ClinVar Miner

Variants in gene GABRG2

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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
42 30 175 96 44 1 347

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epilepsy, childhood absence 2; Familial febrile seizures 8 25 13 85 52 9 0 183
not provided 10 12 35 17 14 0 85
Epilepsy, childhood absence 2 2 0 56 13 7 0 78
not specified 0 0 7 29 23 0 53
Seizures 1 0 4 5 6 0 16
Familial febrile seizures 8 5 1 0 0 2 0 8
Developmental and epileptic encephalopathy, 74 3 1 3 0 0 0 7
Inborn genetic diseases 0 2 5 0 0 0 7
Intellectual disability 0 2 1 1 0 0 4
Generalized epilepsy with febrile seizures plus 0 0 2 0 1 0 3
Rolandic epilepsy 3 0 0 0 0 0 3
See cases 3 0 0 0 0 0 3
Severe myoclonic epilepsy in infancy 0 0 2 0 0 0 2
Epilepsy, childhood absence 2; Developmental and epileptic encephalopathy, 74 1 0 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
GABRG2-Related Disorder 0 0 0 0 0 1 1
Generalized epilepsy with febrile seizures plus 3 1 0 0 0 0 0 1
Lennox-Gastaut syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 12 83 57 9 0 186
GeneDx 10 10 19 29 30 0 98
Illumina Clinical Services Laboratory,Illumina 0 0 55 13 8 0 76
Ambry Genetics 1 2 8 4 6 0 21
Athena Diagnostics Inc 1 0 4 1 7 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 7 2 0 0 11
OMIM 8 0 1 0 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 7 1 1 0 9
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 3 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 3 0 4
Baylor Genetics 0 1 2 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 2 1 0 0 0 3
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 3 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
ISCA site 1 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Mendelics 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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