ClinVar Miner

Variants in gene FIG4

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
49 22 261 128 50 453

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease type 4 29 5 170 70 12 286
not provided 14 8 40 39 23 120
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 7 0 8 0 0 15
Polymicrogyria, bilateral temporooccipital 4 1 2 0 0 7
none provided 0 0 1 2 4 7
Amyotrophic lateral sclerosis 0 1 1 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
Cerebral hypomyelination 0 2 0 0 0 2
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
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 1
Failure to thrive; Abnormality of the skeletal system; Hypospadias, penile; Micropenis; Severe global developmental delay 0 1 0 0 0 1
Tremor 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 5 169 85 12 300
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 15 6 10 36
CeGaT Praxis fuer Humangenetik Tuebingen 4 5 9 3 0 21
OMIM 15 0 0 0 0 15
Inherited Neuropathy Consortium 1 0 14 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 5 3 4 13
PreventionGenetics, PreventionGenetics 0 0 0 3 9 12
Genesis Genome Database 0 0 11 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 2 3 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 5 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
Baylor Genetics 1 0 2 0 0 3
Mendelics 2 0 0 0 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Ambry Genetics 1 1 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 1 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 2 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
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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1

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