ClinVar Miner

Variants in gene KCNQ2

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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 not provided total
365 179 347 263 110 2 1125

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy with suppression bursts 126 46 257 131 36 0 596
not provided 112 74 103 76 34 1 384
not specified 1 0 10 104 59 0 166
Benign familial neonatal seizures 1 119 15 3 1 9 0 144
Early infantile epileptic encephalopathy 7 90 34 13 0 3 0 135
Seizures 10 11 4 22 16 0 62
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 6 6 8 0 0 0 20
Inborn genetic diseases 9 2 0 0 0 0 11
Epileptic encephalopathy 4 5 0 0 0 0 9
Intellectual disability 2 4 2 0 0 0 8
KCNQ2-Related Disorders 3 3 0 0 0 1 7
Epileptic encephalopathy, early infantile, 1 4 1 0 0 0 0 5
Benign familial neonatal seizures 2 3 0 0 0 0 0 3
See cases 3 0 0 0 0 0 3
Benign Rolandic epilepsy 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
Epicanthus; Autistic behavior; Seizures; Abnormal facial shape; Intellectual disability, moderate 0 1 0 0 0 0 1
Epilepsy, benign neonatal, 1, and/or myokymia 0 1 0 0 0 0 1
Global developmental delay; Absent speech; Limb dystonia 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 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
none provided 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 126 46 257 161 37 0 627
GeneDx 100 62 59 114 84 0 419
GeneReviews 172 0 0 0 5 0 177
CeGaT Praxis fuer Humangenetik Tuebingen 24 8 23 13 0 0 68
Ambry Genetics 14 8 4 22 16 0 64
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 3 29 4 14 0 58
Genetic Services Laboratory, University of Chicago 2 5 5 7 7 0 26
Génétique des Maladies du Développement, Hospices Civils de Lyon 18 6 0 0 0 0 24
Athena Diagnostics Inc 2 1 5 2 9 0 19
NeuroMeGen,Hospital Clinico Santiago de Compostela 14 5 0 0 0 0 19
OMIM 15 0 0 0 0 0 15
Mendelics 3 6 0 1 5 0 15
Institute of Human Genetics, University of Leipzig Medical Center 3 9 1 0 0 0 13
Fulgent Genetics,Fulgent Genetics 4 1 5 0 0 0 10
Baylor Genetics 5 0 4 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 1 8 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 7 0 0 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 2 1 0 0 0 6
Diagnostic Laboratory, Strasbourg University Hospital 2 3 1 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 4 0 0 0 0 6
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 3 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 0 0 0 0 3
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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Mayo Clinic 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
Illumina Clinical Services Laboratory,Illumina 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Cipher Gene Genetics Laboratory,Cipher Gene, Inc 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 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
Breda Genetics srl 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

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