ClinVar Miner

Variants in gene SPG11

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Gene type:

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
472 228 1601 1530 115 1 1 148 3693

Condition and significance breakdown #

Total conditions: 53
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Hereditary spastic paraplegia 11 426 117 1231 1403 70 1 0 82 3129
not provided 98 36 343 182 60 0 0 0 685
Inborn genetic diseases 26 2 485 78 1 0 0 0 592
Amyotrophic lateral sclerosis type 5 16 7 156 31 8 0 0 0 217
Charcot-Marie-Tooth disease axonal type 2X 15 9 155 30 8 0 0 0 214
Hereditary spastic paraplegia 39 20 71 17 15 0 0 0 158
not specified 0 0 70 50 42 0 0 0 144
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 32 64 17 3 2 0 0 10 124
SPG11-related disorder 10 6 12 31 5 0 0 0 64
Amyotrophic lateral sclerosis 0 0 10 0 0 0 0 0 10
Hepatocellular carcinoma 0 0 0 0 0 0 0 8 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 0 8 8
Familial cancer of breast 0 0 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 0 0 7 7
Abnormal central motor function 3 2 0 0 0 0 0 0 5
Acute myeloid leukemia 0 0 0 0 0 0 0 5 5
Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X; Juvenile amyotrophic lateral sclerosis 0 0 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 0 5 5
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11 1 0 2 0 0 0 0 1 4
Autosomal recessive SPG11-related disorders 2 2 0 0 0 0 0 0 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 0 4 4
See cases 1 2 1 0 0 0 0 0 4
Cervical cancer 0 0 0 0 0 0 0 3 3
Intellectual disability 0 0 3 0 0 0 0 0 3
Sarcoma 0 0 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 0 3 3
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 0 2 0 0 0 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 0 2 2
Metabolic disease 2 0 0 0 0 0 0 0 2
Neurofibromatosis, type 1 0 0 0 0 2 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
Thymoma 0 0 0 0 0 0 0 2 2
Abnormal brain morphology 0 1 0 0 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 0 0 1 1
Amyotrophic lateral sclerosis type 5; Charcot-Marie-Tooth disease axonal type 2X 0 0 1 0 0 0 0 0 1
Autism spectrum disorder 0 0 0 0 0 0 1 0 1
Cerebral amyloid angiopathy, APP-related 1 0 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease 0 1 0 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 0 0 1 1
Early-onset Parkinson disease 20 1 0 0 0 0 0 0 0 1
Hereditary neuropathy or pain disorder 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
Lung cancer 0 0 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 0 1 1
Spastic ataxia 0 0 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 369 59 1103 1377 68 0 0 0 2976
Ambry Genetics 26 2 485 78 1 0 0 0 592
GeneDx 52 18 173 103 64 0 0 0 410
Genome-Nilou Lab 53 17 147 30 8 0 0 0 255
Mayo Clinic Laboratories, Mayo Clinic 10 7 101 30 27 0 0 0 175
CeGaT Center for Human Genetics Tuebingen 24 3 72 64 8 0 0 0 171
Illumina Laboratory Services, Illumina 3 1 119 12 12 0 0 0 147
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 16 57 30 3 0 0 0 137
Genome Diagnostics Laboratory, The Hospital for Sick Children 13 8 69 17 15 0 0 0 122
Athena Diagnostics 20 5 51 9 29 0 0 0 114
Fulgent Genetics, Fulgent Genetics 31 59 15 3 2 0 0 0 110
GeneReviews 14 0 0 0 0 0 0 81 95
PreventionGenetics, part of Exact Sciences 7 5 10 31 5 0 0 0 58
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 0 55 55
Breakthrough Genomics, Breakthrough Genomics 0 0 12 23 14 0 0 0 49
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
Revvity Omics, Revvity 12 2 16 0 0 0 0 0 30
Neuberg Centre For Genomic Medicine, NCGM 8 9 12 0 0 0 0 0 28
3billion 14 6 6 0 0 0 0 0 26
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 3 8 0 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 6 6 5 0 0 0 0 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 16 16
Mendelics 9 1 3 1 1 0 0 0 15
OMIM 15 0 0 0 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 2 1 4 7 0 0 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 2 1 10 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 4 5 4 0 0 0 13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 2 0 0 1 0 0 0 10
Variantyx, Inc. 6 4 0 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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 3 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
Institute of Human Genetics Munich, TUM University Hospital 6 1 0 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 2 0 0 0 0 0 6
Next Generation Genetic Polyclinic 2 2 2 0 0 0 0 0 6
Solve-RD Consortium 0 6 0 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 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 4 0 1 0 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 2 1 1 0 0 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 0 0 2 0 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 2 0 0 0 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 1 2 0 1 0 0 0 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 1 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
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
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 2 0 2 0 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 3 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
Centre of Medical Genetics, University Hospital Muenster 1 1 1 0 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 1 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 0 0 3
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 2 0 1 0 0 0 0 0 3
Dasa 2 0 0 1 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 0 0 3
Genetic Foundation of Khorasan Razavi (GFKR) 2 0 1 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 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
Department of Neurology, The Affiliated Hospital of Zunyi Medical University 2 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 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 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 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
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 0 2
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 2 0 0 0 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 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
Department of Human Genetics, Hannover Medical School 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
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
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 0 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 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
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Leeds Institute of Medical Research, University of Leeds 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
Molecular Genetics Lab, CHRU Brest 1 0 0 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
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 0 1
Razi Pathobiology & Medical Genetics 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 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
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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 0 1

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