ClinVar Miner

Variants in gene SLC2A1

Minimum submission review status: Collection method:
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Gene type:
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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
109 42 167 133 54 4 2 437

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 57 21 64 59 27 0 0 209
not specified 0 0 11 60 37 0 0 99
GLUT1 deficiency syndrome 1, autosomal recessive 28 3 61 3 3 0 0 97
Glucose transporter type 1 deficiency syndrome 2 1 33 24 12 0 0 72
Dystonia 0 0 33 24 12 0 0 69
GLUT1 deficiency syndrome 1 25 7 6 0 2 0 0 40
History of neurodevelopmental disorder 3 1 5 12 10 0 0 31
GLUT1 deficiency syndrome 2 11 2 2 0 0 0 1 16
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
Inborn genetic diseases 5 1 2 0 0 0 0 8
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 0 0 4 0 5
Intellectual disability 2 2 0 0 0 0 0 4
Stomatin-deficient cryohydrocytosis with neurologic defects 2 1 1 0 0 0 0 4
Dystonia 9 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; Muscular Diseases; 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

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 50 16 29 58 39 0 0 192
Invitae 25 3 61 53 21 0 0 163
Illumina Clinical Services Laboratory,Illumina 0 0 33 24 12 0 0 69
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 27 4 15 0 0 56
Genetic Services Laboratory, University of Chicago 8 2 12 9 11 0 0 42
Ambry Genetics 8 2 7 12 10 0 0 39
OMIM 20 0 0 0 0 4 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 18 1 0 0 0 23
Athena Diagnostics Inc 1 0 1 2 12 0 0 16
PreventionGenetics,PreventionGenetics 0 0 0 1 7 0 0 8
Mendelics 5 1 0 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 2 0 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 2 2 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 0 3
Raymond Lab,University of Cambridge 1 2 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics,Uniklinik RWTH Aachen 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 0 1
Diagnostic Laboratory,Strasbourg University Hospital 1 0 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
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

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