ClinVar Miner

Variants studied for autosomal recessive metabolic cerebellar ataxia

Included ClinVar conditions (33):
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
254 232 633 256 106 3 1375

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP27A1 78 42 100 106 21 1 291
MTTP 14 24 77 23 38 0 162
PEX5 8 0 96 42 9 0 154
PEX7 24 8 63 51 9 0 144
TTPA 19 19 64 3 10 0 105
PEX26 9 0 54 14 6 0 78
PEX6 12 25 21 2 0 0 59
PEX1 15 36 7 0 0 0 57
PHYH 3 4 33 10 7 0 53
PEX12 6 28 17 0 1 0 51
APOB 21 0 26 1 0 0 48
PEX10 9 18 17 1 0 0 42
PCSK9 0 0 29 3 0 0 32
GATAD1, PEX1 5 15 4 0 0 1 24
PEX2 4 7 10 0 0 0 21
GRID2 7 2 2 0 0 0 11
GRM1 4 0 2 0 5 0 11
PEX16 3 1 4 0 0 1 9
​intergenic 7 0 0 0 0 0 7
PEX10, PLCH2 1 3 0 0 0 0 4
PEX11B 3 0 0 0 0 0 3
PEX13 2 0 1 0 0 0 3
APOB, APOB3'MAR 0 0 2 0 0 0 2
ACRBP, ATN1, C12orf57, C1R, C1RL, C1S, CD27, CD4, CDCA3, CHD4, CLSTN3, COPS7A, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, P3H3, PEX5, PHB2, PIANP, PTMS, PTPN6, RBP5, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, ZNF384 0 0 1 0 0 0 1
MICAL3, PEX26 0 0 1 0 0 0 1
MMUT 0 0 1 0 0 0 1
PEX13, PUS10 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 81 11 200 195 33 0 520
Illumina Clinical Services Laboratory,Illumina 4 2 274 32 55 0 367
Counsyl 28 162 93 7 0 0 290
GeneReviews 85 0 0 0 7 0 92
Natera, Inc. 15 3 40 17 16 0 91
OMIM 80 0 0 0 0 0 80
Baylor Genetics 27 12 11 0 0 0 50
Fulgent Genetics,Fulgent Genetics 8 3 21 1 0 0 33
Myriad Women's Health, Inc. 6 25 0 0 0 0 31
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
Elsea Laboratory,Baylor College of Medicine 3 0 10 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 9 3 0 0 0 0 12
Mendelics 3 4 0 1 4 0 12
Mayo Clinic 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 1 1 0 0 0 7
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 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
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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