FIG4 (FIG4 phosphoinositide 5-phosphatase) - Rat Genome Database

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Gene: FIG4 (FIG4 phosphoinositide 5-phosphatase) Homo sapiens
Analyze
Symbol: FIG4
Name: FIG4 phosphoinositide 5-phosphatase
RGD ID: 1322801
HGNC Page HGNC:16873
Description: Predicted to enable phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Predicted to act upstream of or within several processes, including negative regulation of myelination; nervous system development; and phosphatidylinositol metabolic process. Located in endosome membrane and lipid droplet. Implicated in Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome; amyotrophic lateral sclerosis type 11; and bilateral parasagittal parieto-occipital polymicrogyria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALS11; BOP; BTOP; CMT4J; dJ249I4.1; FIG4 homolog, SAC domain containing lipid phosphatase; FIG4 homolog, SAC1 domain containing lipid phosphatase; FIG4 homolog, SAC1 lipid phosphatase domain containing; hSac3; KIAA0274; phosphatidylinositol 3,5-bisphosphate 5-phosphatase; polyphosphoinositide phosphatase; RP1-249I4.1; Sac domain-containing inositol phosphatase 3; SAC domain-containing protein 3; SAC3; serine-protein phosphatase FIG4; YVS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386109,691,296 - 109,825,426 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6109,690,609 - 109,878,098 (+)EnsemblGRCh38hg38GRCh38
GRCh376110,012,499 - 110,146,629 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366110,119,161 - 110,253,327 (+)NCBINCBI36Build 36hg18NCBI36
Build 346110,119,160 - 110,253,327NCBI
Celera6110,759,045 - 110,893,292 (+)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6107,578,606 - 107,713,071 (+)NCBIHuRef
CHM1_16110,275,404 - 110,409,874 (+)NCBICHM1_1
T2T-CHM13v2.06110,869,350 - 111,003,788 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
Abnormal calvaria morphology  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal fear-induced behavior  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal occipital bone morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal parietal bone morphology  (IAGP)
Abnormal pelvis bone morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of dental structure  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality on pulmonary function testing  (IAGP)
Absent fingernail  (IAGP)
Absent hallux  (IAGP)
Absent middle phalanx of 2nd finger  (IAGP)
Absent nipple  (IAGP)
Absent sternal ossification  (IAGP)
Absent thumb  (IAGP)
Adult onset  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Ankle flexion contracture  (IAGP)
Anonychia  (IAGP)
Anterior concavity of thoracic vertebrae  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aplasia of the 1st metacarpal  (IAGP)
Aplasia of the distal phalanges of the hand  (IAGP)
Aplasia of the distal phalanx of the 2nd finger  (IAGP)
Aplasia of the distal phalanx of the hallux  (IAGP)
Aplasia/hypoplasia of the 1st metatarsal  (IAGP)
Aplasia/Hypoplasia of the clavicles  (IAGP)
Aplasia/Hypoplasia of the distal phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the hallux  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Aplasia/Hypoplasia of the scapulae  (IAGP)
Aplastic clavicle  (IAGP)
Areflexia  (IAGP)
Arrhinencephaly  (IAGP)
Aspiration pneumonia  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Auditory hallucination  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal loss  (IAGP)
Babinski sign  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with focal onset  (IAGP)
Birth length less than 3rd percentile  (IAGP)
Broad alveolar ridges  (IAGP)
Broad secondary alveolar ridge  (IAGP)
Bulbar signs  (IAGP)
Cachexia  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral hypomyelination  (IAGP)
Clinodactyly  (IAGP)
Clitoral hypertrophy  (IAGP)
Cognitive impairment  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Cortical dysplasia  (IAGP)
Craniofacial disproportion  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Cutaneous syndactyly  (IAGP)
Decreased calvarial ossification  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased skull ossification  (IAGP)
Delayed fine motor development  (IAGP)
Delayed gross motor development  (IAGP)
Delayed ossification of pubic rami  (IAGP)
Delayed speech and language development  (IAGP)
Delirium  (IAGP)
Depression  (IAGP)
Distal amyotrophy  (IAGP)
Distal arthrogryposis  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dolichocephaly  (IAGP)
Down-sloping shoulders  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dyspnea  (IAGP)
Emotional lability  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Flat occiput  (IAGP)
Focal impaired awareness seizure  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Generalized muscle weakness  (IAGP)
Generalized neonatal hypotonia  (IAGP)
Gingival recession  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Heart murmur  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
High-pitched cry  (IAGP)
Hip dislocation  (IAGP)
Hoffmann sign  (IAGP)
Hydrocephalus  (IAGP)
Hydrops fetalis  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the frontal lobes  (IAGP)
Hypoplastic facial bones  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic nipples  (IAGP)
Hypoplastic scapulae  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased nuchal translucency  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intermediate young adult onset  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Jaw hyperreflexia  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Language impairment  (IAGP)
Large fontanelles  (IAGP)
Laryngospasm  (IAGP)
Low-set ears  (IAGP)
Lower limb muscle weakness  (IAGP)
Macrocephaly  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Motor delay  (IAGP)
Motor neuron atrophy  (IAGP)
Muscle spasm  (IAGP)
Narrow nasal base  (IAGP)
Neurodegeneration  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Onion bulb formation  (IAGP)
Orthopnea  (IAGP)
Pachygyria  (IAGP)
Pain  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Paralysis  (IAGP)
Parietal bossing  (IAGP)
Patent foramen ovale  (IAGP)
Peripheral hypomyelination  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Postnatal growth retardation  (IAGP)
Premature birth  (IAGP)
Premature loss of primary teeth  (IAGP)
Primary microcephaly  (IAGP)
Progressive  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Prominent antihelix  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Pseudobulbar paralysis  (IAGP)
Psychotic mentation  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pyloric stenosis  (IAGP)
Redundant neck skin  (IAGP)
Renal artery stenosis  (IAGP)
Renovascular hypertension  (IAGP)
Respiratory failure  (IAGP)
Rocker bottom foot  (IAGP)
Sclerocornea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe failure to thrive  (IAGP)
Severe global developmental delay  (IAGP)
Short 2nd finger  (IAGP)
Short chin  (IAGP)
Short clavicles  (IAGP)
Short distal phalanx of finger  (IAGP)
Short finger  (IAGP)
Short metatarsal  (IAGP)
Short middle phalanx of finger  (IAGP)
Short philtrum  (IAGP)
Short proximal phalanx of hallux  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Short toe  (IAGP)
Short upper lip  (IAGP)
Shortening of all distal phalanges of the toes  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Slender long bones with narrow diaphyses  (IAGP)
Small earlobe  (IAGP)
Small for gestational age  (IAGP)
Somatic sensory dysfunction  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse scalp hair  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Steppage gait  (IAGP)
Strabismus  (IAGP)
Sudden unexpected death in epilepsy  (IAGP)
Suicidal ideation  (IAGP)
Syndactyly  (IAGP)
Tapered finger  (IAGP)
Tapered toe  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Toe syndactyly  (IAGP)
Tongue atrophy  (IAGP)
Tongue fasciculations  (IAGP)
Tremor  (IAGP)
Upper limb muscle weakness  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Upslanted palpebral fissure  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Visual hallucination  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
Wide cranial sutures  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:9039502   PMID:11274189   PMID:12477932   PMID:14574404   PMID:15489334   PMID:16344560   PMID:17556371   PMID:17572665   PMID:18950639   PMID:19037259  
PMID:19118816   PMID:19240061   PMID:19820697   PMID:19840946   PMID:20301532   PMID:20301623   PMID:20301641   PMID:20472325   PMID:20630877   PMID:20693124   PMID:21705420   PMID:21873635  
PMID:23336365   PMID:23623387   PMID:23888880   PMID:24070605   PMID:24085347   PMID:24088667   PMID:24228289   PMID:24598713   PMID:26125944   PMID:26186194   PMID:26405034   PMID:26519381  
PMID:26885983   PMID:27433848   PMID:28051077   PMID:28514442   PMID:29518270   PMID:29688489   PMID:30740813   PMID:31313076   PMID:31586073   PMID:32235678   PMID:32296183   PMID:32385905  
PMID:32583743   PMID:33405357   PMID:33961781   PMID:34369648   PMID:34432599   PMID:34554760   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35906200   PMID:36263704   PMID:37950760  


Genomics

Comparative Map Data
FIG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386109,691,296 - 109,825,426 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6109,690,609 - 109,878,098 (+)EnsemblGRCh38hg38GRCh38
GRCh376110,012,499 - 110,146,629 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366110,119,161 - 110,253,327 (+)NCBINCBI36Build 36hg18NCBI36
Build 346110,119,160 - 110,253,327NCBI
Celera6110,759,045 - 110,893,292 (+)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6107,578,606 - 107,713,071 (+)NCBIHuRef
CHM1_16110,275,404 - 110,409,874 (+)NCBICHM1_1
T2T-CHM13v2.06110,869,350 - 111,003,788 (+)NCBIT2T-CHM13v2.0
Fig4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391041,064,168 - 41,179,237 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1041,064,168 - 41,179,256 (-)EnsemblGRCm39 Ensembl
GRCm381041,188,172 - 41,303,241 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1041,188,172 - 41,303,260 (-)EnsemblGRCm38mm10GRCm38
MGSCv371040,907,978 - 41,023,047 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361040,876,587 - 40,991,656 (-)NCBIMGSCv36mm8
Celera1042,083,412 - 42,197,996 (-)NCBICelera
Cytogenetic Map10B1NCBI
cM Map1022.08NCBI
Fig4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82046,183,225 - 46,306,686 (-)NCBIGRCr8
mRatBN7.22044,600,603 - 44,724,047 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2044,600,603 - 44,723,844 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2046,388,086 - 46,511,436 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02046,047,227 - 46,170,581 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02046,772,600 - 46,893,206 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02045,922,806 - 46,044,754 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2045,922,806 - 46,044,738 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02047,625,556 - 47,747,494 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42045,123,352 - 45,248,795 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12045,146,775 - 45,222,780 (-)NCBI
Celera2045,399,685 - 45,522,856 (-)NCBICelera
Cytogenetic Map20q12NCBI
Fig4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554113,135,752 - 3,217,891 (-)NCBIChiLan1.0ChiLan1.0
FIG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25129,701,209 - 129,836,807 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16127,589,237 - 127,723,686 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06107,495,637 - 107,631,201 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16111,539,937 - 111,673,894 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6111,539,937 - 111,673,894 (+)Ensemblpanpan1.1panPan2
FIG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11266,508,801 - 66,632,830 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1266,509,431 - 66,632,822 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1266,329,148 - 66,452,527 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01267,393,792 - 67,518,028 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1267,394,350 - 67,518,026 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11266,742,283 - 66,865,882 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01266,591,834 - 66,714,914 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01266,863,026 - 66,986,428 (+)NCBIUU_Cfam_GSD_1.0
Fig4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946101,462,042 - 101,567,353 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365645,736,873 - 5,842,722 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365645,736,908 - 5,842,210 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FIG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl175,694,151 - 75,847,528 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1175,694,151 - 75,847,021 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2185,452,466 - 85,539,950 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2184,995,954 - 85,027,999 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FIG4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11364,054,000 - 64,186,800 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1364,054,002 - 64,186,714 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604036,346,233 - 36,489,346 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fig4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462485029,362 - 156,346 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FIG4
863 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014845.6(FIG4):c.499T>G (p.Tyr167Asp) single nucleotide variant not specified [RCV000518823] Chr6:109735151 [GRCh38]
Chr6:110056354 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2289G>A (p.Gly763=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000549133]|Inborn genetic diseases [RCV002448796] Chr6:109791484 [GRCh38]
