ClinVar Miner

Variants studied for autism spectrum disorder due to AUTS2 deficiency

Included ClinVar conditions (2):
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 not provided total
31 18 67 10 1 3 125

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AUTS2 26 17 63 10 1 3 115
AUTS2, LOC129998550 0 0 3 0 0 0 3
​intergenic 0 0 1 0 0 0 1
AUTS2, CT66 1 0 0 0 0 0 1
AUTS2, LOC108004522, LOC110120735, LOC110121097, LOC110121181, LOC110121298, LOC110121299, LOC110121300, LOC129998558, LOC129998559 1 0 0 0 0 0 1
AUTS2, LOC110120804, LOC126860068, LOC129389811, LOC129998560, LOC129998561, LOC129998562, LOC129998563, LOC129998564, LOC129998565, LOC129998566, LOC129998567, LOC129998568, LOC129998569, LOC129998570, LOC129998571 1 0 0 0 0 0 1
AUTS2, LOC110120804, LOC129389811, LOC129998560, LOC129998561, LOC129998562, LOC129998563, LOC129998564, LOC129998565, LOC129998566, LOC129998567, LOC129998568, LOC129998569 1 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 1
MYCBP2 0 0 1 0 0 0 1
RYR1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 1 1 25 0 0 0 27
New York Genome Center 0 1 10 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 3 1 2 2 0 0 8
Baylor Genetics 3 0 4 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 1 5 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 5 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 2 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
Mendelics 1 0 0 2 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
3billion 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 1 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 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 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1

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