ClinVar Miner

Variants studied for cerebellar degeneration

Included ClinVar conditions (87):
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
380 251 1081 471 385 1 13 2464

Gene and significance breakdown #

Total genes and gene combinations: 85
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CYP27A1 78 42 100 106 21 0 1 291
ITPR1 10 8 119 39 81 0 1 252
DYNC1H1 0 0 84 43 54 0 0 181
PEX5 8 0 96 42 9 0 0 154
PEX7 24 8 63 51 9 0 0 144
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
PEX26 9 0 54 14 6 0 0 78
FGF14 4 0 34 13 17 0 0 67
AFG3L2 13 3 20 11 15 0 0 61
PEX6 12 25 21 2 0 0 0 59
PEX1 15 36 7 0 0 0 0 57
PHYH 3 4 33 10 7 0 0 53
PEX12 6 28 17 0 1 0 0 51
PEX10 9 18 17 1 0 0 0 42
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
GATAD1, PEX1 5 15 4 0 0 0 1 24
PEX2 4 7 10 0 0 0 0 21
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
​intergenic 8 0 0 0 1 0 0 9
PEX16 3 1 4 0 0 0 1 9
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
PEX10, PLCH2 1 3 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
PEX11B 3 0 0 0 0 0 0 3
PEX13 2 0 1 0 0 0 0 3
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
ACRBP, ATN1, C12orf57, C1R, C1RL, C1S, CD27, CD4, CDCA3, CHD4, CLSTN3, COPS7A, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, P3H3, PEX5, PHB2, PIANP, PTMS, PTPN6, RBP5, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, ZNF384 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
MICAL3, PEX26 0 0 1 0 0 0 0 1
MMUT 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
PEX13, PUS10 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: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 4 2 537 206 296 0 0 1045
Invitae 81 11 246 222 45 0 0 605
Counsyl 27 147 86 5 0 0 0 265
OMIM 151 0 1 0 4 1 0 157
GeneReviews 124 0 0 0 15 0 0 139
Baylor Genetics 34 19 54 0 0 0 0 107
Fulgent Genetics,Fulgent Genetics 17 2 42 1 0 0 0 62
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 1 31 3 3 0 0 45
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 4 16 20 0 0 41
Natera, Inc. 10 0 15 9 4 0 0 38
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 22 2 1 0 0 32
Mendelics 7 7 6 3 8 0 0 31
Institute of Human Genetics, University of Leipzig Medical Center 4 4 17 2 0 0 0 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 5 15 0 0 23
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 6 11 0 0 18
Elsea Laboratory,Baylor College of Medicine 3 0 10 0 0 0 0 13
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
Myriad Women's Health, Inc. 4 8 0 0 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 0 11 11
Mayo Clinic Laboratories, Mayo Clinic 0 1 9 0 0 0 0 10
Undiagnosed Diseases Network,NIH 5 4 0 0 0 0 0 9
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 6 3 0 0 9
Genetic Services Laboratory, University of Chicago 3 5 0 0 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 3 4 0 1 0 0 8
Clinical Genetics laboratory, University of Goettingen 0 2 5 0 0 0 0 7
Athena Diagnostics Inc 0 0 0 0 6 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
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
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 2 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 1 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 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
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 1 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 1 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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 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
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 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
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 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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