ClinVar Miner

Variants in gene FIG4

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
41 16 229 112 50 395

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease type 4 21 4 135 42 12 214
not provided 12 8 39 38 23 116
Charcot-Marie-Tooth disease 3 0 40 37 15 94
Charcot-Marie-Tooth disease, type 4J 10 1 39 2 16 68
Amyotrophic lateral sclerosis type 11 7 1 32 10 20 67
not specified 1 0 8 26 15 46
Yunis-Varon syndrome 5 0 2 0 0 7
Amyotrophic lateral sclerosis 0 1 2 1 0 3
Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease, type 4J 0 0 0 0 3 3
FIG4-Related Disorders 0 1 2 0 0 3
Polymicrogyria, bilateral temporooccipital 2 0 1 0 0 3
Inborn genetic diseases 1 1 0 0 0 2
Amyotrophic Lateral Sclerosis, Dominant 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 11; Polymicrogyria, bilateral temporooccipital; Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome 1 0 0 0 0 1
Autistic behavior; Abnormal facial shape; Absent speech 1 0 0 0 0 1
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 1
Cerebellar atrophy; Limb ataxia; Lower limb muscle weakness 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 1
Congenital cerebellar hypoplasia; Cerebellar ataxia; Strabismus; Osteoporosis; Cerebellar vermis hypoplasia; Intention tremor; Delayed gross motor development; Recurrent fractures; Reduced bone mineral density; Atrophy of the dentate nucleus; Speech articulation difficulties; Delayed fine motor development; Cerebellar hemisphere hypoplasia 0 1 0 0 0 1
Difficulty walking; EMG abnormality; Sensory impairment; Distal lower limb muscle weakness 0 0 1 0 0 1
Global developmental delay; Failure to thrive; Abnormal facial shape; Generalized hypotonia 1 0 0 0 0 1
Global developmental delay; Large for gestational age 0 0 1 0 0 1
Hypomimic face; Resting tremor; Action tremor; Hand tremor 0 0 1 0 0 1
SCHIZENCEPHALY; Seizures; Micrognathia; Intellectual disability; Ventriculomegaly; Gray matter heterotopias 0 0 1 0 0 1
Teeth, supernumerary; Abnormality of the clavicle; Congenital pseudoarthrosis of the clavicle; Aplasia/Hypoplasia of the clavicles 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 4 134 68 12 239
GeneDx 8 3 16 24 23 74
Molecular Genetics Laboratory,London Health Sciences Centre 2 0 17 37 15 71
Illumina Clinical Services Laboratory,Illumina 1 1 41 12 20 61
Athena Diagnostics Inc 4 1 14 6 9 34
CeGaT Praxis fuer Humangenetik Tuebingen 4 5 9 2 0 20
OMIM 15 0 0 0 0 15
Inherited Neuropathy Consortium 1 0 14 0 0 15
PreventionGenetics,PreventionGenetics 0 0 0 3 9 12
Genesis Genome Database 0 0 11 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 4 1 4 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 2 3 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 6 0 0 7
Weber Lab,Hannover Medical School 2 1 3 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 0 1 1 2 0 4
Mendelics 2 0 0 0 1 3
Ambry Genetics 1 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1

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