Chr6:110112687 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000544933]|Inborn genetic diseases [RCV002358614]|not provided [RCV003480693] Chr6:109735241 [GRCh38]
Chr6:110056444 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.535C>G (p.Leu179Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000530188] Chr6:109735187 [GRCh38]
Chr6:110056390 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1755C>T (p.Ala585=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000530338] Chr6:109776926 [GRCh38]
Chr6:110098129 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095515]|Amyotrophic lateral sclerosis type 11 [RCV000416487]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV001330564]|Charcot-Marie-Tooth disease type 4 [RCV000476702]|Charcot-Marie-Tooth disease type 4J [RCV000001791]|Charcot-Marie-Tooth disease type 4J [RCV001535566]|FIG4-related disorder [RCV003952336]|Inborn genetic diseases [RCV002362551]|Yunis-Varon syndrome [RCV001270162]|not provided [RCV000143812] Chr6:109715133 [GRCh38]
Chr6:110036336 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_014845.6(FIG4):c.294del (p.Phe98fs) deletion Charcot-Marie-Tooth disease [RCV000789113]|Charcot-Marie-Tooth disease type 4J [RCV000001792]|Yunis-Varon syndrome [RCV001195964] Chr6:109727110 [GRCh38]
Chr6:110048313 [GRCh37]
Chr6:6q21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095516]|Amyotrophic lateral sclerosis type 11 [RCV000001796]|Charcot-Marie-Tooth disease type 4 [RCV001046714]|Charcot-Marie-Tooth disease type 4J [RCV000001793]|FIG4-related disorder [RCV003944790]|not provided [RCV000235305] Chr6:109735199 [GRCh38]
Chr6:110056402 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) deletion Charcot-Marie-Tooth disease [RCV000789115]|Charcot-Marie-Tooth disease type 4 [RCV001851563]|Charcot-Marie-Tooth disease type 4J [RCV000001794] Chr6:109743678..109743685 [GRCh38]
Chr6:110064881..110064888 [GRCh37]
Chr6:6q21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
FIG4, 1-BP DEL, 759G deletion Charcot-Marie-Tooth disease, type 4J [RCV000001795] Chr6:6q21 pathogenic
FIG4, IVS11DS, G-T, +5 single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000001797] Chr6:6q21 pathogenic
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr) single nucleotide variant Amyotrophic lateral sclerosis [RCV003447064]|Amyotrophic lateral sclerosis type 11 [RCV000001798] Chr6:109715168 [GRCh38]
Chr6:110036371 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.762C>T (p.Phe254=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001468000]|Inborn genetic diseases [RCV002395480] Chr6:109738440 [GRCh38]
Chr6:110059643 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2547-3T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000524718] Chr6:109825085 [GRCh38]
Chr6:110146288 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.627A>G (p.Leu209=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000555063]|Inborn genetic diseases [RCV002367711]|not provided [RCV001591165]|not specified [RCV000516750] Chr6:109735279 [GRCh38]
Chr6:110056482 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014845.6(FIG4):c.1137+5G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001882554]|not provided [RCV001508191] Chr6:109743777 [GRCh38]
Chr6:110064980 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2382G>A (p.Val794=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000547740]|Inborn genetic diseases [RCV002456256] Chr6:109792587 [GRCh38]
Chr6:110113790 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2376+9G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001487460]|not specified [RCV000516521] Chr6:109791580 [GRCh38]
Chr6:110112783 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000553432]|FIG4-related disorder [RCV003980041]|Inborn genetic diseases [RCV002377179]|not provided [RCV000756166] Chr6:109715112 [GRCh38]
Chr6:110036315 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2459+7T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173275]|Charcot-Marie-Tooth disease type 4 [RCV001078982]|FIG4-related disorder [RCV003900070]|not provided [RCV000654260]|not specified [RCV000517448] Chr6:109792671 [GRCh38]
Chr6:110113874 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs) deletion Yunis-Varon syndrome [RCV000043689] Chr6:109760372..109760373 [GRCh38]
Chr6:110081575..110081576 [GRCh37]
Chr6:6q21		 pathogenic|conflicting interpretations of pathogenicity
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp) single nucleotide variant Amyotrophic lateral sclerosis [RCV003447105]|Yunis-Varon syndrome [RCV000043690] Chr6:109727130 [GRCh38]
Chr6:110048333 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) deletion Bilateral parasagittal parieto-occipital polymicrogyria [RCV001255783]|Charcot-Marie-Tooth disease type 4 [RCV001248346]|Charcot-Marie-Tooth disease type 4J [RCV003447106]|Inborn genetic diseases [RCV002426591]|Yunis-Varon syndrome [RCV000043691]|not provided [RCV000236453] Chr6:109741498..109741505 [GRCh38]
Chr6:110062701..110062708 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro) single nucleotide variant Amyotrophic lateral sclerosis [RCV003447107]|Yunis-Varon syndrome [RCV000043692] Chr6:109735176 [GRCh38]
Chr6:110056379 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
NM_014845.6(FIG4):c.67-7T>C single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000261180]|Amyotrophic lateral sclerosis type 11 [RCV000576797]|Charcot-Marie-Tooth disease [RCV001173527]|Charcot-Marie-Tooth disease type 4 [RCV000469132]|Charcot-Marie-Tooth disease type 4J [RCV001095128]|not specified [RCV000125107] Chr6:109715071 [GRCh38]
Chr6:110036274 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000391678]|Amyotrophic lateral sclerosis type 11 [RCV000576316]|Charcot-Marie-Tooth disease [RCV001173263]|Charcot-Marie-Tooth disease type 4 [RCV000339989]|Charcot-Marie-Tooth disease type 4J [RCV001095129]|not provided [RCV001580074]|not specified [RCV000125108] Chr6:109743725 [GRCh38]
Chr6:110064928 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.27C>T (p.Ile9=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000359375]|Amyotrophic lateral sclerosis type 11 [RCV002505086]|Charcot-Marie-Tooth disease [RCV001174141]|Charcot-Marie-Tooth disease type 4 [RCV000205447]|Charcot-Marie-Tooth disease type 4J [RCV001095126]|FIG4-related disorder [RCV003935188]|Inborn genetic diseases [RCV002433619]|not provided [RCV000711655]|not specified [RCV000173441] Chr6:109691462 [GRCh38]
Chr6:110012665 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000987760]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV001701762]|Charcot-Marie-Tooth disease [RCV001173531]|Charcot-Marie-Tooth disease type 4 [RCV000376473]|Charcot-Marie-Tooth disease type 4J [RCV001095021]|Yunis-Varon syndrome [RCV001701761]|not provided [RCV000755270]|not specified [RCV000125110] Chr6:109786314 [GRCh38]
Chr6:110107517 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000697297]|Charcot-Marie-Tooth disease type 4J [RCV000144071]|Yunis-Varon syndrome [RCV003447113] Chr6:109691485 [GRCh38]
Chr6:110012688 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance|not provided
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV003447114]|Charcot-Marie-Tooth disease type 4 [RCV001857490]|Charcot-Marie-Tooth disease type 4J [RCV000144072]|Tremor [RCV001263366] Chr6:109743137 [GRCh38]
Chr6:110064340 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.290-2A>T single nucleotide variant Charcot-Marie-Tooth disease [RCV000789118]|Charcot-Marie-Tooth disease type 4J [RCV000144073] Chr6:109727107 [GRCh38]
Chr6:110048310 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.2348A>T (p.Asp783Val) single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV000144074]|Yunis-Varon syndrome [RCV003447115] Chr6:109791543 [GRCh38]
Chr6:110112746 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q21(chr6:109612069-109749371)x1 copy number loss See cases [RCV000137397] Chr6:109612069..109749371 [GRCh38]
Chr6:109933272..110070574 [GRCh37]
Chr6:110039965..110177267 [NCBI36]
Chr6:6q21		 likely pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1		 pathogenic
GRCh38/hg38 6q21(chr6:109780913-110202309)x1 copy number loss See cases [RCV000140325] Chr6:109780913..110202309 [GRCh38]
Chr6:110102116..110523512 [GRCh37]
Chr6:110208809..110630205 [NCBI36]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q21(chr6:107445281-110547907)x1 copy number loss See cases [RCV000141382] Chr6:107445281..110547907 [GRCh38]
Chr6:107766485..110869110 [GRCh37]
Chr6:107873178..110975803 [NCBI36]
Chr6:6q21		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001154182]|Charcot-Marie-Tooth disease type 4 [RCV000197681]|Charcot-Marie-Tooth disease type 4J [RCV001154181]|not provided [RCV000439703] Chr6:109825108 [GRCh38]
Chr6:110146311 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001235453]|Charcot-Marie-Tooth disease type 4J [RCV000201166]|FIG4-related disorder [RCV003897432]|Inborn genetic diseases [RCV000623247]|not provided [RCV001090680] Chr6:109760253 [GRCh38]
Chr6:110081456 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.66+10C>T single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000301217]|Charcot-Marie-Tooth disease [RCV001173267]|Charcot-Marie-Tooth disease type 4 [RCV000204225]|Charcot-Marie-Tooth disease type 4J [RCV001095127]|not provided [RCV000711656]|not specified [RCV000289336] Chr6:109691511 [GRCh38]
Chr6:110012714 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.1040-4T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000206672]|not provided [RCV001711613] Chr6:109743671 [GRCh38]
Chr6:110064874 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1544T>C (p.Ile515Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000204035] Chr6:109765122 [GRCh38]
Chr6:110086325 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.14C>T (p.Ala5Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000546438]|Inborn genetic diseases [RCV002395479]|not provided [RCV002473059] Chr6:109691449 [GRCh38]
Chr6:110012652 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789755]|Charcot-Marie-Tooth disease type 4 [RCV001216587]|Charcot-Marie-Tooth disease type 4J [RCV000825523]|Yunis-Varon syndrome [RCV001197829]|not provided [RCV000518350] Chr6:109796772 [GRCh38]
Chr6:110117975 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000352246]|Charcot-Marie-Tooth disease type 4 [RCV000278522]|Charcot-Marie-Tooth disease type 4J [RCV001095048]|not provided [RCV000488398] Chr6:109791395 [GRCh38]
Chr6:110112598 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) microsatellite Cerebral hypomyelination [RCV001254717]|Charcot-Marie-Tooth disease type 4 [RCV002519748]|Inborn genetic diseases [RCV002516196]|not provided [RCV000216486] Chr6:109792638..109792640 [GRCh38]
Chr6:110113841..110113843 [GRCh37]
Chr6:6q21		 likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.2115C>T (p.Thr705=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000227587] Chr6:109789612 [GRCh38]
Chr6:110110815 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.328A>G (p.Ile110Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000229233]|Inborn genetic diseases [RCV002321883]|not specified [RCV000516609] Chr6:109727147 [GRCh38]
Chr6:110048350 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr) single nucleotide variant FIG4-related disorder [RCV003401194]|not provided [RCV000235319]|not specified [RCV001002647] Chr6:109738397 [GRCh38]
Chr6:110059600 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1051G>C (p.Asp351His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001854852]|not provided [RCV000235420] Chr6:109743686 [GRCh38]
Chr6:110064889 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1388+5G>T single nucleotide variant Amyotrophic lateral sclerosis [RCV003447130]|Amyotrophic lateral sclerosis type 11 [RCV001839451]|Charcot-Marie-Tooth disease type 4 [RCV001323814]|not provided [RCV000235449] Chr6:109762212 [GRCh38]
Chr6:110083415 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.506A>C (p.Tyr169Ser) single nucleotide variant not provided [RCV000235541] Chr6:109735158 [GRCh38]
Chr6:110056361 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.263G>A (p.Arg88Gln) single nucleotide variant not provided [RCV000235549] Chr6:109716542 [GRCh38]
Chr6:110037745 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001322416]|not provided [RCV000235888] Chr6:109786388 [GRCh38]
Chr6:110107591 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2459+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001243544]|Charcot-Marie-Tooth disease type 4J [RCV001658078]|FIG4-related disorder [RCV003955389]|Inborn genetic diseases [RCV000622554]|not provided [RCV000236022] Chr6:109792665 [GRCh38]
Chr6:110113868 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000796868]|FIG4-related disorder [RCV003401199]|Inborn genetic diseases [RCV002418046]|not provided [RCV000236139]|not specified [RCV003987477] Chr6:109786433 [GRCh38]
Chr6:110107636 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter) single nucleotide variant Amyotrophic lateral sclerosis [RCV003447128]|Charcot-Marie-Tooth disease type 4 [RCV001857797]|not provided [RCV000236745] Chr6:109760319 [GRCh38]
Chr6:110081522 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001203773]|Inborn genetic diseases [RCV002450727]|not provided [RCV000236910] Chr6:109792610 [GRCh38]
Chr6:110113813 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.447-16G>T single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV002503943]|Charcot-Marie-Tooth disease [RCV001173535]|Charcot-Marie-Tooth disease type 4 [RCV001518241]|not provided [RCV001579913]|not specified [RCV000250853] Chr6:109732621 [GRCh38]
Chr6:110053824 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.647-18C>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173528]|Charcot-Marie-Tooth disease type 4 [RCV001513754]|not provided [RCV001689872]|not specified [RCV000253420] Chr6:109738307 [GRCh38]
