Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0027066
Disease: Myoclonus
Myoclonus 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518953
rs1057518953
SLC2A1
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909739
rs121909739
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		T 0.810 CausalMutation CLINVAR

dbSNP: rs121909739
rs121909739
SLC2A1
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome. 27351150

2016
dbSNP: rs121909739
rs121909739
SLC2A1
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 18451999

2008
dbSNP: rs121909739
rs121909739
SLC2A1
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. 11076005

2000
dbSNP: rs121909739
rs121909739
SLC2A1
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. 26615598

2016
dbSNP: rs121909740
rs121909740
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121909740
rs121909740
SLC2A1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796

2012
dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR The many faces of Glut1 deficiency syndrome. 23340081

2014
dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345986424
rs1345986424
SLC2A1
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1413339367
rs1413339367
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636

2009
dbSNP: rs1413339367
rs1413339367
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876

2012
dbSNP: rs1413339367
rs1413339367
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420

2011