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 (+)Ensemblhg38GRCh38
GRCh376110,012,499 - 110,146,629 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366110,119,161 - 110,253,327 (+)NCBIBuild 36Build 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:




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)
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:37525222  
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 (+)Ensemblhg38GRCh38
GRCh376110,012,499 - 110,146,629 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366110,119,161 - 110,253,327 (+)NCBIBuild 36Build 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 EnsemblGRCm39
GRCm381041,188,172 - 41,303,241 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1041,188,172 - 41,303,260 (-)Ensemblmm10GRCm38
MGSCv371040,907,978 - 41,023,047 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
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 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2046,183,225 - 46,306,477 (-)EnsemblGRCr8
mRatBN7.22044,600,603 - 44,724,047 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2044,600,603 - 44,723,844 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx2046,388,086 - 46,511,436 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02046,047,227 - 46,170,581 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02046,772,600 - 46,893,206 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.02045,922,806 - 46,044,754 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2045,922,806 - 46,044,738 (-)Ensemblrn6Rnor6.0
Rnor_5.02047,625,556 - 47,747,494 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42045,123,352 - 45,248,795 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera2045,399,685 - 45,522,856 (-)NCBICelera
RGSC_v3.12045,146,775 - 45,222,780 (-)NCBI
Cytogenetic Map20q12NCBI
Fig4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554113,135,752 - 3,218,052 (-)Ensembl
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 (+)EnsemblpanPan2panpan1.1
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 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1266,329,148 - 66,452,527 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01267,393,792 - 67,518,028 (+)NCBIROS_Cfam_1.0ROS_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_1.0UU_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 (+)EnsemblSpeTri2.0 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 (+)EnsemblsusScr11Sscrofa11.1
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 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
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 1.0HetGla 1.0hetGla2

Variants

.
Variants in FIG4
974 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]|Amyotrophic lateral sclerosis type 11 [RCV005394105]|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|no classifications from unflagged records
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|no classifications from unflagged records
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]|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]|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] 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]|FIG4-related disorder [RCV004742329]|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]|FIG4-related disorder [RCV004742341]|not provided [RCV000488398]|not specified [RCV005237760] 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 Charcot-Marie-Tooth disease type 4 [RCV005090195]|not provided [RCV000235541] Chr6:109735158 [GRCh38]
Chr6:110056361 [GRCh37]
Chr6:6q21		 pathogenic|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]|FIG4-related disorder [RCV004742351]|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]|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]|FIG4-related disorder [RCV004742397] 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]|FIG4-related disorder [RCV004742398] 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|no classifications from unflagged records
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]|FIG4-related disorder [RCV004742499]|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]|FIG4-related disorder [RCV004742423]|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]|Inborn genetic diseases [RCV005338179] 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]|FIG4-related disorder [RCV004742431]|Inborn genetic diseases [RCV005338191]|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]|Inborn genetic diseases [RCV004972832]|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]|not provided [RCV004777806] 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]|not specified [RCV005000464] 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]|FIG4-related disorder [RCV004742498] 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]|FIG4-related disorder [RCV004742584]|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]|FIG4-related disorder [RCV004743269]|not specified [RCV005236567] 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		 likely benign|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]|not provided [RCV005256686] Chr6:109777051 [GRCh38]
Chr6:110098254 [GRCh37]
Chr6:6q21		 likely benign|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|conflicting interpretations of pathogenicity|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_014845.5(FIG4):c.-365A>G 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]|Inborn genetic diseases [RCV004973020]|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]|FIG4-related disorder [RCV004743278] 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]|Charcot-Marie-Tooth disease [RCV005359721] Chr6:109760259 [GRCh38]
Chr6:110081462 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic|no classifications from unflagged records
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]|not provided [RCV004793336] 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]|FIG4-related disorder [RCV004743323]|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 [RCV005359882]|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]|not provided [RCV004777929] 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]|Inborn genetic diseases [RCV004978067] 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]|FIG4-related disorder [RCV004743317]|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]|Charcot-Marie-Tooth disease type 4 [RCV005093736] 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]|not specified [RCV005236651] 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 Amyotrophic lateral sclerosis type 11 [RCV005036437]|Charcot-Marie-Tooth disease [RCV001172951]|Charcot-Marie-Tooth disease type 4 [RCV005093730] 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]|Charcot-Marie-Tooth disease type 4 [RCV005093731] 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]|not provided [RCV004792684] 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]|not provided [RCV004792666] 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]|FIG4-related disorder [RCV004743386] 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		 likely benign|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]|not provided [RCV005253814] 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]|Inborn genetic diseases [RCV005340875] 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 [RCV001319027] Chr6:109762215 [GRCh38]
Chr6:110083418 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_110146281)_(110146478_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV001316312] Chr6:110146281..110146478 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1349G>T (p.Arg450Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001359257] Chr6:109762168 [GRCh38]
Chr6:110083371 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2466T>G (p.Val822=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001492106] Chr6:109796771 [GRCh38]
Chr6:110117974 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.669G>A (p.Glu223=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001496141] Chr6:109738347 [GRCh38]
Chr6:110059550 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.915C>G (p.Leu305=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001502581] Chr6:109743148 [GRCh38]
Chr6:110064351 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-10_447-9insC insertion Charcot-Marie-Tooth disease type 4 [RCV001426314] Chr6:109732627..109732628 [GRCh38]
Chr6:110053830..110053831 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1039+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001467017] Chr6:109743280 [GRCh38]
Chr6:110064483 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2161del (p.Thr721fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001386124] Chr6:109789656 [GRCh38]
Chr6:110110859 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2470C>T (p.Leu824=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001406973] Chr6:109796775 [GRCh38]
Chr6:110117978 [GRCh37]
Chr6:6q21		 likely benign
NC_000006.11:g.(?_110087922)_(110088108_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV001389782] Chr6:110087922..110088108 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.783del (p.Ile262fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001389632] Chr6:109741451 [GRCh38]
Chr6:110062654 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2334C>T (p.Pro778=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001444115] Chr6:109791529 [GRCh38]
Chr6:110112732 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.877-8C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001415893] Chr6:109743102 [GRCh38]
Chr6:110064305 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.114C>T (p.Val38=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001441545] Chr6:109715125 [GRCh38]
Chr6:110036328 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2096+7T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001410254] Chr6:109786456 [GRCh38]
Chr6:110107659 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2052C>T (p.Ser684=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001425555] Chr6:109786405 [GRCh38]
Chr6:110107608 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.318T>C (p.Tyr106=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001440157] Chr6:109727137 [GRCh38]
Chr6:110048340 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1389-4A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001427276] Chr6:109763933 [GRCh38]
Chr6:110085136 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1527G>A (p.Leu509=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001419734] Chr6:109765105 [GRCh38]
Chr6:110086308 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.793C>A (p.Arg265=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001505883] Chr6:109741461 [GRCh38]
Chr6:110062664 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2157T>C (p.Asp719=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001454826] Chr6:109789654 [GRCh38]
Chr6:110110857 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1435-256T>C single nucleotide variant not provided [RCV001613915] Chr6:109764757 [GRCh38]
Chr6:110085960 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.447-564T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001521886] Chr6:109732073 [GRCh38]
Chr6:110053276 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2118T>G (p.Val706=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001504479] Chr6:109789615 [GRCh38]
Chr6:110110818 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2459+22A>G single nucleotide variant not provided [RCV001716056] Chr6:109792686 [GRCh38]
Chr6:110113889 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.684T>C (p.Tyr228=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001463905] Chr6:109738362 [GRCh38]
Chr6:110059565 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2546+158C>T single nucleotide variant not provided [RCV001585575] Chr6:109797009 [GRCh38]
Chr6:110118212 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.876+2T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001379797] Chr6:109741546 [GRCh38]
Chr6:110062749 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2459+6_2459+8dup duplication Charcot-Marie-Tooth disease type 4 [RCV001473301] Chr6:109792669..109792670 [GRCh38]
Chr6:110113872..110113873 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2352A>G (p.Ala784=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001481495] Chr6:109791547 [GRCh38]
Chr6:110112750 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.497+7G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001519465]|FIG4-related disorder [RCV003948544] Chr6:109732694 [GRCh38]
Chr6:110053897 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_014845.6(FIG4):c.1137+8G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001457652] Chr6:109743780 [GRCh38]
Chr6:110064983 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1889+6_1889+11dup duplication Charcot-Marie-Tooth disease type 4 [RCV001406367] Chr6:109777063..109777064 [GRCh38]
Chr6:110098266..110098267 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1584-9T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001483386] Chr6:109766720 [GRCh38]
Chr6:110087923 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1377G>T (p.Arg459=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001453576] Chr6:109762196 [GRCh38]
Chr6:110083399 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1271+7G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001454053] Chr6:109760390 [GRCh38]
Chr6:110081593 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2668C>T (p.Leu890=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001398352] Chr6:109825209 [GRCh38]
Chr6:110146412 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001386182] Chr6:109765021..109765028 [GRCh38]
Chr6:110086224..110086231 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.272C>T (p.Ser91Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001472359]|Inborn genetic diseases [RCV002439123] Chr6:109716551 [GRCh38]
Chr6:110037754 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.2388A>G (p.Gln796=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001401009]|not provided [RCV003433137] Chr6:109792593 [GRCh38]
Chr6:110113796 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1389-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002073400]|not provided [RCV001727375]|not specified [RCV003151347] Chr6:109763932 [GRCh38]
Chr6:110085135 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1389-209T>G single nucleotide variant not provided [RCV001732542] Chr6:109763728 [GRCh38]
Chr6:110084931 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2243C>G (p.Pro748Arg) single nucleotide variant not provided [RCV001767322] Chr6:109791438 [GRCh38]
Chr6:110112641 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2155G>T (p.Asp719Tyr) single nucleotide variant Inborn genetic diseases [RCV002421256]|not provided [RCV001767330] Chr6:109789652 [GRCh38]
Chr6:110110855 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.57G>A (p.Glu19=) single nucleotide variant not provided [RCV001772461] Chr6:109691492 [GRCh38]
Chr6:110012695 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2376+2T>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV001809193]|Yunis-Varon syndrome [RCV003147683] Chr6:109791573 [GRCh38]
Chr6:110112776 [GRCh37]
Chr6:6q21		 likely pathogenic|no classifications from unflagged records
NM_014845.6(FIG4):c.1388+1G>T single nucleotide variant not provided [RCV001783292] Chr6:109762208 [GRCh38]
Chr6:110083411 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1137+3A>G single nucleotide variant not provided [RCV001757879] Chr6:109743775 [GRCh38]
Chr6:110064978 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001928928] Chr6:109763980 [GRCh38]
Chr6:110085183 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2052C>A (p.Ser684Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001987925] Chr6:109786405 [GRCh38]
Chr6:110107608 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002009298] Chr6:109791435 [GRCh38]
