>C (p.Val470Ala) single nucleotide variant not provided [RCV002608597] Chr22:29489049 [GRCh38]
Chr22:29885038 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1307T>C (p.Ile436Thr) single nucleotide variant not provided [RCV002676890] Chr22:29488947 [GRCh38]
Chr22:29884936 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1967_2008del (p.Glu656_Pro669del) deletion not provided [RCV002721547] Chr22:29489579..29489620 [GRCh38]
Chr22:29885568..29885609 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.366C>T (p.Asn122=) single nucleotide variant not provided [RCV002589281] Chr22:29480628 [GRCh38]
Chr22:29876617 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.309G>A (p.Ala103=) single nucleotide variant not provided [RCV002681076] Chr22:29480571 [GRCh38]
Chr22:29876560 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.523C>T (p.Leu175Phe) single nucleotide variant not provided [RCV002608145] Chr22:29480785 [GRCh38]
Chr22:29876774 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.883+20G>A single nucleotide variant not provided [RCV002608162] Chr22:29481165 [GRCh38]
Chr22:29877154 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1023A>C (p.Ser341=) single nucleotide variant not provided [RCV002635388] Chr22:29483514 [GRCh38]
Chr22:29879503 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.3006A>G (p.Gln1002=) single nucleotide variant not provided [RCV002612162] Chr22:29490646 [GRCh38]
Chr22:29886635 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1503_1505dup (p.Lys502_Ser503insLys) duplication NEFH-related disorder [RCV004750280]|not provided [RCV002610435] Chr22:29489142..29489143 [GRCh38]
Chr22:29885131..29885132 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2229A>T (p.Glu743Asp) single nucleotide variant Inborn genetic diseases [RCV002723353] Chr22:29489869 [GRCh38]
Chr22:29885858 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1378C>A (p.Gln460Lys) single nucleotide variant not provided [RCV002612549] Chr22:29489018 [GRCh38]
Chr22:29885007 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2048C>T (p.Pro683Leu) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003133001] Chr22:29489688 [GRCh38]
Chr22:29885677 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1516G>A (p.Ala506Thr) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003133000] Chr22:29489156 [GRCh38]
Chr22:29885145 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.3019C>T (p.Pro1007Ser) single nucleotide variant Inborn genetic diseases [RCV003194696] Chr22:29490659 [GRCh38]
Chr22:29886648 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.337del (p.Asp113fs) deletion Charcot-Marie-Tooth disease axonal type 2CC [RCV003133002] Chr22:29480599 [GRCh38]
Chr22:29876588 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2878G>A (p.Glu960Lys) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003133003] Chr22:29490518 [GRCh38]
Chr22:29886507 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.768G>T (p.Gln256His) single nucleotide variant Inborn genetic diseases [RCV003204612] Chr22:29481030 [GRCh38]
Chr22:29877019 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2099A>C (p.Glu700Ala) single nucleotide variant Inborn genetic diseases [RCV003188900]|not provided [RCV003779613] Chr22:29489739 [GRCh38]
Chr22:29885728 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2468C>T (p.Pro823Leu) single nucleotide variant not provided [RCV003324913] Chr22:29490108 [GRCh38]
Chr22:29886097 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.307G>A (p.Ala103Thr) single nucleotide variant Inborn genetic diseases [RCV003348185] Chr22:29480569 [GRCh38]
Chr22:29876558 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1499A>C (p.Glu500Ala) single nucleotide variant Inborn genetic diseases [RCV003362113] Chr22:29489139 [GRCh38]
Chr22:29885128 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.458T>A (p.Met153Lys) single nucleotide variant Inborn genetic diseases [RCV003353987] Chr22:29480720 [GRCh38]
Chr22:29876709 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1437A>G (p.Lys479=) single nucleotide variant not provided [RCV003543323] Chr22:29489077 [GRCh38]
Chr22:29885066 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1716A>C (p.Ala572=) single nucleotide variant not provided [RCV003543346] Chr22:29489356 [GRCh38]
Chr22:29885345 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1954G>C (p.Ala652Pro) single nucleotide variant not provided [RCV003712610] Chr22:29489594 [GRCh38]
Chr22:29885583 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1728T>C (p.Ala576=) single nucleotide variant not provided [RCV003457099] Chr22:29489368 [GRCh38]
Chr22:29885357 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1660G>C (p.Ala554Pro) single nucleotide variant not provided [RCV003571295] Chr22:29489300 [GRCh38]
Chr22:29885289 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.806C>G (p.Ser269Trp) single nucleotide variant not provided [RCV003480383] Chr22:29481068 [GRCh38]
Chr22:29877057 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2046C>T (p.Ser682=) single nucleotide variant not provided [RCV003872647] Chr22:29489686 [GRCh38]
Chr22:29885675 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV003480382] Chr22:29480263 [GRCh38]
Chr22:29876252 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2199C>A (p.Pro733=) single nucleotide variant not provided [RCV003427215] Chr22:29489839 [GRCh38]
Chr22:29885828 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.236C>T (p.Thr79Met) single nucleotide variant not provided [RCV003427209] Chr22:29480498 [GRCh38]
Chr22:29876487 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1088C>A (p.Ala363Asp) single nucleotide variant not provided [RCV003427211] Chr22:29485727 [GRCh38]
Chr22:29881716 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.583G>A (p.Ala195Thr) single nucleotide variant NEFH-related disorder [RCV003418890]|not provided [RCV003778301] Chr22:29480845 [GRCh38]