Chr6:110059510 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.-124A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000351743]|Charcot-Marie-Tooth disease type 4J [RCV000278594] Chr6:109691312 [GRCh38]
Chr6:110012515 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2460-8A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV000857171]|Charcot-Marie-Tooth disease type 4 [RCV000526033]|Charcot-Marie-Tooth disease type 4J [RCV003147508]|not provided [RCV000711654] Chr6:109796757 [GRCh38]
Chr6:110117960 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2097-10C>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001154907]|Charcot-Marie-Tooth disease [RCV001173268]|Charcot-Marie-Tooth disease type 4 [RCV001079241]|Charcot-Marie-Tooth disease type 4J [RCV001154908]|not provided [RCV000711652]|not specified [RCV000253875] Chr6:109789584 [GRCh38]
Chr6:110110787 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.*14C>T single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000398395]|Charcot-Marie-Tooth disease [RCV001173523]|Charcot-Marie-Tooth disease type 4J [RCV000351343]|not provided [RCV001668533]|not specified [RCV000251613] Chr6:109825279 [GRCh38]
Chr6:110146482 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.1271+32G>A single nucleotide variant not provided [RCV001689871]|not specified [RCV000249425] Chr6:109760415 [GRCh38]
Chr6:110081618 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1584-8T>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000275273]|Charcot-Marie-Tooth disease [RCV001173270]|Charcot-Marie-Tooth disease type 4 [RCV000470402]|Charcot-Marie-Tooth disease type 4J [RCV001094996]|not provided [RCV000711651]|not specified [RCV000254421] Chr6:109766721 [GRCh38]
Chr6:110087924 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.1948+3A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000321790]|Amyotrophic lateral sclerosis type 11 [RCV000576512]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV001701901]|Charcot-Marie-Tooth disease [RCV001173529]|Charcot-Marie-Tooth disease type 4 [RCV000287031]|Charcot-Marie-Tooth disease type 4J [RCV001095020]|Yunis-Varon syndrome [RCV001701969]|not provided [RCV001706348]|not specified [RCV000244780] Chr6:109785031 [GRCh38]
Chr6:110106234 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000303832]|Charcot-Marie-Tooth disease [RCV001173522]|Charcot-Marie-Tooth disease type 4 [RCV000463578]|Charcot-Marie-Tooth disease type 4J [RCV001095043]|not provided [RCV001705371]|not specified [RCV000250363] Chr6:109741476 [GRCh38]
Chr6:110062679 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_014845.6(FIG4):c.2547-5T>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000324185]|Charcot-Marie-Tooth disease [RCV001173264]|Charcot-Marie-Tooth disease type 4 [RCV000475395]|Charcot-Marie-Tooth disease type 4J [RCV001095001]|Inborn genetic diseases [RCV002429318]|not provided [RCV000858660] Chr6:109825083 [GRCh38]
Chr6:110146286 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000276656]|Charcot-Marie-Tooth disease type 4 [RCV000552045]|Charcot-Marie-Tooth disease type 4J [RCV001094995]|Inborn genetic diseases [RCV002411248]|not provided [RCV000857753]|not specified [RCV000613726] Chr6:109716452 [GRCh38]
Chr6:110037655 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002060238]|Inborn genetic diseases [RCV002431477]|not provided [RCV003886406]|not specified [RCV000518293] Chr6:109791433 [GRCh38]
Chr6:110112636 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000321034]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV001701902]|Charcot-Marie-Tooth disease [RCV001173530]|Charcot-Marie-Tooth disease type 4 [RCV000375677]|Charcot-Marie-Tooth disease type 4J [RCV001095029]|Yunis-Varon syndrome [RCV001702397]|not provided [RCV001706349]|not specified [RCV000245906] Chr6:109825100 [GRCh38]
Chr6:110146303 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.-138T>C single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000266708]|Charcot-Marie-Tooth disease type 4J [RCV000321706] Chr6:109691298 [GRCh38]
Chr6:110012501 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000355040]|Amyotrophic lateral sclerosis type 11 [RCV002502371]|Charcot-Marie-Tooth disease [RCV001174140]|Charcot-Marie-Tooth disease type 4 [RCV000531716]|Charcot-Marie-Tooth disease type 4J [RCV001095130]|Inborn genetic diseases [RCV002379244]|not specified [RCV000441562] Chr6:109760354 [GRCh38]
Chr6:110081557 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.-120C>T single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000391336]|Charcot-Marie-Tooth disease type 4J [RCV000348693]|not provided [RCV001643074] Chr6:109691316 [GRCh38]
Chr6:110012519 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000401287]|Charcot-Marie-Tooth disease type 4 [RCV000336983]|Charcot-Marie-Tooth disease type 4J [RCV001095047]|Inborn genetic diseases [RCV004022012]|Yunis-Varon syndrome [RCV001196218]|not provided [RCV000481727] Chr6:109786449 [GRCh38]
Chr6:110107652 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000271850]|Charcot-Marie-Tooth disease type 4 [RCV001861267]|Charcot-Marie-Tooth disease type 4J [RCV000366415] Chr6:109776964 [GRCh38]
Chr6:110098167 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000343538]|Charcot-Marie-Tooth disease type 4 [RCV000288549]|Charcot-Marie-Tooth disease type 4J [RCV001095019]|not provided [RCV001545776] Chr6:109727169 [GRCh38]
Chr6:110048372 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000381459]|Charcot-Marie-Tooth disease [RCV001173281]|Charcot-Marie-Tooth disease type 4 [RCV000545092]|Charcot-Marie-Tooth disease type 4J [RCV001094997]|Inborn genetic diseases [RCV004619276]|not provided [RCV001706587]|not specified [RCV000604481] Chr6:109777034 [GRCh38]
Chr6:110098237 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.-84A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000391340]|Charcot-Marie-Tooth disease type 4J [RCV000304684] Chr6:109691352 [GRCh38]
Chr6:110012555 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.243A>G (p.Lys81=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000291963]|Charcot-Marie-Tooth disease type 4 [RCV001449133]|Charcot-Marie-Tooth disease type 4J [RCV000346970] Chr6:109716522 [GRCh38]
Chr6:110037725 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.*29G>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000348078]|Charcot-Marie-Tooth disease type 4J [RCV000293027]|not provided [RCV001662329] Chr6:109825294 [GRCh38]
Chr6:110146497 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.1272-10C>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000260196]|Charcot-Marie-Tooth disease [RCV001173514]|Charcot-Marie-Tooth disease type 4 [RCV000654276]|Charcot-Marie-Tooth disease type 4J [RCV001095131] Chr6:109762081 [GRCh38]
Chr6:110083284 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000987758]|Charcot-Marie-Tooth disease type 4 [RCV001861266]|Charcot-Marie-Tooth disease type 4J [RCV001729560] Chr6:109716541 [GRCh38]
Chr6:110037744 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.*120C>T single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000308451]|Charcot-Marie-Tooth disease type 4J [RCV000400280]|not provided [RCV001712160] Chr6:109825385 [GRCh38]
Chr6:110146588 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.-112G>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000345053]|Charcot-Marie-Tooth disease type 4J [RCV000308988] Chr6:109691324 [GRCh38]
Chr6:110012527 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2547-11A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000309055]|Charcot-Marie-Tooth disease type 4 [RCV002061302]|Charcot-Marie-Tooth disease type 4J [RCV000363623] Chr6:109825077 [GRCh38]
Chr6:110146280 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.5(FIG4):c.-182G>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000325635]|Charcot-Marie-Tooth disease type 4J [RCV000361338]|not provided [RCV000833384] Chr6:109691254 [GRCh38]
Chr6:110012457 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000406778]|Charcot-Marie-Tooth disease type 4 [RCV002524462]|Charcot-Marie-Tooth disease type 4J [RCV000312621]|Inborn genetic diseases [RCV002429317] Chr6:109791418 [GRCh38]
Chr6:110112621 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.-121G>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000293806]|Charcot-Marie-Tooth disease type 4J [RCV000387667]|not provided [RCV001672669] Chr6:109691315 [GRCh38]
Chr6:110012518 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.-134C>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000263216]|Charcot-Marie-Tooth disease type 4J [RCV000376415] Chr6:109691302 [GRCh38]
Chr6:110012505 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.*7C>T single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000296389]|Charcot-Marie-Tooth disease [RCV001174142]|Charcot-Marie-Tooth disease type 4J [RCV000372240]|not provided [RCV001613177] Chr6:109825272 [GRCh38]
Chr6:110146475 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000280997]|Charcot-Marie-Tooth disease type 4 [RCV000317635]|Charcot-Marie-Tooth disease type 4J [RCV001095030]|FIG4-related disorder [RCV003902376] Chr6:109825109 [GRCh38]
Chr6:110146312 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.-132A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000373145]|Charcot-Marie-Tooth disease type 4J [RCV000318373]|not provided [RCV004695903] Chr6:109691304 [GRCh38]
Chr6:110012507 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.309A>C (p.Glu103Asp) single nucleotide variant not provided [RCV000275974] Chr6:109727128 [GRCh38]
Chr6:110048331 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2377-11_2377-10del deletion Charcot-Marie-Tooth disease type 4 [RCV002059148]|FIG4-related disorder [RCV003930093]|not specified [RCV000279089] Chr6:109792561..109792562 [GRCh38]
Chr6:110113774..110113775 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654166]|FIG4-related disorder [RCV003391049]|Inborn genetic diseases [RCV002418119]|not provided [RCV000395800] Chr6:109789610 [GRCh38]
Chr6:110110813 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2547-4A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000265862]|Charcot-Marie-Tooth disease type 4 [RCV001404072]|Charcot-Marie-Tooth disease type 4J [RCV000360172] Chr6:109825084 [GRCh38]
Chr6:110146287 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1948+5G>T single nucleotide variant not provided [RCV000487985] Chr6:109785033 [GRCh38]
Chr6:110106236 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001856907]|Inborn genetic diseases [RCV002446955]|not provided [RCV000490117] Chr6:109743726 [GRCh38]
Chr6:110064929 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) duplication Charcot-Marie-Tooth disease type 4 [RCV000798693]|Charcot-Marie-Tooth disease type 4J [RCV003447133]|FIG4-related disorder [RCV004549799]|not provided [RCV000991993] Chr6:109766807..109766808 [GRCh38]
Chr6:110088010..110088011 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.*150_*151del deletion Amyotrophic Lateral Sclerosis, Dominant [RCV000407619]|Charcot-Marie-Tooth disease type 4 [RCV000363162] Chr6:109825415..109825416 [GRCh38]
Chr6:110146618..110146619 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000331774]|Charcot-Marie-Tooth disease type 4J [RCV000386163] Chr6:109716514 [GRCh38]
Chr6:110037717 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000406774]|Charcot-Marie-Tooth disease type 4J [RCV000367275]|not provided [RCV000991995] Chr6:109796765 [GRCh38]
Chr6:110117968 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000527371]|not provided [RCV001288178] Chr6:109791534 [GRCh38]
Chr6:110112737 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2523G>A (p.Arg841=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000555466]|Inborn genetic diseases [RCV002431712] Chr6:109796828 [GRCh38]
Chr6:110118031 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1583+3A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003767403]|not provided [RCV000598045] Chr6:109765164 [GRCh38]
Chr6:110086367 [GRCh37]
Chr6:6q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001061319]|not specified [RCV000414249] Chr6:109825180 [GRCh38]
Chr6:110146383 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.863G>T (p.Gly288Val) single nucleotide variant not provided [RCV000415813] Chr6:109741531 [GRCh38]
Chr6:110062734 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173285]|Charcot-Marie-Tooth disease type 4 [RCV001088800]|not provided [RCV000534342] Chr6:109789651 [GRCh38]
Chr6:110110854 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000006.12:g.(?_109691416)_(109691521_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV000537235] Chr6:109691416..109691521 [GRCh38]
Chr6:110012619..110012724 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001382832]|not provided [RCV000412921] Chr6:109791407 [GRCh38]
Chr6:110112610 [GRCh37]
Chr6:6q21		 pathogenic
GRCh37/hg19 6q21(chr6:109564793-112223595)x1 copy number loss See cases [RCV000447293] Chr6:109564793..112223595 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1983G>A (p.Val661=) single nucleotide variant not specified [RCV000417709] Chr6:109786336 [GRCh38]
Chr6:110107539 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2460-17T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002062717]|not specified [RCV000434866] Chr6:109796748 [GRCh38]
Chr6:110117951 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.446+9G>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001153953]|Charcot-Marie-Tooth disease [RCV001173266]|Charcot-Marie-Tooth disease type 4 [RCV001086795]|Charcot-Marie-Tooth disease type 4J [RCV001153952]|not provided [RCV000710135]|not specified [RCV000418496] Chr6:109727274 [GRCh38]
Chr6:110048477 [GRCh37]
Chr6:6q21		 benign|likely benign|uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
