ClinVar Miner

Variants in gene GABRA1

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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 risk factor total
17 31 190 102 43 4 348

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 5 6 65 47 12 0 135
Epilepsy, juvenile myoclonic 5 0 0 86 4 8 3 101
not provided 8 15 29 19 15 0 81
not specified 0 0 4 43 21 0 65
Epileptic encephalopathy, early infantile, 19 9 7 4 0 0 0 19
Seizures 1 0 4 9 3 0 17
Juvenile myoclonic epilepsy 0 2 6 0 0 0 8
Epilepsy, juvenile myoclonic 5; Epileptic encephalopathy, early infantile, 19 1 1 1 0 0 0 3
Inborn genetic diseases 1 1 1 0 0 0 3
Intellectual disability 0 2 0 0 0 0 2
Epilepsy, childhood absence 4 0 0 0 0 0 1 1
Intractable seizure 0 0 1 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
See cases 0 0 0 1 0 0 1
Sensorineural hearing loss; Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 5 6 65 54 14 0 144
Illumina Clinical Services Laboratory,Illumina 0 0 92 4 8 0 104
GeneDx 8 12 13 42 25 0 100
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 12 2 4 0 19
Ambry Genetics 1 1 3 9 3 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 7 5 0 0 15
OMIM 4 0 0 0 0 4 8
Genetic Services Laboratory, University of Chicago 0 0 2 3 1 0 6
PreventionGenetics, PreventionGenetics 0 0 0 1 5 0 6
Athena Diagnostics Inc 0 1 1 0 3 0 5
Mendelics 1 2 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
ISCA site 1 0 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Genatak 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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