Chr6:110112638 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2653G>A (p.Gly885Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001874392] Chr6:109825194 [GRCh38]
Chr6:110146397 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1312G>A (p.Glu438Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002009108] Chr6:109762131 [GRCh38]
Chr6:110083334 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002043320]|Inborn genetic diseases [RCV003355772]|not provided [RCV002261443] Chr6:109789649 [GRCh38]
Chr6:110110852 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001864210]|FIG4-related disorder [RCV004743600]|Inborn genetic diseases [RCV002397794] Chr6:109765133 [GRCh38]
Chr6:110086336 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002008813] Chr6:109735179 [GRCh38]
Chr6:110056382 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001987823] Chr6:109776933 [GRCh38]
Chr6:110098136 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.112G>A (p.Val38Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002024487]|Inborn genetic diseases [RCV002324501] Chr6:109715123 [GRCh38]
Chr6:110036326 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1012A>T (p.Thr338Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002008143] Chr6:109743245 [GRCh38]
Chr6:110064448 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:109920345-110080533)x1 copy number loss not provided [RCV001834213] Chr6:109920345..110080533 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001970508] Chr6:109789674 [GRCh38]
Chr6:110110877 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2376+5G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001988776] Chr6:109791576 [GRCh38]
Chr6:110112779 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu) single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV003225754]|Charcot-Marie-Tooth disease type 4 [RCV001889827] Chr6:109789646 [GRCh38]
Chr6:110110849 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2669T>G (p.Leu890Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001926953] Chr6:109825210 [GRCh38]
Chr6:110146413 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2645C>A (p.Ala882Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001986137] Chr6:109825186 [GRCh38]
Chr6:110146389 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.641G>A (p.Gly214Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002043037] Chr6:109735293 [GRCh38]
Chr6:110056496 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2559_2560delinsAT (p.Ala854Ser) indel Charcot-Marie-Tooth disease type 4 [RCV002043193] Chr6:109825100..109825101 [GRCh38]
Chr6:110146303..110146304 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q21(chr6:109564793-112223595) copy number loss not specified [RCV002053608] Chr6:109564793..112223595 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp) single nucleotide variant Amyotrophic lateral sclerosis [RCV001843919]|Charcot-Marie-Tooth disease type 4 [RCV001885392]|Inborn genetic diseases [RCV002329772] Chr6:109727240 [GRCh38]
Chr6:110048443 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1823G>T (p.Trp608Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001986895] Chr6:109776994 [GRCh38]
Chr6:110098197 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.57G>C (p.Glu19Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001965851] Chr6:109691492 [GRCh38]
Chr6:110012695 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1112C>G (p.Pro371Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001892680] Chr6:109743747 [GRCh38]
Chr6:110064950 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.528A>G (p.Gln176=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001911833] Chr6:109735180 [GRCh38]
Chr6:110056383 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001909779]|Inborn genetic diseases [RCV002425227]|not provided [RCV002473323] Chr6:109825201 [GRCh38]
Chr6:110146404 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1225C>A (p.His409Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001913372] Chr6:109760337 [GRCh38]
Chr6:110081540 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001911008]|not provided [RCV003146311] Chr6:109792654 [GRCh38]
Chr6:110113857 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001945996] Chr6:109762146 [GRCh38]
Chr6:110083349 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.136C>T (p.Pro46Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001969761] Chr6:109715147 [GRCh38]
Chr6:110036350 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1538del (p.Gly513fs) deletion Charcot-Marie-Tooth disease type 4 [RCV001892776] Chr6:109765114 [GRCh38]
Chr6:110086317 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.976G>A (p.Gly326Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001909267] Chr6:109743209 [GRCh38]
Chr6:110064412 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001912734]|not provided [RCV003326592] Chr6:109741444 [GRCh38]
Chr6:110062647 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) copy number loss not specified [RCV002053598] Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2		 pathogenic
NM_014845.6(FIG4):c.38A>G (p.Gln13Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001871508] Chr6:109691473 [GRCh38]
Chr6:110012676 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002021410]|Inborn genetic diseases [RCV002548887] Chr6:109741462 [GRCh38]
Chr6:110062665 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1388+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002022313] Chr6:109762208 [GRCh38]
Chr6:110083411 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001944755] Chr6:109762093 [GRCh38]
Chr6:110083296 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.397A>G (p.Ile133Val) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV002272561]|Charcot-Marie-Tooth disease type 4 [RCV002048527] Chr6:109727216 [GRCh38]
Chr6:110048419 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001963081] Chr6:109743731 [GRCh38]
Chr6:110064934 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001989292] Chr6:109760382 [GRCh38]
Chr6:110081585 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.685G>A (p.Val229Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001938075] Chr6:109738363 [GRCh38]
Chr6:110059566 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1949-10T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001998992] Chr6:109786292 [GRCh38]
Chr6:110107495 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NC_000006.11:g.(?_110048292)_(110053276_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV001951455] Chr6:110048292..110053276 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001888003] Chr6:109766833 [GRCh38]
Chr6:110088036 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001977921]|Inborn genetic diseases [RCV002573443] Chr6:109777009 [GRCh38]
Chr6:110098212 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001951811] Chr6:109766857 [GRCh38]
Chr6:110088060 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1349G>A (p.Arg450His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002016271]|Inborn genetic diseases [RCV002548125] Chr6:109762168 [GRCh38]
Chr6:110083371 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1990T>C (p.Phe664Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001937052] Chr6:109786343 [GRCh38]
Chr6:110107546 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001923177]|not provided [RCV003434353] Chr6:109825140 [GRCh38]
Chr6:110146343 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002013468] Chr6:109741497 [GRCh38]
Chr6:110062700 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.923C>T (p.Ala308Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001935897]|Inborn genetic diseases [RCV002370521] Chr6:109743156 [GRCh38]
Chr6:110064359 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1769C>T (p.Ser590Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001876940] Chr6:109776940 [GRCh38]
Chr6:110098143 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2460-2A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001973598] Chr6:109796763 [GRCh38]
Chr6:110117966 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1225C>T (p.His409Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001937390] Chr6:109760337 [GRCh38]
Chr6:110081540 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1890-14T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001904144] Chr6:109784956 [GRCh38]
Chr6:110106159 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1765G>C (p.Asp589His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001990670] Chr6:109776936 [GRCh38]
Chr6:110098139 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.29G>A (p.Ser10Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001920340] Chr6:109691464 [GRCh38]
Chr6:110012667 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.413A>G (p.Asp138Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001884349] Chr6:109727232 [GRCh38]
Chr6:110048435 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001979505] Chr6:109777058 [GRCh38]
Chr6:110098261 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.396G>A (p.Met132Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001952175]|Inborn genetic diseases [RCV004616875]|not provided [RCV003481189] Chr6:109727215 [GRCh38]
Chr6:110048418 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001973308]|Inborn genetic diseases [RCV002425348] Chr6:109825203 [GRCh38]
Chr6:110146406 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001960579] Chr6:109791497 [GRCh38]
Chr6:110112700 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs) microsatellite Charcot-Marie-Tooth disease type 4 [RCV001953681] Chr6:109763956..109763957 [GRCh38]
Chr6:110085159..110085160 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001917352] Chr6:109765068 [GRCh38]
Chr6:110086271 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002028971]|FIG4-related disorder [RCV003418324] Chr6:109715118 [GRCh38]
Chr6:110036321 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2460-12T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001974808] Chr6:109796753 [GRCh38]
Chr6:110117956 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001879584] Chr6:109763972 [GRCh38]
Chr6:110085175 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.447-19T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002013844] Chr6:109732618 [GRCh38]
Chr6:110053821 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001933260]|Charcot-Marie-Tooth disease type 4J [RCV003447326] Chr6:109825246 [GRCh38]
Chr6:110146449 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.731G>A (p.Arg244His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001952678] Chr6:109738409 [GRCh38]
Chr6:110059612 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.157G>A (p.Asp53Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001933485] Chr6:109715168 [GRCh38]
Chr6:110036371 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2582A>G (p.Tyr861Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001904597] Chr6:109825123 [GRCh38]
Chr6:110146326 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_110012639)_(110064995_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV001959189] Chr6:110012639..110064995 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001924766] Chr6:109791518 [GRCh38]
Chr6:110112721 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1163G>T (p.Arg388Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001905310] Chr6:109760275 [GRCh38]
Chr6:110081478 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001924653] Chr6:109715078 [GRCh38]
Chr6:110036281 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_110048292)_(110098283_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV001958720] Chr6:110048292..110098283 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2180+3A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001904828] Chr6:109789680 [GRCh38]
Chr6:110110883 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2714G>A (p.Arg905His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001885799] Chr6:109825255 [GRCh38]
Chr6:110146458 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1015A>G (p.Met339Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001998941] Chr6:109743248 [GRCh38]
Chr6:110064451 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2324G>A (p.Arg775His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001886031] Chr6:109791519 [GRCh38]
Chr6:110112722 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.760T>C (p.Phe254Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002018987] Chr6:109738438 [GRCh38]
Chr6:110059641 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1952T>C (p.Ile651Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001999332] Chr6:109786305 [GRCh38]
Chr6:110107508 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001878220] Chr6:109732675 [GRCh38]
Chr6:110053878 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001994447] Chr6:109786419 [GRCh38]
Chr6:110107622 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2551C>T (p.Pro851Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001922498] Chr6:109825092 [GRCh38]
Chr6:110146295 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001867110] Chr6:109791399 [GRCh38]
Chr6:110112602 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del) deletion Charcot-Marie-Tooth disease type 4 [RCV001972035] Chr6:109691427..109691444 [GRCh38]
Chr6:110012630..110012647 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2547-12C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002048889] Chr6:109825076 [GRCh38]
Chr6:110146279 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.19C>T (p.Pro7Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001917900] Chr6:109691454 [GRCh38]
Chr6:110012657 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001917268]|Inborn genetic diseases [RCV002388753] Chr6:109738442 [GRCh38]
Chr6:110059645 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2085A>C (p.Thr695=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001920027] Chr6:109786438 [GRCh38]
Chr6:110107641 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1584-19C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002076387] Chr6:109766710 [GRCh38]
Chr6:110087913 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1271+9T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002205956] Chr6:109760392 [GRCh38]
Chr6:110081595 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.15C>T (p.Ala5=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002189216] Chr6:109691450 [GRCh38]
Chr6:110012653 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.446+16A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002128868] Chr6:109727281 [GRCh38]
Chr6:110048484 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.446+21dup duplication Charcot-Marie-Tooth disease type 4 [RCV002210266] Chr6:109727284..109727285 [GRCh38]
Chr6:110048487..110048488 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2460-14A>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002111248] Chr6:109796751 [GRCh38]
Chr6:110117954 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1949-7C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002112310] Chr6:109786295 [GRCh38]
Chr6:110107498 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1734C>T (p.Tyr578=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002073641] Chr6:109766879 [GRCh38]
Chr6:110088082 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2096+10G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002105240] Chr6:109786459 [GRCh38]
Chr6:110107662 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1040-17T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002147568] Chr6:109743658 [GRCh38]
Chr6:110064861 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-3del deletion Charcot-Marie-Tooth disease type 4 [RCV002145157] Chr6:109732622 [GRCh38]
Chr6:110053825 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.1137+14A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002131786] Chr6:109743786 [GRCh38]
Chr6:110064989 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.852T>C (p.Phe284=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002216171] Chr6:109741520 [GRCh38]
