ClinVar Miner

Variants in gene CNTNAP2

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 risk factor not provided total
37 18 487 252 153 3 1 829

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 14 8 234 126 85 0 0 435
Pitt-Hopkins-like syndrome 1 18 1 251 34 31 0 0 334
not specified 0 0 39 103 74 0 0 182
Pitt-Hopkins-like syndrome 0 0 102 20 26 0 0 148
History of neurodevelopmental disorder 1 0 39 39 8 0 0 87
See cases 2 6 30 4 0 0 0 42
Autism 15; Pitt-Hopkins-like syndrome 1 0 0 25 0 0 0 0 25
Rolandic epilepsy 6 0 0 0 0 0 0 6
Autism 15 0 0 0 0 0 3 0 3
Autism spectrum disorder 0 1 1 0 0 0 0 2
Autistic disorder of childhood onset 0 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease 0 0 1 0 0 0 0 1
Hyperactivity; Seizures; Focal seizures; Gait imbalance 0 0 0 1 0 0 0 1
Schizoaffective disorder, depressive type 0 1 0 0 0 0 0 1
Small for gestational age 0 0 0 0 0 0 1 1
VATER association 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 10 7 176 102 102 0 0 397
Invitae 9 0 152 113 27 0 0 301
Illumina Clinical Services Laboratory,Illumina 0 0 102 20 26 0 0 148
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 76 8 20 0 0 105
Ambry Genetics 1 0 39 39 8 0 0 87
Genetic Services Laboratory, University of Chicago 0 0 35 24 8 0 0 66
Athena Diagnostics Inc 0 0 11 5 13 0 0 29
PreventionGenetics,PreventionGenetics 0 0 0 4 18 0 0 22
Fulgent Genetics,Fulgent Genetics 0 0 21 0 0 0 0 21
ISCA site 1 1 4 15 0 0 0 0 20
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 14 0 0 15
OMIM 7 0 0 0 0 3 0 10
Lineagen Inc. 4 0 2 0 0 0 0 6
ISCA site 4 0 0 5 1 0 0 0 6
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 6 0 0 0 0 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 2 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 1 0 0 0 4
Mendelics 1 0 0 0 2 0 0 3
ISCA site 6 0 1 1 1 0 0 0 3
Department of Psychiatry,Nagoya University 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
ISCA site 14 0 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics,University Hospital Bonn 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 1 0 0 0 0 1
Liping Wei Laboratory,Peking University 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.