ClinVar Miner

Variants in gene AARS1

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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
8 10 328 162 52 1 514

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, type 2 2 0 241 82 27 0 352
not provided 1 8 67 58 22 0 147
Charcot-Marie-Tooth disease, type 2N 2 1 43 22 24 1 87
not specified 0 0 3 50 9 0 60
Charcot-Marie-Tooth disease 2 0 31 0 0 0 32
none provided 0 0 4 2 5 0 11
Epileptic encephalopathy, early infantile, 29 4 1 4 0 0 0 8
Charcot-Marie-Tooth disease, type 2N; Epileptic encephalopathy, early infantile, 29 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease, type I 0 0 2 0 0 0 2
See cases 0 0 2 0 0 0 2
Clubfoot; Gait disturbance; Impaired vibration sensation in the lower limbs; Shuffling gait; Distal muscle weakness; EMG: neuropathic changes; Progressive distal muscular atrophy; Foot dorsiflexor weakness 0 0 1 0 0 0 1
Distal spinal muscular atrophy 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 241 103 29 0 375
GeneDx 0 4 46 54 20 0 124
Illumina Clinical Services Laboratory,Illumina 0 0 38 18 24 0 80
Molecular Genetics Laboratory,London Health Sciences Centre 1 0 23 0 0 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 15 9 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 3 9 0 17
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 0 4 0 10
Genesis Genome Database 0 0 8 0 0 0 8
OMIM 4 0 1 0 0 0 5
Baylor Genetics 0 0 5 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 2 0 0 4
Mendelics 0 0 0 1 2 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 3 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Inherited Neuropathy Consortium 0 0 3 0 0 0 3
Institute of Human Genetics,Cologne University 0 2 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1

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