ClinVar Miner

Variants studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
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Gene type:
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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 risk factor not provided total
242 181 1026 436 496 1 68 2353

Gene and significance breakdown #

Total genes and gene combinations: 105
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCND3 12 12 107 127 24 0 0 276
ITPR1 12 13 122 47 79 0 3 261
DYNC1H1 0 0 76 40 51 0 0 167
SPTBN2 6 13 96 35 21 0 2 165
CACNA1A 25 31 45 14 20 0 17 143
PRKCG 26 18 38 10 18 0 15 112
TGM6 8 3 43 21 37 0 0 106
CAMTA1 19 15 51 8 10 0 1 103
TTBK2 3 4 47 19 26 0 3 99
ATP1A3 8 10 9 11 50 0 0 84
PDYN 4 1 52 9 20 0 0 83
CACNA1G 3 10 53 4 9 0 1 80
AFG3L2 12 6 29 11 16 0 12 78
FGF14 11 2 34 13 17 0 0 76
DNMT1 4 3 23 6 6 0 1 42
CCDC88C 1 1 18 9 8 0 1 38
KCNC3 4 2 14 8 4 0 0 30
FAT2, SLC36A1 2 0 15 2 11 0 0 28
GRM1 3 0 8 7 5 0 0 23
PUM1 4 5 11 0 3 0 1 22
JMJD8, STUB1 7 6 3 1 1 0 0 18
FAT2 0 1 2 1 12 0 0 16
AFG3L2, TUBB6 0 0 9 0 5 0 0 14
ITPR1, LOC126806590 3 4 4 0 4 0 0 14
SAMD9L 1 0 8 5 0 0 0 14
MME 5 1 4 2 0 0 1 13
TMEM240 6 3 6 0 1 0 0 13
EEF2 1 1 7 0 2 0 1 12
ELOVL5 2 0 7 1 0 0 3 11
ATXN2 0 0 3 3 2 1 1 10
ELOVL4 2 1 3 1 1 0 0 8
ATN1, LOC109461484 2 0 0 3 2 0 0 7
DYNC1H1, LOC126862060 0 0 4 2 1 0 0 7
STUB1 2 3 2 0 0 0 0 7
ATXN1, LOC108663993 1 0 1 2 2 0 0 6
ATXN10, LOC107181287, LOC108660404 4 0 0 0 1 0 1 6
CACNA1A, LOC108663985 1 0 0 2 3 0 0 6
CAMTA1, LOC126805603 1 0 3 1 0 0 1 6
DAB1 1 0 4 0 1 0 0 6
DYNC1H1, LOC125078040 0 0 3 1 2 0 0 6
FAT1 0 0 6 0 0 0 0 6
NPHP3-ACAD11, UBA5 3 2 0 0 1 0 0 6
PNPT1 3 1 2 0 0 0 0 6
TRPC3 2 0 3 0 1 0 0 6
ATXN10 0 0 4 1 0 0 0 5
ATXN7 1 0 3 0 1 0 0 5
DNMT1, LOC126862853 0 1 2 2 0 0 0 5
LOC108663996, TBP 2 0 1 1 1 0 0 5
NPTX1 4 0 1 0 0 0 0 5
ATP1A3, LOC130064543 0 0 3 0 1 0 0 4
ATXN1 0 0 2 1 1 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 4
ITPR1, LOC129936059 0 0 3 0 1 0 0 4
KIF26B 1 0 3 0 0 0 0 4
PLD3, PRX 3 0 0 0 1 0 0 4
ATN1 1 1 1 0 0 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 3
ATXN7, LOC108660406, LOC129936979 1 0 1 0 1 0 0 3
KCNC3, LOC111811967 1 0 2 0 0 0 0 3
LOC109504727, LOC130065308, NOP56 2 0 0 0 1 0 0 3
PLD3 1 0 3 0 0 0 0 3
ATXN2, LOC130008791 0 0 0 2 1 0 0 2
CACNA1A, LOC126862865 0 1 0 1 0 0 0 2
EEF2, LOC130063169 0 0 1 0 1 0 0 2
FGF14, ITGBL1 1 0 1 0 0 0 0 2
NOP56 0 1 1 0 0 0 0 2
PPP2R2B 0 0 2 0 0 0 0 2
​intergenic 1 0 0 0 1 0 0 1
AADACL3, AADACL4, CFAP107, DHRS3, MFN2, MIIP, PLOD1, PRAMEF1, PRAMEF11, PRAMEF12, TNFRSF1B, TNFRSF8, VPS13D 0 0 1 0 0 0 0 1
ATXN10, LOC130067689 0 0 1 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 1 1
ATXN3 0 0 0 0 0 0 1 1
ATXN8, ATXN8OS 1 0 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 0 1
BEAN1 1 0 0 0 0 0 0 1
CACNA1A, LOC126862864 1 1 0 0 0 0 0 1
CACNA1A, LOC126862866 0 0 0 1 0 0 0 1
CCDC88C, LOC130056326 0 0 0 0 1 0 0 1
CDH1 0 0 0 1 0 0 0 1
DAGLA, MYRF 0 1 0 0 0 0 0 1
DYNC1H1, LOC130056502 0 0 1 0 0 0 0 1
EGOT, ITPR1, ITPR1-DT, LOC112935932, LOC122889020, LOC122889021, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066 1 0 0 0 0 0 0 1
EP300 0 0 1 0 0 0 0 1
FAT1, LOC126807255 0 0 1 0 0 0 0 1
FAT2, LOC132089193, SLC36A1 0 0 0 0 1 0 0 1
FGF14, LOC124946331, MIR2681 0 1 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 1 1
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, LOC121725127, LOC122889019, LOC122889020, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, SETMAR, SUMF1 1 0 0 0 0 0 0 1
JMJD8, RHBDL1, STUB1, WDR24 0 0 1 0 0 0 0 1
KCNC3, LOC130064972 0 0 1 0 0 0 0 1
LAMA4 0 0 1 0 0 0 0 1
LOC108660405, PPP2R2B 0 0 0 0 1 0 0 1
LOC126805680, PUM1 0 0 1 0 0 0 0 1
LOC126806082, SMYD3 0 0 1 0 0 0 0 1
MTCL1 0 0 1 0 0 0 0 1
NID1 0 0 1 0 0 0 0 1
OBI1, POU4F1 0 0 1 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 1
PLEKHG4 0 0 1 0 0 0 0 1
PRDM16 0 0 1 0 0 0 0 1
RUBCN 0 1 0 0 0 0 0 1
SLC9A1 0 0 1 0 0 0 0 1
SUMF1 0 1 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 1
ZFHX3 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 435 188 281 0 0 904
Invitae 2 0 102 123 24 0 0 251
