ClinVar Miner

Variants studied for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (52):
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
604 467 3031 1404 354 15 5756

Gene and significance breakdown #

Total genes and gene combinations: 77
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIAA0586 83 35 586 407 56 2 1166
CSPP1 74 18 422 275 33 1 819
CEP290 83 40 252 61 21 2 449
CEP41 13 5 228 113 24 0 372
TMEM237 25 12 203 113 23 0 357
TMEM231 30 9 158 126 16 0 333
AHI1 62 36 174 40 20 0 315
RPGRIP1L 18 35 191 40 17 1 299
CC2D2A 48 18 124 11 22 0 216
ARFGEF1, CSPP1 8 5 103 66 10 0 190
NPHP1 12 39 86 16 4 0 156
ATCAY 2 0 97 17 29 0 145
VLDLR 11 11 84 11 15 5 133
TMEM138 13 3 70 42 6 0 126
TMEM67 23 14 44 23 2 0 105
MKS1 7 40 44 3 5 1 94
TMEM216 6 25 48 12 13 1 94
ATP8A2 12 15 19 1 7 0 52
WDR81 4 4 24 8 8 2 49
WDR73 10 11 19 6 3 0 47
CWF19L1 9 10 3 0 1 0 22
CPLANE1 8 11 0 0 0 0 19
LOC130059440, TMEM231 3 1 8 6 1 0 19
CEP290, RLIG1 3 6 7 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 16
PMPCA 4 1 6 0 2 0 13
ARL13B 0 9 0 0 0 0 9
CA8 2 3 0 0 4 0 9
INPP5E 3 6 0 0 0 0 9
CEP104 1 7 0 0 0 0 8
TCTN2 2 5 0 0 0 0 7
LOC126860792, PMPCA 2 0 3 1 0 0 6
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 6
B9D2 1 4 0 0 0 0 5
KIF14 0 5 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 5
TCTN1 0 5 0 0 0 0 5
ZNF592 0 0 3 0 2 0 5
CEP290, LOC129390514 1 0 1 1 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 3
LOC130001468, VLDLR 0 0 0 1 2 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
B9D1 0 2 0 0 0 0 2
CHUK-DT, CWF19L1 0 0 2 0 0 0 2
IFT140 2 0 0 0 0 0 2
LOC129937586, NPHP3, NPHP3-ACAD11 0 2 0 0 0 0 2
LOC130003010, PMPCA 1 0 1 0 0 0 2
LOC130004408, TCTN3 0 2 0 0 0 0 2
TCTN3 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CEP104, LOC126805586 0 1 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1
ENG 0 0 0 0 1 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IFT140, LOC126862260 1 0 0 0 0 0 1
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR 1 0 0 0 0 0 1
LOC130001471, VLDLR 0 0 0 0 1 0 1
LRRCC1 0 1 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
NPHP3 0 1 0 0 0 0 1
OFD1 1 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 1
RPE65 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1
SMAD6 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 220 62 1593 1115 149 0 3139
Illumina Laboratory Services, Illumina 0 1 802 111 133 0 1047
Fulgent Genetics, Fulgent Genetics 93 83 476 164 2 0 818
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 51 106 0 0 0 0 157
Baylor Genetics 24 60 69 0 0 0 153
UW Hindbrain Malformation Research Program, University of Washington 132 3 0 0 0 0 135
Genome-Nilou Lab 2 3 18 2 88 0 113
OMIM 109 0 2 0 0 0 111
Counsyl 1 31 33 5 0 0 70
Revvity Omics, Revvity 15 9 41 0 0 0 65
New York Genome Center 4 3 42 0 0 0 49
Natera, Inc. 1 1 19 4 7 0 32
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 7 9 0 0 0 31
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 12 12 0 4 0 30
3billion 11 9 6 0 0 0 26
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 11 5 6 0 0 0 22
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 4 13 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 3 7 0 0 0 19
Myriad Genetics, Inc. 1 18 0 0 0 0 19
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 9 1 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 8 2 6 1 0 0 17
Genetic Services Laboratory, University of Chicago 7 4 0 0 0 0 11
Mendelics 2 5 1 0 2 0 10
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 5 5 0 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 5 2 0 0 0 10
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 8 1 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 7 0 9
GeneReviews 0 0 0 0 0 7 7
Molecular Genetics, Royal Melbourne Hospital 1 1 3 0 2 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 3 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 1 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 4 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 0 1 0 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 2 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 5
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 5 0 0 0 5
Suma Genomics 3 1 1 0 0 0 5
MGZ Medical Genetics Center 1 2 1 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 0 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 0 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 2 1 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 2 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 1 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Medical Genetics Laboratory, Tarbiat Modares University 0 1 2 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 1 0 0 0 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Institute of Bioinformatics 1 1 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Movement Disorders Program, Boston Children's Hospital 0 1 1 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 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
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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