ClinVar Miner

Variants in gene SETX

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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 not provided total
86 86 1281 766 515 44 2201

Condition and significance breakdown #

Total conditions: 53
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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 33 5 404 537 383 3 1347
not provided 33 31 457 204 129 0 788
Inborn genetic diseases 7 1 449 92 0 0 549
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 39 36 247 76 56 2 435
Amyotrophic lateral sclerosis type 4 7 10 228 96 78 0 400
not specified 0 0 88 86 75 0 225
SETX-related disorder 2 5 100 90 8 0 205
Hereditary spastic paraplegia 0 0 47 18 6 0 71
Amyotrophic lateral sclerosis 0 2 9 0 0 0 11
Cervical cancer 0 0 0 0 0 8 8
Charcot-Marie-Tooth disease 0 0 8 0 0 0 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 8 8
Sarcoma 0 0 0 0 0 7 7
Acute myeloid leukemia 0 0 0 0 0 5 5
Distal spinal muscular atrophy 0 0 4 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 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
Melanoma 0 0 0 0 0 3 3
Spastic ataxia 0 2 1 0 0 0 3
Thymoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Cone-rod dystrophy 0 0 0 2 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Lymphoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Abnormal central motor function 1 0 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 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
Cholangiocarcinoma 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Dystonic disorder; Mental deterioration 0 0 1 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 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
Spastic paraplegia 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Tay-Sachs disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 5 381 540 383 0 1342
Ambry Genetics 7 1 449 92 0 0 549
Athena Diagnostics 10 13 217 47 71 0 358
GeneDx 16 7 157 76 98 0 354
PreventionGenetics, part of Exact Sciences 2 5 100 96 33 0 236
Genome-Nilou Lab 4 10 103 67 38 0 216
Illumina Laboratory Services, Illumina 1 0 132 45 57 0 188
CeGaT Center for Human Genetics Tuebingen 6 5 84 67 9 0 171
Mayo Clinic Laboratories, Mayo Clinic 2 1 73 33 41 0 150
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 54 50 0 0 108
Breakthrough Genomics, Breakthrough Genomics 0 0 9 31 44 0 84
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 22 25 19 0 66
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
Revvity Omics, Revvity 3 5 36 0 0 0 44
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 39 39
Clinical Genetics, Academic Medical Center 0 0 1 11 26 0 38
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
Neuberg Centre For Genomic Medicine, NCGM 0 6 14 0 0 0 20
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 15 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 16 0 0 0 16
Fulgent Genetics, Fulgent Genetics 0 0 13 3 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 11 0 15
OMIM 14 0 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 2 1 2 8 0 0 13
Inherited Neuropathy Consortium 0 0 10 0 0 0 10
3billion 5 3 1 0 0 0 9
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
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 7 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 6 0 0 0 7
Mendelics 1 2 1 0 3 0 7
Variantyx, Inc. 3 4 0 0 0 0 7
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 3 2 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 2 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 1 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 2 0 0 3
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 2 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 2 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 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
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Next Generation Genetic Polyclinic 1 1 1 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 2 1 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 2 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 1 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 2
Paris Brain Institute, Inserm - ICM 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
Department of Neurology, Brain Research Institute, Niigata University 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Sadaf Naz Human Genetics Laboratory, University of the Punjab 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1

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