NM_014845.6(FIG4):c.33G>C (p.Ser11=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001158141]|Charcot-Marie-Tooth disease [RCV001173276]|Charcot-Marie-Tooth disease type 4 [RCV001418759]|Charcot-Marie-Tooth disease type 4J [RCV001158140]|FIG4-related disorder [RCV003970216]|Inborn genetic diseases [RCV002451035]|not specified [RCV000433196] Chr6:109691468 [GRCh38]
Chr6:110012671 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001038059]|Inborn genetic diseases [RCV002379389]|not provided [RCV000443931] Chr6:109738408 [GRCh38]
Chr6:110059611 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1770C>T (p.Ser590=) single nucleotide variant Inborn genetic diseases [RCV002402219]|not specified [RCV000427121] Chr6:109776941 [GRCh38]
Chr6:110098144 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000416483]|Charcot-Marie-Tooth disease type 4 [RCV001857851] Chr6:109743152 [GRCh38]
Chr6:110064355 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000416484]|Charcot-Marie-Tooth disease type 4 [RCV001370290]|not provided [RCV001764227] Chr6:109825099 [GRCh38]
Chr6:110146302 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000416491]|Charcot-Marie-Tooth disease [RCV001172960]|Charcot-Marie-Tooth disease type 4 [RCV000688613]|Charcot-Marie-Tooth disease type 4J [RCV001154064]|Inborn genetic diseases [RCV003165682]|not provided [RCV001508193]|not specified [RCV001095518] Chr6:109785020 [GRCh38]
Chr6:110106223 [GRCh37]
Chr6:6q21		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_014845.6(FIG4):c.759del (p.Phe254fs) deletion Amyotrophic lateral sclerosis type 11 [RCV000416492]|Charcot-Marie-Tooth disease [RCV000789114]|Charcot-Marie-Tooth disease type 4 [RCV000533386]|Charcot-Marie-Tooth disease type 4J [RCV000001795]|not provided [RCV000517693] Chr6:109738435 [GRCh38]
Chr6:110059638 [GRCh37]
Chr6:6q21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.1619C>T (p.Thr540Ile) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000416488] Chr6:109766764 [GRCh38]
Chr6:110087967 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000463654]|FIG4-related disorder [RCV003899913]|Inborn genetic diseases [RCV002418368]|Yunis-Varon syndrome [RCV001198716]|not specified [RCV000516472] Chr6:109786448 [GRCh38]
Chr6:110107651 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000471473] Chr6:109776923 [GRCh38]
Chr6:110098126 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2241G>C (p.Pro747=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000456696]|Inborn genetic diseases [RCV002429587] Chr6:109791436 [GRCh38]
Chr6:110112639 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172966]|Charcot-Marie-Tooth disease type 4 [RCV000456786]|Inborn genetic diseases [RCV002411446] Chr6:109777050 [GRCh38]
Chr6:110098253 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.815T>C (p.Ile272Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000467970] Chr6:109741483 [GRCh38]
Chr6:110062686 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2546+5G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000456865] Chr6:109796856 [GRCh38]
Chr6:110118059 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.974G>C (p.Arg325Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000471929] Chr6:109743207 [GRCh38]
Chr6:110064410 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1751-3del deletion not specified [RCV000485992] Chr6:109776915 [GRCh38]
Chr6:110098118 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000763552]|Charcot-Marie-Tooth disease type 4 [RCV001232367]|Charcot-Marie-Tooth disease type 4J [RCV003447141]|FIG4-related disorder [RCV003419795]|Inborn genetic diseases [RCV002525832]|not provided [RCV000478168] Chr6:109738415 [GRCh38]
Chr6:110059618 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) duplication Charcot-Marie-Tooth disease [RCV000789120]|Charcot-Marie-Tooth disease type 4 [RCV000801106]|Charcot-Marie-Tooth disease type 4J [RCV003447140]|Inborn genetic diseases [RCV002383916]|not provided [RCV000486299] Chr6:109762188..109762189 [GRCh38]
Chr6:110083391..110083392 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.1703A>G (p.Lys568Arg) single nucleotide variant Inborn genetic diseases [RCV004023223]|not provided [RCV000486963] Chr6:109766848 [GRCh38]
Chr6:110088051 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1064A>G (p.His355Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000465958] Chr6:109743699 [GRCh38]
Chr6:110064902 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.366T>C (p.His122=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000477154]|Inborn genetic diseases [RCV002455867] Chr6:109727185 [GRCh38]
Chr6:110048388 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV000662127]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV000662129]|Charcot-Marie-Tooth disease type 4 [RCV000462434]|Charcot-Marie-Tooth disease type 4J [RCV000662126]|FIG4-related disorder [RCV003970280]|Inborn genetic diseases [RCV002411445]|Yunis-Varon syndrome [RCV000662128]|not provided [RCV001573278]|not specified [RCV001662424] Chr6:109741502 [GRCh38]
Chr6:110062705 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014845.6(FIG4):c.2199A>G (p.Glu733=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000462680]|not specified [RCV000605760] Chr6:109791394 [GRCh38]
Chr6:110112597 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q21(chr6:110080484-110472732)x1 copy number loss See cases [RCV000510562] Chr6:110080484..110472732 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 copy number loss See cases [RCV000510703] Chr6:97384446..110247755 [GRCh37]
Chr6:6q16.1-21		 pathogenic
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000560685]|not specified [RCV000506570] Chr6:109789643 [GRCh38]
Chr6:110110846 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001043299]|Charcot-Marie-Tooth disease type 4J [RCV003989563]|Inborn genetic diseases [RCV002420550]|not provided [RCV000579266] Chr6:109741461 [GRCh38]
Chr6:110062664 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1272-16T>C single nucleotide variant not specified [RCV000603202] Chr6:109762075 [GRCh38]
Chr6:110083278 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1812A>G (p.Lys604=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001413517]|Inborn genetic diseases [RCV002413733]|not specified [RCV000601382] Chr6:109776983 [GRCh38]
Chr6:110098186 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1923G>A (p.Lys641=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002060367] Chr6:109785003 [GRCh38]
Chr6:110106206 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2464G>C (p.Val822Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000540742] Chr6:109796769 [GRCh38]
Chr6:110117972 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1158T>C (p.His386=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002062998]|Inborn genetic diseases [RCV002368046]|not specified [RCV000615004] Chr6:109760270 [GRCh38]
Chr6:110081473 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2377-10T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000537556] Chr6:109792572 [GRCh38]
Chr6:110113775 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1205del (p.Asn402fs) deletion Charcot-Marie-Tooth disease type 4 [RCV000654037] Chr6:109760316 [GRCh38]
Chr6:110081519 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.66+13dup duplication Charcot-Marie-Tooth disease type 4 [RCV002064326]|not specified [RCV000610561] Chr6:109691513..109691514 [GRCh38]
Chr6:110012716..110012717 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654058]|FIG4-related disorder [RCV003918090] Chr6:109735236 [GRCh38]
Chr6:110056439 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654072]|not provided [RCV000756165] Chr6:109762167 [GRCh38]
Chr6:110083370 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.446+3A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654092] Chr6:109727268 [GRCh38]
Chr6:110048471 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1427G>A (p.Arg476His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654105] Chr6:109763975 [GRCh38]
Chr6:110085178 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2376+5G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654112]|FIG4-related disorder [RCV003420151] Chr6:109791576 [GRCh38]
Chr6:110112779 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2704A>G (p.Ile902Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654123]|not specified [RCV004702255] Chr6:109825245 [GRCh38]
Chr6:110146448 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2192A>G (p.Asn731Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654125] Chr6:109791387 [GRCh38]
Chr6:110112590 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654156]|not provided [RCV002272315] Chr6:109715091 [GRCh38]
Chr6:110036294 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.498-2A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654162] Chr6:109735148 [GRCh38]
Chr6:110056351 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654180] Chr6:109789595 [GRCh38]
Chr6:110110798 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001152671]|Charcot-Marie-Tooth disease type 4 [RCV000654183]|Charcot-Marie-Tooth disease type 4J [RCV001152670]|Inborn genetic diseases [RCV002442360] Chr6:109715120 [GRCh38]
Chr6:110036323 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654195]|FIG4-related disorder [RCV003403505] Chr6:109732639 [GRCh38]
Chr6:110053842 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1525C>T (p.Leu509=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001475940]|FIG4-related disorder [RCV003965414]|Inborn genetic diseases [RCV002388150] Chr6:109765103 [GRCh38]
Chr6:110086306 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1435-8C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654203]|FIG4-related disorder [RCV003892496] Chr6:109765005 [GRCh38]
Chr6:110086208 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.300G>A (p.Arg100=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173517]|Charcot-Marie-Tooth disease type 4 [RCV000654231]|not provided [RCV000998665] Chr6:109727119 [GRCh38]
Chr6:110048322 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.870C>T (p.Asn290=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654255]|Inborn genetic diseases [RCV002369760] Chr6:109741538 [GRCh38]
Chr6:110062741 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1740T>C (p.Asn580=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654214]|Inborn genetic diseases [RCV002406481] Chr6:109766885 [GRCh38]
Chr6:110088088 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001154805]|Charcot-Marie-Tooth disease type 4 [RCV000654270]|Charcot-Marie-Tooth disease type 4J [RCV001154806]|FIG4-related disorder [RCV003918092]|Inborn genetic diseases [RCV002360664]|not provided [RCV003488768] Chr6:109735292 [GRCh38]
Chr6:110056495 [GRCh37]
Chr6:6q21		 benign|likely benign|uncertain significance
NM_014845.6(FIG4):c.1350C>G (p.Arg450=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001437643]|Inborn genetic diseases [RCV002386116]|not specified [RCV001662713] Chr6:109762169 [GRCh38]
Chr6:110083372 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.705G>T (p.Leu235=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654290]|Inborn genetic diseases [RCV002360665] Chr6:109738383 [GRCh38]
Chr6:110059586 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.918C>T (p.Cys306=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173520]|Charcot-Marie-Tooth disease type 4 [RCV000654291]|not provided [RCV001310934] Chr6:109743151 [GRCh38]
Chr6:110064354 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789119]|Charcot-Marie-Tooth disease type 4 [RCV000539413]|Charcot-Marie-Tooth disease type 4J [RCV003447147]|not provided [RCV000991996] Chr6:109825236 [GRCh38]
Chr6:110146439 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2011A>G (p.Ile671Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000535793] Chr6:109786364 [GRCh38]
Chr6:110107567 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1949-15C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173282]|Charcot-Marie-Tooth disease type 4 [RCV003581687]|not specified [RCV000612017] Chr6:109786287 [GRCh38]
Chr6:110107490 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1809G>A (p.Gly603=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173277]|Charcot-Marie-Tooth disease type 4 [RCV000869046]|Inborn genetic diseases [RCV003302935]|not specified [RCV000605841] Chr6:109776980 [GRCh38]
Chr6:110098183 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:110113784-110113868)x1 copy number loss not provided [RCV000513394] Chr6:110113784..110113868 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer) inversion Charcot-Marie-Tooth disease [RCV000789117]|Inborn genetic diseases [RCV002461934]|Yunis-Varon syndrome [RCV003447151]|not provided [RCV000627390] Chr6:109760351..109760353 [GRCh38]
Chr6:110081554..110081556 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 6q21(chr6:110113784-110113868)x0 copy number loss not provided [RCV000513629] Chr6:110113784..110113868 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001152673]|Charcot-Marie-Tooth disease type 4 [RCV000822045]|Charcot-Marie-Tooth disease type 4J [RCV001152672]|FIG4-related disorder [RCV003420274]|Inborn genetic diseases [RCV002532973]|not provided [RCV001726321] Chr6:109716484 [GRCh38]
Chr6:110037687 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1		 pathogenic
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000686807]|Inborn genetic diseases [RCV002406540]|not provided [RCV003482297] Chr6:109777048 [GRCh38]
Chr6:110098251 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV002499285]|Charcot-Marie-Tooth disease type 4 [RCV001237155]|Inborn genetic diseases [RCV002442546]|not provided [RCV000711653] Chr6:109791555 [GRCh38]
Chr6:110112758 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1338C>G (p.Phe446Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000702341] Chr6:109762157 [GRCh38]
Chr6:110083360 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.590G>T (p.Arg197Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000686291] Chr6:109735242 [GRCh38]
