ClinVar Miner

Variants studied for childhood absence epilepsy

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 not provided total
147 70 1049 796 123 10 6 2144

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CACNA1H 0 1 364 247 23 4 5 641
GABRG2 75 32 249 169 25 0 0 525
GABRA1 27 15 236 174 42 3 0 475
GABRB3 37 20 190 199 22 3 1 465
GABRA6 0 0 3 7 11 0 0 21
GABRB3, LOC126862078 2 0 2 0 0 0 0 4
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 0 0 2
GABRA1, GABRG2 1 1 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3 1 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, OCA2 1 0 0 0 0 0 0 1
GABRA1, GABRA6 0 0 1 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 1
GABRA5, GABRB3, GABRG3, HERC2, OCA2 0 0 1 0 0 0 0 1
GABRB3, LOC126862077, LOC126862078 0 0 1 0 0 0 0 1
KCNQ2 1 0 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 0 0 0 0 1
SCN1B 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 135 52 533 531 88 0 0 1339
Fulgent Genetics, Fulgent Genetics 0 1 328 247 16 0 0 592
Illumina Laboratory Services, Illumina 0 0 139 17 15 0 0 171
Baylor Genetics 1 2 17 0 0 0 0 20
New York Genome Center 0 0 20 0 0 0 0 20
OMIM 6 0 0 0 0 10 0 16
Institute of Human Genetics, University of Leipzig Medical Center 3 1 4 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 3 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 0 0 7
Mendelics 3 1 1 0 1 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 5 0 0 5
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 4 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 3 0 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 2
3billion 0 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Neurogenetics group, VIB, Antwerp, Belgium 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1

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