ClinVar Miner

Variants in gene KCNQ2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
612 380 793 738 180 223 2457

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early-infantile DEE 351 100 539 583 52 0 1625
not provided 190 113 256 175 129 73 838
Developmental and epileptic encephalopathy, 7 93 91 40 0 3 67 254
Inborn genetic diseases 29 15 78 72 19 0 213
not specified 1 0 31 105 69 0 197
Seizures, benign familial neonatal, 1 70 31 12 1 7 89 193
Developmental and epileptic encephalopathy 49 11 27 2 0 0 89
Complex neurodevelopmental disorder 0 0 1 0 0 82 83
KCNQ2-Related Disorders 24 15 10 18 6 3 73
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 13 31 20 3 0 1 66
Seizure 22 14 2 0 0 0 38
Epileptic encephalopathy 4 5 0 0 0 0 9
Intellectual disability 2 4 2 1 0 0 9
See cases 3 2 3 0 0 0 8
Developmental and epileptic encephalopathy, 1 3 1 0 0 0 1 5
Neonatal encephalopathy 1 1 2 0 0 0 4
Autism spectrum disorder 0 0 1 2 0 0 3
Seizures, benign familial neonatal, 2 1 0 0 0 0 2 3
Benign Rolandic epilepsy 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 1 0 0 0 0 2
Seizures, benign familial neonatal, 1, and/or myokymia 2 0 0 0 0 0 2
Autosomal dominant epilepsy 0 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 10 1 0 0 0 0 0 1
Benign neonatal seizures 0 0 0 0 0 1 1
Continuous spike and waves during slow sleep 0 0 1 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 1 0 0 0 1
Early-infantile developmental and epileptic encephalopathy 1 0 0 0 0 0 1
Epicanthus; Autistic behavior; Seizure; Abnormal facial shape; Moderate intellectual disability 0 1 0 0 0 0 1
Epilepsy 1 0 0 0 0 0 1
Epilepsy of infancy with migrating focal seizures 1 0 0 0 0 0 1
Epilepsy, benign neonatal, 1, and/or myokymia 0 1 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Global developmental delay; Absent speech; Limb dystonia 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Neonatal/infantile epilepsy syndrome 1 0 0 0 0 0 1
Paroxysmal central nervous system disorders 0 0 0 1 0 0 1
Sarcoma 0 0 0 0 0 1 1
Seizure; Generalized hypotonia 1 0 0 0 0 0 1
Severe intellectual deficiency 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
West syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 137
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 400 111 566 588 52 0 1717
GeneDx 163 69 154 160 155 0 701
Ambry Genetics 29 15 78 72 19 0 213
CeGaT Center for Human Genetics Tuebingen 40 22 58 80 9 0 209
GeneReviews 12 0 0 0 0 162 174
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 84 84
Eurofins Ntd Llc (ga) 8 3 29 4 14 0 58
PreventionGenetics, part of Exact Sciences 9 3 9 19 14 0 54
Breakthrough Genomics, Breakthrough Genomics 0 0 0 18 33 0 51
Génétique des Maladies du Développement, Hospices Civils de Lyon 32 15 0 0 0 0 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 21 19 0 0 45
Revvity Omics, Revvity 11 6 22 0 0 0 39
3billion 12 17 8 0 0 0 37
Institute of Human Genetics, University of Leipzig Medical Center 20 16 0 0 0 0 36
Genetic Services Laboratory, University of Chicago 3 5 5 5 9 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 23 1 3 0 0 0 27
Athena Diagnostics 2 4 6 3 11 0 26
Mayo Clinic Laboratories, Mayo Clinic 4 4 6 5 7 0 26
Mendelics 11 6 0 1 3 0 21
Center for Molecular Medicine, Children’s Hospital of Fudan University 4 17 0 0 0 0 20
Fulgent Genetics, Fulgent Genetics 5 3 9 2 0 0 19
NeuroMeGen, Hospital Clinico Santiago de Compostela 14 5 0 0 0 0 19
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 3 1 0 1 13 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 4 4 5 0 17
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 8 0 0 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 7 1 0 3 5 0 16
Neuberg Centre For Genomic Medicine, NCGM 6 3 7 0 0 0 16
OMIM 15 0 0 0 0 0 15
Baylor Genetics 8 2 3 0 0 0 12
Diagnostic Laboratory, Strasbourg University Hospital 3 6 3 0 0 0 12
MGZ Medical Genetics Center 3 5 2 0 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 2 1 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 7 0 0 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 4 3 1 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 1 0 0 3 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 2 5 1 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 2 5 0 0 8
Center of Excellence for Medical Genomics, Chulalongkorn University 7 1 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 3 2 0 7
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 2 1 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 5 0 0 0 7
Illumina Laboratory Services, Illumina 3 3 1 0 0 0 7
MVZ Martinsried, Medicover Genetics 2 4 1 0 0 0 7
Neurogenetics Laboratory - MEYER, AOU Meyer 3 3 1 0 0 0 7
New York Genome Center 0 0 7 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 1 2 1 0 0 6
Dasa 5 1 0 0 0 0 6
Institute of Human Genetics Munich, TUM University Hospital 3 3 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 2 1 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 5
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 5 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 0 0 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 0 2 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 2 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 1 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 0 1 3 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 3 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 2 0 0 4
Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia of Catanzaro 2 2 0 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 1 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
Pediatrics, West China Second University Hospital, Sichuan University 1 2 1 0 0 0 4
The International Centre for Genetic Engineering and Biotechnology China Regional Research Centre 1 1 2 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 2 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 2 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 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
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 0 1
Cipher Gene Genetics Laboratory, Cipher Gene, Inc 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Population and Medical Genomics Lab, Sidra Medicine 1 0 0 0 0 0 1
Rare Disease Center, Seoul National University Hospital 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Translational Oncology and Experimental Therapeutics Program-IBMCC, Consejo Superior de Investigaciones Científicas 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1

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