Chr6:110062723 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1434+7A>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002094453] Chr6:109763989 [GRCh38]
Chr6:110085192 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1890-4A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002170944] Chr6:109784966 [GRCh38]
Chr6:110106169 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2244C>G (p.Pro748=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002171929] Chr6:109791439 [GRCh38]
Chr6:110112642 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.400T>C (p.Tyr134His) single nucleotide variant Charcot-Marie-Tooth disease type 4J [RCV002225206] Chr6:109727219 [GRCh38]
Chr6:110048422 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.66+14C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002167939] Chr6:109691515 [GRCh38]
Chr6:110012718 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2262G>C (p.Val754=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002212927] Chr6:109791457 [GRCh38]
Chr6:110112660 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.324G>C (p.Val108=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002170883] Chr6:109727143 [GRCh38]
Chr6:110048346 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.166-11C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002211951] Chr6:109716434 [GRCh38]
Chr6:110037637 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1890-18T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002108571] Chr6:109784952 [GRCh38]
Chr6:110106155 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2377-12T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002152217] Chr6:109792570 [GRCh38]
Chr6:110113773 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.497+14T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002174069]|not specified [RCV003331324] Chr6:109732701 [GRCh38]
Chr6:110053904 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1116C>T (p.Ile372=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002094454] Chr6:109743751 [GRCh38]
Chr6:110064954 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.813A>G (p.Leu271=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002150237] Chr6:109741481 [GRCh38]
Chr6:110062684 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2096+9T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002194608] Chr6:109786458 [GRCh38]
Chr6:110107661 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.165+8T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002078045] Chr6:109715184 [GRCh38]
Chr6:110036387 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1827G>A (p.Glu609=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002149644]|FIG4-related disorder [RCV003913755] Chr6:109776998 [GRCh38]
Chr6:110098201 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2376+16G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002152902] Chr6:109791587 [GRCh38]
Chr6:110112790 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2376+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002085627] Chr6:109791579 [GRCh38]
Chr6:110112782 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2460-14A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002131955] Chr6:109796751 [GRCh38]
Chr6:110117954 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.498-15C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002187575] Chr6:109735135 [GRCh38]
Chr6:110056338 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.497+10A>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002193807] Chr6:109732697 [GRCh38]
Chr6:110053900 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1890-17T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002106330]|not provided [RCV004707776] Chr6:109784953 [GRCh38]
Chr6:110106156 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-16_447-13del deletion Charcot-Marie-Tooth disease type 4 [RCV002131458] Chr6:109732618..109732621 [GRCh38]
Chr6:110053821..110053824 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.909A>G (p.Gln303=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002215645] Chr6:109743142 [GRCh38]
Chr6:110064345 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.165+17C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002157340] Chr6:109715193 [GRCh38]
Chr6:110036396 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.423G>A (p.Arg141=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002203751] Chr6:109727242 [GRCh38]
Chr6:110048445 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1583+20A>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002099157] Chr6:109765181 [GRCh38]
Chr6:110086384 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.166-7T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002204874] Chr6:109716438 [GRCh38]
Chr6:110037641 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2546+11G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002118288] Chr6:109796862 [GRCh38]
Chr6:110118065 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.646+7G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002163951] Chr6:109735305 [GRCh38]
Chr6:110056508 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2096+16T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002118719] Chr6:109786465 [GRCh38]
Chr6:110107668 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1890-16A>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002164418] Chr6:109784954 [GRCh38]
Chr6:110106157 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-14_447-13insG insertion Charcot-Marie-Tooth disease type 4 [RCV002159027] Chr6:109732623..109732624 [GRCh38]
Chr6:110053826..110053827 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+13C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002144560] Chr6:109716581 [GRCh38]
Chr6:110037784 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+17C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002103868] Chr6:109716585 [GRCh38]
Chr6:110037788 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1434+16C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002141254] Chr6:109763998 [GRCh38]
Chr6:110085201 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.618T>C (p.Asp206=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002198702] Chr6:109735270 [GRCh38]
Chr6:110056473 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.477A>G (p.Leu159=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002102684] Chr6:109732667 [GRCh38]
Chr6:110053870 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.497+9G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002157126]|FIG4-related disorder [RCV003978505] Chr6:109732696 [GRCh38]
Chr6:110053899 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1479C>G (p.Thr493=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002158155]|Inborn genetic diseases [RCV002391279] Chr6:109765057 [GRCh38]
Chr6:110086260 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1584-16G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002197888] Chr6:109766713 [GRCh38]
Chr6:110087916 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1583+20A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002135714] Chr6:109765181 [GRCh38]
Chr6:110086384 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1583+16dup duplication Charcot-Marie-Tooth disease type 4 [RCV002117900] Chr6:109765171..109765172 [GRCh38]
Chr6:110086374..110086375 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.132A>G (p.Thr44=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002200023] Chr6:109715143 [GRCh38]
Chr6:110036346 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1949-12T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002142077] Chr6:109786290 [GRCh38]
Chr6:110107493 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2459+14A>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002101704]|not specified [RCV005406356] Chr6:109792678 [GRCh38]
Chr6:110113881 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2205T>C (p.Ala735=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003113051] Chr6:109791400 [GRCh38]
Chr6:110112603 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-16_447-14del deletion Charcot-Marie-Tooth disease type 4 [RCV003116149] Chr6:109732619..109732621 [GRCh38]
Chr6:110053822..110053824 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003115579] Chr6:109741471 [GRCh38]
Chr6:110062674 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_107019871)_(110266416_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV003116781]|not provided [RCV003116782] Chr6:107019871..110266416 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000006.11:g.(?_110106153)_(110113887_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV003116783] Chr6:110106153..110113887 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_109690054)_(110266416_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV003116784] Chr6:109690054..110266416 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_110117948)_(110118074_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV003116785] Chr6:110117948..110118074 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_109765394)_(110064995_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV003116786] Chr6:109765394..110064995 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_110012639)_(110098283_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV003116787] Chr6:110012639..110098283 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_110081433)_(110088118_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV003116788] Chr6:110081433..110088118 [GRCh37]
Chr6:6q21		 likely pathogenic
NC_000006.11:g.(?_110106153)_(110146468_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV003116789] Chr6:110106153..110146468 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1584-14T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003118642] Chr6:109766715 [GRCh38]
Chr6:110087918 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.741T>C (p.Leu247=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003118776] Chr6:109738419 [GRCh38]
Chr6:110059622 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1410T>C (p.Cys470=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003121490] Chr6:109763958 [GRCh38]
Chr6:110085161 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.756T>G (p.His252Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003121149] Chr6:109738434 [GRCh38]
Chr6:110059637 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.394A>G (p.Met132Val) single nucleotide variant Charcot-Marie-Tooth disease type 4J [RCV003148544] Chr6:109727213 [GRCh38]
Chr6:110048416 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003094122]|Inborn genetic diseases [RCV002352960]|See cases [RCV002253102]|not provided [RCV005232923] Chr6:109727201 [GRCh38]
Chr6:110048404 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.647-2_647-1insG duplication Amyotrophic lateral sclerosis type 11 [RCV002290316] Chr6:109738323..109738324 [GRCh38]
Chr6:110059526..110059527 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.837dup (p.Ala280fs) duplication not provided [RCV002293153] Chr6:109741502..109741503 [GRCh38]
Chr6:110062705..110062706 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.670C>T (p.Pro224Ser) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV002290118] Chr6:109738348 [GRCh38]
Chr6:110059551 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.446+2T>C single nucleotide variant Charcot-Marie-Tooth disease type 4J [RCV002290416] Chr6:109727267 [GRCh38]
Chr6:110048470 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2509C>T (p.Gln837Ter) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV002289314] Chr6:109796814 [GRCh38]
Chr6:110118017 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003097384]|Inborn genetic diseases [RCV002421595] Chr6:109786307 [GRCh38]
Chr6:110107510 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1330A>T (p.Thr444Ser) single nucleotide variant Inborn genetic diseases [RCV002387481] Chr6:109762149 [GRCh38]
Chr6:110083352 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1327A>G (p.Lys443Glu) single nucleotide variant Inborn genetic diseases [RCV002385812] Chr6:109762146 [GRCh38]
Chr6:110083349 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.35T>C (p.Val12Ala) single nucleotide variant Inborn genetic diseases [RCV002455195] Chr6:109691470 [GRCh38]
Chr6:110012673 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002295424]|Inborn genetic diseases [RCV002443297] Chr6:109792650 [GRCh38]
Chr6:110113853 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.545T>C (p.Leu182Ser) single nucleotide variant Inborn genetic diseases [RCV002349714] Chr6:109735197 [GRCh38]
Chr6:110056400 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.676A>G (p.Met226Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003098370]|Inborn genetic diseases [RCV002369298] Chr6:109738354 [GRCh38]
Chr6:110059557 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.365A>G (p.His122Arg) single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV003458138]|Inborn genetic diseases [RCV002452528] Chr6:109727184 [GRCh38]
Chr6:110048387 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.289+2T>C single nucleotide variant Inborn genetic diseases [RCV002437922] Chr6:109716570 [GRCh38]
Chr6:110037773 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1610A>C (p.His537Pro) single nucleotide variant not provided [RCV002474423] Chr6:109766755 [GRCh38]
Chr6:110087958 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:110096791-110491262)x3 copy number gain not provided [RCV002473782] Chr6:110096791..110491262 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1097A>G (p.Gln366Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002295409] Chr6:109743732 [GRCh38]
Chr6:110064935 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2376+4C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003101772]|Inborn genetic diseases [RCV002457818] Chr6:109791575 [GRCh38]
Chr6:110112778 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003094910]|Inborn genetic diseases [RCV002383033] Chr6:109743231 [GRCh38]
Chr6:110064434 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.348G>T (p.Met116Ile) single nucleotide variant Inborn genetic diseases [RCV002459012] Chr6:109727167 [GRCh38]
Chr6:110048370 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2704A>C (p.Ile902Leu) single nucleotide variant Inborn genetic diseases [RCV002429026] Chr6:109825245 [GRCh38]
Chr6:110146448 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1420A>G (p.Thr474Ala) single nucleotide variant Inborn genetic diseases [RCV002391806] Chr6:109763968 [GRCh38]
Chr6:110085171 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1575T>A (p.Asp525Glu) single nucleotide variant Inborn genetic diseases [RCV002405711] Chr6:109765153 [GRCh38]
Chr6:110086356 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2325C>T (p.Arg775=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003101743]|Inborn genetic diseases [RCV002457598] Chr6:109791520 [GRCh38]
Chr6:110112723 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.502A>C (p.Ser168Arg) single nucleotide variant Inborn genetic diseases [RCV002335605] Chr6:109735154 [GRCh38]
Chr6:110056357 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1902G>T (p.Trp634Cys) single nucleotide variant Inborn genetic diseases [RCV002408288] Chr6:109784982 [GRCh38]
Chr6:110106185 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1815T>G (p.Pro605=) single nucleotide variant Inborn genetic diseases [RCV002410261] Chr6:109776986 [GRCh38]
Chr6:110098189 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2234C>G (p.Ala745Gly) single nucleotide variant Inborn genetic diseases [RCV002428283] Chr6:109791429 [GRCh38]
Chr6:110112632 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2095C>G (p.Arg699Gly) single nucleotide variant Inborn genetic diseases [RCV002424096] Chr6:109786448 [GRCh38]
Chr6:110107651 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1168C>G (p.Leu390Val) single nucleotide variant Inborn genetic diseases [RCV002327907] Chr6:109760280 [GRCh38]