Chr22:29876834 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2720A>C (p.Glu907Ala) single nucleotide variant not provided [RCV003427216] Chr22:29490360 [GRCh38]
Chr22:29886349 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.691C>G (p.Arg231Gly) single nucleotide variant not provided [RCV003427210] Chr22:29480953 [GRCh38]
Chr22:29876942 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.172G>C (p.Val58Leu) single nucleotide variant NEFH-related disorder [RCV003412086] Chr22:29480434 [GRCh38]
Chr22:29876423 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.428G>A (p.Gly143Asp) single nucleotide variant NEFH-related disorder [RCV003412310] Chr22:29480690 [GRCh38]
Chr22:29876679 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2190A>C (p.Ala730=) single nucleotide variant not provided [RCV003427214] Chr22:29489830 [GRCh38]
Chr22:29885819 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1362T>C (p.Thr454=) single nucleotide variant not provided [RCV003427212] Chr22:29489002 [GRCh38]
Chr22:29884991 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2345C>T (p.Pro782Leu) single nucleotide variant NEFH-related disorder [RCV003402084]|not provided [RCV003778215] Chr22:29489985 [GRCh38]
Chr22:29885974 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.598C>A (p.Arg200Ser) single nucleotide variant NEFH-related disorder [RCV003402892] Chr22:29480860 [GRCh38]
Chr22:29876849 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1722T>C (p.Ser574=) single nucleotide variant not provided [RCV003457352] Chr22:29489362 [GRCh38]
Chr22:29885351 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2103A>G (p.Glu701=) single nucleotide variant not provided [RCV003457353] Chr22:29489743 [GRCh38]
Chr22:29885732 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1791G>C (p.Glu597Asp) single nucleotide variant NEFH-related disorder [RCV003399661]|not provided [RCV003720883] Chr22:29489431 [GRCh38]
Chr22:29885420 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1815G>A (p.Lys605=) single nucleotide variant not provided [RCV003427213] Chr22:29489455 [GRCh38]
Chr22:29885444 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.27G>A (p.Ala9=) single nucleotide variant not provided [RCV003427208] Chr22:29480289 [GRCh38]
Chr22:29876278 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1150G>A (p.Glu384Lys) single nucleotide variant not provided [RCV003831791] Chr22:29485789 [GRCh38]
Chr22:29881778 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.681C>G (p.Cys227Trp) single nucleotide variant not provided [RCV003848842] Chr22:29480943 [GRCh38]
Chr22:29876932 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2632A>G (p.Lys878Glu) single nucleotide variant not provided [RCV003574099] Chr22:29490272 [GRCh38]
Chr22:29886261 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.292A>G (p.Lys98Glu) single nucleotide variant not provided [RCV003694462] Chr22:29480554 [GRCh38]
Chr22:29876543 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.249G>A (p.Gly83=) single nucleotide variant not provided [RCV003878174] Chr22:29480511 [GRCh38]
Chr22:29876500 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.883+15_883+32dup duplication not provided [RCV003574389] Chr22:29481155..29481156 [GRCh38]
Chr22:29877144..29877145 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2695G>A (p.Asp899Asn) single nucleotide variant not provided [RCV003576781] Chr22:29490335 [GRCh38]
Chr22:29886324 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1049A>C (p.Glu350Ala) single nucleotide variant not provided [RCV003572067] Chr22:29483540 [GRCh38]
Chr22:29879529 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.396G>A (p.Leu132=) single nucleotide variant not provided [RCV003661202] Chr22:29480658 [GRCh38]
Chr22:29876647 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.210C>T (p.Ala70=) single nucleotide variant not provided [RCV003691755] Chr22:29480472 [GRCh38]
Chr22:29876461 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.106G>A (p.Gly36Arg) single nucleotide variant not provided [RCV003715173] Chr22:29480368 [GRCh38]
Chr22:29876357 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.298C>G (p.Gln100Glu) single nucleotide variant not provided [RCV003713148] Chr22:29480560 [GRCh38]
Chr22:29876549 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.625G>A (p.Ala209Thr) single nucleotide variant not provided [RCV003577235] Chr22:29480887 [GRCh38]
Chr22:29876876 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.237_238delinsAA (p.Leu80Met) indel not provided [RCV003573140] Chr22:29480499..29480500 [GRCh38]
Chr22:29876488..29876489 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.537G>T (p.Ala179=) single nucleotide variant not provided [RCV003688377] Chr22:29480799 [GRCh38]
Chr22:29876788 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1730A>G (p.Glu577Gly) single nucleotide variant not provided [RCV003716450] Chr22:29489370 [GRCh38]
Chr22:29885359 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1222G>A (p.Gly408Ser) single nucleotide variant not provided [RCV003686631] Chr22:29488862 [GRCh38]
Chr22:29884851 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2501A>G (p.Lys834Arg) single nucleotide variant not provided [RCV003578478] Chr22:29490141 [GRCh38]
Chr22:29886130 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.807G>A (p.Ser269=) single nucleotide variant not provided [RCV003688574] Chr22:29481069 [GRCh38]
Chr22:29877058 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.72C>A (p.Leu24=) single nucleotide variant not provided [RCV003826966] Chr22:29480334 [GRCh38]
Chr22:29876323 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.753G>T (p.Ala251=) single nucleotide variant not provided [RCV003878619] Chr22:29481015 [GRCh38]
Chr22:29877004 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.469G>C (p.Val157Leu) single nucleotide variant not provided [RCV003824494] Chr22:29480731 [GRCh38]
Chr22:29876720 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1080C>G (p.Tyr360Ter) single nucleotide variant not provided [RCV003693906] Chr22:29483571 [GRCh38]
