ClinVar Miner

Variants in gene SETX

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 not provided total
68 64 939 600 447 4 1690

Condition and significance breakdown #

Total conditions: 28
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 22 5 293 421 316 2 1047
not provided 25 27 310 152 128 0 594
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 27 22 244 77 56 2 411
Amyotrophic lateral sclerosis type 4 6 6 212 95 78 0 379
Inborn genetic diseases 7 1 290 64 1 0 363
not specified 0 0 51 32 62 0 132
SETX-related condition 0 1 51 72 7 0 131
Hereditary spastic paraplegia 0 0 47 18 6 0 71
Amyotrophic lateral sclerosis 0 2 8 0 0 0 10
Charcot-Marie-Tooth disease 0 0 8 0 0 0 8
Amyotrophic Lateral Sclerosis, Dominant 0 0 4 1 1 0 6
Distal spinal muscular atrophy 0 0 4 0 0 0 4
See cases 0 0 3 1 0 0 4
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 1 2 0 0 0 3
Frontotemporal dementia 0 3 0 0 0 0 3
Spastic ataxia 0 2 1 0 0 0 3
Abnormal central motor function 1 0 0 0 0 0 1
Cerebellar ataxia 1 0 0 0 0 0 1
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 0 1 0 0 0 0 1
Cerebral palsy 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2 0 0 1 0 0 0 1
Dystonic disorder; Mental deterioration 0 0 1 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 0 0 1 0 0 0 1
Proximal spinal muscular atrophy 0 0 1 0 0 0 1
SETX-Related Disorders 0 0 1 0 0 0 1
Spastic paraplegia 0 0 1 0 0 0 1
Tay-Sachs disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 5 284 426 316 0 1053
Ambry Genetics 7 1 290 64 1 0 363
Athena Diagnostics Inc 5 13 168 24 68 0 278
GeneDx 9 6 86 76 98 0 275
Genome-Nilou Lab 4 10 103 67 38 0 216
Illumina Laboratory Services, Illumina 1 0 137 46 58 0 195
PreventionGenetics, part of Exact Sciences 0 1 51 78 32 0 162
CeGaT Center for Human Genetics Tuebingen 5 3 65 44 8 0 125
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 44 18 6 0 68
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 20 13 18 0 51
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 21 24 0 47
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 21 23 0 45
Clinical Genetics, Academic Medical Center 0 0 1 11 26 0 38
Revvity Omics, Revvity 3 3 30 0 0 0 36
Mayo Clinic Laboratories, Mayo Clinic 2 0 32 0 0 0 34
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 10 20 0 30
Eurofins Ntd Llc (ga) 2 0 4 0 14 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 11 4 0 0 17
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 15 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 11 0 15
OMIM 14 0 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 0 0 10 3 0 0 13
Genetic Services Laboratory, University of Chicago 1 1 2 8 0 0 12
Inherited Neuropathy Consortium 0 0 10 0 0 0 10
Baylor Genetics 2 1 6 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 8 0 8
MGZ Medical Genetics Center 0 3 5 0 0 0 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 1 0 2 4 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 6 0 0 0 8
Mendelics 1 2 1 0 3 0 7
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 7 0 0 0 7
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 3 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 1 1 0 5
UM ALS/MND Lab, University Of Malta 0 2 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 1 0 0 4
Institute of Human Genetics, Cologne University 1 0 2 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 2 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 2 1 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 3
Guerreiro-Bras Laboratory, Van Andel Institute 0 3 0 0 0 0 3
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 3 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 1 0 1 0 0 0 2
3billion 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 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.