ClinVar Miner

Variants studied for Episodic ataxia type 2

Coded as:
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
52 33 33 2 23 20 148

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CACNA1A 41 27 31 2 22 19 129
CACNA1A, LOC126862866 2 3 2 0 0 0 7
CACNA1A, LOC126862864 2 2 0 0 0 1 3
CACNA1A, LOC108663985 1 0 0 0 1 0 2
CACNA1A, LOC126862865 1 1 0 0 0 0 2
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718 1 0 0 0 0 0 1
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719 1 0 0 0 0 0 1
CACNA1A, LOC111365163, LOC112543459 1 0 0 0 0 0 1
CACNA1A, LOC112543459 1 0 0 0 0 0 1
CACNA1A, LOC121852980, LOC126862864, LOC126862865, LOC129391066, LOC130063718, LOC130063719, LOC130063720, LOC130063721 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 20 0 0 0 0 0 20
UniProtKB/Swiss-Prot 0 0 0 0 0 20 20
Genome-Nilou Lab 0 0 0 0 20 0 20
Baylor Genetics 4 2 12 0 0 0 18
Mendelics 5 5 1 2 3 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 3 0 0 0 6
MGZ Medical Genetics Center 1 1 3 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 2 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 2 0 0 0 5
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 2 1 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal 3 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 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 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.