ClinVar Miner

Variants in gene CHD2

See also:
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
278 152 1009 1010 194 55 2480

Condition and significance breakdown #

Total conditions: 46
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy 94 209 108 776 803 83 6 1940
not provided 73 26 277 216 143 3 708
Inborn genetic diseases 21 9 57 97 18 0 202
not specified 1 0 29 94 53 0 173
CHD2-related disorder 3 4 11 30 5 2 54
Intellectual disability 6 7 2 3 1 0 18
Ovarian serous cystadenocarcinoma 0 0 0 0 0 12 12
Malignant tumor of esophagus 0 0 0 0 0 7 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Complex neurodevelopmental disorder 2 2 0 2 0 0 6
Gastric cancer 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 5 5
Seizure 3 1 0 1 0 0 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Autism spectrum disorder 1 1 0 2 0 0 4
Sarcoma 0 0 0 0 0 4 4
Self-limited epilepsy with centrotemporal spikes 4 0 0 0 0 0 4
Thymoma 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Epilepsy 2 0 0 0 0 0 2
Epilepsy with myoclonic atonic seizures 1 1 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Neurodevelopmental disorder 1 1 0 0 0 0 2
See cases 0 0 2 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Autistic behavior; Seizure 1 0 0 0 0 0 1
CHD2-related neurodevelopmental disorder 1 0 0 0 0 0 1
Cleft lip/palate 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 0 0 0 1 1
Developmental disorder 0 0 0 1 0 0 1
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormal pinna morphology; Microcephaly; Sparse and thin eyebrow; Abnormal optic nerve morphology; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Secondary microcephaly 0 0 0 1 0 0 1
History of neurodevelopmental disorder 1 0 0 0 0 0 1
Lennox-Gastaut syndrome 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Neurodevelopmental delay 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1
Sifrim-Hitz-Weiss syndrome 1 0 0 0 0 0 1
Speech and developmental delay 0 1 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 119
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 178 40 716 791 77 0 1802
GeneDx 59 16 215 221 148 0 659
Ambry Genetics 22 9 57 97 18 0 203
CeGaT Center for Human Genetics Tuebingen 10 5 49 75 9 0 148
Breakthrough Genomics, Breakthrough Genomics 0 0 1 22 48 0 71
PreventionGenetics, part of Exact Sciences 3 4 11 31 16 0 65
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 46 46
Athena Diagnostics 1 0 6 5 21 0 33
Revvity Omics, Revvity 2 0 26 2 0 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 13 11 0 0 27
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 1 0 0 23 0 25
Institute of Human Genetics, University of Leipzig Medical Center 5 5 7 4 0 0 21
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 1 12 0 15
Fulgent Genetics, Fulgent Genetics 2 0 7 4 0 0 13
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 5 1 1 0 0 12
Mendelics 4 2 6 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 4 6 0 0 0 12
3billion 3 7 1 0 0 0 11
Baylor Genetics 1 2 7 0 0 0 10
Diagnostic Laboratory, Strasbourg University Hospital 4 6 0 0 0 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 2 8 0 0 0 10
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 5 0 9
Genetic Services Laboratory, University of Chicago 0 0 5 2 2 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 1 2 0 1 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 1 3 0 0 7
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 2 0 3 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 2 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 2 5 0 0 0 0 7
New York Genome Center 0 3 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 2 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 2 0 0 0 0 5
Variantyx, Inc. 3 2 0 0 0 0 5
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 4 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 1 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 1 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 4
GenomeConnect - Simons Searchlight 2 2 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 2 0 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Pediatrics, MediClubGeorgia 0 3 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 2 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 2 0 0 0 3
Blueprint Genetics 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Dasa 2 0 0 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Next Generation Genetic Polyclinic 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Center of Medical Genomics-TUH, Thammasat University 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.