ClinVar Miner

Variants studied for autism, susceptiblity to

Included ClinVar conditions (22):
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
101 79 258 34 6 28 4 496

Gene and significance breakdown #

Total genes and gene combinations: 35
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CHD8 46 33 70 5 0 0 1 153
MECP2 16 8 33 13 1 3 0 70
TBR1 16 7 29 2 2 0 0 55
CNTNAP2 1 1 37 3 0 3 0 45
SHANK2 7 13 20 4 0 3 0 45
PTCHD1 2 7 18 1 0 3 0 31
NLGN4X 3 1 18 2 0 3 0 25
TMLHE 1 1 6 0 0 4 2 13
NLGN3 1 3 6 0 1 1 0 12
SLC9A9 0 0 4 1 0 1 0 6
NLGN1 0 0 2 0 0 3 0 5
CHD8, LOC126861888 0 1 2 0 0 0 1 3
CNTNAP2, LOC126860216 0 0 3 0 0 0 0 3
RPL10 0 0 1 0 0 2 0 3
EN2 0 0 2 0 0 0 0 2
FRMPD4 0 0 0 2 0 0 0 2
HCFC1 0 0 2 0 0 0 0 2
KCTD3 0 0 2 0 0 0 0 2
LOC129935026, TBR1 1 2 0 0 0 0 0 2
LOC130068854, MECP2 0 0 0 1 1 0 0 2
CHD8, METTL3, OR10G3, RAB2B, SALL2, SUPT16H, TOX4 1 0 0 0 0 0 0 1
CHD8, SNORD8, SNORD9 1 0 0 0 0 0 0 1
CLCN3 1 0 0 0 0 0 0 1
COMETT, MET 0 0 1 0 0 0 0 1
DEAF1 1 0 0 0 0 0 0 1
DHX30 1 0 0 0 0 0 0 1
EFHC2 0 0 0 0 1 0 0 1
EIF4E 0 0 0 0 0 1 0 1
GLO1 0 0 1 0 0 0 0 1
HUWE1 0 1 0 0 0 0 0 1
KMT2C 1 0 0 0 0 0 0 1
SCFD2 0 1 0 0 0 0 0 1
SMARCA1 0 0 1 0 0 0 0 1
SPRY3, TMLHE 0 0 0 0 0 1 0 1
TRPC4 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 94
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 5 1 42 20 2 0 0 70
OMIM 22 0 4 0 0 28 0 52
Revvity Omics, Revvity 1 3 33 0 0 0 0 37
RettBASE 4 0 23 1 0 0 0 28
Baylor Genetics 5 3 14 0 0 0 0 22
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 9 2 1 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 0 8 0 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 2 6 0 2 0 0 15
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 5 6 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 2 9 0 0 0 0 14
New York Genome Center 0 0 14 0 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 3 0 0 0 0 11
Centogene AG - the Rare Disease Company 1 0 9 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 8 1 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 7 0 0 0 0 10
Molecular Genetics Lab, CHRU Brest 2 1 5 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 2 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 4 0 0 0 0 7
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 5 0 0 0 0 7
3billion 1 3 1 2 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 0 7 0 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 3 2 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 1 3 2 0 0 0 0 6
Mendelics 3 1 1 1 0 0 0 6
Qatar Biomedical Research Institute, Hamad Bin Khalifa University 5 1 0 0 0 0 0 6
MVZ Medizinische Genetik Mainz 1 1 4 0 0 0 0 6
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 3 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 3 0 0 0 0 5
MGZ Medical Genetics Center 2 0 2 0 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 1 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 1 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 0 0 2
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 1 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 0 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 2
Department Of Gynecology And Obstetrics, Second Affiliated Hospital of Chongqing Medical University 0 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 0 1
Molecular and Human Genetics, Karnataka Institute for DNA Research 1 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 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.