ClinVar Miner

Variants in gene CDKL5

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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
313 86 164 128 57 31 684

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 71 13 93 45 26 0 248
not provided 107 24 50 25 8 30 239
Early infantile epileptic encephalopathy 2 134 37 23 5 1 0 191
not specified 0 0 14 64 40 0 110
Atypical Rett syndrome 43 5 4 0 0 0 51
History of neurodevelopmental disorder 3 0 3 9 5 0 20
Inborn genetic diseases 6 2 1 0 0 0 9
See cases 4 1 0 0 0 0 5
West syndrome 0 4 0 1 0 0 5
Epileptic encephalopathy 4 0 0 0 0 0 4
Autistic disorder of childhood onset 1 0 1 0 0 0 2
Rett syndrome 1 1 0 0 0 0 2
Angelman syndrome 1 0 0 0 0 0 1
Angelman syndrome; Early infantile epileptic encephalopathy 2 0 0 0 0 0 1 1
CDKL5-related disorder 0 1 0 0 0 0 1
Early infantile epileptic encephalopathy 4 1 0 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; Seizures; Stereotypy; 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
Seizures 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 13 93 51 27 0 255
GeneDx 79 16 23 58 12 0 188
RettBASE 113 15 11 10 31 30 182
Genetic Services Laboratory, University of Chicago 21 3 15 3 9 0 51
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 10 1 15 2 9 0 37
Ambry Genetics 9 2 4 9 5 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 8 5 10 1 0 0 24
Mendelics 9 4 0 2 1 0 16
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
Institute of Human Genetics, University of Leipzig Medical Center 7 5 2 0 0 0 14
Génétique des Maladies du Développement, Hospices Civils de Lyon 7 3 0 0 0 0 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 4 0 3 0 2 0 9
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
Baylor Genetics 1 1 3 0 0 0 5
Athena Diagnostics Inc 1 0 0 1 3 0 5
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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 1 0 0 0 2 0 3
PreventionGenetics, PreventionGenetics 0 0 0 2 1 0 3
Fulgent Genetics,Fulgent Genetics 1 0 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
Undiagnosed Diseases Network,NIH 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
ISCA site 1 1 1 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Lineagen, Inc 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
Diagnostic Laboratory, Strasbourg University Hospital 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Genomic Medicine,Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1

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