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
145 52 321 123 27 657

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PCDH19 128 44 235 81 17 494
ARHGEF9 12 8 62 35 4 121
ATP6AP2 3 0 22 7 6 38
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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 99 19 290 122 26 556
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 7 4 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 1 1 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 1 1 8 0 0 10
Baylor Genetics 2 2 4 0 0 8
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 1 1 2 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 4
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
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
Institute of Human Genetics,Cologne University 0 0 1 0 0 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
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 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
Breda Genetics srl 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 1

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