Chr6:110056445 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.374A>G (p.Tyr125Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000702060] Chr6:109727193 [GRCh38]
Chr6:110048396 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000687842]|Charcot-Marie-Tooth disease type 4J [RCV003447154]|not provided [RCV003144493] Chr6:109792591 [GRCh38]
Chr6:110113794 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.414T>A (p.Asp138Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000693886] Chr6:109727233 [GRCh38]
Chr6:110048436 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.12:g.(?_109741424)_(109743792_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV000707780] Chr6:109741424..109743792 [GRCh38]
Chr6:110062627..110064995 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000702955]|Inborn genetic diseases [RCV002386257] Chr6:109762132 [GRCh38]
Chr6:110083335 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000694170] Chr6:109715148 [GRCh38]
Chr6:110036351 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.805G>T (p.Val269Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000689071] Chr6:109741473 [GRCh38]
Chr6:110062676 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.848G>A (p.Arg283His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000699815]|not provided [RCV000711657] Chr6:109741516 [GRCh38]
Chr6:110062719 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs) microsatellite Charcot-Marie-Tooth disease type 4 [RCV000694453]|Yunis-Varon syndrome [RCV003447156]|not provided [RCV001539508] Chr6:109791478..109791479 [GRCh38]
Chr6:110112681..110112682 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.2042A>G (p.Tyr681Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000686299] Chr6:109786395 [GRCh38]
Chr6:110107598 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000687376]|Inborn genetic diseases [RCV003278991] Chr6:109786389 [GRCh38]
Chr6:110107592 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.102G>A (p.Thr34=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001089191]|Inborn genetic diseases [RCV002386281]|not provided [RCV000711649] Chr6:109715113 [GRCh38]
Chr6:110036316 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001042734]|FIG4-related disorder [RCV003411648]|Inborn genetic diseases [RCV002532917]|not provided [RCV000711650] Chr6:109763953 [GRCh38]
Chr6:110085156 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000704549]|not provided [RCV000991991] Chr6:109760311 [GRCh38]
Chr6:110081514 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup) duplication Charcot-Marie-Tooth disease type 4 [RCV000693343] Chr6:109691433..109691434 [GRCh38]
Chr6:110012636..110012637 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.301T>C (p.Phe101Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000696526]|Inborn genetic diseases [RCV004619393] Chr6:109727120 [GRCh38]
Chr6:110048323 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000691678] Chr6:109715131 [GRCh38]
Chr6:110036334 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.110G>A (p.Arg37His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000694623] Chr6:109715121 [GRCh38]
Chr6:110036324 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q21(chr6:110050042-110117170)x3 copy number gain not provided [RCV000745972] Chr6:110050042..110117170 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1435-117TTTTTG[5] microsatellite not provided [RCV001666818] Chr6:109764896..109764901 [GRCh38]
Chr6:110086099..110086104 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.447-3dup duplication Amyotrophic lateral sclerosis type 11 [RCV001702852]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV001702735]|Charcot-Marie-Tooth disease [RCV000857162]|Charcot-Marie-Tooth disease type 4 [RCV001513753]|Charcot-Marie-Tooth disease type 4J [RCV001702851]|Yunis-Varon syndrome [RCV001703241]|not provided [RCV001675966]|not specified [RCV001529819] Chr6:109732621..109732622 [GRCh38]
Chr6:110053824..110053825 [GRCh37]
Chr6:6q21		 benign|uncertain significance
NM_014845.6(FIG4):c.1550A>G (p.Lys517Arg) single nucleotide variant Neuronopathy, distal hereditary motor, autosomal dominant [RCV000857167] Chr6:109765128 [GRCh38]
Chr6:110086331 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.498-87T>C single nucleotide variant not provided [RCV001571896] Chr6:109735063 [GRCh38]
Chr6:110056266 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.351G>A (p.Ala117=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000862623]|FIG4-related disorder [RCV003938225] Chr6:109727170 [GRCh38]
Chr6:110048373 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172958]|Charcot-Marie-Tooth disease type 4 [RCV000862624]|FIG4-related disorder [RCV003965654]|Inborn genetic diseases [RCV002352509] Chr6:109727220 [GRCh38]
Chr6:110048423 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1272-10C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173272]|Charcot-Marie-Tooth disease type 4 [RCV000875197] Chr6:109762081 [GRCh38]
Chr6:110083284 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1138-291G>A single nucleotide variant not provided [RCV001547324] Chr6:109759959 [GRCh38]
Chr6:110081162 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1443C>T (p.Ile481=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001474544] Chr6:109765021 [GRCh38]
Chr6:110086224 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001221871]|Inborn genetic diseases [RCV002343615]|not provided [RCV000762431] Chr6:109735200 [GRCh38]
Chr6:110056403 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.165+228C>T single nucleotide variant not provided [RCV001565831] Chr6:109715404 [GRCh38]
Chr6:110036607 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1403G>A (p.Gly468Glu) single nucleotide variant not provided [RCV000991992] Chr6:109763951 [GRCh38]
Chr6:110085154 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1434+54G>A single nucleotide variant not provided [RCV001574535] Chr6:109764036 [GRCh38]
Chr6:110085239 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095517]|not provided [RCV001555730] Chr6:109765026 [GRCh38]
Chr6:110086229 [GRCh37]
Chr6:6q21		 likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.717A>G (p.Lys239=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001502215]|FIG4-related disorder [RCV003948154]|Inborn genetic diseases [RCV003169156] Chr6:109738395 [GRCh38]
Chr6:110059598 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000866185]|FIG4-related disorder [RCV003918378]|not provided [RCV003432811] Chr6:109791427 [GRCh38]
Chr6:110112630 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2685C>T (p.Ser895=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001456335] Chr6:109825226 [GRCh38]
Chr6:110146429 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+10C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000869385] Chr6:109716578 [GRCh38]
Chr6:110037781 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2459+7T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001412676] Chr6:109792671 [GRCh38]
Chr6:110113874 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.516C>T (p.Ser172=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001391771] Chr6:109735168 [GRCh38]
Chr6:110056371 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000870780]|Inborn genetic diseases [RCV002442856] Chr6:109792611 [GRCh38]
Chr6:110113814 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001088208]|Inborn genetic diseases [RCV002427121]|not provided [RCV000865187] Chr6:109825109 [GRCh38]
Chr6:110146312 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2640C>T (p.Ile880=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001438595] Chr6:109825181 [GRCh38]
Chr6:110146384 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.876+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000924522]|not provided [RCV004546580] Chr6:109741552 [GRCh38]
Chr6:110062755 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857165] Chr6:109743708 [GRCh38]
Chr6:110064911 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173519]|Charcot-Marie-Tooth disease type 4 [RCV000866197]|Inborn genetic diseases [RCV003169126] Chr6:109791436 [GRCh38]
Chr6:110112639 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.42G>A (p.Lys14=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173283]|Charcot-Marie-Tooth disease type 4 [RCV000869030] Chr6:109691477 [GRCh38]
Chr6:110012680 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1602T>C (p.Tyr534=) single nucleotide variant not provided [RCV000929130] Chr6:109766747 [GRCh38]
Chr6:110087950 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2403A>G (p.Leu801=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001058169]|FIG4-related disorder [RCV003963019] Chr6:109792608 [GRCh38]
Chr6:110113811 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172956]|Charcot-Marie-Tooth disease type 4 [RCV001040749]|Inborn genetic diseases [RCV002427505] Chr6:109789638 [GRCh38]
Chr6:110110841 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.52T>C (p.Tyr18His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001062258]|Inborn genetic diseases [RCV002348449] Chr6:109691487 [GRCh38]
Chr6:110012690 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.266C>T (p.Ala89Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001058635]|Inborn genetic diseases [RCV002436631] Chr6:109716545 [GRCh38]
Chr6:110037748 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001053342]|not provided [RCV002261267] Chr6:109727220 [GRCh38]
Chr6:110048423 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs) microsatellite Charcot-Marie-Tooth disease type 4 [RCV001051768] Chr6:109792633..109792634 [GRCh38]
Chr6:110113836..110113837 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001042757]|not provided [RCV004546595] Chr6:109691451 [GRCh38]
Chr6:110012654 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1434G>A (p.Gln478=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001052721] Chr6:109763982 [GRCh38]
Chr6:110085185 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001054345] Chr6:109716454 [GRCh38]
Chr6:110037657 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) duplication Charcot-Marie-Tooth disease [RCV000789707]|Charcot-Marie-Tooth disease type 4 [RCV001387550]|Charcot-Marie-Tooth disease type 4J [RCV003447236]|Inborn genetic diseases [RCV002442610]|not provided [RCV004719987] Chr6:109791491..109791492 [GRCh38]
Chr6:110112694..110112695 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789754]|Charcot-Marie-Tooth disease type 4 [RCV003581720]|Charcot-Marie-Tooth disease type 4J [RCV003447254] Chr6:109766820 [GRCh38]
Chr6:110088023 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.1137+10G>A single nucleotide variant not provided [RCV000907979] Chr6:109743782 [GRCh38]
Chr6:110064985 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001154808]|Charcot-Marie-Tooth disease [RCV001172965]|Charcot-Marie-Tooth disease type 4 [RCV000860529]|Charcot-Marie-Tooth disease type 4J [RCV001154807]|FIG4-related disorder [RCV003892776]|Inborn genetic diseases [RCV002372390] Chr6:109738336 [GRCh38]
Chr6:110059539 [GRCh37]
Chr6:6q21		 benign|likely benign|uncertain significance
NM_014845.6(FIG4):c.885T>A (p.Val295=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001392577] Chr6:109743118 [GRCh38]
Chr6:110064321 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.66+8C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001409418] Chr6:109691509 [GRCh38]
Chr6:110012712 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.645C>T (p.Ser215=) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857164]|Charcot-Marie-Tooth disease type 4 [RCV001858531] Chr6:109735297 [GRCh38]
Chr6:110056500 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2574T>C (p.Asp858=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000979881] Chr6:109825115 [GRCh38]
Chr6:110146318 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.54T>C (p.Tyr18=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001485077] Chr6:109691489 [GRCh38]
Chr6:110012692 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1620C>T (p.Thr540=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000860641]|not provided [RCV001556509] Chr6:109766765 [GRCh38]
Chr6:110087968 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:109920344-110080533)x1 copy number loss not provided [RCV001005839] Chr6:109920344..110080533 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2069T>C (p.Phe690Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000820845] Chr6:109786422 [GRCh38]
Chr6:110107625 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000797429]|Inborn genetic diseases [RCV002386405]|not provided [RCV001585721] Chr6:109762194 [GRCh38]
Chr6:110083397 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1434+181G>T single nucleotide variant not provided [RCV000841615] Chr6:109764163 [GRCh38]
Chr6:110085366 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1272-238C>T single nucleotide variant not provided [RCV000841647] Chr6:109761853 [GRCh38]
Chr6:110083056 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857163] Chr6:109735269 [GRCh38]
Chr6:110056472 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857166]|Charcot-Marie-Tooth disease type 4 [RCV001858532]|FIG4-related disorder [RCV003411830] Chr6:109765052 [GRCh38]
Chr6:110086255 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2376+2T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000857170] Chr6:109791573 [GRCh38]
Chr6:110112776 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001152897]|Charcot-Marie-Tooth disease [RCV000857172]|Charcot-Marie-Tooth disease type 4J [RCV001152896]|not provided [RCV001508195] Chr6:109825093 [GRCh38]
Chr6:110146296 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.876+126T>G single nucleotide variant not provided [RCV000839915] Chr6:109741670 [GRCh38]