Chr22:29879560 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.846G>C (p.Ala282=) single nucleotide variant not provided [RCV003688198] Chr22:29481108 [GRCh38]
Chr22:29877097 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2476G>A (p.Glu826Lys) single nucleotide variant not provided [RCV003547810] Chr22:29490116 [GRCh38]
Chr22:29886105 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1044G>C (p.Glu348Asp) single nucleotide variant not provided [RCV003662804] Chr22:29483535 [GRCh38]
Chr22:29879524 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.575G>T (p.Arg192Leu) single nucleotide variant not provided [RCV003713301] Chr22:29480837 [GRCh38]
Chr22:29876826 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2213C>T (p.Ser738Phe) single nucleotide variant not provided [RCV003826865] Chr22:29489853 [GRCh38]
Chr22:29885842 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.33G>T (p.Leu11=) single nucleotide variant not provided [RCV003826903] Chr22:29480295 [GRCh38]
Chr22:29876284 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.214T>G (p.Ser72Ala) single nucleotide variant not provided [RCV003882234] Chr22:29480476 [GRCh38]
Chr22:29876465 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.41C>G (p.Pro14Arg) single nucleotide variant not provided [RCV003689398] Chr22:29480303 [GRCh38]
Chr22:29876292 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1337T>C (p.Val446Ala) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2CC [RCV003493404] Chr22:29488977 [GRCh38]
Chr22:29884966 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1702G>A (p.Glu568Lys) single nucleotide variant not provided [RCV003544055] Chr22:29489342 [GRCh38]
Chr22:29885331 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.846_862dup (p.Gln288fs) duplication not provided [RCV003572164] Chr22:29481105..29481106 [GRCh38]
Chr22:29877094..29877095 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1924A>G (p.Thr642Ala) single nucleotide variant not provided [RCV003834304] Chr22:29489564 [GRCh38]
Chr22:29885553 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1201G>A (p.Ala401Thr) single nucleotide variant Inborn genetic diseases [RCV004366856]|not provided [RCV003833427] Chr22:29485840 [GRCh38]
Chr22:29881829 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2057C>T (p.Ala686Val) single nucleotide variant not provided [RCV003852010] Chr22:29489697 [GRCh38]
Chr22:29885686 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.601G>T (p.Ala201Ser) single nucleotide variant not provided [RCV003726768] Chr22:29480863 [GRCh38]
Chr22:29876852 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.3012_3013insCAAA (p.Ser1005fs) insertion not provided [RCV003697295] Chr22:29490652..29490653 [GRCh38]
Chr22:29886641..29886642 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1180G>A (p.Ala394Thr) single nucleotide variant not provided [RCV003723316] Chr22:29485819 [GRCh38]
Chr22:29881808 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2657A>G (p.Lys886Arg) single nucleotide variant not provided [RCV003740476] Chr22:29490297 [GRCh38]
Chr22:29886286 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2459T>C (p.Val820Ala) single nucleotide variant not provided [RCV003703792] Chr22:29490099 [GRCh38]
Chr22:29886088 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2490C>T (p.Pro830=) single nucleotide variant not provided [RCV003811385] Chr22:29490130 [GRCh38]
Chr22:29886119 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1364_1365del (p.Val455fs) microsatellite not provided [RCV003703001] Chr22:29489002..29489003 [GRCh38]
Chr22:29884991..29884992 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1430_1431del (p.Glu477fs) microsatellite not provided [RCV003561529] Chr22:29489068..29489069 [GRCh38]
Chr22:29885057..29885058 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.894_905del (p.Asp298_Ser301del) deletion not provided [RCV003703326] Chr22:29483382..29483393 [GRCh38]
Chr22:29879371..29879382 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.935G>A (p.Arg312His) single nucleotide variant not provided [RCV003726857] Chr22:29483426 [GRCh38]
Chr22:29879415 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2994C>A (p.Ser998=) single nucleotide variant not provided [RCV003703655] Chr22:29490634 [GRCh38]
Chr22:29886623 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1391C>G (p.Thr464Ser) single nucleotide variant not provided [RCV003699735] Chr22:29489031 [GRCh38]
Chr22:29885020 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.608C>A (p.Ala203Glu) single nucleotide variant not provided [RCV003668782] Chr22:29480870 [GRCh38]
Chr22:29876859 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.584C>A (p.Ala195Asp) single nucleotide variant not provided [RCV003672423] Chr22:29480846 [GRCh38]
Chr22:29876835 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2622G>A (p.Val874=) single nucleotide variant not provided [RCV003855094] Chr22:29490262 [GRCh38]
Chr22:29886251 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.627C>T (p.Ala209=) single nucleotide variant not provided [RCV003702520] Chr22:29480889 [GRCh38]
Chr22:29876878 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1481C>A (p.Ala494Glu) single nucleotide variant not provided [RCV003703352] Chr22:29489121 [GRCh38]
Chr22:29885110 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.715G>A (p.Gly239Ser) single nucleotide variant not provided [RCV003666377] Chr22:29480977 [GRCh38]
Chr22:29876966 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2840A>C (p.Lys947Thr) single nucleotide variant not provided [RCV003666521] Chr22:29490480 [GRCh38]
Chr22:29886469 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.161C>T (p.Ser54Phe) single nucleotide variant not provided [RCV003851896] Chr22:29480423 [GRCh38]
Chr22:29876412 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2421C>T (p.Ala807=) single nucleotide variant not provided [RCV003559511] Chr22:29490061 [GRCh38]
