ClinVar Miner

Variants studied for autosomal recessive metabolic cerebellar ataxia

Included ClinVar conditions (32):
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
191 184 421 118 40 2 901

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
APOB 21 0 101 37 0 0 159
CYP27A1 61 30 57 7 9 0 138
MTTP 12 3 43 23 12 0 83
PCSK9 0 0 45 30 0 0 75
TTPA 17 17 31 4 5 0 68
PEX6 11 25 19 2 0 0 56
PEX12 6 28 16 0 0 0 50
PEX7 13 5 29 2 3 0 49
PEX1 4 32 6 0 0 0 42
PEX10 9 18 16 1 0 0 41
PHYH 1 4 28 8 5 0 40
PEX2 4 7 9 0 0 0 20
GATAD1, PEX1 1 10 3 0 0 1 15
PEX26 5 0 4 1 0 0 10
GRM1 2 0 1 0 5 0 8
PEX16 3 1 3 0 0 1 8
​intergenic 7 0 0 0 0 0 7
APOB, APOB3'MAR 0 0 5 2 0 0 7
GRID2 6 1 0 0 0 0 7
PEX5 2 0 3 0 1 0 6
PEX10, PLCH2 1 3 0 0 0 0 4
PEX11B 3 0 0 0 0 0 3
APOB, LOC106560211 0 0 1 1 0 0 2
PEX13 2 0 0 0 0 0 2
PEX13, PUS10 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 2 291 93 20 0 410
Counsyl 31 162 93 7 0 0 293
GeneReviews 85 0 0 0 7 0 92
OMIM 77 0 0 0 0 0 77
Invitae 25 5 10 1 2 0 43
Fulgent Genetics,Fulgent Genetics 8 3 21 1 0 0 33
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 1 5 12 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 3 12 1 0 18
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 6 0 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 1 3 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 3 3 0 0 0 0 6
Baylor Genetics 3 1 1 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 3 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 5 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 4
Undiagnosed Diseases Network,NIH 2 2 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
University Hospital of Lyon,Hospices Civils de Lyon 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1

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