Chr6:110081483 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2623A>T (p.Ile875Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002295691]|not provided [RCV004697207] Chr6:109825164 [GRCh38]
Chr6:110146367 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003098064]|Inborn genetic diseases [RCV002355853]|not provided [RCV004793784] Chr6:109735244 [GRCh38]
Chr6:110056447 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.1775A>G (p.Asn592Ser) single nucleotide variant Inborn genetic diseases [RCV002401875] Chr6:109776946 [GRCh38]
Chr6:110098149 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002297827] Chr6:109760344 [GRCh38]
Chr6:110081547 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1583+6T>G single nucleotide variant Inborn genetic diseases [RCV002392662] Chr6:109765167 [GRCh38]
Chr6:110086370 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1389-1G>C single nucleotide variant Inborn genetic diseases [RCV002396600] Chr6:109763936 [GRCh38]
Chr6:110085139 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2144T>G (p.Val715Gly) single nucleotide variant Inborn genetic diseases [RCV002430602] Chr6:109789641 [GRCh38]
Chr6:110110844 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.363T>A (p.Gly121=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002862217] Chr6:109727182 [GRCh38]
Chr6:110048385 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1686A>G (p.Pro562=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002614911] Chr6:109766831 [GRCh38]
Chr6:110088034 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:109925791-110080533)x1 copy number loss not provided [RCV002475877] Chr6:109925791..110080533 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.876+7_876+13dup duplication Charcot-Marie-Tooth disease type 4 [RCV002971976] Chr6:109741549..109741550 [GRCh38]
Chr6:110062752..110062753 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.206G>A (p.Arg69His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002971379]|Inborn genetic diseases [RCV004068251] Chr6:109716485 [GRCh38]
Chr6:110037688 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1890-5T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002862893] Chr6:109784965 [GRCh38]
Chr6:110106168 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-565_447-564inv inversion Charcot-Marie-Tooth disease type 4 [RCV002880507] Chr6:109732072..109732073 [GRCh38]
Chr6:110053275..110053276 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1949-10TC[2] microsatellite Charcot-Marie-Tooth disease type 4 [RCV002882299] Chr6:109786292..109786293 [GRCh38]
Chr6:110107495..110107496 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1995C>G (p.His665Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002882155]|not provided [RCV003156393] Chr6:109786348 [GRCh38]
Chr6:110107551 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1758T>C (p.Asp586=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002734827] Chr6:109776929 [GRCh38]
Chr6:110098132 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1948+3A>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002618264] Chr6:109785031 [GRCh38]
Chr6:110106234 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.604G>A (p.Asp202Asn) single nucleotide variant Inborn genetic diseases [RCV002777714] Chr6:109735256 [GRCh38]
Chr6:110056459 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2672G>A (p.Gly891Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003017462] Chr6:109825213 [GRCh38]
Chr6:110146416 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002794989] Chr6:109792648 [GRCh38]
Chr6:110113851 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1101G>T (p.Arg367Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002815336] Chr6:109743736 [GRCh38]
Chr6:110064939 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2376+4C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002862420] Chr6:109791575 [GRCh38]
Chr6:110112778 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.475C>G (p.Leu159Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002838761] Chr6:109732665 [GRCh38]
Chr6:110053868 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.498-14A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003075008] Chr6:109735136 [GRCh38]
Chr6:110056339 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.263G>T (p.Arg88Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002907846] Chr6:109716542 [GRCh38]
Chr6:110037745 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2706C>T (p.Ile902=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002815206] Chr6:109825247 [GRCh38]
Chr6:110146450 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:110098753-110491262)x3 copy number gain not provided [RCV002475555] Chr6:110098753..110491262 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2180+1del deletion Charcot-Marie-Tooth disease type 4 [RCV003015697] Chr6:109789675 [GRCh38]
Chr6:110110878 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002974946] Chr6:109791396 [GRCh38]
Chr6:110112599 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1948+13_1948+16del deletion Charcot-Marie-Tooth disease type 4 [RCV002785910] Chr6:109785038..109785041 [GRCh38]
Chr6:110106241..110106244 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002953111]|FIG4-related disorder [RCV003403974] Chr6:109735158 [GRCh38]
Chr6:110056361 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.18C>G (p.Ala6=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003021585] Chr6:109691453 [GRCh38]
Chr6:110012656 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-16del deletion Charcot-Marie-Tooth disease type 4 [RCV002909871] Chr6:109732621 [GRCh38]
Chr6:110053824 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+18del deletion Charcot-Marie-Tooth disease type 4 [RCV003078574] Chr6:109716581 [GRCh38]
Chr6:110037784 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.447-18_447-17dup duplication Charcot-Marie-Tooth disease type 4 [RCV003078031] Chr6:109732617..109732618 [GRCh38]
Chr6:110053820..110053821 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-15T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002569696] Chr6:109732622 [GRCh38]
Chr6:110053825 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2607C>G (p.Asp869Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003078897] Chr6:109825148 [GRCh38]
Chr6:110146351 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2096+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002999103] Chr6:109786457 [GRCh38]
Chr6:110107660 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.165+2T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002780336]|FIG4-related disorder [RCV004744441]|Inborn genetic diseases [RCV004067957] Chr6:109715178 [GRCh38]
Chr6:110036381 [GRCh37]
Chr6:6q21		 likely pathogenic|uncertain significance
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs) duplication Bilateral parasagittal parieto-occipital polymicrogyria [RCV005254121]|Charcot-Marie-Tooth disease type 4 [RCV002658240]|Inborn genetic diseases [RCV002639181] Chr6:109776978..109776979 [GRCh38]
Chr6:110098181..110098182 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1799C>T (p.Pro600Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003020283] Chr6:109776970 [GRCh38]
Chr6:110098173 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1565T>G (p.Phe522Cys) single nucleotide variant Inborn genetic diseases [RCV002868109] Chr6:109765143 [GRCh38]
Chr6:110086346 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1117A>G (p.Ile373Val) single nucleotide variant Inborn genetic diseases [RCV002844461] Chr6:109743752 [GRCh38]
Chr6:110064955 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1138-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003035440] Chr6:109760249 [GRCh38]
Chr6:110081452 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2643G>A (p.Gln881=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002952468] Chr6:109825184 [GRCh38]
Chr6:110146387 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1260G>A (p.Lys420=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002761607] Chr6:109760372 [GRCh38]
Chr6:110081575 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002591815] Chr6:109765135 [GRCh38]
Chr6:110086338 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2459+12T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002695653] Chr6:109792676 [GRCh38]
Chr6:110113879 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1271+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002870922] Chr6:109760384 [GRCh38]
Chr6:110081587 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1209A>G (p.Gln403=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002619647] Chr6:109760321 [GRCh38]
Chr6:110081524 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1948+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002662335]|not provided [RCV005233001] Chr6:109785029 [GRCh38]
Chr6:110106232 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002570888]|not provided [RCV004763432] Chr6:109743168 [GRCh38]
Chr6:110064371 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.326TAA[1] (p.Ile110del) microsatellite Charcot-Marie-Tooth disease type 4 [RCV002953198] Chr6:109727145..109727147 [GRCh38]
Chr6:110048348..110048350 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1584-18G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002885901] Chr6:109766711 [GRCh38]
Chr6:110087914 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+16C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003019404] Chr6:109716584 [GRCh38]
Chr6:110037787 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.533A>C (p.Asn178Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003021347] Chr6:109735185 [GRCh38]
Chr6:110056388 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003018273] Chr6:109785011 [GRCh38]
Chr6:110106214 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.915C>T (p.Leu305=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002761688] Chr6:109743148 [GRCh38]
Chr6:110064351 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.1297C>T (p.Leu433=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003036462] Chr6:109762116 [GRCh38]
Chr6:110083319 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002913420] Chr6:109786433 [GRCh38]
Chr6:110107636 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2297G>A (p.Arg766Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003002621] Chr6:109791492 [GRCh38]
Chr6:110112695 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.446+18T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002638338] Chr6:109727283 [GRCh38]
Chr6:110048486 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1557T>C (p.Asn519=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003077956] Chr6:109765135 [GRCh38]
Chr6:110086338 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.453A>G (p.Leu151=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003043705] Chr6:109732643 [GRCh38]
Chr6:110053846 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1428C>G (p.Arg476=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002875673] Chr6:109763976 [GRCh38]
Chr6:110085179 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2546+10A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003024971] Chr6:109796861 [GRCh38]
Chr6:110118064 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+18dup duplication Charcot-Marie-Tooth disease type 4 [RCV002710954] Chr6:109716580..109716581 [GRCh38]
Chr6:110037783..110037784 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.66+20G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002932408] Chr6:109691521 [GRCh38]
Chr6:110012724 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.725T>C (p.Val242Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003085637] Chr6:109738403 [GRCh38]
Chr6:110059606 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003056411] Chr6:109732653 [GRCh38]
Chr6:110053856 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.66+11C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002624174] Chr6:109691512 [GRCh38]
Chr6:110012715 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003082615]|FIG4-related disorder [RCV003420338] Chr6:109765082 [GRCh38]
Chr6:110086285 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002766252]|not provided [RCV003542373] Chr6:109691442 [GRCh38]
Chr6:110012645 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1521T>C (p.Tyr507=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002982753] Chr6:109765099 [GRCh38]
Chr6:110086302 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-16_447-15insCT insertion Charcot-Marie-Tooth disease type 4 [RCV002593868] Chr6:109732621..109732622 [GRCh38]
Chr6:110053824..110053825 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2031C>G (p.Phe677Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002741454] Chr6:109786384 [GRCh38]
Chr6:110107587 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2082G>T (p.Met694Ile) single nucleotide variant Inborn genetic diseases [RCV002891339] Chr6:109786435 [GRCh38]
Chr6:110107638 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003041008] Chr6:109792583 [GRCh38]
Chr6:110113786 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002928246] Chr6:109766824 [GRCh38]
Chr6:110088027 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1039+6T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003084045] Chr6:109743278 [GRCh38]
Chr6:110064481 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2181-18A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003056058] Chr6:109791358 [GRCh38]
Chr6:110112561 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1551A>G (p.Lys517=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003081818] Chr6:109765129 [GRCh38]
Chr6:110086332 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.962A>G (p.Tyr321Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002596492] Chr6:109743195 [GRCh38]
Chr6:110064398 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1981G>T (p.Val661Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003057975] Chr6:109786334 [GRCh38]
Chr6:110107537 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003083264] Chr6:109765013 [GRCh38]
Chr6:110086216 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1434+18A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003084137] Chr6:109764000 [GRCh38]
Chr6:110085203 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.177T>G (p.Thr59=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002711385] Chr6:109716456 [GRCh38]
Chr6:110037659 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1224G>T (p.Glu408Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003065616] Chr6:109760336 [GRCh38]
Chr6:110081539 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002582062] Chr6:109784993 [GRCh38]
Chr6:110106196 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.67-15C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002676471] Chr6:109715063 [GRCh38]
Chr6:110036266 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2223G>A (p.Thr741=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002922625] Chr6:109791418 [GRCh38]
Chr6:110112621 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.299G>T (p.Arg100Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002629333] Chr6:109727118 [GRCh38]
Chr6:110048321 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1584-10del deletion Charcot-Marie-Tooth disease type 4 [RCV003061325] Chr6:109766719 [GRCh38]
Chr6:110087922 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.892G>C (p.Glu298Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002632999] Chr6:109743125 [GRCh38]
Chr6:110064328 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.381C>T (p.Val127=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002675772] Chr6:109727200 [GRCh38]
Chr6:110048403 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1272-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002675788] Chr6:109762088 [GRCh38]
Chr6:110083291 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.451C>T (p.Leu151=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003031012] Chr6:109732641 [GRCh38]
Chr6:110053844 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1012A>G (p.Thr338Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002962378]|Inborn genetic diseases [RCV005343550] Chr6:109743245 [GRCh38]
