ClinVar Miner

Variants in gene KCNQ2

Minimum submission review status: Collection method:
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Gene type:
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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
287 128 206 238 112 1 851

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 101 73 98 117 67 1 436
Early infantile epileptic encephalopathy 46 11 93 20 1 0 170
not specified 1 0 10 104 58 0 165
Benign familial neonatal seizures 1 115 12 2 1 9 0 136
Early infantile epileptic encephalopathy 7 84 20 2 0 3 0 105
Seizures 7 10 4 22 16 0 58
KCNQ2-Related Disorders 1 1 15 25 9 0 51
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 6 3 8 0 0 0 17
Epileptic encephalopathy 4 5 0 0 0 0 9
Inborn genetic diseases 6 3 0 0 0 0 9
Benign familial neonatal seizures 2 3 0 0 0 0 0 3
Benign Rolandic epilepsy 2 0 0 0 0 0 2
See cases 2 0 0 0 0 0 2
Seizures, benign familial neonatal, 1, and/or myokymia 2 0 0 0 0 0 2
Benign familial neonatal seizures 1 0 0 0 0 0 1
Continuous spike and waves during slow-wave sleep syndrome 0 0 1 0 0 0 1
Epilepsy, benign neonatal, 1, and/or myokymia 0 1 0 0 0 0 1
Epileptic encephalopathy, early infantile, 1 1 0 0 0 0 0 1
Global developmental delay; Absent speech; Limb dystonia 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Seizures; Generalized hypotonia 1 0 0 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 100 62 59 114 84 0 419
Invitae 46 11 93 118 37 0 304
GeneReviews 172 0 0 0 5 0 177
Ambry Genetics 11 9 4 22 16 0 62
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 3 29 4 14 0 58
Illumina Clinical Services Laboratory,Illumina 0 0 15 25 9 0 49
CeGaT Praxis fuer Humangenetik Tuebingen 0 7 17 8 0 0 32
Genetic Services Laboratory, University of Chicago 2 5 5 7 7 0 26
NeuroMeGen,Hospital Clinico Santiago de Compostela 14 5 0 0 0 0 19
Athena Diagnostics Inc 2 1 5 2 6 0 16
OMIM 15 0 0 0 0 0 15
Mendelics 3 6 0 1 5 0 15
Génétique des Maladies du Développement, Hospices Civils de Lyon 10 5 0 0 0 0 15
Fulgent Genetics,Fulgent Genetics 4 1 5 0 0 0 10
PreventionGenetics,PreventionGenetics 0 0 0 1 8 0 9
Neurogenetics Laboratory - MEYER,AOU Meyer 3 3 1 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 2 1 0 0 6
Baylor Genetics 2 0 2 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 3 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Translational Oncology and Experimental Therapeutics Program-IBMCC,Consejo Superior de Investigaciones Científicas 1 0 0 0 0 0 1

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