ClinVar Miner

Variants studied for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (6):
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
295 85 683 488 59 5 1577

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCDH19 235 70 402 252 18 4 954
ARHGEF9 26 12 138 139 29 1 338
ATP6AP2 3 1 73 61 11 0 146
LOC125467768, PCDH19 27 2 61 31 1 0 121
ATP6AP2, LOC130068149 0 0 4 5 0 0 9
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 0 3
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, GPR34, GPR82, MED14, MPC1L, NYX, USP9X 0 0 2 0 0 0 2
AMER1, ARHGEF9, ASB12, MTMR8, ZC4H2 0 0 1 0 0 0 1
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX 0 0 1 0 0 0 1
CSTF2, NOX1, PCDH19, SRPX2, SYTL4, TNMD, TSPAN6 1 0 0 0 0 0 1
DIAPH2, FAM133A, NAP1L3, PABPC5, PCDH11X, PCDH19, RPA4, TGIF2LX 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 234 25 637 481 58 0 1435
Mendelics 15 6 1 1 0 0 23
Revvity Omics, Revvity 2 3 15 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 2 6 10 0 0 0 18
Fulgent Genetics, Fulgent Genetics 3 0 2 8 2 0 15
OMIM 13 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 2 1 8 1 1 0 13
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 4 0 0 0 0 12
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 1 1 0 0 0 11
Baylor Genetics 3 2 5 0 0 0 10
Pediatric Department, Peking University First Hospital 4 6 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 3 0 0 0 7
New York Genome Center 0 1 5 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 1 2 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 2 0 0 0 5
3billion 2 3 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 0 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 3 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 3
MGZ Medical Genetics Center 0 0 2 1 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 2 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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