Chr6:110064448 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1316G>A (p.Ser439Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002581914] Chr6:109762135 [GRCh38]
Chr6:110083338 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003026785] Chr6:109825221 [GRCh38]
Chr6:110146424 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.21del (p.Ile8fs) deletion Charcot-Marie-Tooth disease type 4 [RCV002597987] Chr6:109691452 [GRCh38]
Chr6:110012655 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1278G>A (p.Leu426=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003009097] Chr6:109762097 [GRCh38]
Chr6:110083300 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.67-8A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003028424] Chr6:109715070 [GRCh38]
Chr6:110036273 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1388+10G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002877048]|FIG4-related disorder [RCV004744463] Chr6:109762217 [GRCh38]
Chr6:110083420 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2377-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005059304]|Inborn genetic diseases [RCV002831670] Chr6:109792577 [GRCh38]
Chr6:110113780 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_014845.6(FIG4):c.67-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003063288] Chr6:109715077 [GRCh38]
Chr6:110036280 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1708A>G (p.Ile570Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002806390] Chr6:109766853 [GRCh38]
Chr6:110088056 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2014G>T (p.Asp672Tyr) single nucleotide variant Inborn genetic diseases [RCV002832049] Chr6:109786367 [GRCh38]
Chr6:110107570 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1584-3T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003027327] Chr6:109766726 [GRCh38]
Chr6:110087929 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.553C>A (p.Pro185Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003027879] Chr6:109735205 [GRCh38]
Chr6:110056408 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.447-5_447-3dup duplication Charcot-Marie-Tooth disease type 4 [RCV002938679] Chr6:109732621..109732622 [GRCh38]
Chr6:110053824..110053825 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.61A>G (p.Arg21Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002938132] Chr6:109691496 [GRCh38]
Chr6:110012699 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002720355]|Inborn genetic diseases [RCV003269248] Chr6:109791437 [GRCh38]
Chr6:110112640 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.138A>C (p.Pro46=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002770448] Chr6:109715149 [GRCh38]
Chr6:110036352 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2209T>C (p.Leu737=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003026658] Chr6:109791404 [GRCh38]
Chr6:110112607 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.911T>C (p.Ile304Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002717034] Chr6:109743144 [GRCh38]
Chr6:110064347 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1066G>A (p.Val356Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002670760] Chr6:109743701 [GRCh38]
Chr6:110064904 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1571C>T (p.Thr524Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002810071] Chr6:109765149 [GRCh38]
Chr6:110086352 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.557del (p.Leu186fs) deletion Charcot-Marie-Tooth disease type 4 [RCV002807100] Chr6:109735209 [GRCh38]
Chr6:110056412 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1948+10T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002877074] Chr6:109785038 [GRCh38]
Chr6:110106241 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1120A>G (p.Ile374Val) single nucleotide variant Inborn genetic diseases [RCV002673674] Chr6:109743755 [GRCh38]
Chr6:110064958 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.646+13G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002716340] Chr6:109735311 [GRCh38]
Chr6:110056514 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1389-18G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002877125] Chr6:109763919 [GRCh38]
Chr6:110085122 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1779C>T (p.Leu593=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002746178] Chr6:109776950 [GRCh38]
Chr6:110098153 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2459G>T (p.Arg820Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003061981] Chr6:109792664 [GRCh38]
Chr6:110113867 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2067C>T (p.Thr689=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002675574] Chr6:109786420 [GRCh38]
Chr6:110107623 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2071dup (p.Cys691fs) duplication Charcot-Marie-Tooth disease type 4 [RCV002648094] Chr6:109786420..109786421 [GRCh38]
Chr6:110107623..110107624 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2376+9dup duplication Charcot-Marie-Tooth disease type 4 [RCV002628691] Chr6:109791575..109791576 [GRCh38]
Chr6:110112778..110112779 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.539C>T (p.Thr180Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002630259] Chr6:109735191 [GRCh38]
Chr6:110056394 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1917G>A (p.Val639=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002651480] Chr6:109784997 [GRCh38]
Chr6:110106200 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002857168] Chr6:109716463 [GRCh38]
Chr6:110037666 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.823A>C (p.Arg275=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002721745] Chr6:109741491 [GRCh38]
Chr6:110062694 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2460-5T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002635030] Chr6:109796760 [GRCh38]
Chr6:110117963 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.877-15C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002725863] Chr6:109743095 [GRCh38]
Chr6:110064298 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2370G>T (p.Val790=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002725891] Chr6:109791565 [GRCh38]
Chr6:110112768 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.337A>C (p.Arg113=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002725299] Chr6:109727156 [GRCh38]
Chr6:110048359 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2546+16G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002814534] Chr6:109796867 [GRCh38]
Chr6:110118070 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.447-18_447-17del deletion Charcot-Marie-Tooth disease type 4 [RCV003067652] Chr6:109732618..109732619 [GRCh38]
Chr6:110053821..110053822 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1584-1G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003067657]|not provided [RCV003143464] Chr6:109766728 [GRCh38]
Chr6:110087931 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.156del (p.Ile52fs) deletion Charcot-Marie-Tooth disease type 4 [RCV002676880] Chr6:109715166 [GRCh38]
Chr6:110036369 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2079T>A (p.Ala693=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002588769] Chr6:109786432 [GRCh38]
Chr6:110107635 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1574A>G (p.Asp525Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003072631] Chr6:109765152 [GRCh38]
Chr6:110086355 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.395T>G (p.Met132Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002725654] Chr6:109727214 [GRCh38]
Chr6:110048417 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.314A>G (p.Tyr105Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002587953] Chr6:109727133 [GRCh38]
Chr6:110048336 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1585T>C (p.Leu529=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003067934] Chr6:109766730 [GRCh38]
Chr6:110087933 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1388+7A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002633831] Chr6:109762214 [GRCh38]
Chr6:110083417 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1039+5G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003032158] Chr6:109743277 [GRCh38]
Chr6:110064480 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002608216] Chr6:109732687 [GRCh38]
Chr6:110053890 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1949-16G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002611277] Chr6:109786286 [GRCh38]
Chr6:110107489 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.117G>A (p.Leu39=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002680805] Chr6:109715128 [GRCh38]
Chr6:110036331 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002942833] Chr6:109735244 [GRCh38]
Chr6:110056447 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1137+12T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002634236] Chr6:109743784 [GRCh38]
Chr6:110064987 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.590G>A (p.Arg197His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002611932] Chr6:109735242 [GRCh38]
Chr6:110056445 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1751-17T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV002612303] Chr6:109776905 [GRCh38]
Chr6:110098108 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1970_1973del (p.Lys657fs) deletion not provided [RCV003145687] Chr6:109786321..109786324 [GRCh38]
Chr6:110107524..110107527 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4J [RCV003988088]|not provided [RCV003145690] Chr6:109738451 [GRCh38]
Chr6:110059654 [GRCh37]
Chr6:6q21		 pathogenic|likely pathogenic
NM_014845.6(FIG4):c.1049C>T (p.Ala350Val) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV003129580] Chr6:109743684 [GRCh38]
Chr6:110064887 [GRCh37]
Chr6:6q21		 pathogenic|no classifications from unflagged records
NM_014845.6(FIG4):c.1389-2A>G single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV004797323] Chr6:109763935 [GRCh38]
Chr6:110085138 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2431T>C (p.Ser811Pro) single nucleotide variant Inborn genetic diseases [RCV003279474] Chr6:109792636 [GRCh38]
Chr6:110113839 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.743T>C (p.Leu248Ser) single nucleotide variant not provided [RCV003221678] Chr6:109738421 [GRCh38]
Chr6:110059624 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.847C>T (p.Arg283Cys) single nucleotide variant not provided [RCV003147267] Chr6:109741515 [GRCh38]
Chr6:110062718 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.222T>G (p.Asn74Lys) single nucleotide variant Inborn genetic diseases [RCV003208945] Chr6:109716501 [GRCh38]
Chr6:110037704 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.503G>C (p.Ser168Thr) single nucleotide variant not provided [RCV003147268] Chr6:109735155 [GRCh38]
Chr6:110056358 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg) single nucleotide variant Bilateral parasagittal parieto-occipital polymicrogyria [RCV003338236]|Charcot-Marie-Tooth disease type 4J [RCV003338234]|Yunis-Varon syndrome [RCV003338235] Chr6:109735156 [GRCh38]
Chr6:110056359 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.646G>A (p.Gly216Arg) single nucleotide variant not provided [RCV003334283] Chr6:109735298 [GRCh38]
Chr6:110056501 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.837T>G (p.Phe279Leu) single nucleotide variant Amyotrophic lateral sclerosis [RCV003447397] Chr6:109741505 [GRCh38]
Chr6:110062708 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1231A>G (p.Ile411Val) single nucleotide variant Charcot-Marie-Tooth disease type 4J [RCV003447400] Chr6:109760343 [GRCh38]
Chr6:110081546 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.790G>A (p.Gly264Arg) single nucleotide variant not provided [RCV003481814] Chr6:109741458 [GRCh38]
Chr6:110062661 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2377-6C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003873481] Chr6:109792576 [GRCh38]
Chr6:110113779 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.711A>G (p.Ile237Met) single nucleotide variant not provided [RCV003457479] Chr6:109738389 [GRCh38]
Chr6:110059592 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1889+1G>T single nucleotide variant not provided [RCV003482687] Chr6:109777061 [GRCh38]
Chr6:110098264 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.964G>T (p.Val322Leu) single nucleotide variant not provided [RCV003428921] Chr6:109743197 [GRCh38]
Chr6:110064400 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.644G>A (p.Ser215Asn) single nucleotide variant not provided [RCV003481813] Chr6:109735296 [GRCh38]
Chr6:110056499 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.295G>T (p.Val99Phe) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV005055403]|Inborn genetic diseases [RCV004978888]|not provided [RCV003482688] Chr6:109727114 [GRCh38]
Chr6:110048317 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1162A>G (p.Arg388Gly) single nucleotide variant Amyotrophic lateral sclerosis [RCV003447399] Chr6:109760274 [GRCh38]
Chr6:110081477 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.858A>G (p.Lys286=) single nucleotide variant not provided [RCV003431995] Chr6:109741526 [GRCh38]
Chr6:110062729 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2029T>C (p.Phe677Leu) single nucleotide variant FIG4-related disorder [RCV003412394] Chr6:109786382 [GRCh38]
Chr6:110107585 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.143A>G (p.Asp48Gly) single nucleotide variant Amyotrophic lateral sclerosis [RCV003447398] Chr6:109715154 [GRCh38]
Chr6:110036357 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.267G>A (p.Ala89=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583230]|not provided [RCV003431994] Chr6:109716546 [GRCh38]
Chr6:110037749 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.868A>G (p.Asn290Asp) single nucleotide variant not provided [RCV003431996] Chr6:109741536 [GRCh38]
Chr6:110062739 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.67-1G>T single nucleotide variant Amyotrophic lateral sclerosis [RCV003447401] Chr6:109715077 [GRCh38]
Chr6:110036280 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2136A>G (p.Pro712=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003881176] Chr6:109789633 [GRCh38]
Chr6:110110836 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.285T>A (p.Val95=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003876374] Chr6:109716564 [GRCh38]
Chr6:110037767 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1389-15T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003881532] Chr6:109763922 [GRCh38]
Chr6:110085125 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.290-20C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003881916] Chr6:109727089 [GRCh38]
Chr6:110048292 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1435-6C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003876537] Chr6:109765007 [GRCh38]
Chr6:110086210 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1290T>C (p.Leu430=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003879380] Chr6:109762109 [GRCh38]
Chr6:110083312 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.67-18A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003880391] Chr6:109715060 [GRCh38]
Chr6:110036263 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1545T>A (p.Ile515=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745086] Chr6:109765123 [GRCh38]
Chr6:110086326 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1215G>A (p.Leu405=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003581420] Chr6:109760327 [GRCh38]
Chr6:110081530 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.647-20T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003743079] Chr6:109738305 [GRCh38]
Chr6:110059508 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.647-10del deletion Charcot-Marie-Tooth disease type 4 [RCV003743209] Chr6:109738312 [GRCh38]
