ClinVar Miner

Variants studied for complex cortical dysplasia with other brain malformations

Included ClinVar conditions (11):
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
39 30 47 4 2 2 115

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TUBB2B 8 10 15 1 1 0 34
TUBB3 7 6 9 0 0 0 20
TUBB2A 3 9 5 0 1 0 15
TUBB 5 2 3 0 0 1 10
KIF2A 4 3 2 0 0 0 8
TUBA8 0 0 8 0 0 0 8
KIF5C 2 0 3 2 0 1 7
TUBG1 3 0 1 1 0 0 5
APC2 4 0 0 0 0 0 4
CTNNA2 3 0 1 0 0 0 4

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 32 0 1 0 0 0 33
Genetic Services Laboratory, University of Chicago 4 6 12 0 0 0 22
Baylor Genetics 2 5 9 0 0 0 16
Mendelics 1 1 1 1 2 0 6
Institute of Human Genetics, Klinikum rechts der Isar 3 3 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 3 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Service de Génétique Moléculaire,Hôpital Robert Debré 1 1 0 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 2 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 1 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 2
GeneReviews 1 0 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
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 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
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1

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