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
16 13 99 17 16 1 162

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VLDLR 6 1 75 11 14 0 107
WDR81 3 0 16 5 2 1 27
ATP8A2 5 9 8 1 0 0 23
CA8 2 3 0 0 0 0 5

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 69 11 14 0 94
Baylor Genetics 2 2 18 0 0 0 22
OMIM 9 0 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 1 0 0 6
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 4 0 0 5
GeneReviews 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 1 0 0 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
Broad Institute Rare Disease Group, Broad Institute 0 2 1 0 0 0 3
Medical Genetics Laboratory,Tarbiat Modares University 0 1 2 0 0 0 3
Mendelics 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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
New York Genome Center 0 0 1 0 0 0 1

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