ClinVar Miner

Variants studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (60):
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 risk factor not provided total
191 64 650 245 332 1 10 1460

Gene and significance breakdown #

Total genes and gene combinations: 66
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ITPR1 10 8 119 39 81 0 1 252
DYNC1H1 0 0 84 43 54 0 0 181
SPTBN2 5 9 72 35 17 0 2 134
KCND3 8 3 47 27 12 0 0 97
PRKCG 32 7 29 10 19 0 0 94
TGM6 6 1 30 19 37 0 0 92
TTBK2 3 0 42 19 25 0 0 89
PDYN 4 1 48 8 20 0 0 79
FGF14 4 0 34 13 17 0 0 67
AFG3L2 13 3 20 11 15 0 0 61
CAMTA1 9 5 17 3 0 0 1 35
CACNA1A 8 5 17 0 0 0 3 32
CACNA1G 3 1 23 2 1 0 1 31
ATXN2 6 0 2 6 5 1 0 20
KCNC3 5 1 4 5 4 0 0 17
ATP1A3 7 6 3 0 0 0 0 16
AFG3L2, TUBB6 0 0 7 0 5 0 0 12
CCDC88C 1 1 10 0 0 0 0 12
DNMT1 3 3 6 0 0 0 0 11
PUM1 3 5 4 0 0 0 1 11
MME 4 0 4 0 0 0 0 8
ATXN1, LOC108663993 1 0 0 2 3 0 0 6
ATXN10, LOC107181287, LOC108660404 5 0 0 0 1 0 0 6
ELOVL5 2 0 2 1 1 0 0 6
GRM1 3 0 3 0 0 0 0 6
JMJD8, STUB1 5 1 0 0 0 0 0 6
TMEM240 5 1 0 0 1 0 0 6
ELOVL4 2 1 2 0 0 0 0 5
SCYL1 5 0 0 0 0 0 0 5
ATN1, LOC109461484 2 0 0 0 2 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 4
FAT2, SLC36A1 2 0 4 0 0 0 0 4
LOC108663996, TBP 1 0 1 1 1 0 0 4
NPHP3-ACAD11, UBA5 3 1 0 0 0 0 0 4
PLD3, PRX 3 0 0 0 1 0 0 4
ATXN7 1 0 1 0 1 0 0 3
ATXN7, LOC108660406 1 0 1 0 1 0 0 3
LOC109504727, NOP56 2 0 0 0 1 0 0 3
​intergenic 1 0 0 0 1 0 0 2
ATXN1 0 0 1 1 0 0 0 2
ATXN10 0 0 2 0 0 0 0 2
EEF2 1 0 0 0 0 0 1 2
LOC108660405, PPP2R2B 0 0 0 0 2 0 0 2
PLD3 1 0 2 0 0 0 0 2
AADACL3, AADACL4, C1orf158, DHRS3, MFN2, MIIP, PLOD1, PRAMEF1, PRAMEF11, PRAMEF12, TNFRSF1B, TNFRSF8, VPS13D 0 0 1 0 0 0 0 1
ATN1 1 0 0 0 0 0 0 1
ATXN3 0 0 0 0 1 0 0 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, LOC108663985 1 0 0 0 0 0 0 1
DAB1 1 0 0 0 0 0 0 1
EGOT, ITPR1, ITPR1-DT, LOC112935932 1 0 0 0 0 0 0 1
FGF14, MIR2681 0 1 0 0 0 0 0 1
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, SETMAR, SUMF1 1 0 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 0 1
NID1 0 0 1 0 0 0 0 1
NOP56 0 0 1 0 0 0 0 1
PLEKHG4 0 0 1 0 0 0 0 1
PPP2R2B 0 0 1 0 0 0 0 1
PRDM16 0 0 1 0 0 0 0 1
SLC9A1 0 0 1 0 0 0 0 1
SMYD3 0 0 1 0 0 0 0 1
STUB1 1 0 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 1
TRPC3 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 429 188 281 0 0 898
OMIM 103 0 1 0 4 1 0 109
Invitae 0 0 46 27 12 0 0 85
GeneReviews 60 0 0 0 8 0 0 68
Baylor Genetics 8 9 48 0 0 0 0 65
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 30 3 3 0 0 39
Fulgent Genetics,Fulgent Genetics 9 0 22 0 0 0 0 31
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 8 20 0 0 30
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 19 2 1 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 2 4 16 2 0 0 0 24
Mendelics 5 4 6 2 6 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 4 11 0 0 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 5 11 0 0 17
Institute of Human Genetics, Klinikum rechts der Isar 6 7 0 0 0 0 0 13
Schule lab,Hertie Institute for Clinical Brain Research 5 0 0 7 0 0 0 12
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 6 3 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 8 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
Athena Diagnostics Inc 0 0 0 0 6 0 0 6
Clinical Genetics laboratory, University of Goettingen 0 2 4 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 5 0 0 0 0 0 6
Rare Disease Group, Clinical Genetics,Karolinska Institutet 2 0 4 0 1 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 3 0 0 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
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 4
Department of Neurology,Taipei Veterans General Hospital 4 0 0 0 0 0 0 4
Codex Genetics Limited 4 0 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 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
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 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
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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 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
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 1

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