Chr6:110059515 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.166-16A>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745092] Chr6:109716429 [GRCh38]
Chr6:110037632 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.775+20del deletion Charcot-Marie-Tooth disease type 4 [RCV003745240] Chr6:109738469 [GRCh38]
Chr6:110059672 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2377-7del deletion Charcot-Marie-Tooth disease type 4 [RCV003743423] Chr6:109792573 [GRCh38]
Chr6:110113776 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.775+10C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745670] Chr6:109738463 [GRCh38]
Chr6:110059666 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1764A>G (p.Gln588=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583325] Chr6:109776935 [GRCh38]
Chr6:110098138 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1065T>C (p.His355=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745897] Chr6:109743700 [GRCh38]
Chr6:110064903 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2176T>C (p.Leu726=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003582247] Chr6:109789673 [GRCh38]
Chr6:110110876 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.165+2T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003744111] Chr6:109715178 [GRCh38]
Chr6:110036381 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1272-14C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003582499] Chr6:109762077 [GRCh38]
Chr6:110083280 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1710C>T (p.Ile570=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003582497] Chr6:109766855 [GRCh38]
Chr6:110088058 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1040-16C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003834402] Chr6:109743659 [GRCh38]
Chr6:110064862 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1039+14T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003582544] Chr6:109743286 [GRCh38]
Chr6:110064489 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1A>G (p.Met1Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003744283] Chr6:109691436 [GRCh38]
Chr6:110012639 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1040-1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745257]|Yunis-Varon syndrome [RCV004787009] Chr6:109743674 [GRCh38]
Chr6:110064877 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.165+10C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003582509] Chr6:109715186 [GRCh38]
Chr6:110036389 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.486T>C (p.Asn162=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745665] Chr6:109732676 [GRCh38]
Chr6:110053879 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2127T>C (p.Asp709=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003743420] Chr6:109789624 [GRCh38]
Chr6:110110827 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1221T>C (p.Pro407=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003582570] Chr6:109760333 [GRCh38]
Chr6:110081536 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1949-6_1949-3del deletion Charcot-Marie-Tooth disease type 4 [RCV003744384] Chr6:109786296..109786299 [GRCh38]
Chr6:110107499..110107502 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2415C>T (p.Asn805=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003743116]|FIG4-related disorder [RCV004741665] Chr6:109792620 [GRCh38]
Chr6:110113823 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1731T>C (p.Tyr577=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583822] Chr6:109766876 [GRCh38]
Chr6:110088079 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2377-19_2377-18insC insertion Charcot-Marie-Tooth disease type 4 [RCV003834716] Chr6:109792563..109792564 [GRCh38]
Chr6:110113766..110113767 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1138-18G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745663] Chr6:109760232 [GRCh38]
Chr6:110081435 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2208A>G (p.Val736=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003743520] Chr6:109791403 [GRCh38]
Chr6:110112606 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1435-4T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003850649] Chr6:109765009 [GRCh38]
Chr6:110086212 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1949-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583680] Chr6:109786297 [GRCh38]
Chr6:110107500 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1949-18A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003744480] Chr6:109786284 [GRCh38]
Chr6:110107487 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2376+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583859] Chr6:109791572 [GRCh38]
Chr6:110112775 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2377-13_2377-10del deletion Charcot-Marie-Tooth disease type 4 [RCV003744466] Chr6:109792561..109792564 [GRCh38]
Chr6:110113764..110113767 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1272-20A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583899] Chr6:109762071 [GRCh38]
Chr6:110083274 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583988] Chr6:109766859 [GRCh38]
Chr6:110088062 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2377-12_2377-10del deletion Charcot-Marie-Tooth disease type 4 [RCV003745096] Chr6:109792561..109792563 [GRCh38]
Chr6:110113764..110113766 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.66+17G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003743133] Chr6:109691518 [GRCh38]
Chr6:110012721 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.166-10T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583996] Chr6:109716435 [GRCh38]
Chr6:110037638 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2376+13G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583997] Chr6:109791584 [GRCh38]
Chr6:110112787 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2073C>T (p.Cys691=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745244] Chr6:109786426 [GRCh38]
Chr6:110107629 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1071T>C (p.Ala357=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583955] Chr6:109743706 [GRCh38]
Chr6:110064909 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1134del (p.Lys379fs) deletion Charcot-Marie-Tooth disease type 4 [RCV003743172] Chr6:109743769 [GRCh38]
Chr6:110064972 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2124T>C (p.Ile708=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003814499] Chr6:109789621 [GRCh38]
Chr6:110110824 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2459+8A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583563] Chr6:109792672 [GRCh38]
Chr6:110113875 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.289+19T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583567] Chr6:109716587 [GRCh38]
Chr6:110037790 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.591C>T (p.Arg197=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583326] Chr6:109735243 [GRCh38]
Chr6:110056446 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1885A>C (p.Arg629=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003743091] Chr6:109777056 [GRCh38]
Chr6:110098259 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1380A>G (p.Pro460=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745230] Chr6:109762199 [GRCh38]
Chr6:110083402 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.66+19C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003584020] Chr6:109691520 [GRCh38]
Chr6:110012723 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.877-7T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003583970] Chr6:109743103 [GRCh38]
Chr6:110064306 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.66+9C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003744413] Chr6:109691510 [GRCh38]
Chr6:110012713 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.647-4del deletion Charcot-Marie-Tooth disease type 4 [RCV003743487] Chr6:109738317 [GRCh38]
Chr6:110059520 [GRCh37]
Chr6:6q21		 benign
NM_014845.6(FIG4):c.2096+11T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003743500] Chr6:109786460 [GRCh38]
Chr6:110107663 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1227del (p.His409fs) deletion Charcot-Marie-Tooth disease type 4 [RCV003583874] Chr6:109760339 [GRCh38]
Chr6:110081542 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.289+13C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003744086] Chr6:109716581 [GRCh38]
Chr6:110037784 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003857535] Chr6:109784985 [GRCh38]
Chr6:110106188 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.2096+10G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003822812] Chr6:109786459 [GRCh38]
Chr6:110107662 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003864605] Chr6:109765047 [GRCh38]
Chr6:110086250 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.290-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003819583] Chr6:109727104 [GRCh38]
Chr6:110048307 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1287T>A (p.Val429=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003872477] Chr6:109762106 [GRCh38]
Chr6:110083309 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:108992778-110303422)x1 copy number loss not specified [RCV003986671] Chr6:108992778..110303422 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1040-18A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003866800] Chr6:109743657 [GRCh38]
Chr6:110064860 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1583+7C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003868052] Chr6:109765168 [GRCh38]
Chr6:110086371 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1389-19T>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003871238] Chr6:109763918 [GRCh38]
Chr6:110085121 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1584-10C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745911] Chr6:109766719 [GRCh38]
Chr6:110087922 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1374G>A (p.Leu458=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003745914] Chr6:109762193 [GRCh38]
Chr6:110083396 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1039+7G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV003860141] Chr6:109743279 [GRCh38]
Chr6:110064482 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:109925900-110080533)x1 copy number loss not specified [RCV003986613] Chr6:109925900..110080533 [GRCh37]
Chr6:6q21		 pathogenic
NC_000006.12:g.109877842C>T single nucleotide variant not provided [RCV003993483] Chr6:109877842 [GRCh38]
Chr6:110199045 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.166-5C>T single nucleotide variant FIG4-related disorder [RCV003901972] Chr6:109716440 [GRCh38]
Chr6:110037643 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.164G>A (p.Arg55Lys) single nucleotide variant FIG4-related disorder [RCV003897148] Chr6:109715175 [GRCh38]
Chr6:110036378 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.863G>A (p.Gly288Asp) single nucleotide variant See cases [RCV003886332] Chr6:109741531 [GRCh38]
Chr6:110062734 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.1833A>G (p.Pro611=) single nucleotide variant FIG4-related disorder [RCV003899065] Chr6:109777004 [GRCh38]
Chr6:110098207 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2547-3T>C single nucleotide variant FIG4-related disorder [RCV003949274] Chr6:109825085 [GRCh38]
Chr6:110146288 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2316_2317del (p.Gln774fs) microsatellite FIG4-related disorder [RCV003901622] Chr6:109791508..109791509 [GRCh38]
Chr6:110112711..110112712 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.649G>T (p.Val217Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4J [RCV004720628] Chr6:109738327 [GRCh38]
Chr6:110059530 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1 copy number loss not provided [RCV004577478] Chr6:109324789..124836619 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NM_014845.6(FIG4):c.1652T>C (p.Val551Ala) single nucleotide variant Inborn genetic diseases [RCV004386515] Chr6:109766797 [GRCh38]
Chr6:110088000 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2377-1G>A single nucleotide variant Inborn genetic diseases [RCV004386516] Chr6:109792581 [GRCh38]
Chr6:110113784 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.479C>G (p.Ser160Cys) single nucleotide variant Inborn genetic diseases [RCV004386517] Chr6:109732669 [GRCh38]
Chr6:110053872 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2027A>G (p.Glu676Gly) single nucleotide variant Yunis-Varon syndrome [RCV004576121] Chr6:109786380 [GRCh38]
Chr6:110107583 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_109765394)_(110053910_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV004578693] Chr6:109765394..110053910 [GRCh37]
Chr6:6q21		 pathogenic
NC_000006.11:g.(?_110081434)_(110085144_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV004578694] Chr6:110081434..110085144 [GRCh37]
Chr6:6q21		 likely pathogenic
NC_000006.11:g.(?_110087912)_(110088118_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV004578692] Chr6:110087912..110088118 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.*8G>A single nucleotide variant not specified [RCV004701198] Chr6:109825273 [GRCh38]
Chr6:110146476 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1681G>A (p.Ala561Thr) single nucleotide variant Inborn genetic diseases [RCV004623511] Chr6:109766826 [GRCh38]
Chr6:110088029 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2045A>C (p.Glu682Ala) single nucleotide variant Inborn genetic diseases [RCV004623508] Chr6:109786398 [GRCh38]
Chr6:110107601 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1460T>C (p.Val487Ala) single nucleotide variant Inborn genetic diseases [RCV004623509] Chr6:109765038 [GRCh38]
Chr6:110086241 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1263T>A (p.Tyr421Ter) single nucleotide variant not provided [RCV004599075] Chr6:109760375 [GRCh38]
Chr6:110081578 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.987C>T (p.Pro329=) single nucleotide variant not provided [RCV004810315] Chr6:109743220 [GRCh38]
Chr6:110064423 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2663A>G (p.Gln888Arg) single nucleotide variant FIG4-related disorder [RCV004742745]|Inborn genetic diseases [RCV004981185] Chr6:109825204 [GRCh38]
Chr6:110146407 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1866G>A (p.Met622Ile) single nucleotide variant FIG4-related disorder [RCV004724397] Chr6:109777037 [GRCh38]
Chr6:110098240 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2696G>A (p.Arg899Gln) single nucleotide variant FIG4-related disorder [RCV004742770] Chr6:109825237 [GRCh38]
Chr6:110146440 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2180+10G>A single nucleotide variant FIG4-related disorder [RCV004744061] Chr6:109789687 [GRCh38]
Chr6:110110890 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1589_1590del (p.Leu529_Phe530insTer) deletion not provided [RCV004719456] Chr6:109766733..109766734 [GRCh38]
Chr6:110087936..110087937 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2060A>G (p.Asp687Gly) single nucleotide variant Inborn genetic diseases [RCV004975114] Chr6:109786413 [GRCh38]
Chr6:110107616 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2551C>A (p.Pro851Thr) single nucleotide variant Inborn genetic diseases [RCV004975112] Chr6:109825092 [GRCh38]
Chr6:110146295 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2442T>C (p.Asp814=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005110278]|Inborn genetic diseases [RCV004975111] Chr6:109792647 [GRCh38]
Chr6:110113850 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2429T>C (p.Leu810Pro) single nucleotide variant Inborn genetic diseases [RCV004975115] Chr6:109792634 [GRCh38]
Chr6:110113837 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1255G>T (p.Ala419Ser) single nucleotide variant not provided [RCV004997582] Chr6:109760367 [GRCh38]
Chr6:110081570 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1693C>T (p.Gln565Ter) single nucleotide variant not provided [RCV004997596] Chr6:109766838 [GRCh38]
