ClinVar Miner

Variants studied for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (51):
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
630 464 3274 1735 374 14 6360

Gene and significance breakdown #

Total genes and gene combinations: 73
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIAA0586 84 35 587 407 56 2 1168
CSPP1 77 22 422 277 33 1 826
ZNF423 1 2 395 352 40 0 783
CEP290 88 44 253 61 21 2 458
CEP41 13 5 229 113 24 0 373
TMEM237 26 12 203 113 23 0 358
TMEM231 32 9 159 126 16 0 335
AHI1 66 39 174 40 20 0 321
CC2D2A 55 22 131 11 22 0 234
ARFGEF1, CSPP1 8 5 103 66 10 0 190
RPGRIP1L 9 30 108 30 1 0 177
ATCAY 2 0 97 17 29 0 145
VLDLR 12 11 84 11 15 5 134
TMEM138 13 4 72 42 6 0 128
TMEM67 26 17 45 23 2 0 112
TMEM216 6 28 48 12 13 1 97
MKS1 7 40 44 3 5 1 94
ATP8A2 14 19 19 2 7 0 59
WDR81 7 8 26 9 8 2 59
WDR73 12 11 20 7 3 0 50
CPLANE1 10 12 0 0 0 0 22
CWF19L1 9 10 3 0 1 0 22
LOC130059440, TMEM231 3 1 8 6 1 0 19
CEP290, RLIG1 4 6 7 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 16
PMPCA 4 1 7 0 2 0 14
CA8 5 3 0 0 4 0 12
INPP5E 3 8 0 0 0 0 11
ARL13B 0 9 0 0 0 0 9
CEP104 1 7 0 0 0 0 8
NPHP1 3 5 0 0 0 0 8
TCTN1 2 6 0 0 0 0 8
TCTN2 3 5 0 0 0 0 8
LOC126860792, PMPCA 2 0 4 1 0 0 7
KIF14 0 6 0 0 0 0 6
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 6
B9D2 1 4 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 5
ZNF592 0 0 3 0 2 0 5
CHUK-DT, CWF19L1 0 1 2 0 1 0 4
TCTN3 4 0 0 0 0 0 4
CEP290, LOC129390514 1 0 1 1 0 0 3
LOC130001468, VLDLR 0 0 0 1 2 0 3
LOC130004408, TCTN3 1 2 0 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
ADCY7, BRD7, CNEP1R1, CYLD, HEATR3, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423 0 0 2 0 0 0 2
B9D1 0 2 0 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
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
NPHP3 0 1 0 0 0 0 1
OFD1 1 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 1
SMAD6 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 124
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 223 64 1988 1463 189 0 3927
Illumina Laboratory Services, Illumina 0 1 661 97 117 0 876
Fulgent Genetics, Fulgent Genetics 89 75 430 155 2 0 751
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 76 117 0 0 0 0 193
Genome-Nilou Lab 2 3 18 2 99 0 124
UW Hindbrain Malformation Research Program, University of Washington 120 3 0 0 0 0 123
Baylor Genetics 14 28 67 0 0 0 109
OMIM 105 0 2 0 0 0 107
Revvity Omics, Revvity 15 9 50 0 0 0 74
Counsyl 1 31 33 5 0 0 70
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 25 16 20 0 0 0 60
New York Genome Center 4 3 42 0 0 0 49
Natera, Inc. 1 1 19 4 7 0 32
3billion 11 9 7 5 0 0 32
Neuberg Centre For Genomic Medicine, NCGM 4 6 19 0 0 0 29
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 10 12 0 3 0 27
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 4 7 0 0 0 26
Juno Genomics, Hangzhou Juno Genomics, Inc 16 7 3 0 0 0 26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 6 8 0 0 0 25
Myriad Genetics, Inc. 1 18 0 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 10 2 5 1 0 0 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 1 9 1 0 0 16
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 6 2 0 0 0 11
Genetic Services Laboratory, University of Chicago 7 3 0 0 0 0 10
Mendelics 2 4 1 0 2 0 9
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
Molecular Genetics, Royal Melbourne Hospital 2 1 3 0 3 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 4 0 0 0 0 7
GeneReviews 0 0 0 0 0 6 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 1 0 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
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
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
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 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
Solve-RD Consortium 0 3 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 1 0 0 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 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
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 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
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 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
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 of Human Genetics, Heidelberg University 0 1 0 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
Palindrome, Gene Kavoshgaran Aria 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
Institute of Immunology and Genetics Kaiserslautern 0 0 1 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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.