ClinVar Miner

Variants studied for complex cortical dysplasia with other brain malformations

Included ClinVar conditions (17):
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
67 65 98 9 10 11 244

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TUBB2B 11 14 21 2 1 3 50
TUBB3 11 14 14 0 0 4 38
TUBB2A 4 17 7 1 2 1 28
TUBB 7 7 11 0 0 2 25
KIF5C 3 1 14 3 0 1 21
KIF2A 4 3 7 1 2 0 16
TUBG1 4 3 6 2 1 0 16
APC2 4 2 6 0 2 0 14
CTNNA2 4 1 2 0 2 0 9
KIF26A 7 1 1 0 0 0 9
TUBA8 0 0 8 0 0 0 8
CAMSAP1 5 0 0 0 0 0 5
​intergenic 1 0 0 0 0 0 1
CTNNA2, LRRTM1 1 0 0 0 0 0 1
KIF2A, LOC129993961 0 0 1 0 0 0 1
LOC129995635, TUBB2A 1 1 0 0 0 0 1
LOC130059847, TUBB3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 44 0 1 0 0 0 45
Baylor Genetics 6 6 17 0 0 0 29
Genetic Services Laboratory, University of Chicago 4 6 12 0 0 0 22
Revvity Omics, Revvity 0 1 13 0 0 0 14
3billion 3 7 4 0 0 0 14
Fulgent Genetics, Fulgent Genetics 0 0 3 5 2 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 6 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 5 3 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Mendelics 3 2 1 1 0 0 7
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 4 3 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 4 0 0 0 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 3 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 0 0 5
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 2 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 2 0 0 0 4
Institute of Human Genetics, Cologne University 1 0 1 1 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 1 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Suma Genomics 1 0 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1

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