ClinVar Miner

Variants studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
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
260 256 1208 485 502 1 68 2663

Gene and significance breakdown #

Total genes and gene combinations: 112
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
KCND3 12 13 125 153 24 0 0 317
ITPR1 13 21 132 47 79 0 3 275
CAMTA1 22 20 88 30 15 0 1 174
SPTBN2 6 14 104 35 21 0 2 174
DYNC1H1 0 0 76 40 51 0 0 167
CACNA1A 29 32 53 14 20 0 17 154
PRKCG 26 23 40 10 18 0 15 117
TGM6 8 5 46 21 37 0 0 110
CACNA1G 3 16 69 4 9 0 1 102
TTBK2 3 4 48 19 26 0 3 100
ATP1A3 10 12 12 11 50 0 0 91
PDYN 4 1 52 9 20 0 0 83
AFG3L2 14 8 29 11 16 0 12 81
CCDC88C 2 30 29 9 8 0 1 78
FGF14 11 2 36 13 17 0 0 78
DNMT1 4 3 25 6 6 0 1 44
KCNC3 4 2 17 8 4 0 0 33
SAMD9L 1 1 25 5 0 0 0 32
PUM1 4 6 18 1 3 0 1 31
FAT2, SLC36A1 2 0 17 2 11 0 0 30
GRM1 3 0 11 7 5 0 0 26
JMJD8, STUB1 7 7 8 1 1 0 0 24
FAT2 0 1 3 1 12 0 0 17
MME 5 2 7 2 0 0 1 17
AFG3L2, TUBB6 0 0 10 0 5 0 0 15
ITPR1, LOC126806590 3 4 5 0 4 0 0 15
TMEM240 6 3 6 0 1 0 0 13
EEF2 1 1 7 0 2 0 1 12
ATXN2 0 0 4 3 2 1 1 11
ELOVL5 2 0 7 1 0 0 3 11
CAMTA1, LOC126805603 1 0 7 1 0 0 1 10
ELOVL4 3 2 4 1 1 0 0 10
ATN1, LOC109461484 2 0 2 2 2 0 0 8
NPHP3-ACAD11, UBA5 3 3 1 0 1 0 0 8
STUB1 3 4 2 0 0 0 0 8
TRPC3 2 0 5 0 1 0 0 8
CACNA1A, LOC108663985 1 0 1 2 3 0 0 7
DAB1 1 0 5 0 1 0 0 7
DYNC1H1, LOC126862060 0 0 4 2 1 0 0 7
NPTX1 4 2 1 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
ATXN7 1 0 4 0 1 0 0 6
DNMT1, LOC126862853 0 1 3 2 0 0 0 6
DYNC1H1, LOC125078040 0 0 3 1 2 0 0 6
FAT1 0 0 6 0 0 0 0 6
LOC108663996, TBP 3 0 1 1 1 0 0 6
PNPT1 3 2 2 0 0 0 0 6
ATXN10 0 0 4 1 0 0 0 5
ATN1 1 1 2 0 0 0 0 4
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
ATXN2, LOC130008791 1 0 0 2 1 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 3
ATXN7, LOC108660406, LOC129936979 1 0 1 0 1 0 0 3
CACNA1A, LOC126862865 0 1 1 1 0 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
PLD3, PRX 2 0 0 0 1 0 0 3
BEAN1 1 0 0 0 1 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
ATXN8OS 0 1 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
CAMTA1, LOC129929266 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 0 1 0 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
FH 1 0 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
TCEAL4 0 0 1 0 0 0 0 1
THAP11 1 0 0 0 0 0 0 1
VPS13D 0 1 0 0 0 0 0 1
ZFHX3 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 128
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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
Labcorp Genetics (formerly Invitae), Labcorp 2 0 116 150 24 0 0 292
Fulgent Genetics, Fulgent Genetics 15 34 132 90 8 0 0 279
Genome-Nilou Lab 0 0 0 0 172 0 0 172
OMIM 120 0 1 0 4 1 0 126
Baylor Genetics 6 11 66 0 0 0 0 82
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
PreventionGenetics, part of Exact Sciences 1 2 23 23 6 0 0 55
Revvity Omics, Revvity 0 3 47 0 0 0 0 50
Neuberg Centre For Genomic Medicine, NCGM 2 1 43 0 0 0 0 46
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 11 22 1 0 0 0 43
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
New York Genome Center 1 2 36 0 0 0 0 39
Institute of Human Genetics, University of Leipzig Medical Center 5 12 17 2 0 0 0 36
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 0 33
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 8 19 0 0 29
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 22 1 1 0 0 28
Mendelics 6 5 7 2 7 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 2 5 16 1 0 0 0 24
3billion, Medical Genetics 9 3 11 1 0 0 0 24
Juno Genomics, Hangzhou Juno Genomics, Inc 4 5 10 0 0 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 4 11 0 0 18
Solve-RD Consortium 0 17 0 0 0 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 5 10 0 0 16
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 9 0 0 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 7 0 0 0 0 0 14
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 3 4 0 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 Human Genetics, University of Goettingen 0 4 7 0 0 0 0 11
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 9 0 0 0 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 9 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 5 2 3 0 0 0 0 10
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 3 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 7 0 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 3 4 0 0 0 0 7
MVZ Medizinische Genetik Mainz 1 0 6 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 5 0 0 0 0 0 6
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 4 0 1 0 0 6
Athena Diagnostics 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 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
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 2 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 2 0 0 0 0 4
Taipei Veterans General Hospital, Neurological Institute 4 0 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 1 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
Department of Human Genetics, Hannover Medical School 1 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 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
Institute of Immunology and Genetics Kaiserslautern 1 0 1 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
Institute of Human Genetics, Cologne University 0 1 0 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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 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
Molecular Genetics Laboratory, Motol Hospital 0 1 0 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
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 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
Dr.Nikuei Genetic Center 0 0 0 0 1 0 0 1
Dr. Muhammad Imran Shabbir Lab, International Islamic University Islamabad 0 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 1

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