ClinVar Miner

Variants in gene CNTNAP2

Minimum submission review status: Collection method:
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Gene type:
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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
29 15 452 180 109 3 1 686

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Pitt-Hopkins-like syndrome 1 14 0 207 72 53 0 0 334
not provided 10 6 228 2 18 0 0 264
not specified 0 0 40 103 74 0 0 183
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 10 7 176 74 59 0 0 326
Invitae 7 0 109 52 26 0 0 194
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 9 4 13 0 0 26
PreventionGenetics 0 0 0 4 18 0 0 22
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
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
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, Inc. 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
ISCA site 6 0 1 1 1 0 0 0 3
Department of Psychiatry,Nagoya University 0 1 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
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
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

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