ClinVar Miner

Variants studied for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (5):
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
115 41 226 63 26 464

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
PCDH19 100 35 168 40 17 353
ARHGEF9 10 6 40 22 3 81
ATP6AP2 3 0 16 1 6 26
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 3
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, GPR34, GPR82, MED14, MPC1L, NYX, USP9X 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 70 11 204 62 25 372
Mendelics 9 5 1 1 0 16
OMIM 13 0 0 0 0 13
Genetic Services Laboratory,University of Chicago 2 1 10 0 0 13
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 1 1 0 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 3 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 0 5 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 1 2 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 2 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 1 4
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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.