Chr6:110088041 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.221A>G (p.Asn74Ser) single nucleotide variant Inborn genetic diseases [RCV004975116] Chr6:109716500 [GRCh38]
Chr6:110037703 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2248A>G (p.Ser750Gly) single nucleotide variant Inborn genetic diseases [RCV004975113] Chr6:109791443 [GRCh38]
Chr6:110112646 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.648G>A (p.Gly216=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005173755] Chr6:109738326 [GRCh38]
Chr6:110059529 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2043T>G (p.Tyr681Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005147103] Chr6:109786396 [GRCh38]
Chr6:110107599 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.877-8_877-5del microsatellite Charcot-Marie-Tooth disease type 4 [RCV005086044] Chr6:109743098..109743101 [GRCh38]
Chr6:110064301..110064304 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1272-7T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005175254] Chr6:109762084 [GRCh38]
Chr6:110083287 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.166-11C>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005063774] Chr6:109716434 [GRCh38]
Chr6:110037637 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1419C>T (p.Pro473=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005065695] Chr6:109763967 [GRCh38]
Chr6:110085170 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.877-11T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005170861] Chr6:109743099 [GRCh38]
Chr6:110064302 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.876+7T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005085726] Chr6:109741551 [GRCh38]
Chr6:110062754 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.123T>C (p.Ile41=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005087762] Chr6:109715134 [GRCh38]
Chr6:110036337 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.128G>T (p.Arg43Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005065681] Chr6:109715139 [GRCh38]
Chr6:110036342 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.1271+10dup duplication Charcot-Marie-Tooth disease type 4 [RCV005174601] Chr6:109760392..109760393 [GRCh38]
Chr6:110081595..110081596 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.446+20C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005173163] Chr6:109727285 [GRCh38]
Chr6:110048488 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1949-19C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005170145] Chr6:109786283 [GRCh38]
Chr6:110107486 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1750+1G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005186887] Chr6:109766896 [GRCh38]
Chr6:110088099 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.446G>C (p.Arg149Thr) single nucleotide variant not specified [RCV005239832] Chr6:109727265 [GRCh38]
Chr6:110048468 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.876+14C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005194330] Chr6:109741558 [GRCh38]
Chr6:110062761 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.501C>G (p.Tyr167Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005126032] Chr6:109735153 [GRCh38]
Chr6:110056356 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.290-1G>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005153029] Chr6:109727108 [GRCh38]
Chr6:110048311 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.876+19T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005155233] Chr6:109741563 [GRCh38]
Chr6:110062766 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2180+8T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005134548] Chr6:109789685 [GRCh38]
Chr6:110110888 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1039+13A>G single nucleotide variant not specified [RCV005238493] Chr6:109743285 [GRCh38]
Chr6:110064488 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2058del (p.Phe686fs) deletion Charcot-Marie-Tooth disease type 4 [RCV005108707] Chr6:109786409 [GRCh38]
Chr6:110107612 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.775+8T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005127310] Chr6:109738461 [GRCh38]
Chr6:110059664 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.876+7T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005141129] Chr6:109741551 [GRCh38]
Chr6:110062754 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1751-7T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005123109] Chr6:109776915 [GRCh38]
Chr6:110098118 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1890-5T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005168306] Chr6:109784965 [GRCh38]
Chr6:110106168 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2022C>T (p.His674=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005168356] Chr6:109786375 [GRCh38]
Chr6:110107578 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2091A>G (p.Ser697=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005199664] Chr6:109786444 [GRCh38]
Chr6:110107647 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1138-20A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005169674] Chr6:109760230 [GRCh38]
Chr6:110081433 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.497+11G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005083473] Chr6:109732698 [GRCh38]
Chr6:110053901 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2589T>G (p.Val863=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005194622] Chr6:109825130 [GRCh38]
Chr6:110146333 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1308T>A (p.Ile436=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005202206] Chr6:109762127 [GRCh38]
Chr6:110083330 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.945A>C (p.Ala315=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005193767] Chr6:109743178 [GRCh38]
Chr6:110064381 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.594A>C (p.Gln198His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005083083] Chr6:109735246 [GRCh38]
Chr6:110056449 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.382G>T (p.Glu128Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005125568] Chr6:109727201 [GRCh38]
Chr6:110048404 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.1218T>C (p.Pro406=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005125713] Chr6:109760330 [GRCh38]
Chr6:110081533 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1143A>G (p.Arg381=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005198355] Chr6:109760255 [GRCh38]
Chr6:110081458 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1530T>C (p.Tyr510=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005132649] Chr6:109765108 [GRCh38]
Chr6:110086311 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1125G>A (p.Leu375=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005165611] Chr6:109743760 [GRCh38]
Chr6:110064963 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1986G>A (p.Lys662=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005077466] Chr6:109786339 [GRCh38]
Chr6:110107542 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2459+16G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005176162] Chr6:109792680 [GRCh38]
Chr6:110113883 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.647-18C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005180799] Chr6:109738307 [GRCh38]
Chr6:110059510 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1294C>T (p.Arg432Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005191709]|FIG4-related disorder [RCV005230865] Chr6:109762113 [GRCh38]
Chr6:110083316 [GRCh37]
Chr6:6q21		 pathogenic
NM_014845.6(FIG4):c.446+7A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005068550] Chr6:109727272 [GRCh38]
Chr6:110048475 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.446+13G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005136559] Chr6:109727278 [GRCh38]
Chr6:110048481 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2433A>G (p.Ser811=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005156480] Chr6:109792638 [GRCh38]
Chr6:110113841 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2334C>G (p.Pro778=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005183781] Chr6:109791529 [GRCh38]
Chr6:110112732 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.66+11C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005153118] Chr6:109691512 [GRCh38]
Chr6:110012715 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1271G>C (p.Ser424Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005198884] Chr6:109760383 [GRCh38]
Chr6:110081586 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.672T>A (p.Pro224=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005184070] Chr6:109738350 [GRCh38]
Chr6:110059553 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2373C>T (p.Thr791=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005074621] Chr6:109791568 [GRCh38]
Chr6:110112771 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1388+2T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005151301] Chr6:109762209 [GRCh38]
Chr6:110083412 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.2459+20A>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005115329] Chr6:109792684 [GRCh38]
Chr6:110113887 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2556C>T (p.Ile852=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005148230] Chr6:109825097 [GRCh38]
Chr6:110146300 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2265C>T (p.Ser755=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV005197430] Chr6:109791460 [GRCh38]
Chr6:110112663 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1429C>G (p.Leu477Val) single nucleotide variant Inborn genetic diseases [RCV005336605] Chr6:109763977 [GRCh38]
Chr6:110085180 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2350G>A (p.Ala784Thr) single nucleotide variant Inborn genetic diseases [RCV005336607] Chr6:109791545 [GRCh38]
Chr6:110112748 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.2597C>A (p.Pro866Gln) single nucleotide variant Inborn genetic diseases [RCV005336608] Chr6:109825138 [GRCh38]
Chr6:110146341 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2048T>C (p.Leu683Ser) single nucleotide variant Inborn genetic diseases [RCV005336609] Chr6:109786401 [GRCh38]
Chr6:110107604 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2587G>A (p.Val863Ile) single nucleotide variant Inborn genetic diseases [RCV005336606] Chr6:109825128 [GRCh38]
Chr6:110146331 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2554A>G (p.Ile852Val) single nucleotide variant Inborn genetic diseases [RCV005336604] Chr6:109825095 [GRCh38]
Chr6:110146298 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.780G>A (p.Leu260=) single nucleotide variant not specified [RCV005408566] Chr6:109741448 [GRCh38]
Chr6:110062651 [GRCh37]
Chr6:6q21		 likely benign
NM_014845.6(FIG4):c.1150A>T (p.Arg384Ter) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV005400350] Chr6:109760262 [GRCh38]
Chr6:110081465 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_014845.6(FIG4):c.31T>G (p.Ser11Ala) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV005400353] Chr6:109691466 [GRCh38]
Chr6:110012669 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.721A>G (p.Thr241Ala) single nucleotide variant Inborn genetic diseases [RCV005327899] Chr6:109738399 [GRCh38]
Chr6:110059602 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.288G>C (p.Val96=) single nucleotide variant Amyotrophic lateral sclerosis type 11 [RCV005410189] Chr6:109716567 [GRCh38]
Chr6:110037770 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.398T>C (p.Ile133Thr) single nucleotide variant not provided [RCV005417159] Chr6:109727217 [GRCh38]
Chr6:110048420 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.352G>T (p.Asp118Tyr) single nucleotide variant Leukemia, chronic lymphocytic, susceptibility to, 3 [RCV005410190] Chr6:109727171 [GRCh38]
Chr6:110048374 [GRCh37]
Chr6:6q21		 uncertain significance
NM_014845.6(FIG4):c.2496C>G (p.Asp832Glu) single nucleotide variant Yunis-Varon syndrome [RCV005413378] Chr6:109796801 [GRCh38]
Chr6:110118004 [GRCh37]
Chr6:6q21		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:674
Count of miRNA genes:488
Interacting mature miRNAs:541
Transcripts:ENST00000230124, ENST00000368941, ENST00000415980, ENST00000419951, ENST00000441478, ENST00000454215
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597289145GWAS1385219_HBMI-adjusted hip circumference QTL GWAS1385219 (human)6e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)6109769861109769862Human
597416536GWAS1512610_Hmajor depressive disorder QTL GWAS1512610 (human)0.000003major depressive disorder6109737837109737838Human
597452536GWAS1548610_HHbA1c measurement QTL GWAS1548610 (human)3e-18blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)6109737797109737798Human
597144467GWAS1240541_HCOVID-19 QTL GWAS1240541 (human)0.000009COVID-196109798928109798929Human
597145555GWAS1241629_HCOVID-19 QTL GWAS1241629 (human)3e-11COVID-196109815226109815227Human
597389630GWAS1485704_Happendicular lean mass QTL GWAS1485704 (human)4e-09body lean mass (VT:0010483)6109769107109769108Human
596957554GWAS1077073_Hthyroxine measurement QTL GWAS1077073 (human)9e-11thyroxine measurement6109718639109718640Human
407113667GWAS762643_Hmean corpuscular hemoglobin QTL GWAS762643 (human)4e-30erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)6109731312109731313Human
407385504GWAS1034480_Hobsolete_red blood cell distribution width QTL GWAS1034480 (human)5e-16obsolete_red blood cell distribution width6109799064109799065Human
596958364GWAS1077883_HRed cell distribution width QTL GWAS1077883 (human)5e-16Red cell distribution width6109799064109799065Human
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human
406929195GWAS578171_Hapolipoprotein B measurement QTL GWAS578171 (human)2e-08apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)6109706873109706874Human
597518897GWAS1614971_Hforced expiratory volume QTL GWAS1614971 (human)3e-11lung capacity (VT:0001942)forced expiratory volume (CMO:0000254)6109737797109737798Human
597187348GWAS1283422_Hpeak expiratory flow QTL GWAS1283422 (human)8e-09pulmonary ventilation trait (VT:0002338)maximum mid-expiratory flow (MMEF) (CMO:0000253)6109755820109755821Human
597436592GWAS1532666_Hlipid measurement QTL GWAS1532666 (human)0.000008lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)6109775693109775694Human
597347351GWAS1443425_Hlean body mass QTL GWAS1443425 (human)5e-19body lean mass (VT:0010483)total body lean mass (CMO:0003950)6109693890109693891Human
597107962GWAS1204036_HRed cell distribution width QTL GWAS1204036 (human)2e-15erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)6109768846109768847Human
407084464GWAS733440_Hobsolete_red blood cell distribution width QTL GWAS733440 (human)2e-15obsolete_red blood cell distribution width6109768846109768847Human
407302386GWAS951362_Hunipolar depression QTL GWAS951362 (human)0.000003unipolar depression6109737837109737838Human
596970720GWAS1090239_Hmajor depressive disorder QTL GWAS1090239 (human)0.000003major depressive disorder6109737837109737838Human
597050625GWAS1146699_Herythrocyte count QTL GWAS1146699 (human)1e-10erythrocyte countred blood cell count (CMO:0000025)6109717951109717952Human
596977068GWAS1096587_HRed cell distribution width QTL GWAS1096587 (human)2e-15Red cell distribution width6109768846109768847Human
597052751GWAS1148825_HRed cell distribution width QTL GWAS1148825 (human)5e-16erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)6109799064109799065Human

Markers in Region
D6S2073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,146,456 - 110,146,580UniSTSGRCh37
Build 366110,253,149 - 110,253,273RGDNCBI36
Celera6110,893,114 - 110,893,238RGD
Cytogenetic Map6q21UniSTS
HuRef6107,712,893 - 107,713,017UniSTS
GeneMap99-GB4 RH Map6460.55UniSTS
NCBI RH Map61401.4UniSTS
GeneMap99-G3 RH Map64864.0UniSTS
RH119720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,045,368 - 110,045,649UniSTSGRCh37
Build 366110,152,061 - 110,152,342RGDNCBI36
