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
25 21 105 79 42 1 240

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 10 12 33 29 23 0 101
Epilepsy, childhood absence 2; Familial febrile seizures 8 5 8 39 6 0 0 57
Generalized epilepsy with febrile seizures plus 0 0 31 17 5 0 53
Severe myoclonic epilepsy in infancy 0 0 31 17 5 0 53
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
Inborn genetic diseases 0 1 5 0 0 0 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 3 0 0 0 0 0 3
Epilepsy, childhood absence 2 2 0 1 0 0 0 3
Rolandic epilepsy 3 0 0 0 0 0 3
See cases 3 0 0 0 0 0 3
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 10 10 19 29 30 0 98
Invitae 5 7 37 31 9 0 89
Illumina Clinical Services Laboratory,Illumina 0 0 31 17 5 0 53
Ambry Genetics 1 1 8 4 6 0 20
Athena Diagnostics Inc 1 0 4 1 7 0 13
OMIM 8 0 1 0 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 7 1 1 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 3 0 0 0 4
PreventionGenetics,PreventionGenetics 0 0 0 1 3 0 4
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
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
ISCA site 1 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
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
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

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