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
92 31 144 101 45 4 2 362

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 50 20 59 1 4 0 0 133
GLUT1 deficiency syndrome 1, autosomal recessive 20 2 43 22 16 0 0 102
not specified 0 0 11 61 37 0 0 99
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 23 3 6 0 2 0 0 34
History of neurodevelopmental disorder 3 1 5 13 9 0 0 31
GLUT1 deficiency syndrome 2 10 1 1 0 0 0 1 13
Epilepsy, idiopathic generalized, susceptibility to, 12 6 0 1 0 0 4 0 11
Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 3 1 5 0 0 0 0 9
Inborn genetic diseases 5 1 2 0 0 0 0 8
Stomatin-deficient cryohydrocytosis with neurologic defects 2 0 1 0 0 0 0 3
Dystonia 9 2 0 0 0 0 0 0 2
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
Intellectual disability 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 46 16 29 48 32 0 0 171
Invitae 17 2 43 22 16 0 0 100
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 13 9 0 0 39
OMIM 20 0 0 0 0 4 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 10 1 0 0 0 14
Athena Diagnostics Inc 0 0 1 3 9 0 0 13
PreventionGenetics 0 0 0 1 7 0 0 8
Fulgent Genetics 2 1 2 0 0 0 0 5
HudsonAlpha Institute for Biotechnology 1 2 1 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
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
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 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
Mendelics 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,Klinikum rechts der Isar 1 0 0 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 0 1

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