Chr22:29886050 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2217A>G (p.Pro739=) single nucleotide variant not provided [RCV003668887] Chr22:29489857 [GRCh38]
Chr22:29885846 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.466_467delinsTT (p.Ala156Leu) indel not provided [RCV003665012] Chr22:29480728..29480729 [GRCh38]
Chr22:29876717..29876718 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1656T>C (p.Ser552=) single nucleotide variant not provided [RCV003814172] Chr22:29489296 [GRCh38]
Chr22:29885285 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.883+18T>G single nucleotide variant not provided [RCV003703166] Chr22:29481163 [GRCh38]
Chr22:29877152 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2290C>T (p.Pro764Ser) single nucleotide variant not provided [RCV003814456] Chr22:29489930 [GRCh38]
Chr22:29885919 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2165C>G (p.Ala722Gly) single nucleotide variant not provided [RCV003673679] Chr22:29489805 [GRCh38]
Chr22:29885794 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2050G>T (p.Val684Leu) single nucleotide variant not provided [RCV003854286] Chr22:29489690 [GRCh38]
Chr22:29885679 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.334A>C (p.Ile112Leu) single nucleotide variant not provided [RCV003673757] Chr22:29480596 [GRCh38]
Chr22:29876585 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1985C>T (p.Ser662Phe) single nucleotide variant not provided [RCV003674002] Chr22:29489625 [GRCh38]
Chr22:29885614 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1734C>T (p.Val578=) single nucleotide variant not provided [RCV003698647] Chr22:29489374 [GRCh38]
Chr22:29885363 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.717C>T (p.Gly239=) single nucleotide variant not provided [RCV003814088] Chr22:29480979 [GRCh38]
Chr22:29876968 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2170T>C (p.Ser724Pro) single nucleotide variant not provided [RCV003836777] Chr22:29489810 [GRCh38]
Chr22:29885799 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.658G>A (p.Ala220Thr) single nucleotide variant not provided [RCV003811258] Chr22:29480920 [GRCh38]
Chr22:29876909 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1125G>A (p.Lys375=) single nucleotide variant not provided [RCV003668122] Chr22:29485764 [GRCh38]
Chr22:29881753 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.813G>T (p.Leu271=) single nucleotide variant not provided [RCV003812072] Chr22:29481075 [GRCh38]
Chr22:29877064 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2439G>T (p.Glu813Asp) single nucleotide variant not provided [RCV003723933] Chr22:29490079 [GRCh38]
Chr22:29886068 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.605T>C (p.Leu202Pro) single nucleotide variant not provided [RCV003559945] Chr22:29480867 [GRCh38]
Chr22:29876856 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.989C>T (p.Thr330Ile) single nucleotide variant NEFH-related disorder [RCV004750448]|not provided [RCV003850408] Chr22:29483480 [GRCh38]
Chr22:29879469 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.675G>A (p.Glu225=) single nucleotide variant not provided [RCV003725223] Chr22:29480937 [GRCh38]
Chr22:29876926 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2376G>C (p.Glu792Asp) single nucleotide variant not provided [RCV003559510] Chr22:29490016 [GRCh38]
Chr22:29886005 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1262C>T (p.Ser421Leu) single nucleotide variant not provided [RCV003855102] Chr22:29488902 [GRCh38]
Chr22:29884891 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.271G>C (p.Val91Leu) single nucleotide variant not provided [RCV003836310] Chr22:29480533 [GRCh38]
Chr22:29876522 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1679C>T (p.Ser560Leu) single nucleotide variant not provided [RCV003666520] Chr22:29489319 [GRCh38]
Chr22:29885308 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.665C>A (p.Ala222Glu) single nucleotide variant not provided [RCV003666471] Chr22:29480927 [GRCh38]
Chr22:29876916 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1310A>G (p.Lys437Arg) single nucleotide variant not provided [RCV003698100] Chr22:29488950 [GRCh38]
Chr22:29884939 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.942G>A (p.Ala314=) single nucleotide variant not provided [RCV003734328] Chr22:29483433 [GRCh38]
Chr22:29879422 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2885C>T (p.Ala962Val) single nucleotide variant not provided [RCV003858441] Chr22:29490525 [GRCh38]
Chr22:29886514 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1595C>T (p.Ser532Phe) single nucleotide variant not provided [RCV003863916] Chr22:29489235 [GRCh38]
Chr22:29885224 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.709G>C (p.Glu237Gln) single nucleotide variant not provided [RCV003711191] Chr22:29480971 [GRCh38]
Chr22:29876960 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.117C>A (p.Ser39=) single nucleotide variant not provided [RCV003853876] Chr22:29480379 [GRCh38]
Chr22:29876368 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.659C>T (p.Ala220Val) single nucleotide variant Inborn genetic diseases [RCV004374108]|not provided [RCV003728398] Chr22:29480921 [GRCh38]
Chr22:29876910 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.155G>A (p.Arg52Gln) single nucleotide variant not provided [RCV003710285] Chr22:29480417 [GRCh38]
Chr22:29876406 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.122C>T (p.Ala41Val) single nucleotide variant not provided [RCV003818790] Chr22:29480384 [GRCh38]
Chr22:29876373 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.473_490dup (p.Ala163_Arg164insLeuArgLeuGlyAlaAla) duplication not provided [RCV003846547] Chr22:29480732..29480733 [GRCh38]
Chr22:29876721..29876722 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.345_346delinsTT (p.Arg116Trp) indel not provided [RCV003554445] Chr22:29480607..29480608 [GRCh38]