Fulgent Genetics, Fulgent Genetics 11 2 79 91 8 0 0 191
Genome-Nilou Lab 0 0 0 0 172 0 0 172
OMIM 118 0 1 0 4 1 0 124
Baylor Genetics 5 11 60 0 0 0 0 75
GeneReviews 25 0 0 0 4 0 37 66
O&I group, Department of Genetics, University Medical Center of Groningen 15 9 34 0 0 0 0 58
Revvity Omics, Revvity 0 3 47 0 0 0 0 50
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 24 18 0 0 0 0 0 42
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 30 3 3 0 0 39
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 0 33
Institute of Human Genetics, University of Leipzig Medical Center 3 9 17 2 0 0 0 31
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 8 19 0 0 29
Mendelics 7 5 7 2 7 0 0 28
New York Genome Center 1 1 25 0 0 0 0 27
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 19 2 2 0 0 26
Centogene AG - the Rare Disease Company 1 5 17 1 0 0 0 24
3billion 9 3 11 0 0 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 4 11 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 2 1 14 0 0 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 5 10 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 3 9 1 0 0 0 16
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 9 0 0 0 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 10 1 1 0 0 15
Molecular Genetics, Royal Melbourne Hospital 1 2 8 1 2 0 0 14
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 14 14
MGZ Medical Genetics Center 2 2 9 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 11 1 0 0 0 13
Genomics England Pilot Project, Genomics England 2 11 0 0 0 0 0 13
Schule lab, Hertie Institute for Clinical Brain Research 5 0 0 7 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 3 3 0 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 9 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 5 2 3 0 0 0 0 10
Institute of Human Genetics, University of Goettingen 0 3 6 0 0 0 0 9
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 7 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 8 0 0 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 3 0 0 8
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 7 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 3 4 0 0 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 3 4 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 3 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 6 0 0 0 0 6
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 4 0 1 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 0 5
Undiagnosed Diseases Network, NIH 3 2 0 0 0 0 0 5
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 4 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 5 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 3 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 3 0 0 0 0 5
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 4 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 4
Taipei Veterans General Hospital, Neurological Institute 4 0 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 1 0 0 0 0 4
Codex Genetics Limited 4 0 0 0 0 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 3 0 1 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 2 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 0 3
Suma Genomics 0 1 2 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 1 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 2 0 0 0 2
Pars Genome Lab 0 0 0 1 1 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Molecular Genetics of Human Eye Development, Oxford Brookes University 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 0 0 0 1
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Division of Genomics, Kyushu university 1 0 0 0 0 0 0 1
Genetics of Cognitive Dysfunction Laboratory, I3S-IBMC, University of Porto 1 0 0 0 0 0 0 1
Medical Institute of Bioregulation, Kyushu university 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
General Neurology and Ataxia Unit, Universidade Federal de Sao Paulo - Escola Paulista de Medicina 0 1 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University 0 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 1

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