ClinVar Miner

Variants in gene CNTNAP2

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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
109 64 1039 755 188 28 1975

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cortical dysplasia-focal epilepsy syndrome 78 36 753 617 65 4 1504
not provided 21 18 377 173 121 1 678
Inborn genetic diseases 9 0 227 80 11 0 327
not specified 4 0 71 97 75 0 206
CNTNAP2-related disorder 0 0 19 28 4 0 51
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2 7 37 3 0 0 49
See cases 2 5 22 2 0 0 31
Autism, susceptibility to, 15 5 1 3 0 0 0 9
Intellectual disability 0 1 3 3 0 0 7
Lung cancer 0 0 0 0 0 7 7
Self-limited epilepsy with centrotemporal spikes 6 0 0 0 0 0 6
Cervical cancer 0 0 0 0 0 5 5
Autism spectrum disorder 0 1 2 1 0 0 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Lymphoma 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Schizophrenia 0 0 2 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Autism spectrum disorder; Epilepsy; Intellectual disability 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Diaphragmatic hernia 0 0 1 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Hyperactivity; Seizure; Focal-onset seizure; Gait imbalance 0 0 0 1 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Pitt-Hopkins-like syndrome 1 0 0 0 0 0 1
Small for gestational age 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
VATER association 0 0 0 1 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
Labcorp Genetics (formerly Invitae), Labcorp 59 23 640 610 49 0 1381
GeneDx 13 12 279 162 160 0 626
Ambry Genetics 9 0 227 80 11 0 327
Illumina Laboratory Services, Illumina 0 0 115 12 30 0 157
Eurofins Ntd Llc (ga) 1 0 75 8 19 0 103
Breakthrough Genomics, Breakthrough Genomics 0 0 11 28 42 0 81
Genetic Services Laboratory, University of Chicago 0 0 41 26 10 0 77
PreventionGenetics, part of Exact Sciences 0 0 19 31 22 0 72
CeGaT Center for Human Genetics Tuebingen 2 2 25 37 2 0 68
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 23 17 0 0 52
Fulgent Genetics, Fulgent Genetics 2 7 32 3 0 0 44
Athena Diagnostics 0 0 14 6 17 0 37
Mayo Clinic Laboratories, Mayo Clinic 0 1 12 3 18 0 34
Revvity Omics, Revvity 1 0 25 1 0 0 27
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 23 1 0 0 24
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 22 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 10 10 0 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 12 0 19
Baylor Genetics 0 0 17 0 0 0 17
St. Anna Children's Cancer Research Institute (CCRI) 6 3 6 0 0 0 15
ISCA site 1 0 2 12 0 0 0 14
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 4 0 6 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 5 0 10
New York Genome Center 0 1 9 0 0 0 10
OMIM 9 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 0 7
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 6 0 0 0 0 0 6
Bionano Laboratories 4 0 2 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
3billion 4 0 1 0 0 0 5
ISCA site 4 0 0 4 1 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 1 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 1 2 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Diagnostic Laboratory, Strasbourg University Hospital 0 1 2 0 0 0 3
ISCA Site 6 0 1 1 1 0 0 3
Mendelics 1 0 0 0 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 2
Department of Psychiatry, The University of Hong Kong 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 1 0 0 0 1
Escayg Lab, Department of Human Genetics, Emory University 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Geschwind lab, University of California Los Angeles 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Liping Wei Laboratory, Peking University 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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