Celera6110,791,990 - 110,792,271RGD
Cytogenetic Map6q21UniSTS
HuRef6107,611,513 - 107,611,794UniSTS
TNG Radiation Hybrid Map652685.0UniSTS
G59323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,131,145 - 110,131,430UniSTSGRCh37
Build 366110,237,838 - 110,238,123RGDNCBI36
Celera6110,877,801 - 110,878,086RGD
Cytogenetic Map6q21UniSTS
HuRef6107,697,598 - 107,697,883UniSTS
TNG Radiation Hybrid Map652719.0UniSTS
SHGC-145585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,120,278 - 110,120,615UniSTSGRCh37
Build 366110,226,971 - 110,227,308RGDNCBI36
Celera6110,866,933 - 110,867,270RGD
Cytogenetic Map6q21UniSTS
HuRef6107,686,730 - 107,687,067UniSTS
TNG Radiation Hybrid Map652716.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA815086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA946705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI476769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM016965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU683891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA811740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000230124   ⟹   ENSP00000230124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,825,426 (+)Ensembl
Ensembl Acc Id: ENST00000368941   ⟹   ENSP00000357937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,295 - 109,743,480 (+)Ensembl
Ensembl Acc Id: ENST00000415980   ⟹   ENSP00000405660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,317 - 109,825,339 (+)Ensembl
Ensembl Acc Id: ENST00000419951   ⟹   ENSP00000396566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,786,006 - 109,796,803 (+)Ensembl
Ensembl Acc Id: ENST00000454215   ⟹   ENSP00000412156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,743,246 (+)Ensembl
Ensembl Acc Id: ENST00000458693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,826,522 - 109,828,785 (+)Ensembl
Ensembl Acc Id: ENST00000674532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,266 - 109,825,375 (+)Ensembl
Ensembl Acc Id: ENST00000674557   ⟹   ENSP00000501608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,315 - 109,825,404 (+)Ensembl
Ensembl Acc Id: ENST00000674569   ⟹   ENSP00000502769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,825,412 (+)Ensembl
Ensembl Acc Id: ENST00000674571   ⟹   ENSP00000501633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,825,400 (+)Ensembl
Ensembl Acc Id: ENST00000674573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,795,874 - 109,825,312 (+)Ensembl
Ensembl Acc Id: ENST00000674575   ⟹   ENSP00000502276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,265 - 109,825,291 (+)Ensembl
Ensembl Acc Id: ENST00000674614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,738,181 (+)Ensembl
Ensembl Acc Id: ENST00000674641   ⟹   ENSP00000501609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,825,410 (+)Ensembl
Ensembl Acc Id: ENST00000674644   ⟹   ENSP00000502201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,792,606 (+)Ensembl
Ensembl Acc Id: ENST00000674649   ⟹   ENSP00000501669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,825,352 (+)Ensembl
Ensembl Acc Id: ENST00000674657   ⟹   ENSP00000502314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,279 - 109,825,406 (+)Ensembl
Ensembl Acc Id: ENST00000674744   ⟹   ENSP00000501661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,281 - 109,825,391 (+)Ensembl
Ensembl Acc Id: ENST00000674778   ⟹   ENSP00000502742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,265 - 109,825,410 (+)Ensembl
Ensembl Acc Id: ENST00000674783   ⟹   ENSP00000502755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,286 - 109,825,405 (+)Ensembl
Ensembl Acc Id: ENST00000674830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,465 - 109,764,419 (+)Ensembl
Ensembl Acc Id: ENST00000674884   ⟹   ENSP00000502668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,315 - 109,825,405 (+)Ensembl
Ensembl Acc Id: ENST00000674930   ⟹   ENSP00000502657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,825,424 (+)Ensembl
Ensembl Acc Id: ENST00000674933   ⟹   ENSP00000502376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,265 - 109,825,371 (+)Ensembl
Ensembl Acc Id: ENST00000674956   ⟹   ENSP00000501904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,825,396 (+)Ensembl
Ensembl Acc Id: ENST00000675002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,701,569 - 109,738,473 (+)Ensembl
Ensembl Acc Id: ENST00000675004   ⟹   ENSP00000501868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,288 - 109,825,210 (+)Ensembl
Ensembl Acc Id: ENST00000675009   ⟹   ENSP00000502098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,281 - 109,825,199 (+)Ensembl
Ensembl Acc Id: ENST00000675096   ⟹   ENSP00000502116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,825,339 (+)Ensembl
Ensembl Acc Id: ENST00000675115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,303 - 109,697,864 (+)Ensembl
Ensembl Acc Id: ENST00000675122   ⟹   ENSP00000501810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,216 - 109,825,431 (+)Ensembl
Ensembl Acc Id: ENST00000675153   ⟹   ENSP00000501682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,323 - 109,828,785 (+)Ensembl
Ensembl Acc Id: ENST00000675254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,788,747 - 109,797,284 (+)Ensembl
Ensembl Acc Id: ENST00000675272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,736,773 - 109,825,426 (+)Ensembl
Ensembl Acc Id: ENST00000675284   ⟹   ENSP00000502758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,797,302 (+)Ensembl
Ensembl Acc Id: ENST00000675301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,766,402 - 109,825,426 (+)Ensembl
Ensembl Acc Id: ENST00000675311   ⟹   ENSP00000501961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,825,414 (+)Ensembl
Ensembl Acc Id: ENST00000675426   ⟹   ENSP00000501819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,286 - 109,825,355 (+)Ensembl
Ensembl Acc Id: ENST00000675516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,758,867 - 109,762,140 (+)Ensembl
Ensembl Acc Id: ENST00000675523   ⟹   ENSP00000502384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,286 - 109,825,426 (+)Ensembl
Ensembl Acc Id: ENST00000675552   ⟹   ENSP00000502197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,286 - 109,829,119 (+)Ensembl
Ensembl Acc Id: ENST00000675606   ⟹   ENSP00000501583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,286 - 109,727,149 (+)Ensembl
Ensembl Acc Id: ENST00000675681   ⟹   ENSP00000502705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,767,208 (+)Ensembl
Ensembl Acc Id: ENST00000675714   ⟹   ENSP00000502561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,288 - 109,791,772 (+)Ensembl
Ensembl Acc Id: ENST00000675726   ⟹   ENSP00000502452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,249 - 109,825,407 (+)Ensembl
Ensembl Acc Id: ENST00000675772   ⟹   ENSP00000501678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,878,098 (+)Ensembl
Ensembl Acc Id: ENST00000675831   ⟹   ENSP00000502382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,313 - 109,825,312 (+)Ensembl
Ensembl Acc Id: ENST00000675834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,727,109 - 109,735,298 (+)Ensembl
Ensembl Acc Id: ENST00000675844   ⟹   ENSP00000502353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,690,609 - 109,738,679 (+)Ensembl
Ensembl Acc Id: ENST00000675847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,769,745 (+)Ensembl
Ensembl Acc Id: ENST00000675849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,762,927 - 109,825,405 (+)Ensembl
Ensembl Acc Id: ENST00000675879   ⟹   ENSP00000502582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,762,091 - 109,825,422 (+)Ensembl
Ensembl Acc Id: ENST00000675887   ⟹   ENSP00000502123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,792,603 (+)Ensembl
Ensembl Acc Id: ENST00000675954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,773,839 - 109,825,395 (+)Ensembl
Ensembl Acc Id: ENST00000675973   ⟹   ENSP00000502407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,767,027 (+)Ensembl
Ensembl Acc Id: ENST00000675991   ⟹   ENSP00000502162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,280 - 109,825,427 (+)Ensembl
Ensembl Acc Id: ENST00000675994   ⟹   ENSP00000502419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,417 - 109,825,383 (+)Ensembl
Ensembl Acc Id: ENST00000676021   ⟹   ENSP00000502746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,312 - 109,825,705 (+)Ensembl
Ensembl Acc Id: ENST00000676037   ⟹   ENSP00000502181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,265 - 109,825,422 (+)Ensembl
Ensembl Acc Id: ENST00000676136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,825,381 (+)Ensembl
Ensembl Acc Id: ENST00000676246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,791,306 - 109,796,851 (+)Ensembl
Ensembl Acc Id: ENST00000676435   ⟹   ENSP00000502614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,296 - 109,743,480 (+)Ensembl
Ensembl Acc Id: ENST00000676442   ⟹   ENSP00000502595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6109,691,265 - 109,825,414 (+)Ensembl
RefSeq Acc Id: NM_014845   ⟹   NP_055660
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,691,296 - 109,825,426 (+)NCBI
GRCh376110,012,424 - 110,146,634 (+)ENTREZGENE
GRCh376110,012,424 - 110,146,634 (+)NCBI
Build 366110,119,161 - 110,253,327 (+)NCBI Archive
HuRef6107,578,606 - 107,713,071 (+)ENTREZGENE
CHM1_16110,275,404 - 110,409,874 (+)NCBI
T2T-CHM13v2.06110,869,350 - 111,003,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536281   ⟹   XP_011534583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,700,902 - 109,825,426 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054356905   ⟹   XP_054212880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06110,878,953 - 111,003,788 (+)NCBI
RefSeq Acc Id: NP_055660   ⟸   NM_014845
- UniProtKB: Q53H49 (UniProtKB/Swiss-Prot),   Q5TCS6 (UniProtKB/Swiss-Prot),   Q92562 (UniProtKB/Swiss-Prot),   A0A6Q8PF62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011534583   ⟸   XM_011536281
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PF62 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000405660   ⟸   ENST00000415980
Ensembl Acc Id: ENSP00000412156   ⟸   ENST00000454215
Ensembl Acc Id: ENSP00000230124   ⟸   ENST00000230124
Ensembl Acc Id: ENSP00000396566   ⟸   ENST00000419951
Ensembl Acc Id: ENSP00000357937   ⟸   ENST00000368941
Ensembl Acc Id: ENSP00000502657   ⟸   ENST00000674930
Ensembl Acc Id: ENSP00000502376   ⟸   ENST00000674933
Ensembl Acc Id: ENSP00000501904   ⟸   ENST00000674956
Ensembl Acc Id: ENSP00000502668   ⟸   ENST00000674884
Ensembl Acc Id: ENSP00000502755   ⟸   ENST00000674783
Ensembl Acc Id: ENSP00000502742   ⟸   ENST00000674778
Ensembl Acc Id: ENSP00000501661   ⟸   ENST00000674744
Ensembl Acc Id: ENSP00000502314   ⟸   ENST00000674657
Ensembl Acc Id: ENSP00000501609   ⟸   ENST00000674641
Ensembl Acc Id: ENSP00000502201   ⟸   ENST00000674644
Ensembl Acc Id: ENSP00000501669   ⟸   ENST00000674649
Ensembl Acc Id: ENSP00000501633   ⟸   ENST00000674571
Ensembl Acc Id: ENSP00000502276   ⟸   ENST00000674575
Ensembl Acc Id: ENSP00000502769   ⟸   ENST00000674569
Ensembl Acc Id: ENSP00000501608   ⟸   ENST00000674557
Ensembl Acc Id: ENSP00000502382   ⟸   ENST00000675831
Ensembl Acc Id: ENSP00000502353   ⟸   ENST00000675844
Ensembl Acc Id: ENSP00000501678   ⟸   ENST00000675772
Ensembl Acc Id: ENSP00000502561   ⟸   ENST00000675714
Ensembl Acc Id: ENSP00000502452   ⟸   ENST00000675726
Ensembl Acc Id: ENSP00000502705   ⟸   ENST00000675681
Ensembl Acc Id: ENSP00000501583   ⟸   ENST00000675606
Ensembl Acc Id: ENSP00000502197   ⟸   ENST00000675552
Ensembl Acc Id: ENSP00000502384   ⟸   ENST00000675523
Ensembl Acc Id: ENSP00000501819   ⟸   ENST00000675426
Ensembl Acc Id: ENSP00000502162   ⟸   ENST00000675991
Ensembl Acc Id: ENSP00000502419   ⟸   ENST00000675994
Ensembl Acc Id: ENSP00000502407   ⟸   ENST00000675973
Ensembl Acc Id: ENSP00000502582   ⟸   ENST00000675879
Ensembl Acc Id: ENSP00000502123   ⟸   ENST00000675887
Ensembl Acc Id: ENSP00000501961   ⟸   ENST00000675311
Ensembl Acc Id: ENSP00000502758   ⟸   ENST00000675284
Ensembl Acc Id: ENSP00000501682   ⟸   ENST00000675153
Ensembl Acc Id: ENSP00000501810   ⟸   ENST00000675122
Ensembl Acc Id: ENSP00000502116   ⟸   ENST00000675096
Ensembl Acc Id: ENSP00000501868   ⟸   ENST00000675004
Ensembl Acc Id: ENSP00000502098   ⟸   ENST00000675009
Ensembl Acc Id: ENSP00000502181   ⟸   ENST00000676037
Ensembl Acc Id: ENSP00000502746   ⟸   ENST00000676021
Ensembl Acc Id: ENSP00000502595   ⟸   ENST00000676442
Ensembl Acc Id: ENSP00000502614   ⟸   ENST00000676435
RefSeq Acc Id: XP_054212880   ⟸   XM_054356905
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PF62 (UniProtKB/TrEMBL)
Protein Domains
SAC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92562-F1-model_v2 AlphaFold Q92562 1-907 view protein structure

Promoters
RGD ID:7208871
Promoter ID:EPDNEW_H10182
Type:initiation region
Name:FIG4_1
Description:FIG4 phosphoinositide 5-phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386109,691,312 - 109,691,372EPDNEW
RGD ID:6804061
Promoter ID:HG_KWN:54615
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000285397,   ENST00000341338,   ENST00000368944,   ENST00000368948,   NM_001145128,   NM_014845,   OTTHUMT00000041767,   UC003PTS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366110,118,874 - 110,119,374 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16873 AgrOrtholog
COSMIC FIG4 COSMIC
Ensembl Genes ENSG00000112367 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000230124 ENTREZGENE
  ENST00000230124.8 UniProtKB/Swiss-Prot
GTEx ENSG00000112367 GTEx
HGNC ID HGNC:16873 ENTREZGENE
Human Proteome Map FIG4 Human Proteome Map
InterPro Fig4-like UniProtKB/Swiss-Prot
  SAC_dom UniProtKB/Swiss-Prot
KEGG Report hsa:9896 UniProtKB/Swiss-Prot
NCBI Gene 9896 ENTREZGENE
OMIM 609390 OMIM
PANTHER POLYPHOSPHOINOSITIDE PHOSPHATASE UniProtKB/Swiss-Prot
  PTHR45738 UniProtKB/Swiss-Prot
Pfam Syja_N UniProtKB/Swiss-Prot
PharmGKB PA162388528 PharmGKB
PROSITE SAC UniProtKB/Swiss-Prot
UniProt A0A6Q8PF04_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF27_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF62 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PF70_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF86_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF90_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFJ3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFK7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG49_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG59_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG61_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGB4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGC1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGL0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGM1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGP1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGP4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGW0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGW5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGY4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGY7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH92_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHA1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHB4_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHC7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHH5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHK3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHM5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHP5_HUMAN UniProtKB/TrEMBL
  FIG4_HUMAN UniProtKB/Swiss-Prot
  H0Y6G7_HUMAN UniProtKB/TrEMBL
  Q53H49 ENTREZGENE
  Q5TCS4_HUMAN UniProtKB/TrEMBL
  Q5TCS5_HUMAN UniProtKB/TrEMBL
  Q5TCS6 ENTREZGENE
  Q92562 ENTREZGENE
UniProt Secondary Q53H49 UniProtKB/Swiss-Prot
  Q5TCS6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-08-06 FIG4  FIG4 phosphoinositide 5-phosphatase  FIG4  FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-07-27 FIG4  FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)  FIG4  FIG4 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED