ClinVar Miner

Variants in gene GARS1

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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 not provided total
21 13 236 123 72 1 393

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, type 2 6 6 152 56 22 0 242
not provided 3 3 39 36 42 0 116
Distal spinal muscular atrophy 0 0 31 8 39 0 78
Charcot-Marie-Tooth disease type 2D 6 2 29 16 24 0 76
Distal hereditary motor neuronopathy type 5 6 1 22 6 39 0 73
Charcot-Marie-Tooth disease 2 1 26 29 13 0 70
not specified 0 0 8 40 20 0 63
Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 0 1 3 0 4 1 9
none provided 0 0 0 2 3 0 5
Peripheral axonal neuropathy 0 0 2 2 0 0 4
Spinal muscular atrophy, infantile, James type 4 0 0 0 0 0 4
GARS-associated growth retardation and developmental delay 2 0 0 0 0 0 2
See cases 0 0 2 0 0 0 2
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 5 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 0 1
GARS-Associated Axonal Neuropathy 0 0 1 0 0 0 1
GARS1-related neuropathies 0 0 1 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Motor neuron disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 6 150 63 23 0 248
GeneDx 1 2 23 39 34 0 99
Illumina Clinical Services Laboratory,Illumina 0 0 31 22 39 0 73
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 6 28 12 0 46
Athena Diagnostics Inc 1 0 8 5 19 0 33
Inherited Neuropathy Consortium 2 1 16 1 0 0 20
PreventionGenetics, PreventionGenetics 0 0 0 7 11 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 13 3 0 0 17
OMIM 13 0 0 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 2 9 0 12
Genesis Genome Database 0 0 12 0 0 0 12
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 5 1 2 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 3 3 0 6
Baylor Genetics 1 1 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 1 0 3
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Antonellis Laboratory at Michigan,University of Michigan 2 0 0 0 0 0 2
Ambry Genetics 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 1 0 1
Department of Neurology,Hospital Garcia de Orta 0 1 0 0 0 0 1

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