Chr6:110062873 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1434+238T>C single nucleotide variant not provided [RCV000839917] Chr6:109764220 [GRCh38]
Chr6:110085423 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2097-243A>C single nucleotide variant not provided [RCV000839920] Chr6:109789351 [GRCh38]
Chr6:110110554 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2661dup (p.Gln888fs) duplication Charcot-Marie-Tooth disease type 4 [RCV000823790]|FIG4-related disorder [RCV003411819] Chr6:109825201..109825202 [GRCh38]
Chr6:110146404..110146405 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000819816]|Yunis-Varon syndrome [RCV001331904] Chr6:109825254 [GRCh38]
Chr6:110146457 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1949-308G>A single nucleotide variant not provided [RCV000829680] Chr6:109785994 [GRCh38]
Chr6:110107197 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.447-119T>G single nucleotide variant not provided [RCV000832717] Chr6:109732518 [GRCh38]
Chr6:110053721 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2181-10C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000800008] Chr6:109791366 [GRCh38]
Chr6:110112569 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000824501]|Inborn genetic diseases [RCV002408998] Chr6:109785008 [GRCh38]
Chr6:110106211 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172964]|not specified [RCV000785131] Chr6:109777006 [GRCh38]
Chr6:110098209 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1948+46C>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001702732]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV001703239]|Charcot-Marie-Tooth disease type 4J [RCV001702846]|Yunis-Varon syndrome [RCV001702847]|not provided [RCV000832878] Chr6:109785074 [GRCh38]
Chr6:110106277 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1750+3A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000800110] Chr6:109766898 [GRCh38]
Chr6:110088101 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2180+63G>T single nucleotide variant not provided [RCV000829681] Chr6:109789740 [GRCh38]
Chr6:110110943 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2460-252A>G single nucleotide variant not provided [RCV000833496] Chr6:109796513 [GRCh38]
Chr6:110117716 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.775+298G>A single nucleotide variant not provided [RCV000826922] Chr6:109738751 [GRCh38]
Chr6:110059954 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1363T>G (p.Cys455Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000792910] Chr6:109762182 [GRCh38]
Chr6:110083385 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2546+17A>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002062206]|not provided [RCV000827046] Chr6:109796868 [GRCh38]
Chr6:110118071 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) indel Charcot-Marie-Tooth disease [RCV000789753]|Charcot-Marie-Tooth disease type 4J [RCV003447253] Chr6:109760259..109760260 [GRCh38]
Chr6:110081462..110081463 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:109726649-110071067)x3 copy number gain not provided [RCV000846803] Chr6:109726649..110071067 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) deletion Charcot-Marie-Tooth disease type 4 [RCV002550724]|not provided [RCV000998666] Chr6:109727132..109727136 [GRCh38]
Chr6:110048335..110048339 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.1138-45A>T single nucleotide variant not provided [RCV000841682] Chr6:109760205 [GRCh38]
Chr6:110081408 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) duplication Charcot-Marie-Tooth disease [RCV000789121]|Charcot-Marie-Tooth disease type 4 [RCV001387549]|Charcot-Marie-Tooth disease type 4J [RCV003447177] Chr6:109786338..109786339 [GRCh38]
Chr6:110107541..110107542 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) indel Charcot-Marie-Tooth disease [RCV000789752]|Charcot-Marie-Tooth disease type 4J [RCV003447252] Chr6:109741458..109741461 [GRCh38]
Chr6:110062661..110062664 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.877-2A>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000789756]|Charcot-Marie-Tooth disease type 4 [RCV001873222]|Charcot-Marie-Tooth disease type 4J [RCV003447255]|FIG4-related disorder [RCV003411740]|Inborn genetic diseases [RCV002370062]|not provided [RCV001655597] Chr6:109743108 [GRCh38]
Chr6:110064311 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.290-147C>T single nucleotide variant not provided [RCV000832716] Chr6:109726962 [GRCh38]
Chr6:110048165 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000791850]|Inborn genetic diseases [RCV002334466] Chr6:109760299 [GRCh38]
Chr6:110081502 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.289+331G>A single nucleotide variant not provided [RCV000826921] Chr6:109716899 [GRCh38]
Chr6:110038102 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000809504]|Inborn genetic diseases [RCV002370172] Chr6:109741540 [GRCh38]
Chr6:110062743 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.290-2A>G single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV000790989]|Charcot-Marie-Tooth disease type 4J [RCV000790987]|Yunis-Varon syndrome [RCV000790988] Chr6:109727107 [GRCh38]
Chr6:110048310 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.155T>C (p.Ile52Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000792093] Chr6:109715166 [GRCh38]
Chr6:110036369 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV000857168]|Charcot-Marie-Tooth disease type 4 [RCV000818026] Chr6:109777051 [GRCh38]
Chr6:110098254 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1271+5A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001158266]|Charcot-Marie-Tooth disease [RCV001173274]|Charcot-Marie-Tooth disease type 4 [RCV000821312]|Charcot-Marie-Tooth disease type 4J [RCV001158267]|FIG4-related disorder [RCV003908110]|Inborn genetic diseases [RCV002372344] Chr6:109760388 [GRCh38]
Chr6:110081591 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1138-175G>T single nucleotide variant not provided [RCV000836855] Chr6:109760075 [GRCh38]
Chr6:110081278 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.512_514del (p.Leu171del) deletion Charcot-Marie-Tooth disease type 4 [RCV000805274] Chr6:109735163..109735165 [GRCh38]
Chr6:110056366..110056368 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2459+5G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000812704]|not provided [RCV002272366] Chr6:109792669 [GRCh38]
Chr6:110113872 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000822576]|Inborn genetic diseases [RCV002345905]|not provided [RCV000998667] Chr6:109735187 [GRCh38]
Chr6:110056390 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1149_1150delinsT (p.Lys383fs) indel Charcot-Marie-Tooth disease [RCV000789116]|Charcot-Marie-Tooth disease type 4J [RCV003447176] Chr6:109760261..109760262 [GRCh38]
Chr6:110081464..110081465 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001145128.3(AK9):c.-12+76T>C single nucleotide variant not provided [RCV000826920] Chr6:109691071 [GRCh38]
Chr6:110012274 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1305G>C (p.Val435=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173284]|Charcot-Marie-Tooth disease type 4 [RCV001087204]|not provided [RCV000826928] Chr6:109762124 [GRCh38]
Chr6:110083327 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.165+100A>T single nucleotide variant not provided [RCV000841644] Chr6:109715276 [GRCh38]
Chr6:110036479 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1836A>G (p.Thr612=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002540146] Chr6:109777007 [GRCh38]
Chr6:110098210 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1584-317T>C single nucleotide variant not provided [RCV000827697] Chr6:109766412 [GRCh38]
Chr6:110087615 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.776-270C>T single nucleotide variant not provided [RCV000832766] Chr6:109741174 [GRCh38]
Chr6:110062377 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000824071]|not provided [RCV001508192] Chr6:109760299 [GRCh38]
Chr6:110081502 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2132del (p.Ser711fs) deletion Charcot-Marie-Tooth disease, type I [RCV000857169] Chr6:109789629 [GRCh38]
Chr6:110110832 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.12:g.(?_109825078)_(109825275_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV001031246] Chr6:110146281..110146478 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172953] Chr6:109792646 [GRCh38]
Chr6:110113849 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172963]|Charcot-Marie-Tooth disease type 4 [RCV002558742]|Inborn genetic diseases [RCV002451351] Chr6:109791522 [GRCh38]
Chr6:110112725 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.121A>G (p.Ile41Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001065785] Chr6:109715132 [GRCh38]
Chr6:110036335 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1181TTG[1] (p.Val395del) microsatellite Charcot-Marie-Tooth disease type 4 [RCV001044642] Chr6:109760293..109760295 [GRCh38]
Chr6:110081496..110081498 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.218G>A (p.Gly73Glu) single nucleotide variant not provided [RCV000998664] Chr6:109716497 [GRCh38]
Chr6:110037700 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:109721133-110193742)x3 copy number gain not provided [RCV000848987] Chr6:109721133..110193742 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1331del (p.Thr444fs) deletion not provided [RCV001008856] Chr6:109762150 [GRCh38]
Chr6:110083353 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV002489468]|Charcot-Marie-Tooth disease type 4 [RCV001341199]|Charcot-Marie-Tooth disease type 4J [RCV003147570]|FIG4-related disorder [RCV003918621]|Inborn genetic diseases [RCV002454236]|not provided [RCV000991994] Chr6:109792649 [GRCh38]
Chr6:110113852 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.498-13A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172952]|Charcot-Marie-Tooth disease type 4 [RCV001873604] Chr6:109735137 [GRCh38]
Chr6:110056340 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.799G>C (p.Val267Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172957] Chr6:109741467 [GRCh38]
Chr6:110062670 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.446+32dup duplication Amyotrophic lateral sclerosis type 11 [RCV001702088]|Bilateral parasagittal parieto-occipital polymicrogyria [RCV001703087]|Charcot-Marie-Tooth disease [RCV001174143]|Charcot-Marie-Tooth disease type 4J [RCV001702770]|Yunis-Varon syndrome [RCV001702881]|not provided [RCV001644932] Chr6:109727286..109727287 [GRCh38]
Chr6:110048489..110048490 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1150del (p.Arg384fs) deletion Amyotrophic lateral sclerosis type 11 [RCV000987759] Chr6:109760259 [GRCh38]
Chr6:110081462 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001213834] Chr6:109766803 [GRCh38]
Chr6:110088006 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.968A>G (p.Gln323Arg) single nucleotide variant Yunis-Varon syndrome [RCV000984907] Chr6:109743201 [GRCh38]
Chr6:110064404 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1728A>G (p.Arg576=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001237124] Chr6:109766873 [GRCh38]
Chr6:110088076 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001209168] Chr6:109743751 [GRCh38]
Chr6:110064954 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2065dup (p.Thr689fs) duplication Charcot-Marie-Tooth disease type 4 [RCV001222516] Chr6:109786417..109786418 [GRCh38]
Chr6:110107620..110107621 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001239237]|Inborn genetic diseases [RCV002366052] Chr6:109760340 [GRCh38]
Chr6:110081543 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001220497] Chr6:109786349 [GRCh38]
Chr6:110107552 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001217819] Chr6:109727172 [GRCh38]
Chr6:110048375 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001207097] Chr6:109741533 [GRCh38]
Chr6:110062736 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.469G>A (p.Val157Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001065121] Chr6:109732659 [GRCh38]
Chr6:110053862 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001240557] Chr6:109777041 [GRCh38]
Chr6:110098244 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001223460]|Inborn genetic diseases [RCV002348749] Chr6:109691488 [GRCh38]
Chr6:110012691 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2547-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001207369]|Charcot-Marie-Tooth disease type 4J [RCV003447318]|Inborn genetic diseases [RCV003363159]|not provided [RCV001508194] Chr6:109825087 [GRCh38]
Chr6:110146290 [GRCh37]
Chr6:6q21		 likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173516]|Charcot-Marie-Tooth disease type 4 [RCV001465255]|Inborn genetic diseases [RCV003363135]|not provided [RCV003737018] Chr6:109762160 [GRCh38]
Chr6:110083363 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001202640] Chr6:109716560 [GRCh38]
Chr6:110037763 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001204549]|not provided [RCV003482339] Chr6:109716523 [GRCh38]
Chr6:110037726 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:110141405-110220627)x1 copy number loss not provided [RCV000845774] Chr6:110141405..110220627 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2546+5G>C single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001156578]|Charcot-Marie-Tooth disease type 4J [RCV001156577] Chr6:109796856 [GRCh38]
Chr6:110118059 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2147G>A (p.Arg716His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001246976] Chr6:109789644 [GRCh38]
Chr6:110110847 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.646+20C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003105120] Chr6:109735318 [GRCh38]
Chr6:110056521 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003104998] Chr6:109765126 [GRCh38]