Chr22:29876596..29876597 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.172G>T (p.Val58Leu) single nucleotide variant not provided [RCV003731417] Chr22:29480434 [GRCh38]
Chr22:29876423 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.957T>G (p.Thr319=) single nucleotide variant not provided [RCV003841003] Chr22:29483448 [GRCh38]
Chr22:29879437 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1294G>C (p.Val432Leu) single nucleotide variant not provided [RCV003567166] Chr22:29488934 [GRCh38]
Chr22:29884923 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.379_386dup (p.Ala131fs) duplication not provided [RCV003853735] Chr22:29480640..29480641 [GRCh38]
Chr22:29876629..29876630 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1817C>T (p.Ser606Phe) single nucleotide variant not provided [RCV003677690] Chr22:29489457 [GRCh38]
Chr22:29885446 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1250C>G (p.Pro417Arg) single nucleotide variant not provided [RCV003864324] Chr22:29488890 [GRCh38]
Chr22:29884879 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.537G>C (p.Ala179=) single nucleotide variant not provided [RCV003564113] Chr22:29480799 [GRCh38]
Chr22:29876788 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1171G>T (p.Val391Phe) single nucleotide variant not provided [RCV003708960] Chr22:29485810 [GRCh38]
Chr22:29881799 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2384C>T (p.Ser795Phe) single nucleotide variant not provided [RCV003675426] Chr22:29490024 [GRCh38]
Chr22:29886013 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.529G>A (p.Asp177Asn) single nucleotide variant not provided [RCV003727323] Chr22:29480791 [GRCh38]
Chr22:29876780 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1737G>C (p.Lys579Asn) single nucleotide variant not provided [RCV003553662] Chr22:29489377 [GRCh38]
Chr22:29885366 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.964C>T (p.Arg322Trp) single nucleotide variant not provided [RCV003556608] Chr22:29483455 [GRCh38]
Chr22:29879444 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.924A>G (p.Thr308=) single nucleotide variant not provided [RCV003860180] Chr22:29483415 [GRCh38]
Chr22:29879404 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2073T>C (p.Pro691=) single nucleotide variant not provided [RCV003680475] Chr22:29489713 [GRCh38]
Chr22:29885702 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.666_667del (p.Leu223fs) microsatellite not provided [RCV003566083] Chr22:29480926..29480927 [GRCh38]
Chr22:29876915..29876916 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2034G>A (p.Glu678=) single nucleotide variant not provided [RCV003843143] Chr22:29489674 [GRCh38]
Chr22:29885663 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1986C>T (p.Ser662=) single nucleotide variant not provided [RCV003737177] Chr22:29489626 [GRCh38]
Chr22:29885615 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.714G>A (p.Val238=) single nucleotide variant not provided [RCV003720582] Chr22:29480976 [GRCh38]
Chr22:29876965 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.856A>C (p.Thr286Pro) single nucleotide variant not provided [RCV003675831] Chr22:29481118 [GRCh38]
Chr22:29877107 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.489G>C (p.Ala163=) single nucleotide variant not provided [RCV003867388] Chr22:29480751 [GRCh38]
Chr22:29876740 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.252G>A (p.Pro84=) single nucleotide variant not provided [RCV003822749] Chr22:29480514 [GRCh38]
Chr22:29876503 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.471G>A (p.Val157=) single nucleotide variant not provided [RCV003737112] Chr22:29480733 [GRCh38]
Chr22:29876722 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2561_2562del (p.Glu854fs) microsatellite not provided [RCV003868026] Chr22:29490199..29490200 [GRCh38]
Chr22:29886188..29886189 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.586G>C (p.Glu196Gln) single nucleotide variant not provided [RCV003562655] Chr22:29480848 [GRCh38]
Chr22:29876837 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1697C>G (p.Ser566Cys) single nucleotide variant not provided [RCV003870051] Chr22:29489337 [GRCh38]
Chr22:29885326 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2777_2780del (p.Thr926fs) deletion not provided [RCV003567676] Chr22:29490414..29490417 [GRCh38]
Chr22:29886403..29886406 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1083+11G>A single nucleotide variant not provided [RCV003846394] Chr22:29483585 [GRCh38]
Chr22:29879574 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2949A>T (p.Ser983=) single nucleotide variant not provided [RCV003567739] Chr22:29490589 [GRCh38]
Chr22:29886578 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.595G>A (p.Ala199Thr) single nucleotide variant not provided [RCV003869505] Chr22:29480857 [GRCh38]
Chr22:29876846 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2907C>T (p.Pro969=) single nucleotide variant not provided [RCV003852817] Chr22:29490547 [GRCh38]
Chr22:29886536 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.425T>C (p.Met142Thr) single nucleotide variant not provided [RCV003722665] Chr22:29480687 [GRCh38]
Chr22:29876676 [GRCh37]
Chr22:22q12.2		 benign
NM_021076.4(NEFH):c.284G>A (p.Arg95His) single nucleotide variant not provided [RCV003685012] Chr22:29480546 [GRCh38]
Chr22:29876535 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1153T>C (p.Tyr385His) single nucleotide variant not provided [RCV003853358] Chr22:29485792 [GRCh38]
Chr22:29881781 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.950A>G (p.Glu317Gly) single nucleotide variant not provided [RCV003723148] Chr22:29483441 [GRCh38]
Chr22:29879430 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.42G>A (p.Pro14=) single nucleotide variant not provided [RCV003865807] Chr22:29480304 [GRCh38]
Chr22:29876293 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1750G>T (p.Ala584Ser) single nucleotide variant not provided [RCV003712496] Chr22:29489390 [GRCh38]
Chr22:29885379 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.34G>A (p.Gly12Ser) single nucleotide variant not provided [RCV003683293] Chr22:29480296 [GRCh38]
Chr22:29876285 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.749C>T (p.Ala250Val) single nucleotide variant not provided [RCV003867872] Chr22:29481011 [GRCh38]
Chr22:29877000 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.883+17G>T single nucleotide variant not provided [RCV003848233] Chr22:29481162 [GRCh38]
Chr22:29877151 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.740_741delinsAA (p.Gly247Glu) indel not provided [RCV003676446] Chr22:29481002..29481003 [GRCh38]
Chr22:29876991..29876992 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.291G>A (p.Glu97=) single nucleotide variant not provided [RCV003820138] Chr22:29480553 [GRCh38]
Chr22:29876542 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.325G>A (p.Ala109Thr) single nucleotide variant not provided [RCV003734847] Chr22:29480587 [GRCh38]
Chr22:29876576 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.569G>C (p.Arg190Pro) single nucleotide variant not provided [RCV003551273] Chr22:29480831 [GRCh38]
Chr22:29876820 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2028C>A (p.Ser676=) single nucleotide variant not provided [RCV003862022] Chr22:29489668 [GRCh38]
Chr22:29885657 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1339G>A (p.Val447Met) single nucleotide variant not provided [RCV003707396] Chr22:29488979 [GRCh38]
Chr22:29884968 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.883+19G>C single nucleotide variant not provided [RCV003845678] Chr22:29481164 [GRCh38]
Chr22:29877153 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.287G>C (p.Ser96Thr) single nucleotide variant not provided [RCV003846001] Chr22:29480549 [GRCh38]
Chr22:29876538 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2471T>C (p.Val824Ala) single nucleotide variant not provided [RCV003563152] Chr22:29490111 [GRCh38]
Chr22:29886100 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1758C>G (p.Ser586=) single nucleotide variant not provided [RCV003711410] Chr22:29489398 [GRCh38]
Chr22:29885387 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.897A>C (p.Arg299=) single nucleotide variant not provided [RCV003865011] Chr22:29483388 [GRCh38]
Chr22:29879377 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003704736] Chr22:29480264 [GRCh38]
Chr22:29876253 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.450C>G (p.Val150=) single nucleotide variant not provided [RCV003853417] Chr22:29480712 [GRCh38]
Chr22:29876701 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2081C>T (p.Ala694Val) single nucleotide variant not provided [RCV003712087] Chr22:29489721 [GRCh38]
Chr22:29885710 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2714C>T (p.Thr905Ile) single nucleotide variant NEFH-related disorder [RCV004750384]|not provided [RCV003552913] Chr22:29490354 [GRCh38]
Chr22:29886343 [GRCh37]
Chr22:22q12.2		 benign|likely benign
NM_021076.4(NEFH):c.2432A>G (p.Glu811Gly) single nucleotide variant not provided [RCV003846281] Chr22:29490072 [GRCh38]
Chr22:29886061 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.345G>A (p.Val115=) single nucleotide variant not provided [RCV003681222] Chr22:29480607 [GRCh38]
Chr22:29876596 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2196C>T (p.Thr732=) single nucleotide variant not provided [RCV003567601] Chr22:29489836 [GRCh38]
Chr22:29885825 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1170T>C (p.Asn390=) single nucleotide variant not provided [RCV003677025] Chr22:29485809 [GRCh38]
Chr22:29881798 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.883+15G>A single nucleotide variant not provided [RCV003706328] Chr22:29481160 [GRCh38]
Chr22:29877149 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2629A>G (p.Lys877Glu) single nucleotide variant not provided [RCV003844535] Chr22:29490269 [GRCh38]
Chr22:29886258 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1570G>A (p.Ala524Thr) single nucleotide variant not provided [RCV003564941] Chr22:29489210 [GRCh38]
Chr22:29885199 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.434T>C (p.Leu145Pro) single nucleotide variant not provided [RCV003864458] Chr22:29480696 [GRCh38]
Chr22:29876685 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.369C>T (p.Arg123=) single nucleotide variant not provided [RCV003731162] Chr22:29480631 [GRCh38]
Chr22:29876620 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1300A>G (p.Thr434Ala) single nucleotide variant not provided [RCV003730069] Chr22:29488940 [GRCh38]
Chr22:29884929 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1833A>G (p.Glu611=) single nucleotide variant not provided [RCV003553813] Chr22:29489473 [GRCh38]
Chr22:29885462 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.138C>T (p.Gly46=) single nucleotide variant NEFH-related disorder [RCV003893501]|not provided [RCV003844971] Chr22:29480400 [GRCh38]
Chr22:29876389 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2589G>A (p.Glu863=) single nucleotide variant not provided [RCV003861462] Chr22:29490229 [GRCh38]
Chr22:29886218 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.78C>T (p.Tyr26=) single nucleotide variant NEFH-related disorder [RCV003909088]|not provided [RCV003704332] Chr22:29480340 [GRCh38]
Chr22:29876329 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.954_957del (p.Ile318fs) deletion not provided [RCV003711024] Chr22:29483444..29483447 [GRCh38]
Chr22:29879433..29879436 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2311A>G (p.Lys771Glu) single nucleotide variant Inborn genetic diseases [RCV004485380] Chr22:29489951 [GRCh38]
Chr22:29885940 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2716C>T (p.Pro906Ser) single nucleotide variant Inborn genetic diseases [RCV004485392] Chr22:29490356 [GRCh38]
Chr22:29886345 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.740G>A (p.Gly247Asp) single nucleotide variant Inborn genetic diseases [RCV004485447] Chr22:29481002 [GRCh38]
Chr22:29876991 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.47C>A (p.Ala16Glu) single nucleotide variant Inborn genetic diseases [RCV004485425]|not specified [RCV004526291] Chr22:29480309 [GRCh38]
Chr22:29876298 [GRCh37]
Chr22:22q12.2		 likely benign|uncertain significance
NM_021076.4(NEFH):c.2639C>T (p.Pro880Leu) single nucleotide variant Inborn genetic diseases [RCV004485389] Chr22:29490279 [GRCh38]
Chr22:29886268 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.378G>A (p.Glu126=) single nucleotide variant NEFH-related disorder [RCV003934729] Chr22:29480640 [GRCh38]
Chr22:29876629 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1083+7A>G single nucleotide variant NEFH-related disorder [RCV003959829] Chr22:29483581 [GRCh38]
Chr22:29879570 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2193G>A (p.Lys731=) single nucleotide variant NEFH-related disorder [RCV003931649] Chr22:29489833 [GRCh38]
Chr22:29885822 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2115T>C (p.Pro705=) single nucleotide variant not provided [RCV003885239] Chr22:29489755 [GRCh38]
Chr22:29885744 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2148A>C (p.Ala716=) single nucleotide variant not provided [RCV003885444] Chr22:29489788 [GRCh38]
Chr22:29885777 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.790A>G (p.Lys264Glu) single nucleotide variant NEFH-related disorder [RCV003951546] Chr22:29481052 [GRCh38]
Chr22:29877041 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.507G>C (p.Leu169=) single nucleotide variant NEFH-related disorder [RCV003976328] Chr22:29480769 [GRCh38]
Chr22:29876758 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.505C>T (p.Leu169=) single nucleotide variant NEFH-related disorder [RCV003901417] Chr22:29480767 [GRCh38]
Chr22:29876756 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2157T>A (p.Pro719=) single nucleotide variant not provided [RCV003885565] Chr22:29489797 [GRCh38]
Chr22:29885786 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2268C>G (p.Ala756=) single nucleotide variant not provided [RCV004547069] Chr22:29489908 [GRCh38]
Chr22:29885897 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1232G>A (p.Cys411Tyr) single nucleotide variant Inborn genetic diseases [RCV004483340] Chr22:29488872 [GRCh38]
Chr22:29884861 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1729G>A (p.Glu577Lys) single nucleotide variant Inborn genetic diseases [RCV004483366] Chr22:29489369 [GRCh38]
Chr22:29885358 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2171C>G (p.Ser724Cys) single nucleotide variant Inborn genetic diseases [RCV004483393] Chr22:29489811 [GRCh38]
Chr22:29885800 [GRCh37]
Chr22:22q12.2		 uncertain significance
NC_000022.10:g.(?_29881692)_(29886692_?)del deletion not provided [RCV004579301] Chr22:29881692..29886692 [GRCh37]
Chr22:22q12.2		 uncertain significance
NC_000022.10:g.(?_29083885)_(30090791_?)del deletion Neurofibromatosis, type 2 [RCV004582379] Chr22:29083885..30090791 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NC_000022.10:g.(?_29621477)_(30035211_?)del deletion Neurofibromatosis, type 2 [RCV004582435] Chr22:29621477..30035211 [GRCh37]
Chr22:22q12.2		 pathogenic
NM_021076.4(NEFH):c.2241A>T (p.Pro747=) single nucleotide variant not provided [RCV004574990] Chr22:29489881 [GRCh38]
Chr22:29885870 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2275C>T (p.Leu759Phe) single nucleotide variant Inborn genetic diseases [RCV004641469] Chr22:29489915 [GRCh38]
Chr22:29885904 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.263_274del (p.Met88_Ala92delinsThr) deletion not specified [RCV004587789] Chr22:29480525..29480536 [GRCh38]
Chr22:29876514..29876525 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.259T>C (p.Cys87Arg) single nucleotide variant not specified [RCV004587804] Chr22:29480521 [GRCh38]
Chr22:29876510 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.657G>A (p.Lys219=) single nucleotide variant not specified [RCV004691047] Chr22:29480919 [GRCh38]
Chr22:29876908 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.2290C>G (p.Pro764Ala) single nucleotide variant Inborn genetic diseases [RCV004641468] Chr22:29489930 [GRCh38]
Chr22:29885919 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2229A>G (p.Glu743=) single nucleotide variant not provided [RCV004575078] Chr22:29489869 [GRCh38]
Chr22:29885858 [GRCh37]
Chr22:22q12.2		 likely benign
NM_021076.4(NEFH):c.1355A>T (p.Lys452Ile) single nucleotide variant Inborn genetic diseases [RCV004654702] Chr22:29488995 [GRCh38]
Chr22:29884984 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.452G>A (p.Arg151His) single nucleotide variant Inborn genetic diseases [RCV004654703] Chr22:29480714 [GRCh38]
Chr22:29876703 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.526G>A (p.Glu176Lys) single nucleotide variant not specified [RCV004702703] Chr22:29480788 [GRCh38]
Chr22:29876777 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.61G>T (p.Gly21Cys) single nucleotide variant NEFH-related disorder [RCV004748202] Chr22:29480323 [GRCh38]
Chr22:29876312 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2171C>T (p.Ser724Phe) single nucleotide variant not provided [RCV004766360] Chr22:29489811 [GRCh38]
Chr22:29885800 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1616A>C (p.Lys539Thr) single nucleotide variant NEFH-related disorder [RCV004749101] Chr22:29489256 [GRCh38]
Chr22:29885245 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1786G>T (p.Ala596Ser) single nucleotide variant NEFH-related disorder [RCV004724502] Chr22:29489426 [GRCh38]
Chr22:29885415 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1511C>A (p.Pro504His) single nucleotide variant NEFH-related disorder [RCV004749393] Chr22:29489151 [GRCh38]
Chr22:29885140 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.2101G>A (p.Glu701Lys) single nucleotide variant NEFH-related disorder [RCV004730126] Chr22:29489741 [GRCh38]
Chr22:29885730 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1081C>T (p.Gln361Ter) single nucleotide variant NEFH-related disorder [RCV004726407] Chr22:29483572 [GRCh38]
Chr22:29879561 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.74A>C (p.His25Pro) single nucleotide variant NEFH-related disorder [RCV004749057] Chr22:29480336 [GRCh38]
Chr22:29876325 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1169A>G (p.Asn390Ser) single nucleotide variant not provided [RCV004764025]   uncertain significance
NM_021076.4(NEFH):c.683G>T (p.Gly228Val) single nucleotide variant not provided [RCV004772665] Chr22:29480945 [GRCh38]
Chr22:29876934 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1151A>T (p.Glu384Val) single nucleotide variant not provided [RCV004763825]   uncertain significance
NM_021076.4(NEFH):c.795C>G (p.Cys265Trp) single nucleotide variant NEFH-related disorder [RCV004750649] Chr22:29481057 [GRCh38]
Chr22:29877046 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.301_342del (p.Leu101_Lys114del) deletion not provided [RCV004769709] Chr22:29480561..29480602 [GRCh38]
Chr22:29876550..29876591 [GRCh37]
Chr22:22q12.2		 uncertain significance
NM_021076.4(NEFH):c.1859C>G (p.Ser620Cys) single nucleotide variant NEFH-related disorder [RCV004748380] Chr22:29489499 [GRCh38]
Chr22:29885488 [GRCh37]
Chr22:22q12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:452
Count of miRNA genes:330
Interacting mature miRNAs:372
Transcripts:ENST00000310624
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407112541GWAS761517_Hself reported educational attainment QTL GWAS761517 (human)5e-12self reported educational attainment222948478429484785Human
407015961GWAS664937_Hself reported educational attainment QTL GWAS664937 (human)1e-12self reported educational attainment222948478429484785Human
407358360GWAS1007336_Heducational attainment QTL GWAS1007336 (human)2e-23educational attainment222948478429484785Human

Markers in Region
WI-1055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372229,886,267 - 29,886,690UniSTSGRCh37
Build 362228,216,267 - 28,216,690RGDNCBI36
Celera2213,686,106 - 13,686,529RGD
Cytogenetic Map22q12.2UniSTS
HuRef2212,850,093 - 12,850,516UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2370 2788 2230 4926 1702 2274 4 606 1856 444 2242 7107 6366 38 3710 817 1712 1561 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA908662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC000035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF203032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE223015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE782873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG470629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM686053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S46953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000310624   ⟹   ENSP00000311997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2229,480,218 - 29,491,390 (+)Ensembl
RefSeq Acc Id: NM_021076   ⟹   NP_066554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382229,480,218 - 29,491,390 (+)NCBI
GRCh372229,876,181 - 29,887,279 (+)ENTREZGENE
GRCh372229,876,181 - 29,887,279 (+)NCBI
Build 362228,206,219 - 28,217,279 (+)NCBI Archive
HuRef2212,839,995 - 12,851,105 (+)ENTREZGENE
CHM1_12229,835,584 - 29,846,662 (+)NCBI
T2T-CHM13v2.02229,943,567 - 29,954,761 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530200   ⟹   XP_011528502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382229,480,218 - 29,491,290 (+)NCBI
Sequence:
RefSeq Acc Id: NP_066554   ⟸   NM_021076
- UniProtKB: Q9UQ14 (UniProtKB/Swiss-Prot),   Q9UJS7 (UniProtKB/Swiss-Prot),   Q96HF8 (UniProtKB/Swiss-Prot),   B4DYY4 (UniProtKB/Swiss-Prot),   P12036 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528502   ⟸   XM_011530200
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000311997   ⟸   ENST00000310624
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12036-F1-model_v2 AlphaFold P12036 1-1026 view protein structure

Promoters
RGD ID:6800174
Promoter ID:HG_KWN:42243
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000321553
Position:
Human AssemblyChrPosition (strand)Source
Build 362228,206,191 - 28,207,122 (+)MPROMDB
RGD ID:13603636
Promoter ID:EPDNEW_H28002
Type:multiple initiation site
Name:NEFH_1
Description:neurofilament heavy
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382229,480,218 - 29,480,278EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7737 AgrOrtholog
COSMIC NEFH COSMIC
Ensembl Genes ENSG00000100285 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000310624 ENTREZGENE
  ENST00000310624.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
GTEx ENSG00000100285 GTEx
HGNC ID HGNC:7737 ENTREZGENE
Human Proteome Map NEFH Human Proteome Map
InterPro DUF1388 UniProtKB/Swiss-Prot
  IF_conserved UniProtKB/Swiss-Prot
  IF_rod_dom UniProtKB/Swiss-Prot
  NF-H UniProtKB/Swiss-Prot
KEGG Report hsa:4744 UniProtKB/Swiss-Prot
NCBI Gene 4744 ENTREZGENE
OMIM 162230 OMIM
PANTHER NEUROFILAMENT HEAVY POLYPEPTIDE UniProtKB/Swiss-Prot
  PTHR23214 UniProtKB/Swiss-Prot
Pfam DUF1388 UniProtKB/Swiss-Prot
  Filament UniProtKB/Swiss-Prot
PharmGKB PA31540 PharmGKB
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
UniProt B4DYY4 ENTREZGENE
  NFH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16070_HUMAN UniProtKB/TrEMBL
  Q96HF8 ENTREZGENE
  Q9UJS7 ENTREZGENE
  Q9UQ14 ENTREZGENE
UniProt Secondary B4DYY4 UniProtKB/Swiss-Prot
  Q96HF8 UniProtKB/Swiss-Prot
  Q9UJS7 UniProtKB/Swiss-Prot
  Q9UQ14 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-29 NEFH  neurofilament heavy chain  NEFH  neurofilament heavy  Symbol and/or name change 19259463 PROVISIONAL
2016-12-13 NEFH  neurofilament heavy  NEFH  neurofilament heavy polypeptide  Symbol and/or name change 5135510 APPROVED
2016-07-12 NEFH  neurofilament heavy polypeptide  NEFH  neurofilament, heavy polypeptide  Symbol and/or name change 5135510 APPROVED