ClinVar Miner

Variants in gene SPG11

See also:
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 association not provided total
407 130 1404 1365 112 1 1 93 3195

Condition and significance breakdown #

Total conditions: 24
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Hereditary spastic paraplegia 11 376 91 1191 1256 69 1 0 82 2869
not provided 73 24 198 139 56 0 0 0 462
Inborn genetic diseases 25 2 283 71 1 0 0 0 382
Amyotrophic lateral sclerosis type 5 16 3 153 30 8 0 0 0 209
Charcot-Marie-Tooth disease axonal type 2X 12 1 150 30 8 0 0 0 199
Hereditary spastic paraplegia 24 21 71 17 15 0 0 0 145
not specified 0 0 25 31 35 0 0 0 75
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 9 4 13 3 2 0 0 7 38
Amyotrophic lateral sclerosis 0 0 10 0 0 0 0 0 10
SPG11-related condition 3 4 3 0 0 0 0 0 10
Abnormal central motor function 5 2 0 0 0 0 0 0 7
Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X; Juvenile amyotrophic lateral sclerosis 0 0 0 0 0 0 0 5 5
Spastic Paraplegia, Recessive 0 0 3 1 0 0 0 0 4
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11 1 0 1 0 0 0 0 1 3
Intellectual disability 0 0 3 0 0 0 0 0 3
See cases 0 2 1 0 0 0 0 0 3
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 0 2 0 0 0 0 0 0 2
SPG11-related spastic paraplegia 2 0 0 0 0 0 0 0 2
Spastic paraplegia 1 1 0 0 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 0 0 1
Autism spectrum disorder 0 0 0 0 0 0 1 0 1
Early-onset Parkinson disease 20 1 0 0 0 0 0 0 0 1
Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 1 0 0 0 0 0 0 0 1
Spastic ataxia 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Invitae 324 49 1065 1230 67 0 0 0 2735
Ambry Genetics 25 2 283 71 1 0 0 0 382
GeneDx 39 13 92 104 64 0 0 0 312
Genome-Nilou Lab 53 17 147 30 8 0 0 0 255
Illumina Laboratory Services, Illumina 2 1 128 13 12 0 0 0 156
Genome Diagnostics Laboratory, The Hospital for Sick Children 13 8 69 17 15 0 0 0 122
CeGaT Center for Human Genetics Tuebingen 13 3 42 37 8 0 0 0 103
GeneReviews 14 0 0 0 0 0 0 81 95
Athena Diagnostics Inc 17 5 32 7 24 0 0 0 85
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 13 11 10 2 0 0 0 49
Mayo Clinic Laboratories, Mayo Clinic 4 0 43 0 0 0 0 0 47
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 23 18 0 0 0 37
Clinical Genetics, Academic Medical Center 0 0 5 7 19 0 0 0 31
Paris Brain Institute, Inserm - ICM 31 0 0 0 0 0 0 0 31
Fulgent Genetics, Fulgent Genetics 8 3 13 3 2 0 0 0 29
Revvity Omics, Revvity Omics 10 0 18 0 0 0 0 0 28
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 8 14 0 0 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 14 1 0 0 0 20
Baylor Genetics 8 0 11 0 0 0 0 0 19
Eurofins Ntd Llc (ga) 4 0 11 2 1 0 0 0 18
OMIM 15 0 0 0 0 0 0 0 15
Mendelics 9 1 3 1 1 0 0 0 15
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 4 7 0 0 0 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 2 1 10 0 0 0 14
Genetic Services Laboratory, University of Chicago 1 1 4 7 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 5 4 0 0 0 13
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 13 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 8 0 0 0 0 0 12
Preventiongenetics, part of Exact Sciences 3 4 3 0 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 0 0 0 0 0 0 0 9
Broad Institute Rare Disease Group, Broad Institute 7 1 0 0 1 0 0 0 9
UM ALS/MND Lab, University Of Malta 0 0 9 0 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 4 0 0 0 0 0 8
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 7 1 0 0 0 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 5 1 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 5 2 0 0 0 0 0 0 7
3billion 5 1 1 0 0 0 0 0 7
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 4 1 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 2 0 0 0 0 0 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 2 2 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 0 0 4
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 2 0 2 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 0 0 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 3 1 0 0 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 2 1 1 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 3 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 2 1 0 0 0 0 0 3
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 2 0 1 0 0 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 0 0 2
Department of Biochemistry, Faculty of Medicine, University of Khartoum 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 2
Department of Neurology, The Affiliated Hospital of Zunyi Medical University 2 0 0 0 0 0 0 0 2
Next Generation Genetic Polyclinic 0 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 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 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 0 1
Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow 0 1 0 0 0 0 0 0 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province 0 0 0 0 0 1 0 0 1
DASA 1 0 0 0 0 0 0 0 1
Razi Pathobiology & Medical Genetics 1 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.