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 total
13 7 14 4 1 38

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AUTS2 10 6 14 4 1 34
AUTS2, LOC110120804 2 0 0 0 0 2
​intergenic 0 0 1 0 0 1
AUTS2, LOC108004522, LOC110120735, LOC110121097, LOC110121181, LOC110121298, LOC110121299, LOC110121300 1 0 0 0 0 1
KMT2D 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 5 0 0 6
OMIM 4 0 0 0 0 4
Baylor Genetics 2 0 2 0 0 4
Mendelics 1 0 0 2 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 2 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Molecular Genetics Laboratory Heidelberg, Heidelberg University 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.