ClinVar Miner

Variants studied for spastic ataxia

Included ClinVar conditions (21):
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 affects not provided total
246 640 851 403 112 1 16 2034

Gene and significance breakdown #

Total genes and gene combinations: 82
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
SACS 147 560 612 165 41 1 7 1329
KIF1C 13 7 155 183 41 0 0 390
KIF1C, LOC126862473 0 1 14 18 5 0 0 38
KIF1C, LOC126862472 2 1 8 20 6 0 0 37
AFG3L2 11 5 9 0 4 0 1 27
NKX6-2 12 11 6 1 1 0 8 26
LOC130009366, SACS 0 10 12 7 1 0 0 25
COQ4 17 4 0 0 0 0 0 21
MTPAP 1 1 8 0 2 0 0 12
SACS, SGCG 0 0 0 8 1 0 0 9
MARS2 2 0 4 0 1 0 0 7
TAPBPL, VAMP1 1 2 0 0 3 0 0 6
AFG3L2, TUBB6 0 0 4 0 1 0 0 5
HARS1 4 0 1 0 0 0 0 5
SPG7 4 0 1 0 0 0 0 5
WFS1 0 3 2 0 0 0 0 5
GLRX5 3 1 1 0 0 0 0 4
PNPLA6 2 2 0 0 0 0 0 4
HPDL 3 0 0 0 0 0 0 3
LYST 0 1 2 0 0 0 0 3
SETX 0 2 1 0 0 0 0 3
STXBP1 2 1 0 0 0 0 0 3
CACNA1G 0 2 0 0 0 0 0 2
CCDC88C 0 2 0 0 0 0 0 2
DARS2 1 1 0 0 0 0 0 2
ERCC4 2 0 0 0 0 0 0 2
GALC 1 1 0 0 0 0 0 2
LOC129935364, MARS2 1 1 0 0 0 0 0 2
SYNE1 1 0 0 0 1 0 0 2
AHDC1 0 0 0 0 1 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 0 1
AMPD2 1 0 0 0 0 0 0 1
APOB 0 0 1 0 0 0 0 1
ARSA 1 0 0 0 0 0 0 1
ATP1A2 1 0 0 0 0 0 0 1
ATP2B3 0 1 0 0 0 0 0 1
ATP7B 1 0 0 0 0 0 0 1
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7 0 0 1 0 0 0 0 1
C19orf12 1 0 0 0 0 0 0 1
CACNA1A 0 0 1 0 0 0 0 1
CACNB4 0 1 0 0 0 0 0 1
CEP290 1 0 0 0 0 0 0 1
CHP1 1 0 0 0 0 0 0 1
CLN6 0 1 0 0 0 0 0 1
CYP7B1 1 0 0 0 0 0 0 1
DAB1 0 1 0 0 0 0 0 1
DNMT1 0 1 0 0 0 0 0 1
DNMT1, LOC126862853 0 1 0 0 0 0 0 1
ELOVL4 0 1 0 0 0 0 0 1
EXOSC8 1 0 0 0 0 0 0 1
FA2H 0 1 0 0 0 0 0 1
FAT2 0 0 0 1 0 0 0 1
FLNC 1 0 0 0 0 0 0 1
GJC2 0 1 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 0 1
ITPR1 0 1 0 0 0 0 0 1
KCNMA1 0 0 1 0 0 0 0 1
KIF1A 0 1 0 0 0 0 0 1
LOC129935366, MARS2 0 0 1 0 0 0 0 1
LOC130003597, MTPAP 0 0 0 0 1 0 0 1
LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, SACS 1 0 0 0 0 0 0 1
MKS1 0 1 0 0 0 0 0 1
MT-CO3 0 1 0 0 0 0 0 1
NAGLU 0 0 1 0 0 0 0 1
PEX10 1 0 0 0 0 0 0 1
PIK3R5 0 0 1 0 0 0 0 1
PLA2G6 1 0 0 0 0 0 0 1
POLR3A 1 0 0 0 0 0 0 1
PPT1 0 1 0 0 0 0 0 1
PUM1 0 1 0 0 0 0 0 1
SCN2A 0 1 0 0 0 0 0 1
SCN8A 0 0 1 0 0 0 0 1
SEPSECS 1 0 0 0 0 0 0 1
SLC1A3 0 0 0 0 1 0 0 1
SLC25A46 0 1 0 0 0 0 0 1
SPAST 0 0 1 0 0 0 0 1
SPG11 0 0 1 0 0 0 0 1
SPTAN1 0 1 0 0 0 0 0 1
SYNE2 0 1 0 0 0 0 0 1
TMEM67 0 1 0 0 0 0 0 1
TTBK2 0 0 0 0 1 0 0 1
TUBB3 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 169 218 52 0 0 446
Natera, Inc. 18 3 251 83 32 0 0 387
Genome-Nilou Lab 33 26 114 99 39 0 0 311
Counsyl 8 202 60 3 2 0 0 275
Baylor Genetics 64 173 29 0 0 0 0 266
Illumina Laboratory Services, Illumina 0 1 233 26 2 0 0 262
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 53 101 16 0 0 0 0 170
Fulgent Genetics, Fulgent Genetics 21 80 42 6 1 0 0 150
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 36 38 19 1 4 0 0 98
OMIM 49 0 0 0 0 0 0 49
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 20 0 0 0 0 0 47
Revvity Omics, Revvity 7 9 29 0 0 0 0 45
Myriad Genetics, Inc. 2 25 1 0 0 0 0 28
Paris Brain Institute, Inserm - ICM 26 0 0 0 0 0 0 26
3billion 1 11 3 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 0 3 11 0 0 0 0 14
Yale Center for Mendelian Genomics, Yale University 8 5 0 0 0 0 0 13
GeneReviews 0 0 0 0 0 0 12 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 7 1 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 0 6 1 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 7 0 0 9
Molecular Genetics, Royal Melbourne Hospital 1 1 6 1 0 0 0 9
Mendelics 4 3 0 1 0 0 0 8
Medical Genetics Laboratory, Tarbiat Modares University 8 0 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 3 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 4 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 5 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 2 0 0 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 0 6
Solve-RD Consortium 0 6 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 2 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 2 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 1 0 0 0 0 5
Pars Genome Lab 0 0 1 4 0 0 0 5
Genomics England Pilot Project, Genomics England 1 3 1 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 2 0 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 2 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 1 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 1 0 0 0 0 0 2
Tetreault Lab, University of Montreal Hospital Research Centre (CRCHUM) 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 0 1
Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
CMT Laboratory, Bogazici University 1 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1

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