ClinVar Miner

Variants in gene CDKL5

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Minimum submission review status: Collection method:
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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
411 144 309 339 121 31 1182

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 165 34 177 237 74 0 687
not provided 120 33 93 68 30 30 360
Developmental and epileptic encephalopathy, 2 151 61 42 6 2 0 249
not specified 0 0 18 56 39 0 107
Inborn genetic diseases 14 3 21 16 4 0 58
CDKL5 disorder 9 9 8 14 17 0 57
Atypical Rett syndrome 40 5 3 0 0 0 47
CDKL5-related condition 4 0 6 10 3 0 23
West syndrome 1 5 0 1 0 0 7
History of neurodevelopmental disorder 0 0 0 4 2 0 6
Epileptic encephalopathy 4 1 0 0 0 0 5
See cases 4 1 0 0 0 0 5
Autism 1 1 1 0 0 0 3
Rett syndrome 1 1 0 0 0 0 2
Seizure 1 0 0 1 0 0 2
Abnormal cerebral morphology 0 0 1 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 0 1
Angelman syndrome 1 0 0 0 0 0 1
Angelman syndrome; Developmental and epileptic encephalopathy, 2 0 0 0 0 0 1 1
CDKL5-related disorder 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 0 0 1
Developmental delay 0 1 0 0 0 0 1
Early infantile epileptic encephalopathy with suppression bursts 1 0 0 0 0 0 1
Epileptic encephalopathy; Developmental delay 0 1 0 0 0 0 1
Focal epilepsy 1 0 0 0 0 0 1
Global developmental delay; Seizure; Stereotypic movement disorder; Delayed speech and language development; Generalized hypotonia; Bruxism; Stereotypical hand wringing; Stereotypical body rocking 1 0 0 0 0 0 1
Infantile spasms 0 0 1 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 165 34 177 240 74 0 690
GeneDx 89 24 60 91 37 0 301
RettBASE 107 15 10 10 29 30 173
Ambry Genetics 14 3 21 20 6 0 64
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 9 9 8 14 17 0 57
Genetic Services Laboratory, University of Chicago 23 4 15 3 8 0 53
CeGaT Center for Human Genetics Tuebingen 14 5 17 12 0 0 48
Eurofins Ntd Llc (ga) 10 1 15 2 9 0 37
PreventionGenetics, part of Exact Sciences 4 0 6 12 4 0 26
Mendelics 16 5 1 2 1 0 25
Institute of Human Genetics, University of Leipzig Medical Center 9 6 2 0 0 0 17
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 2 3 0 0 0 16
OMIM 14 0 0 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 4 0 1 0 0 13
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 4 0 3 0 2 0 9
Revvity Omics, Revvity 3 1 5 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 0 4 3 0 9
Baylor Genetics 1 2 5 0 0 0 8
3billion 1 4 3 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 7 0 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 4 1 1 0 0 7
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 6 0 0 0 0 6
Athena Diagnostics Inc 1 0 0 1 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 1 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 2 1 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 4 0 0 0 0 0 4
Undiagnosed Diseases Network, NIH 2 2 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 0 4
Department of Laboratory Medicine, Yonsei University College of Medicine 1 3 0 0 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 1 0 0 0 2 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 1 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
ISCA site 1 1 1 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
New York Genome Center 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 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
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1

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