Chr6:110086329 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002538573]|Inborn genetic diseases [RCV004616761]|not provided [RCV001663567] Chr6:109732644 [GRCh38]
Chr6:110053847 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.1751-294A>G single nucleotide variant not provided [RCV001581531] Chr6:109776628 [GRCh38]
Chr6:110097831 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2097-217C>T single nucleotide variant not provided [RCV001574156] Chr6:109789377 [GRCh38]
Chr6:110110580 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1889+309T>C single nucleotide variant not provided [RCV001549588] Chr6:109777369 [GRCh38]
Chr6:110098572 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1584-315G>A single nucleotide variant not provided [RCV001720841] Chr6:109766414 [GRCh38]
Chr6:110087617 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2377-10del deletion Charcot-Marie-Tooth disease type 4 [RCV003771806]|not provided [RCV001614531]|not specified [RCV001699825] Chr6:109792561 [GRCh38]
Chr6:110113764 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2377-71T>G single nucleotide variant not provided [RCV001588735] Chr6:109792511 [GRCh38]
Chr6:110113714 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.497+227T>A single nucleotide variant not provided [RCV001534259] Chr6:109732914 [GRCh38]
Chr6:110054117 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.497+246T>C single nucleotide variant not provided [RCV001725535] Chr6:109732933 [GRCh38]
Chr6:110054136 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.877-54_877-50del deletion not provided [RCV001639291] Chr6:109743053..109743057 [GRCh38]
Chr6:110064256..110064260 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1948+56T>C single nucleotide variant not provided [RCV001716159] Chr6:109785084 [GRCh38]
Chr6:110106287 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1584-30A>C single nucleotide variant not provided [RCV001557827] Chr6:109766699 [GRCh38]
Chr6:110087902 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2460-127C>T single nucleotide variant not provided [RCV001716360] Chr6:109796638 [GRCh38]
Chr6:110117841 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1435-117TTTTTG[8] microsatellite not provided [RCV001670000] Chr6:109764895..109764896 [GRCh38]
Chr6:110086098..110086099 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2459+91del deletion not provided [RCV001686681] Chr6:109792737 [GRCh38]
Chr6:110113940 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2097-10C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173273]|Charcot-Marie-Tooth disease type 4 [RCV001484555] Chr6:109789584 [GRCh38]
Chr6:110110787 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2235C>T (p.Ala745=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001415638] Chr6:109791430 [GRCh38]
Chr6:110112633 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1272-8C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001472854] Chr6:109762083 [GRCh38]
Chr6:110083286 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.811C>T (p.Leu271=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001490613] Chr6:109741479 [GRCh38]
Chr6:110062682 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2145G>A (p.Val715=) single nucleotide variant not provided [RCV000910800] Chr6:109789642 [GRCh38]
Chr6:110110845 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.207C>T (p.Arg69=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001403800] Chr6:109716486 [GRCh38]
Chr6:110037689 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001239272]|Yunis-Varon syndrome [RCV001196148] Chr6:109786371 [GRCh38]
Chr6:110107574 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.446+5G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001231761] Chr6:109727270 [GRCh38]
Chr6:110048473 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2096+3A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001154906]|Charcot-Marie-Tooth disease type 4 [RCV002032427]|Charcot-Marie-Tooth disease type 4J [RCV001154905]|Inborn genetic diseases [RCV002418598] Chr6:109786452 [GRCh38]
Chr6:110107655 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1750+1del deletion Charcot-Marie-Tooth disease type 4 [RCV001223602]|Yunis-Varon syndrome [RCV003447320]|not provided [RCV001587250] Chr6:109766895 [GRCh38]
Chr6:110088098 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001245467] Chr6:109791378 [GRCh38]
Chr6:110112581 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001037129] Chr6:109776975 [GRCh38]
Chr6:110098178 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001152790]|Charcot-Marie-Tooth disease type 4 [RCV001465252]|Charcot-Marie-Tooth disease type 4J [RCV001152791] Chr6:109765060 [GRCh38]
Chr6:110086263 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001047740]|FIG4-related disorder [RCV003898053] Chr6:109786352 [GRCh38]
Chr6:110107555 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001227509] Chr6:109777005 [GRCh38]
Chr6:110098208 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.183A>G (p.Gln61=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001067200] Chr6:109716462 [GRCh38]
Chr6:110037665 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2377-18T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173265]|Charcot-Marie-Tooth disease type 4 [RCV002068079] Chr6:109792564 [GRCh38]
Chr6:110113767 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2377-19T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173532]|Charcot-Marie-Tooth disease type 4 [RCV001514686]|not provided [RCV001683746]|not specified [RCV001580048] Chr6:109792563 [GRCh38]
Chr6:110113766 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001225217]|not provided [RCV001751436] Chr6:109776979 [GRCh38]
Chr6:110098182 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001225624]|Inborn genetic diseases [RCV002429957] Chr6:109825132 [GRCh38]
Chr6:110146335 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.882T>C (p.Asp294=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002065839] Chr6:109743115 [GRCh38]
Chr6:110064318 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003744687]|not provided [RCV000998668] Chr6:109765025 [GRCh38]
Chr6:110086228 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.1386A>G (p.Glu462=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000912682] Chr6:109762205 [GRCh38]
Chr6:110083408 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1932A>G (p.Pro644=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001447059] Chr6:109785012 [GRCh38]
Chr6:110106215 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1435-117TTTTTG[7] microsatellite not provided [RCV001556615] Chr6:109764895..109764896 [GRCh38]
Chr6:110086098..110086099 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2174dup (p.Leu726fs) duplication Charcot-Marie-Tooth disease type 4J [RCV001730134] Chr6:109789670..109789671 [GRCh38]
Chr6:110110873..110110874 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.498-145A>G single nucleotide variant not provided [RCV001551516] Chr6:109735005 [GRCh38]
Chr6:110056208 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.776-96G>T single nucleotide variant not provided [RCV001677235] Chr6:109741348 [GRCh38]
Chr6:110062551 [GRCh37]
Chr6:6q21		 benign
NC_000006.12:g.109825565A>G single nucleotide variant not provided [RCV001557996] Chr6:109825565 [GRCh38]
Chr6:110146768 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1109C>T (p.Ser370Phe) single nucleotide variant FIG4-related disorder [RCV004551912] Chr6:109743744 [GRCh38]
Chr6:110064947 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1889G>A (p.Ser630Asn) single nucleotide variant FIG4-related disorder [RCV004551913] Chr6:109777060 [GRCh38]
Chr6:110098263 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1138-284A>G single nucleotide variant not provided [RCV001559683] Chr6:109759966 [GRCh38]
Chr6:110081169 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.497+61G>A single nucleotide variant not provided [RCV001564281] Chr6:109732748 [GRCh38]
Chr6:110053951 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2460-38C>T single nucleotide variant not provided [RCV001636062] Chr6:109796727 [GRCh38]
Chr6:110117930 [GRCh37]
Chr6:6q21		 benign
GRCh37/hg19 6q21(chr6:109564694-112232351)x1 copy number loss not provided [RCV001007557] Chr6:109564694..112232351 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.289+151A>G single nucleotide variant not provided [RCV001620139] Chr6:109716719 [GRCh38]
Chr6:110037922 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1890-101G>T single nucleotide variant not provided [RCV001689239] Chr6:109784869 [GRCh38]
Chr6:110106072 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.497+175A>T single nucleotide variant not provided [RCV001594248] Chr6:109732862 [GRCh38]
Chr6:110054065 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2459+59C>T single nucleotide variant not provided [RCV001593588] Chr6:109792723 [GRCh38]
Chr6:110113926 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.67-165T>C single nucleotide variant not provided [RCV001598390] Chr6:109714913 [GRCh38]
Chr6:110036116 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1949-121G>A single nucleotide variant not provided [RCV001718534] Chr6:109786181 [GRCh38]
Chr6:110107384 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1434+72A>G single nucleotide variant not provided [RCV001674879] Chr6:109764054 [GRCh38]
Chr6:110085257 [GRCh37]
Chr6:6q21		 benign
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1		 pathogenic
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001156576]|Charcot-Marie-Tooth disease type 4 [RCV002032444]|Charcot-Marie-Tooth disease type 4J [RCV001156575] Chr6:109791417 [GRCh38]
Chr6:110112620 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.744G>A (p.Leu248=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173279]|not provided [RCV001664727] Chr6:109738422 [GRCh38]
Chr6:110059625 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.66+18G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173515]|Charcot-Marie-Tooth disease type 4 [RCV002067853] Chr6:109691519 [GRCh38]
Chr6:110012722 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-4_447-3dup duplication Charcot-Marie-Tooth disease [RCV001173536]|Charcot-Marie-Tooth disease type 4 [RCV002067854]|not provided [RCV001575850]|not specified [RCV001700713] Chr6:109732621..109732622 [GRCh38]
Chr6:110053824..110053825 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001066094]|Inborn genetic diseases [RCV002445342]|not provided [RCV001760040] Chr6:109791524 [GRCh38]
Chr6:110112727 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001066187]|Inborn genetic diseases [RCV002327349] Chr6:109715127 [GRCh38]
Chr6:110036330 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172961] Chr6:109776934 [GRCh38]
Chr6:110098137 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.718del (p.Ser240fs) deletion not provided [RCV001172173] Chr6:109738393 [GRCh38]
Chr6:110059596 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.170T>A (p.Val57Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001048265] Chr6:109716449 [GRCh38]
Chr6:110037652 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1137+111G>A single nucleotide variant not provided [RCV001644207] Chr6:109743883 [GRCh38]
Chr6:110065086 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1137+77_1137+79del deletion not provided [RCV001652732] Chr6:109743847..109743849 [GRCh38]
Chr6:110065050..110065052 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1584-84T>A single nucleotide variant not provided [RCV001648945] Chr6:109766645 [GRCh38]
Chr6:110087848 [GRCh37]
Chr6:6q21		 benign
NM_014845.5(FIG4):c.-152C>A single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001152567]|Charcot-Marie-Tooth disease type 4J [RCV001153848] Chr6:109691284 [GRCh38]
Chr6:110012487 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1949-10T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172959]|Charcot-Marie-Tooth disease type 4 [RCV001873605]|See cases [RCV002287478]|not provided [RCV003883567] Chr6:109786292 [GRCh38]
Chr6:110107495 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172962]|Charcot-Marie-Tooth disease type 4 [RCV002558741]|Inborn genetic diseases [RCV002418604] Chr6:109716481 [GRCh38]
Chr6:110037684 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.252G>A (p.Ser84=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173271]|Charcot-Marie-Tooth disease type 4 [RCV001501700] Chr6:109716531 [GRCh38]
Chr6:110037734 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1356T>C (p.Asp452=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173278] Chr6:109762175 [GRCh38]
Chr6:110083378 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2377-20_2377-19insCT insertion Charcot-Marie-Tooth disease [RCV001173286] Chr6:109792561..109792562 [GRCh38]
Chr6:110113764..110113765 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+17C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173518]|Charcot-Marie-Tooth disease type 4 [RCV002068088] Chr6:109716585 [GRCh38]
Chr6:110037788 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.105A>G (p.Lys35=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173521] Chr6:109715116 [GRCh38]
Chr6:110036319 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1750+11A>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173525]|Charcot-Marie-Tooth disease type 4 [RCV002558756] Chr6:109766906 [GRCh38]
Chr6:110088109 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2180+20C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173280]|Charcot-Marie-Tooth disease type 4 [RCV002068080] Chr6:109789697 [GRCh38]
Chr6:110110900 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2319T>C (p.Ser773=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173526]|Charcot-Marie-Tooth disease type 4 [RCV002559663]|Inborn genetic diseases [RCV002445410] Chr6:109791514 [GRCh38]
