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
85 65 232 32 6 37 4 449

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CHD8 37 30 63 5 0 9 1 141
MECP2 15 5 32 13 1 3 0 66
TBR1 13 6 26 1 2 0 0 48
CNTNAP2 0 1 37 3 0 3 0 44
SHANK2 7 9 19 4 0 3 0 40
PTCHD1 1 6 15 0 0 3 0 25
NLGN4X 2 1 11 2 0 3 0 18
TMLHE 1 1 5 0 0 4 2 12
NLGN3 1 3 4 0 1 1 0 10
SLC9A9 0 0 4 1 0 1 0 6
NLGN1 0 0 1 0 0 3 0 4
CNTNAP2, LOC126860216 0 0 3 0 0 0 0 3
RPL10 0 0 1 0 0 2 0 3
CHD8, LOC126861888 0 0 2 0 0 0 1 2
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 1 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: 88
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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 12 0 4 0 0 37 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 2 6 0 2 0 0 15
New York Genome Center 0 0 14 0 0 0 0 14
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 4 5 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 3 3 6 0 0 0 0 12
Centogene AG - the Rare Disease Company 1 0 9 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 5 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 7 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 7 1 0 0 0 9
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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 3 2 0 0 0 0 7
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
Institute of Human Genetics, University of Goettingen 1 2 2 0 0 0 0 5
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 3 0 0 0 0 5
3billion 1 3 1 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
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
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 2 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 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
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
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Department of Human Genetics, Hannover Medical School 0 0 2 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 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 Program, Stanford Medicine 0 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Department of Laboratory Medicine, 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
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1

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