ClinVar Miner

Variants studied for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (78):
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
969 301 3189 1252 544 1 5908

Gene and significance breakdown #

Total genes and gene combinations: 92
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 214 41 381 271 43 0 904
RPGRIP1L 88 25 294 151 29 0 543
CC2D2A 74 20 287 96 28 0 459
AHI1 79 18 233 78 37 0 418
CPLANE1 74 23 180 38 51 0 330
ZNF423 1 2 185 83 30 0 297
MKS1 41 33 117 95 8 0 281
INPP5E 26 7 172 56 33 0 275
CEP41 7 1 161 35 20 0 219
CSPP1 35 5 126 41 10 0 217
TMEM237 12 5 133 42 13 0 196
TMEM67 54 18 92 21 17 0 185
ATCAY 1 0 94 17 28 0 140
KIAA0586 32 9 52 23 26 0 139
OFD1 29 3 45 16 25 0 116
VLDLR 6 1 75 11 14 0 107
ARL13B 10 4 67 25 6 0 106
TCTN2 17 0 66 13 20 0 105
TMEM216 8 15 57 26 13 0 105
TCTN1 10 1 47 27 10 0 86
TMEM231 7 2 34 21 12 0 74
ARFGEF1, CSPP1 4 1 38 9 5 0 56
NPHP1 3 0 45 4 5 0 56
CEP104 7 1 24 5 16 0 53
TMEM138 6 1 36 3 4 0 46
C12orf29, CEP290 12 1 20 6 1 0 38
TCTN3 3 1 14 11 9 0 38
B9D1 6 3 14 7 4 0 32
WDR81 3 0 16 5 2 1 27
ATP8A2 5 9 8 1 0 0 23
WDR73 12 6 2 0 1 0 20
ARMC9 10 11 3 0 0 0 16
B9D2 3 1 3 2 5 0 14
PIBF1 9 4 4 0 0 0 14
CWF19L1 5 6 2 0 0 0 13
TTC21B 0 0 9 1 3 0 13
PMPCA 6 0 5 0 0 0 11
SUFU 2 0 9 0 0 0 11
TOGARAM1 10 8 1 0 0 0 11
ATP6V0A2, TCTN2 0 0 1 2 8 0 10
PDE6D 2 2 2 4 1 0 10
CEP120 5 0 3 0 0 0 8
CYB561A3, TMEM138 0 0 6 1 0 0 7
KATNIP 2 4 1 0 0 0 6
CA8 2 3 0 0 0 0 5
ZNF592 0 0 3 0 2 0 5
CPLANE1, LOC105374727 0 0 3 1 0 0 4
KIAA0753 3 1 0 0 0 0 4
C2CD3 3 0 0 0 0 0 3
IFT140 3 0 0 0 0 0 3
TMEM218 3 0 0 0 0 0 3
​intergenic 2 0 0 0 0 0 2
ARL3 2 0 0 0 0 0 2
CBY1 2 0 0 0 0 0 2
CLUAP1 0 2 0 0 0 0 2
FAM149B1 2 1 0 0 0 0 2
USH2A 0 0 2 0 0 0 2
ABCA4 0 0 1 0 0 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARL13B, DHFR2 0 0 1 0 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 0 1 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 1
CAV3 0 0 1 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1
COQ8A 0 0 0 0 1 0 1
CRYGD, LOC100507443 0 0 0 1 0 0 1
ENG 0 0 0 0 1 0 1
EXOC8 0 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
GH-LCR, SCN4A 0 0 0 1 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IFT172 1 0 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 0 1
KIF7 0 0 1 0 0 0 1
LRRC34 0 0 1 0 0 0 1
LRRCC1 0 1 0 0 0 0 1
MICALL2 1 0 0 0 0 0 1
PDPR 0 0 0 1 0 0 1
PKD2 0 0 0 0 1 0 1
RCOR1 0 1 0 0 0 0 1
RPE65 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1
TMEM17 0 0 1 0 0 0 1
WDPCP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 543 102 1850 1073 399 0 3967
Illumina Clinical Services Laboratory,Illumina 0 1 1188 162 222 0 1572
UW Hindbrain Malformation Research Program,University of Washington 276 13 0 0 0 0 289
OMIM 179 0 5 0 0 0 184
Baylor Genetics 29 10 101 0 0 0 140
Natera, Inc. 5 1 99 9 18 0 132
Fulgent Genetics,Fulgent Genetics 20 5 56 1 0 0 82
Counsyl 1 31 33 5 0 0 70
Mendelics 18 12 5 3 19 0 57
Broad Institute Rare Disease Group, Broad Institute 7 15 18 2 5 0 47
Centre for Mendelian Genomics,University Medical Centre Ljubljana 20 10 14 0 0 0 44
Genomic Research Center, Shahid Beheshti University of Medical Sciences 7 2 17 2 0 0 28
Genetic Services Laboratory, University of Chicago 14 6 5 0 0 0 25
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 5 11 4 1 0 0 21
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 12 8 0 21
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 7 11 2 0 0 0 20
University of Washington Center for Mendelian Genomics, University of Washington 0 18 1 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 7 1 6 2 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 12 0 14
GeneReviews 13 0 0 0 0 0 13
Institute of Human Genetics, Klinikum rechts der Isar 9 3 0 0 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 6 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 4 1 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 2 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 4 4 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 7 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 1 2 0 0 0 7
New York Genome Center 1 3 3 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 0 1 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 0 4 0 0 0 5
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 2 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 4 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 2 0 2 0 5
Laboratory of Genetics in Ophthalmology,Institut Imagine 4 0 1 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 0 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 3 1 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 0 4
Laboratory of Medical Genetics, INSERM 4 0 0 0 0 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Undiagnosed Diseases Network,NIH 0 1 2 0 0 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 2 0 0 0 0 3
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 3 0 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 1 0 1 1 0 0 3
Medical Genetics Laboratory,Tarbiat Modares University 0 1 2 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 0 0 0 2
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
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 0 0 2 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 Human Genetics,Heidelberg University 2 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 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 Health Enterprises Pvt Ltd, Manipal Hospital 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 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
Cancer Diagnostics Division,Gene Solutions 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, Oman 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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