ClinVar Miner

Variants studied for X-linked intellectual disability Cabezas type

Coded as:
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Gene type:
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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
18 15 76 54 33 191

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CUL4B 14 14 58 39 31 153
CUL4B, LOC113845788 3 1 18 15 2 37
AKAP14, ATP1B4, C1GALT1C1, CUL4B, DOCK11, IL13RA1, KIAA1210, LAMP2, LONRF3, MCTS1, NDUFA1, NKAP, NKRF, PGRMC1, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SLC25A43, SLC25A5, SOWAHD, STEEP1, TMEM255A, UBE2A, UPF3B, ZBTB33, ZCCHC12 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 46 50 33 132
3billion 1 1 3 1 0 6
OMIM 5 0 0 0 0 5
Baylor Genetics 0 0 5 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 5
Revvity Omics, Revvity 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 1 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Solve-RD Consortium 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Breda Genetics srl 0 0 1 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 1

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