Chr6:110112717 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2377-20_2377-19insC insertion Charcot-Marie-Tooth disease [RCV001173533]|Charcot-Marie-Tooth disease type 4 [RCV001510459]|not specified [RCV001579812] Chr6:109792562..109792563 [GRCh38]
Chr6:110113765..110113766 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.447-17dup duplication Amyotrophic lateral sclerosis type 11 [RCV002491488]|Charcot-Marie-Tooth disease [RCV001173534]|Charcot-Marie-Tooth disease type 4 [RCV001459420]|not provided [RCV001564149]|not specified [RCV001702087] Chr6:109732617..109732618 [GRCh38]
Chr6:110053820..110053821 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.289+280A>G single nucleotide variant not provided [RCV001589753] Chr6:109716848 [GRCh38]
Chr6:110038051 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1751-334T>A single nucleotide variant not provided [RCV001691442] Chr6:109776588 [GRCh38]
Chr6:110097791 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1040-98T>G single nucleotide variant not provided [RCV001609673] Chr6:109743577 [GRCh38]
Chr6:110064780 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2459+90_2459+91del deletion not provided [RCV001672242] Chr6:109792737..109792738 [GRCh38]
Chr6:110113940..110113941 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1583+1G>T single nucleotide variant Yunis-Varon syndrome [RCV001619775] Chr6:109765162 [GRCh38]
Chr6:110086365 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.647-48C>T single nucleotide variant not provided [RCV001545494] Chr6:109738277 [GRCh38]
Chr6:110059480 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001045730]|Inborn genetic diseases [RCV002348373] Chr6:109735211 [GRCh38]
Chr6:110056414 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001068042] Chr6:109796790 [GRCh38]
Chr6:110117993 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.447-2A>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001041528] Chr6:109732635 [GRCh38]
Chr6:110053838 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001219767]|Inborn genetic diseases [RCV002451501] Chr6:109825228 [GRCh38]
Chr6:110146431 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001206469]|FIG4-related disorder [RCV003963125]|not provided [RCV003482341] Chr6:109789613 [GRCh38]
Chr6:110110816 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001053371]|Inborn genetic diseases [RCV002416395] Chr6:109741477 [GRCh38]
Chr6:110062680 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.321T>G (p.Ile107Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001039625]|Inborn genetic diseases [RCV002320246] Chr6:109727140 [GRCh38]
Chr6:110048343 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001219058] Chr6:109727178 [GRCh38]
Chr6:110048381 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2247dup (p.Ser750fs) duplication Charcot-Marie-Tooth disease [RCV001172951] Chr6:109791436..109791437 [GRCh38]
Chr6:110112639..110112640 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172955]|Charcot-Marie-Tooth disease type 4 [RCV001228149] Chr6:109762153 [GRCh38]
Chr6:110083356 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172967] Chr6:109743757 [GRCh38]
Chr6:110064960 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1A>C (p.Met1Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001232509] Chr6:109691436 [GRCh38]
Chr6:110012639 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001206196]|Inborn genetic diseases [RCV003346363]|not provided [RCV001751379] Chr6:109741456 [GRCh38]
Chr6:110062659 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001054797] Chr6:109727253 [GRCh38]
Chr6:110048456 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2250C>T (p.Ser750=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001059207]|Inborn genetic diseases [RCV002445308] Chr6:109791445 [GRCh38]
Chr6:110112648 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1889+9C>T single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001154063]|Charcot-Marie-Tooth disease type 4J [RCV001154062] Chr6:109777069 [GRCh38]
Chr6:110098272 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001154183]|Charcot-Marie-Tooth disease type 4 [RCV002032421]|Charcot-Marie-Tooth disease type 4J [RCV001154184]|not provided [RCV001664709] Chr6:109825231 [GRCh38]
Chr6:110146434 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1890-2A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001205918] Chr6:109784968 [GRCh38]
Chr6:110106171 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001059696] Chr6:109766746 [GRCh38]
Chr6:110087949 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1801del (p.Thr601fs) deletion Charcot-Marie-Tooth disease [RCV001172950] Chr6:109776972 [GRCh38]
Chr6:110098175 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172954] Chr6:109776965 [GRCh38]
Chr6:110098168 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172968] Chr6:109789613 [GRCh38]
Chr6:110110816 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1536G>T (p.Leu512=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173269] Chr6:109765114 [GRCh38]
Chr6:110086317 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-16delinsTT indel Amyotrophic lateral sclerosis type 11 [RCV002497606]|Charcot-Marie-Tooth disease [RCV001173524] Chr6:109732621 [GRCh38]
Chr6:110053824 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.490del (p.Tyr164fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001064731] Chr6:109732676 [GRCh38]
Chr6:110053879 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001055065]|Inborn genetic diseases [RCV002429665] Chr6:109716530 [GRCh38]
Chr6:110037733 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1751-16A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002069281]|Yunis-Varon syndrome [RCV001196586] Chr6:109776906 [GRCh38]
Chr6:110098109 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001233002] Chr6:109825195 [GRCh38]
Chr6:110146398 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1749_1750+7del deletion Charcot-Marie-Tooth disease type 4 [RCV001215143]|Inborn genetic diseases [RCV002402642] Chr6:109766891..109766899 [GRCh38]
Chr6:110088094..110088102 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001048808] Chr6:109760332 [GRCh38]
Chr6:110081535 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001215473]|Charcot-Marie-Tooth disease type 4J [RCV003483791] Chr6:109791491 [GRCh38]
Chr6:110112694 [GRCh37]
Chr6:6q21		 uncertain significance|not provided
NM_014845.6(FIG4):c.69A>G (p.Arg23=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001063773] Chr6:109715080 [GRCh38]
Chr6:110036283 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1475G>C (p.Arg492Pro) single nucleotide variant Cerebral hypomyelination [RCV001254716] Chr6:109765053 [GRCh38]
Chr6:110086256 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1949-148A>G single nucleotide variant not provided [RCV001580983] Chr6:109786154 [GRCh38]
Chr6:110107357 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1069G>A (p.Ala357Thr) single nucleotide variant not provided [RCV001663566] Chr6:109743704 [GRCh38]
Chr6:110064907 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1085A>T (p.Asp362Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001313370] Chr6:109743720 [GRCh38]
Chr6:110064923 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln) single nucleotide variant Amyotrophic lateral sclerosis [RCV001843580]|Charcot-Marie-Tooth disease type 4 [RCV001294855] Chr6:109727241 [GRCh38]
Chr6:110048444 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1978A>T (p.Ile660Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001295110] Chr6:109786331 [GRCh38]
Chr6:110107534 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2617A>C (p.Thr873Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001313762] Chr6:109825158 [GRCh38]
Chr6:110146361 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2157_2158insA (p.Glu720fs) insertion not provided [RCV001268269] Chr6:109789654..109789655 [GRCh38]
Chr6:110110857..110110858 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2188dup (p.Ser730fs) duplication not provided [RCV001268246] Chr6:109791379..109791380 [GRCh38]
Chr6:110112582..110112583 [GRCh37]
Chr6:6q21		 pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21		 pathogenic
NM_014845.6(FIG4):c.2432C>G (p.Ser811Ter) single nucleotide variant Failure to thrive [RCV001257139] Chr6:109792637 [GRCh38]
Chr6:110113840 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.691A>G (p.Asn231Asp) single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV001255786] Chr6:109738369 [GRCh38]
Chr6:110059572 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1039+3G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001297936] Chr6:109743275 [GRCh38]
Chr6:110064478 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1165A>G (p.Ile389Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001342577] Chr6:109760277 [GRCh38]
Chr6:110081480 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2460-10T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001298790] Chr6:109796755 [GRCh38]
Chr6:110117958 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001315159]|not provided [RCV002473264] Chr6:109791451 [GRCh38]
Chr6:110112654 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.125A>G (p.Asp42Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001361632] Chr6:109715136 [GRCh38]
Chr6:110036339 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:109796301-113083437)x3 copy number gain See cases [RCV001353182] Chr6:109796301..113083437 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001382831]|Inborn genetic diseases [RCV002551533] Chr6:109735183 [GRCh38]
Chr6:110056386 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.2119G>A (p.Gly707Arg) single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV001330565] Chr6:109789616 [GRCh38]
Chr6:110110819 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.290-7del deletion Charcot-Marie-Tooth disease type 4 [RCV001421464] Chr6:109727101 [GRCh38]
Chr6:110048304 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.182A>G (p.Gln61Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001302843] Chr6:109716461 [GRCh38]
Chr6:110037664 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.180A>G (p.Gln60=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001360272] Chr6:109716459 [GRCh38]
Chr6:110037662 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.62G>A (p.Arg21Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001313557] Chr6:109691497 [GRCh38]
Chr6:110012700 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2215C>A (p.Arg739=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001397136] Chr6:109791410 [GRCh38]
Chr6:110112613 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1355A>G (p.Asp452Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001350810] Chr6:109762174 [GRCh38]
Chr6:110083377 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2296C>G (p.Arg766Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001364872] Chr6:109791491 [GRCh38]
Chr6:110112694 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.775+5C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001324013] Chr6:109738458 [GRCh38]
Chr6:110059661 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.521C>T (p.Ser174Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001371552] Chr6:109735173 [GRCh38]
Chr6:110056376 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001350977] Chr6:109791410 [GRCh38]
Chr6:110112613 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2469G>T (p.Gln823His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001350986]|Inborn genetic diseases [RCV002547512] Chr6:109796774 [GRCh38]
Chr6:110117977 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.843C>T (p.Gly281=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001326620] Chr6:109741511 [GRCh38]
Chr6:110062714 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.131C>T (p.Thr44Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001306782] Chr6:109715142 [GRCh38]
Chr6:110036345 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1802C>T (p.Thr601Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001371878] Chr6:109776973 [GRCh38]
Chr6:110098176 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2308G>A (p.Gly770Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001302246] Chr6:109791503 [GRCh38]
Chr6:110112706 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001370776]|Charcot-Marie-Tooth disease type 4J [RCV003336385] Chr6:109741495 [GRCh38]
Chr6:110062698 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2260G>A (p.Val754Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001315334] Chr6:109791455 [GRCh38]
Chr6:110112658 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001296835]|Inborn genetic diseases [RCV002379993] Chr6:109762195 [GRCh38]
Chr6:110083398 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.446+4T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001296897] Chr6:109727269 [GRCh38]
Chr6:110048472 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.573dup (p.Glu192fs) duplication Polymicrogyria, bilateral temporooccipital [RCV001335674] Chr6:109735224..109735225 [GRCh38]
Chr6:110056427..110056428 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1801A>G (p.Thr601Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001296244] Chr6:109776972 [GRCh38]
Chr6:110098175 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001309427]|Inborn genetic diseases [RCV002543519] Chr6:109743725 [GRCh38]
Chr6:110064928 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1038_1039del (p.Leu347fs) deletion Amyotrophic lateral sclerosis type 11 [RCV001330563] Chr6:109743271..109743272 [GRCh38]
Chr6:110064474..110064475 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2047T>G (p.Leu683Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001340835] Chr6:109786400 [GRCh38]
Chr6:110107603 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1388+8T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [