ClinVar Miner

Variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium

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
31 35 128 21 37 7 252

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VLDLR 11 11 84 11 15 5 133
ATP8A2 12 17 19 1 7 0 54
WDR81 5 4 25 8 8 2 51
CA8 2 3 0 0 4 0 9
LOC130001468, VLDLR 0 0 0 1 2 0 3
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR 1 0 0 0 0 0 1
LOC130001471, VLDLR 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 69 11 14 0 94
Genome-Nilou Lab 0 0 0 0 27 0 27
Baylor Genetics 2 2 20 0 0 0 24
OMIM 20 0 0 0 0 0 20
Revvity Omics, Revvity 1 4 11 0 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 3 4 0 0 0 12
Fulgent Genetics, Fulgent Genetics 0 1 4 5 0 0 10
3billion 2 4 1 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 1 0 0 6
New York Genome Center 0 0 6 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 4 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 4 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 4 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 2 0 0 0 5
GeneReviews 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 0 0 3
Medical Genetics Laboratory, Tarbiat Modares University 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
TIDEX, University of British Columbia 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 1

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