ClinVar Miner

Variants in gene SLC2A1

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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 risk factor not provided total
137 55 254 135 71 4 3 572

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GLUT1 deficiency syndrome 1, autosomal recessive 55 8 143 60 21 0 0 285
not provided 65 20 65 33 14 0 0 189
GLUT1 deficiency syndrome 1 28 12 47 3 39 0 0 126
not specified 0 0 10 60 37 0 0 99
Dystonia 9 2 0 44 3 39 0 0 88
History of neurodevelopmental disorder 3 1 5 12 10 0 0 31
GLUT1 deficiency syndrome 2 13 5 4 0 0 0 1 23
GLUT1 deficiency syndrome 2 1 10 1 2 0 1 17
Inborn genetic diseases 9 0 6 0 0 0 0 15
Dystonia 0 0 10 1 2 0 0 13
Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 4 1 5 0 0 0 0 10
Intellectual disability 2 6 0 0 0 0 0 8
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 2 0 1 4 0 7
Stomatin-deficient cryohydrocytosis with neurologic defects 3 1 1 0 0 0 0 4
Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 2 0 0 0 0 0 0 2
Abnormality of metabolism/homeostasis; Microcephaly 0 1 0 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Seizures; Microcephaly; Myoclonus 1 0 0 0 0 0 0 1
Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 0 0 0 0 1 1
Epilepsy; Microcephaly; intellectual deficiency 0 1 0 0 0 0 0 1
Global developmental delay; Seizures; Strabismus 1 0 0 0 0 0 0 1
Migraine; Myopathy; Muscle weakness; Abnormality of the musculature; Myalgia; Exercise-induced myalgia; Increased muscle glycogen content 0 0 1 0 0 0 0 1
Paroxysmal dystonia 0 1 0 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 0 1
SLC2A1-Related Disorders 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 52 8 143 75 21 0 0 299
GeneDx 50 16 29 58 39 0 0 192
Illumina Clinical Services Laboratory,Illumina 0 0 52 4 41 0 0 97
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 1 27 4 15 0 0 56
Ambry Genetics 12 1 11 12 10 0 0 46
Genetic Services Laboratory, University of Chicago 8 2 11 10 11 0 0 42
CeGaT Praxis fuer Humangenetik Tuebingen 10 3 20 5 0 0 0 38
OMIM 20 0 0 0 0 4 0 24
Athena Diagnostics Inc 1 0 1 2 12 0 0 16
Baylor Genetics 4 0 4 0 0 0 0 8
PreventionGenetics, PreventionGenetics 0 0 0 1 7 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 4 0 0 0 0 0 7
Mendelics 5 1 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 3 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 2 2 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 1 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 0 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Raymond Lab,University of Cambridge 1 2 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 1 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche,Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1 0 0 0 0 0 0 1

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