SLC2A1 (solute carrier family 2 member 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: SLC2A1 (solute carrier family 2 member 1) Homo sapiens
Analyze
Symbol: SLC2A1
Name: solute carrier family 2 member 1
RGD ID: 737272
HGNC Page HGNC:11005
Description: Enables D-glucose transmembrane transporter activity; identical protein binding activity; and organic anion transmembrane transporter activity. Involved in import across plasma membrane; photoreceptor cell maintenance; and protein-containing complex assembly. Acts upstream of or within central nervous system development and transport across blood-brain barrier. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and midbody. Part of glucose transporter complex. Implicated in childhood absence epilepsy; glucose transporter type 1 deficiency syndrome (multiple); myelomeningocele; obesity; and type 2 diabetes mellitus. Biomarker of several diseases, including Alzheimer's disease; Hirschsprung's disease; hemangioma; nephroblastoma; and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity); CSE; dystonia gene 18; dystonia gene 9; DYT17; DYT18; DYT9; EIG12; glucose transporter type 1, erythrocyte/brain; GLUT; GLUT-1; GLUT1; GLUT1DS; hepG2 glucose transporter; HTLVR; human T-cell leukemia virus (I and II) receptor; MGC141895; MGC141896; PED; receptor for HTLV-1 and HTLV-2; SDCHCN; solute carrier family 2 (facilitated glucose transporter), member 1; solute carrier family 2, facilitated glucose transporter member 1; solute carrier family 2,member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SLC2AXP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38142,925,353 - 42,958,868 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl142,925,353 - 42,958,893 (-)Ensemblhg38GRCh38
GRCh37143,391,024 - 43,424,539 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,164,102 - 43,197,088 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34143,060,611 - 43,093,594NCBI
Celera141,673,133 - 41,706,939 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef141,511,000 - 41,544,561 (-)NCBIHuRef
CHM1_1143,507,796 - 43,541,586 (-)NCBICHM1_1
T2T-CHM13v2.0142,795,821 - 42,829,338 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
alcohol dependence  (ISO)
Alcohol-Related Disorders  (ISO)
Alzheimer's disease  (IEP)
Ataxia  (EXP)
benign epilepsy with centrotemporal spikes  (IAGP)
Breast Neoplasms  (EXP)
cataract  (ISO)
cerebellar ataxia  (IAGP)
Charcot-Marie-Tooth disease dominant intermediate C  (IAGP)
childhood absence epilepsy  (IAGP)
chromosome 17q23.1-q23.2 deletion syndrome  (IAGP)
Colonic Neoplasms  (EXP)
Developmental Disabilities  (EXP)
Developmental Disease  (IAGP)
diabetes mellitus  (IEP)
Diabetic Nephropathies  (IAGP,ISO)
Ductal Carcinoma  (EXP)
ductal carcinoma in situ  (EXP)
dystonia  (IAGP)
dystonia 9  (EXP,IAGP)
epilepsy  (IAGP)
Experimental Diabetes Mellitus  (ISO)
Fetal Growth Retardation  (ISO)
genetic disease  (IAGP)
glomerulosclerosis  (ISO)
glucose transporter type 1 deficiency syndrome  (EXP,IAGP,ISO)
glucose transporter type 1 deficiency syndrome 1  (IAGP,ISS)
glucose transporter type 1 deficiency syndrome 2  (IAGP)
hemangioma  (IEP)
hepatocellular carcinoma  (EXP)
Hirschsprung's disease  (IEP)
hypertension  (ISO)
hypothyroidism  (ISO)
Idiopathic Generalized Epilepsy 12  (IAGP)
Infantile Capillary Hemangioma  (IEP)
inherited metabolic disorder  (EXP)
intellectual disability  (EXP,IAGP)
junctional epidermolysis bullosa Herlitz type  (IAGP)
Liver Neoplasms  (EXP)
malignant mesothelioma  (EXP)
Metabolic Syndrome  (ISO)
microcephaly  (EXP,IAGP)
middle cerebral artery infarction  (ISO)
migraine  (IAGP)
Muscle Weakness  (IAGP)
Myalgia  (IAGP)
myelomeningocele  (IAGP)
Myocardial Reperfusion Injury  (ISO)
myoclonic-atonic epilepsy  (IAGP)
myopathy  (IAGP)
Neoplastic Cell Transformation  (EXP)
nephroblastoma  (IEP)
nervous system disease  (EXP)
obesity  (IDA)
osteoarthritis  (EXP)
Ovarian Neoplasms  (EXP)
Peritoneal Neoplasms  (EXP)
pre-eclampsia  (IEP)
renal cell carcinoma  (EXP)
Reperfusion Injury  (ISO)
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  (EXP,IAGP)
type 2 diabetes mellitus  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(E)-cinnamyl alcohol  (ISO)
(S)-naringenin  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dinitrophenol  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dimethoxyphenol  (EXP)
2-deoxy-2-((18)F)fluoro-D-glucose  (EXP,ISO)
2-deoxy-D-glucose  (EXP,ISO)
2-methoxy-17beta-estradiol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-dihydroxybenzoic acid  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-bromopyruvic acid  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
3-O-methyl-D-glucose  (EXP)
3-Phenyl-1-propanol  (ISO)
3-phenylprop-2-enal  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP)
5-fluorouracil  (EXP)
7-hydroxyflavone  (EXP)
acadesine  (EXP)
acarbose  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha,alpha-trehalose  (ISO)
alpha-naphthoflavone  (EXP)
aluminium atom  (EXP)
aluminium(0)  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
anthracene-1,8,9-triol  (ISO)
antirheumatic drug  (EXP)
Apaziquone  (EXP)
apigenin  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
ATP  (EXP)
atrazine  (EXP)
Azaspiracid  (EXP)
azide  (ISO)
barbiturates  (EXP)
beauvericin  (EXP)
benzaldehyde  (ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP,ISO)
beta-lapachone  (EXP)
beta-naphthoflavone  (EXP,ISO)
bicalutamide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
bruceine D  (EXP)
bucladesine  (EXP)
bupivacaine  (ISO)
butan-1-ol  (ISO)
butylated hydroxyanisole  (ISO)
Butylbenzyl phthalate  (ISO)
butyric acid  (EXP,ISO)
cadmium acetate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CCCP  (EXP)
ceftriaxone  (ISO)
celecoxib  (EXP,ISO)
chloral hydrate  (EXP)
chloroacetaldehyde  (EXP)
chloroform  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cholic acid  (ISO)
chromium atom  (ISO)
chromium(6+)  (EXP,ISO)
cidofovir anhydrous  (EXP)
cinnamyl alcohol  (ISO)
ciprofloxacin  (EXP)
cisplatin  (EXP,ISO)
citalopram  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
corosolic acid  (ISO)
corticosterone  (ISO)
crotonaldehyde  (ISO)
cumene  (ISO)
curcumin  (EXP,ISO)
Cyclofenil  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
cytochalasin B  (EXP,ISO)
D-glucose  (EXP,ISO)
dacarbazine  (EXP)
daidzein  (EXP)
DDE  (EXP,ISO)
DDT  (EXP)
deguelin  (EXP)
Deoxycorticosterone acetate  (ISO)
deoxynivalenol  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
Di-n-octyl phthalate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
diazepam  (EXP)
dibenz[a,h]anthracene  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (ISO)
diethylstilbestrol  (EXP)
Dihydrotanshinone I  (EXP)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (EXP)
dinophysistoxin 1  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enniatin  (EXP)
epoxiconazole  (ISO)
escitalopram  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
eupatilin  (EXP)
fenbendazole  (EXP)
fenthion  (ISO)
folic acid  (EXP)
formaldehyde  (EXP,ISO)
fulvestrant  (ISO)
furfural  (EXP)
Fusaric acid  (ISO)
Genipin  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
gentamycin C  (ISO)
glucose  (EXP,ISO)
glycidyl methacrylate  (EXP)
glycine  (EXP)
glyphosate  (EXP,ISO)
hexadecanoic acid  (EXP)
hispidulin  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (ISO)
hydroquinone  (ISO)
ibuprofen  (EXP)
Icaritin  (EXP)
ifosfamide  (EXP)
indometacin  (ISO)
iron dichloride  (ISO)
isoliquiritigenin  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP,ISO)
kaempferide  (EXP)
kaempferol  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-cysteine  (ISO)
L-dehydroascorbic acid  (EXP,ISO)
L-mimosine  (EXP,ISO)
lanthanum trichloride  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP,ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
luteolin  (EXP)
LY294002  (EXP,ISO)
mebendazole  (EXP)
menadione  (EXP,ISO)
mercaptoethanol  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (EXP,ISO)
methylene blue  (ISO)
methylmercury chloride  (EXP,ISO)
Mezerein  (ISO)
mifepristone  (ISO)
minocycline  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Monobutylphthalate  (EXP,ISO)
monosodium L-glutamate  (ISO)
myricetin  (EXP)
N(4)-hydroxycytidine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (EXP,ISO)
nickel subsulfide  (ISO)
nickel sulfate  (ISO)
niclosamide  (EXP)
Niflumic acid  (ISO)
nimesulide  (ISO)
nobiletin  (EXP)
Nonidet P-40  (EXP)
ochratoxin A  (EXP)
ofloxacin  (EXP)
okadaic acid  (EXP,ISO)
oleic acid  (EXP)
organoselenium compound  (EXP)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
palytoxin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
pentobarbital  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
Pf-06840003  (EXP)
phenobarbital  (EXP,ISO)
phenylarsine oxide  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phloretin  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pifithrin-alpha hydrobromide  (EXP,ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
probenecid  (ISO)
prochloraz  (EXP)
progesterone  (EXP,ISO)
promethazine  (ISO)
propanal  (ISO)
propofol  (EXP)
prostaglandin E2  (ISO)
protoporphyrin  (EXP)
puerarin  (ISO)
Pyridostigmine bromide  (ISO)
pyrithiamine  (ISO)
quercetin  (EXP)
ranitidine  (ISO)
resveratrol  (EXP,ISO)
rofecoxib  (ISO)
rotenone  (EXP,ISO)
roxadustat  (EXP)
saccharin  (ISO)
sarpogrelate  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sevoflurane  (EXP,ISO)
sildenafil citrate  (ISO)
silibinin  (EXP)
sinensetin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium azide  (ISO)
sodium chloride  (EXP,ISO)
sodium dichromate  (EXP)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tadalafil  (ISO)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetraethylenepentamine  (EXP)
tetrathiomolybdate(2-)  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
tin(II) chloride (anhydrous)  (ISO)
titanium dioxide  (ISO)
tolbutamide  (ISO)
tolfenamic acid  (EXP)
toluene  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP,ISO)
tunicamycin  (EXP,ISO)
ubiquinone-0  (EXP)
valproic acid  (EXP,ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
Yessotoxin  (EXP)
zidovudine  (EXP)
zinc acetate  (ISO)
zinc atom  (ISO)
zinc dichloride  (EXP,ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal emotional state  (IAGP)
Abnormal erythrocyte morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal pyramidal tract morphology  (IAGP)
Abnormal social behavior  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of the musculature  (IAGP)
Absent speech  (IAGP)
Aggressive behavior  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apraxia  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Brachydactyly  (IAGP)
Brain imaging abnormality  (IAGP)
Broad neck  (IAGP)
Broad philtrum  (IAGP)
Cataract  (IAGP)
Central apnea  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral white matter hypoplasia  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cognitive impairment  (IAGP)
Communicating hydrocephalus  (IAGP)
Confusion  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Convulsive status epilepticus  (IAGP)
Cyanosis  (IAGP)
Decreased thalamic volume  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depression  (IAGP)
Diplopia  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dyslexia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with focal spike waves  (IAGP)
EEG with generalized slow activity  (IAGP)
EEG with irregular generalized spike and wave complexes  (IAGP)
EEG with polyspike wave complexes  (IAGP)
EEG with spike-wave complexes (2.5-3.5 Hz)  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Episodic ataxia  (IAGP)
Exercise-induced myalgia  (IAGP)
Extrapyramidal dyskinesia  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Fetal distress  (IAGP)
Focal-onset seizure  (IAGP)
Frontal balding  (IAGP)
Generalized hyperreflexia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized myoclonic-atonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Headache  (IAGP)
Hemiparesis  (IAGP)
Hemolytic anemia  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperactivity  (IAGP)
Hyperkalemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hyperventilation  (IAGP)
Hypoglycorrhachia  (IAGP)
Hypotonia  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Inability to walk  (IAGP)
Increased CSF lactate  (IAGP)
Increased intracellular sodium  (IAGP)
Increased muscle glycogen content  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Interictal epileptiform activity  (IAGP)
Intracerebral periventricular calcifications  (IAGP)
Involuntary movements  (IAGP)
Irritability  (IAGP)
Jaundice  (IAGP)
Jerky head movements  (IAGP)
Juvenile onset  (IAGP)
Lack of peer relationships  (IAGP)
Lethargy  (IAGP)
Limb myoclonus  (IAGP)
Long philtrum  (IAGP)
Low self-esteem  (IAGP)
Lower limb spasticity  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Migraine  (IAGP)
Moderate albuminuria  (IAGP)
Muscle stiffness  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myoclonic absence seizure  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Nuclear cataract  (IAGP)
Nystagmus  (IAGP)
Pallor  (IAGP)
Paralysis  (IAGP)
Paresthesia  (IAGP)
Paroxysmal dyskinesia  (IAGP)
Paroxysmal dystonia  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Paroxysmal lethargy  (IAGP)
Polyhydramnios  (IAGP)
Postnatal growth retardation  (IAGP)
Premature skin wrinkling  (IAGP)
Progressive microcephaly  (IAGP)
Prominent forehead  (IAGP)
Punding  (IAGP)
Recurrent infections  (IAGP)
Reduced haptoglobin level  (IAGP)
Reduced social responsiveness  (IAGP)
Reticulocytosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Simple febrile seizure  (IAGP)
Sleep abnormality  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Splenomegaly  (IAGP)
Spontaneous hemolytic crises  (IAGP)
Status epilepticus  (IAGP)
Stomatocytosis  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick nasal alae  (IAGP)
Thin upper lip vermilion  (IAGP)
Torsion dystonia  (IAGP)
Tremor  (IAGP)
Truncal ataxia  (IAGP)
Typical absence seizure  (IAGP)
Typified by incomplete penetrance  (IAGP)
Uncontrolled eye movements  (IAGP)
Unsteady gait  (IAGP)
Urinary incontinence  (IAGP)
Variable expressivity  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Zonular cataract  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Effects of ceftriaxone on ethanol intake: a possible role for xCT and GLT-1 isoforms modulation of glutamate levels in P rats. Alhaddad H, etal., Psychopharmacology (Berl). 2014 Oct;231(20):4049-57. doi: 10.1007/s00213-014-3545-y. Epub 2014 Apr 1.
2. Association of HaeIII single nucleotide polymorphisms in the SLC2A1 gene with risk of diabetic nephropathy; evidence from Kurdish patients with type 2 diabetes mellitus. Amini S, etal., QJM. 2016 Jun;109(6):399-404. doi: 10.1093/qjmed/hcv149. Epub 2015 Sep 3.
3. Affected sib-pair analysis of the GLUT1 glucose transporter gene locus in non-insulin-dependent diabetes mellitus (NIDDM): evidence for no linkage. Baroni MG, etal., Hum Genet. 1994 Jun;93(6):675-80.
4. The cellular fate of glucose and its relevance in type 2 diabetes. Bouche C, etal., Endocr Rev. 2004 Oct;25(5):807-30.
5. A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele. Cormier CM, etal., Reprod Sci. 2011 May;18(5):463-8. doi: 10.1177/1933719110388293. Epub 2010 Dec 6.
6. Binge ethanol withdrawal: Effects on post-withdrawal ethanol intake, glutamate-glutamine cycle and monoamine tissue content in P rat model. Das SC, etal., Behav Brain Res. 2016 Apr 15;303:120-5. doi: 10.1016/j.bbr.2016.01.052. Epub 2016 Jan 25.
7. Diabetes alters the expression and activity of the human placental GLUT1 glucose transporter. Gaither K, etal., J Clin Endocrinol Metab. 1999 Feb;84(2):695-701.
8. GLUT-1 overexpression: Link between hemodynamic and metabolic factors in glomerular injury? Gnudi L, etal., Hypertension. 2003 Jul;42(1):19-24. Epub 2003 May 27.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Development of cataractous macrophthalmia in mice expressing an active MEK1 in the lens. Gong X, etal., Invest Ophthalmol Vis Sci. 2001 Mar;42(3):539-48.
11. GLUT1 gene polymorphism in non-insulin-dependent diabetes mellitus: genetic susceptibility relationship with cardiovascular risk factors and microangiopathic complications in a Mediterranean population. Gutierrez C, etal., Diabetes Res Clin Pract. 1998 Aug;41(2):113-20.
12. Pre-germinated brown rice extract ameliorates high-fat diet-induced metabolic syndrome. Hao CL, etal., J Food Biochem. 2019 Mar;43(3):e12769. doi: 10.1111/jfbc.12769. Epub 2019 Jan 13.
13. SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome. Hashimoto N, etal., J Hum Genet. 2011 Dec;56(12):846-51. doi: 10.1038/jhg.2011.115. Epub 2011 Oct 20.
14. A novel polymorphism in the 5' flanking region of the glucose transporter (GLUT1) gene is strongly associated with diabetic nephropathy in patients with Type 1 diabetes mellitus. Hodgkinson AD, etal., J Diabetes Complications. 2005 Mar-Apr;19(2):65-9.
15. Cell surface labeling of glucose transporter isoform GLUT4 by bis-mannose photolabel. Correlation with stimulation of glucose transport in rat adipose cells by insulin and phorbol ester. Holman GD, etal., J Biol Chem. 1990 Oct 25;265(30):18172-9.
16. Influence of blood glucose on the expression of glucose trans-porter proteins 1 and 3 in the brain of diabetic rats. Hou WK, etal., Chin Med J (Engl). 2007 Oct 5;120(19):1704-9.
17. Selective demonstration of mural nerves in ganglionic and aganglionic colon by immunohistochemistry for glucose transporter-1: prominent extrinsic nerve pattern staining in Hirschsprung disease. Kakita Y, etal., Arch Pathol Lab Med. 2000 Sep;124(9):1314-9.
18. Localization and quantification of glucose transporters in liver of growth-retarded fetal and neonatal rats. Lane RH, etal., Am J Physiol. 1999 Jan;276(1 Pt 1):E135-42.
19. Enhanced placental GLUT1 and GLUT3 expression in dexamethasone-induced fetal growth retardation. Langdown ML and Sugden MC, Mol Cell Endocrinol 2001 Dec 20;185(1-2):109-17.
20. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Larsen J, etal., Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5.
21. Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Levy B, etal., Mol Genet Metab. 2010 Jun;100(2):129-35. doi: 10.1016/j.ymgme.2010.03.007. Epub 2010 Mar 17.
22. Insulin therapy normalizes GLUT1 glucose transporter mRNA but not immunoreactive transporter protein in streptozocin-diabetic rats. Lutz AJ and Pardridge WM, Metabolism. 1993 Aug;42(8):939-44.
23. Association of glucose transporter 1 polymorphisms with type 2 diabetes in the Tunisian population. Makni K, etal., Diabetes Metab Res Rev. 2008 Oct;24(7):544-8.
24. Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Marin-Valencia I, etal., Neurobiol Dis. 2012 Oct;48(1):92-101. doi: 10.1016/j.nbd.2012.04.011. Epub 2012 Apr 23.
25. MIR-210 modulates mitochondrial respiration in placenta with preeclampsia. Muralimanoharan S, etal., Placenta. 2012 Oct;33(10):816-23. doi: 10.1016/j.placenta.2012.07.002. Epub 2012 Jul 26.
26. GLUT1: a newly discovered immunohistochemical marker for juvenile hemangiomas. North PE, etal., Hum Pathol. 2000 Jan;31(1):11-22.
27. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
28. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
29. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
30. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
31. Immunohistochemical expression of GLUT1 and its correlation with unfavorable histology and TP53 codon 72 polymorphism in Wilms tumors. Rakheja D, etal., Pediatr Dev Pathol. 2012 Jul-Aug;15(4):286-92. doi: 10.2350/12-01-1151-OA.1. Epub 2012 Apr 6.
32. Effects of ceftriaxone on GLT1 isoforms, xCT and associated signaling pathways in P rats exposed to ethanol. Rao PS, etal., Psychopharmacology (Berl). 2015 Jul;232(13):2333-42. doi: 10.1007/s00213-015-3868-3. Epub 2015 Jan 27.
33. Chronic administration of the methylxanthine propentofylline impairs reinstatement to cocaine by a GLT-1-dependent mechanism. Reissner KJ, etal., Neuropsychopharmacology. 2014 Jan;39(2):499-506. doi: 10.1038/npp.2013.223. Epub 2013 Aug 29.
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. T3 strongly regulates GLUT1 and GLUT3 mRNA in cerebral cortex of hypothyroid rat neonates. Santalucía T, etal., Mol Cell Endocrinol. 2006 Jun 7;251(1-2):9-16. Epub 2006 Apr 3.
38. Ceftriaxone, a beta-lactam antibiotic, reduces ethanol consumption in alcohol-preferring rats. Sari Y, etal., Alcohol Alcohol. 2011 May-Jun;46(3):239-46. doi: 10.1093/alcalc/agr023. Epub 2011 Mar 19.
39. Ceftriaxone treatment affects the levels of GLT1 and ENT1 as well as ethanol intake in alcohol-preferring rats. Sari Y, etal., J Mol Neurosci. 2013 Nov;51(3):779-87. doi: 10.1007/s12031-013-0064-y. Epub 2013 Jul 27.
40. The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. Scheepers A, etal., JPEN J Parenter Enteral Nutr. 2004 Sep-Oct;28(5):364-71.
41. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Seidner G, etal., Nat Genet. 1998 Feb;18(2):188-91.
42. Effects of 17beta-estradiol on glucose transporter 1 expression and endothelial cell survival following focal ischemia in the rats. Shi J, etal., Exp Brain Res. 1997 Nov;117(2):200-6.
43. Decreased concentrations of GLUT1 and GLUT3 glucose transporters in the brains of patients with Alzheimer's disease. Simpson IA, etal., Ann Neurol. 1994 May;35(5):546-51.
44. Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile. Suazo J, etal., Reprod Sci. 2013 Oct;20(10):1207-14. doi: 10.1177/1933719113477489. Epub 2013 Feb 20.
45. Phosphodiesterase inhibitor improves renal tubulointerstitial hypoxia of the diabetic rat kidney. Sun HK, etal., Korean J Intern Med. 2012 Jun;27(2):163-70. doi: 10.3904/kjim.2012.27.2.163. Epub 2012 May 31.
46. Effect of transient ischemia on the expression of glucose transporters GLUT-1 and GLUT-4 in rat myocardium. Tardy-Cantalupi I, etal., J Mol Cell Cardiol. 1999 May;31(5):1143-55.
47. Lifestyle intervention up-regulates gene and protein levels of molecules involved in insulin signaling in the endometrium of overweight/obese women with polycystic ovary syndrome. Ujvari D, etal., Hum Reprod. 2014 Jul;29(7):1526-35. Epub 2014 May 19.
48. Nephron-deficient Fvb mice develop rapidly progressive renal failure and heavy albuminuria involving excess glomerular GLUT1 and VEGF. Wang Y, etal., Lab Invest. 2010 Jan;90(1):83-97. doi: 10.1038/labinvest.2009.95. Epub 2009 Nov 16.
49. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Weber YG, etal., Neurology. 2011 Sep 6;77(10):959-64. doi: 10.1212/WNL.0b013e31822e0479. Epub 2011 Aug 10.
50. [The expression and role of glucose transporter-1 in infantile hemangioma]. Yuan SM, etal., Zhonghua Zheng Xing Wai Ke Za Zhi. 2007 Mar;23(2):90-3.
51. Dynamic expression of glucose transporters 1 and 3 in the brain of diabetic rats with cerebral ischemia reperfusion. Zhang WW, etal., Chin Med J (Engl). 2009 Sep 5;122(17):1996-2001.
Additional References at PubMed
PMID:1429721   PMID:1714544   PMID:2394733   PMID:2656669   PMID:2834252   PMID:3028891   PMID:3170580   PMID:3201246   PMID:3839598   PMID:7589840   PMID:7593639   PMID:7798206  
PMID:7829101   PMID:8457197   PMID:8619474   PMID:8662691   PMID:8794391   PMID:8808284   PMID:8839927   PMID:9110174   PMID:9153243   PMID:9228080   PMID:9330634   PMID:9751501  
PMID:10086067   PMID:10198040   PMID:10227690   PMID:10562431   PMID:10655495   PMID:10759149   PMID:10862609   PMID:10980529   PMID:11007796   PMID:11136715   PMID:11168944   PMID:11231353  
PMID:11296192   PMID:11425315   PMID:11477169   PMID:11483777   PMID:11603379   PMID:11681785   PMID:11747430   PMID:11774318   PMID:11836704   PMID:11842083   PMID:11920478   PMID:11953883  
PMID:11991658   PMID:12064911   PMID:12086959   PMID:12112827   PMID:12122099   PMID:12133004   PMID:12145475   PMID:12379105   PMID:12379106   PMID:12393496   PMID:12477932   PMID:12554125  
PMID:12583599   PMID:12673735   PMID:12752470   PMID:12849991   PMID:12942120   PMID:12969152   PMID:14622599   PMID:14674124   PMID:14679154   PMID:14688257   PMID:14702039   PMID:14757434  
PMID:14991538   PMID:15073187   PMID:15086844   PMID:15147968   PMID:15166316   PMID:15331928   PMID:15342556   PMID:15454279   PMID:15489334   PMID:15502921   PMID:15682272   PMID:15709778  
PMID:15767416   PMID:15778389   PMID:15823019   PMID:15847702   PMID:15924676   PMID:15955807   PMID:15967114   PMID:16125330   PMID:16126902   PMID:16136514   PMID:16142350   PMID:16147855  
PMID:16169070   PMID:16172126   PMID:16195374   PMID:16220828   PMID:16273245   PMID:16310037   PMID:16344560   PMID:16407180   PMID:16443776   PMID:16519917   PMID:16681687   PMID:16681688  
PMID:16800634   PMID:16842248   PMID:17020877   PMID:17064664   PMID:17071132   PMID:17080242   PMID:17081065   PMID:17167225   PMID:17192790   PMID:17294670   PMID:17387384   PMID:17404017  
PMID:17442736   PMID:17451637   PMID:17452775   PMID:17504522   PMID:17591274   PMID:17611657   PMID:17635959   PMID:17727838   PMID:17854396   PMID:17991316   PMID:18097583   PMID:18172662  
PMID:18177733   PMID:18191496   PMID:18212354   PMID:18227718   PMID:18245775   PMID:18246802   PMID:18271924   PMID:18290322   PMID:18311082   PMID:18324916   PMID:18343752   PMID:18347014  
PMID:18351386   PMID:18387950   PMID:18401196   PMID:18410529   PMID:18422279   PMID:18451999   PMID:18565734   PMID:18577546   PMID:18614966   PMID:18619525   PMID:18676680   PMID:18695903  
PMID:18726700   PMID:18764953   PMID:18821326   PMID:18948400   PMID:18953257   PMID:18973239   PMID:18981181   PMID:18987250   PMID:18990414   PMID:19016655   PMID:19020718   PMID:19020742  
PMID:19085834   PMID:19142800   PMID:19152396   PMID:19166280   PMID:19170196   PMID:19173807   PMID:19234439   PMID:19286567   PMID:19289587   PMID:19292042   PMID:19303158   PMID:19304421  
PMID:19347605   PMID:19366592   PMID:19386788   PMID:19420105   PMID:19434538   PMID:19449892   PMID:19465749   PMID:19490621   PMID:19533082   PMID:19533890   PMID:19536037   PMID:19554504  
PMID:19569052   PMID:19587357   PMID:19619276   PMID:19625176   PMID:19630075   PMID:19648108   PMID:19648882   PMID:19655166   PMID:19681047   PMID:19692168   PMID:19709351   PMID:19738201  
PMID:19798636   PMID:19819644   PMID:19822956   PMID:19883765   PMID:19948975   PMID:19955252   PMID:20030103   PMID:20063428   PMID:20079187   PMID:20113375   PMID:20221955   PMID:20301334  
PMID:20301603   PMID:20375117   PMID:20395120   PMID:20424473   PMID:20428049   PMID:20458337   PMID:20512538   PMID:20526721   PMID:20527231   PMID:20540786   PMID:20569445   PMID:20574033  
PMID:20607826   PMID:20630673   PMID:20679470   PMID:20687207   PMID:20703861   PMID:20730618   PMID:20803547   PMID:20846124   PMID:20854211   PMID:20937822   PMID:20947823   PMID:20965718  
PMID:21029693   PMID:21033220   PMID:21075472   PMID:21109935   PMID:21194153   PMID:21206329   PMID:21270293   PMID:21273616   PMID:21281236   PMID:21294792   PMID:21295279   PMID:21306648  
PMID:21317389   PMID:21321933   PMID:21332301   PMID:21343253   PMID:21348951   PMID:21384913   PMID:21395180   PMID:21411785   PMID:21438910   PMID:21442770   PMID:21445818   PMID:21475039  
PMID:21521642   PMID:21528061   PMID:21546213   PMID:21555602   PMID:21697701   PMID:21707071   PMID:21786248   PMID:21791420   PMID:21808860   PMID:21838819   PMID:21870331   PMID:21873635  
PMID:21899256   PMID:21920790   PMID:21938742   PMID:21962875   PMID:21986508   PMID:21987722   PMID:22029179   PMID:22069254   PMID:22072148   PMID:22153830   PMID:22199327   PMID:22200795  
PMID:22221271   PMID:22228332   PMID:22234250   PMID:22234467   PMID:22253523   PMID:22263435   PMID:22270867   PMID:22282454   PMID:22282645   PMID:22304920   PMID:22308487   PMID:22363641  
PMID:22376167   PMID:22398711   PMID:22437877   PMID:22470192   PMID:22475893   PMID:22509097   PMID:22516433   PMID:22623428   PMID:22663547   PMID:22673619   PMID:22704013   PMID:22707195  
PMID:22795339   PMID:22800355   PMID:22810586   PMID:22812641   PMID:22813791   PMID:22814174   PMID:22829208   PMID:22835601   PMID:22843905   PMID:22847606   PMID:22888973   PMID:22899793  
PMID:22901702   PMID:22939629   PMID:22961556   PMID:22971162   PMID:23002041   PMID:23030583   PMID:23076555   PMID:23098453   PMID:23106342   PMID:23108021   PMID:23137377   PMID:23187830  
PMID:23219802   PMID:23227892   PMID:23280796   PMID:23306390   PMID:23359198   PMID:23453806   PMID:23480298   PMID:23483445   PMID:23563491   PMID:23615963   PMID:23617290   PMID:23661345  
PMID:23674658   PMID:23720776   PMID:23740044   PMID:23744486   PMID:23861325   PMID:23889809   PMID:23935399   PMID:23975336   PMID:24146103   PMID:24164300   PMID:24242681   PMID:24343741  
PMID:24368212   PMID:24467213   PMID:24483274   PMID:24502553   PMID:24552568   PMID:24699711   PMID:24726496   PMID:24745019   PMID:24817962   PMID:24824030   PMID:24824604   PMID:24847886  
PMID:24932809   PMID:24934577   PMID:24980293   PMID:24981860   PMID:25022942   PMID:25056472   PMID:25120770   PMID:25121413   PMID:25125078   PMID:25132463   PMID:25157747   PMID:25187207  
PMID:25193692   PMID:25227787   PMID:25306890   PMID:25307508   PMID:25321477   PMID:25339765   PMID:25347093   PMID:25367121   PMID:25376377   PMID:25412955   PMID:25433755   PMID:25492937  
PMID:25502934   PMID:25532859   PMID:25564316   PMID:25594612   PMID:25596248   PMID:25701507   PMID:25766729   PMID:25811313   PMID:25837797   PMID:25838393   PMID:25852190   PMID:25863229  
PMID:25910212   PMID:25912843   PMID:25914049   PMID:25919356   PMID:25957687   PMID:25963717   PMID:25982116   PMID:26023239   PMID:26050557   PMID:26062860   PMID:26088884   PMID:26092229  
PMID:26183839   PMID:26193257   PMID:26193382   PMID:26238658   PMID:26293674   PMID:26358256   PMID:26407611   PMID:26465331   PMID:26496610   PMID:26508030   PMID:26513490   PMID:26539827  
PMID:26573871   PMID:26590417   PMID:26598494   PMID:26692443   PMID:26746193   PMID:26873505   PMID:26899926   PMID:26919485   PMID:26934938   PMID:26972000   PMID:27020375   PMID:27039889  
PMID:27067254   PMID:27078104   PMID:27265003   PMID:27342126   PMID:27351131   PMID:27353463   PMID:27357903   PMID:27377895   PMID:27404888   PMID:27440994   PMID:27456707   PMID:27476171  
PMID:27511728   PMID:27644880   PMID:27725288   PMID:27792451   PMID:27829222   PMID:27842912   PMID:27858715   PMID:27863474   PMID:27884659   PMID:27909246   PMID:27918085   PMID:27931517  
PMID:27981520   PMID:27989750   PMID:27998284   PMID:28000878   PMID:28028797   PMID:28036362   PMID:28053105   PMID:28058711   PMID:28086215   PMID:28112518   PMID:28124377   PMID:28178665  
PMID:28180987   PMID:28222430   PMID:28260073   PMID:28298427   PMID:28347233   PMID:28355545   PMID:28378819   PMID:28381136   PMID:28412205   PMID:28419191   PMID:28419980   PMID:28429188  
PMID:28440026   PMID:28443597   PMID:28488541   PMID:28498467   PMID:28498810   PMID:28524154   PMID:28542798   PMID:28545938   PMID:28556183   PMID:28589878   PMID:28617850   PMID:28623979  
PMID:28631569   PMID:28646353   PMID:28712724   PMID:28731193   PMID:28732079   PMID:28759035   PMID:28803777   PMID:28803837   PMID:28852964   PMID:28892135   PMID:28892790   PMID:28945223  
PMID:28969476   PMID:28978999   PMID:28986303   PMID:28993322   PMID:29066623   PMID:29117568   PMID:29117863   PMID:29128957   PMID:29164572   PMID:29180619   PMID:29205188   PMID:29207384  
PMID:29223885   PMID:29374351   PMID:29374742   PMID:29467282   PMID:29481555   PMID:29509190   PMID:29568061   PMID:29624790   PMID:29629851   PMID:29656893   PMID:29684818   PMID:29741207  
PMID:29797802   PMID:29867928   PMID:29913554   PMID:29915035   PMID:29978611   PMID:30021884   PMID:30026052   PMID:30028251   PMID:30062472   PMID:30089592   PMID:30256390   PMID:30280653  
PMID:30306706   PMID:30353771   PMID:30360728   PMID:30361188   PMID:30463901   PMID:30480843   PMID:30508885   PMID:30536316   PMID:30552981   PMID:30591108   PMID:30591458   PMID:30616884  
PMID:30797490   PMID:30824189   PMID:30861255   PMID:30862715   PMID:30868406   PMID:30895386   PMID:30897179   PMID:30948266   PMID:30990881   PMID:31035243   PMID:31067453   PMID:31089713  
PMID:31091453   PMID:31127991   PMID:31160483   PMID:31165505   PMID:31181707   PMID:31182397   PMID:31187488   PMID:31222984   PMID:31269269   PMID:31332168   PMID:31340145   PMID:31407220  
PMID:31491891   PMID:31492194   PMID:31494931   PMID:31527615   PMID:31527827   PMID:31541095   PMID:31586073   PMID:31631598   PMID:31678436   PMID:31686415   PMID:31791063   PMID:31816312  
PMID:31832727   PMID:31871319   PMID:31916460   PMID:31931846   PMID:31932660   PMID:31980649   PMID:31995728   PMID:32025761   PMID:32096653   PMID:32188390   PMID:32196590   PMID:32201432  
PMID:32210228   PMID:32393512   PMID:32394523   PMID:32404031   PMID:32404902   PMID:32433965   PMID:32434192   PMID:32500187   PMID:32533646   PMID:32589140   PMID:32617672   PMID:32628020  
PMID:32687490   PMID:32707731   PMID:32712428   PMID:32807901   PMID:32819845   PMID:32826891   PMID:32873793   PMID:32877691   PMID:32903032   PMID:32945498   PMID:32946972   PMID:32960438  
PMID:32962633   PMID:32967636   PMID:33005030   PMID:33008107   PMID:33144569   PMID:33217448   PMID:33218355   PMID:33271824   PMID:33277953   PMID:33402433   PMID:33420213   PMID:33431108  
PMID:33451334   PMID:33522072   PMID:33543559   PMID:33545068   PMID:33562270   PMID:33618749   PMID:33644029   PMID:33715934   PMID:33725499   PMID:33753374   PMID:33760210   PMID:33766124  
PMID:33773574   PMID:33811729   PMID:33888756   PMID:33913302   PMID:33957083   PMID:33961781   PMID:33967078   PMID:34079125   PMID:34146942   PMID:34227742   PMID:34229540   PMID:34238200  
PMID:34279792   PMID:34349018   PMID:34409730   PMID:34465340   PMID:34478711   PMID:34478732   PMID:34488469   PMID:34539658   PMID:34578187   PMID:34580846   PMID:34620861   PMID:34709727  
PMID:34732716   PMID:34781282   PMID:34790014   PMID:34791627   PMID:34800155   PMID:34801669   PMID:34831313   PMID:34906161   PMID:35013556   PMID:35039635   PMID:35063084   PMID:35074500  
PMID:35137927   PMID:35149838   PMID:35164795   PMID:35213938   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35279228   PMID:35311938   PMID:35384245   PMID:35388452   PMID:35415942  
PMID:35439318   PMID:35483524   PMID:35500464   PMID:35563538   PMID:35615882   PMID:35654150   PMID:35748872   PMID:35766190   PMID:35792526   PMID:35810171   PMID:35819319   PMID:35900536  
PMID:35929906   PMID:35944360   PMID:35955706   PMID:36057597   PMID:36114006   PMID:36168628   PMID:36180527   PMID:36215168   PMID:36273042   PMID:36327817   PMID:36362347   PMID:36465606  
PMID:36490346   PMID:36508576   PMID:36517590   PMID:36526897   PMID:36538041   PMID:36677580   PMID:36708494   PMID:36800779   PMID:36890792   PMID:37171230   PMID:37314216   PMID:37358920  
PMID:37478010   PMID:37499664   PMID:37597521   PMID:37598609   PMID:37632749   PMID:37747441   PMID:37773574   PMID:37827155   PMID:37840133   PMID:37879153   PMID:37898095   PMID:38032044  
PMID:38044399   PMID:38052851   PMID:38113892   PMID:38176954   PMID:38245532   PMID:38270169   PMID:38281711   PMID:38282151   PMID:38514068   PMID:38569033   PMID:38697112   PMID:38744954  
PMID:38777099   PMID:38803061   PMID:38831321   PMID:38914025   PMID:38945485   PMID:39390043   PMID:40437099  


Genomics

Comparative Map Data
SLC2A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38142,925,353 - 42,958,868 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl142,925,353 - 42,958,893 (-)Ensemblhg38GRCh38
GRCh37143,391,024 - 43,424,539 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,164,102 - 43,197,088 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34143,060,611 - 43,093,594NCBI
Celera141,673,133 - 41,706,939 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef141,511,000 - 41,544,561 (-)NCBIHuRef
CHM1_1143,507,796 - 43,541,586 (-)NCBICHM1_1
T2T-CHM13v2.0142,795,821 - 42,829,338 (-)NCBIT2T-CHM13v2.0
Slc2a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394118,966,001 - 118,994,527 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4118,965,908 - 118,995,180 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm384119,108,745 - 119,137,330 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4119,108,711 - 119,137,983 (+)Ensemblmm10GRCm38
MGSCv374118,781,350 - 118,809,935 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364118,606,700 - 118,635,259 (+)NCBIMGSCv36mm8
Celera4117,836,249 - 117,864,839 (+)NCBICelera
Cytogenetic Map4D2.1NCBI
cM Map455.34NCBI
Slc2a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85138,002,522 - 138,030,742 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5138,002,522 - 138,030,742 (+)EnsemblGRCr8
mRatBN7.25132,717,196 - 132,745,416 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5132,717,196 - 132,745,416 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5135,447,151 - 135,475,394 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05137,203,611 - 137,231,856 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05137,224,210 - 137,252,451 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05138,154,677 - 138,182,897 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5138,154,673 - 138,182,897 (+)Ensemblrn6Rnor6.0
Rnor_5.05141,964,114 - 141,992,634 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45139,690,801 - 139,719,021 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5131,243,786 - 131,272,021 (+)NCBICelera
RGSC_v3.15139,696,029 - 139,724,247 (+)NCBI
RH 3.4 Map5865.0RGD
Cytogenetic Map5q36NCBI
Slc2a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555372,408,042 - 2,439,511 (-)Ensembl
ChiLan1.0NW_0049555372,408,042 - 2,438,788 (-)NCBIChiLan1.0ChiLan1.0
SLC2A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21183,853,979 - 183,886,954 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11182,995,645 - 183,028,526 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0142,224,273 - 42,257,184 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1143,600,733 - 43,634,143 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl143,600,733 - 43,634,143 (-)EnsemblpanPan2panpan1.1
SLC2A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.115463,307 - 493,145 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl15463,237 - 493,140 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha15719,928 - 748,675 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.015546,520 - 575,271 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl15546,386 - 575,265 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.115456,107 - 484,827 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.015515,411 - 544,075 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.015532,601 - 561,334 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Slc2a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505858,381,102 - 58,411,854 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647424,206,644 - 24,236,713 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647424,205,878 - 24,236,611 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC2A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6168,535,440 - 168,560,867 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.16168,535,398 - 168,561,170 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26156,057,568 - 156,059,070 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC2A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12089,974,567 - 90,007,977 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2090,002,030 - 90,008,033 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603326,904,125 - 26,937,791 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc2a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248922,117,561 - 2,148,037 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248922,110,310 - 2,148,023 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC2A1
1047 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006516.4(SLC2A1):c.1186_1188delinsTGA (p.Ser396Ter) indel not provided [RCV000520991] Chr1:42927695..42927697 [GRCh38]
Chr1:43393366..43393368 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446138]|Dystonia 9 [RCV003446139]|Encephalopathy due to GLUT1 deficiency [RCV003446137]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446140]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001308097]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446141]|not provided [RCV000523437] Chr1:42927102 [GRCh38]
Chr1:43392773 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) single nucleotide variant Dystonia 9 [RCV000030840]|Encephalopathy due to GLUT1 deficiency [RCV003445090]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000814788]|not provided [RCV000255028] Chr1:42929918 [GRCh38]
Chr1:43395589 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445091]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV000030841]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001063268]|not provided [RCV000189356] Chr1:42929766 [GRCh38]
Chr1:43395437 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|risk factor
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000030921] Chr1:42943239 [GRCh38]
Chr1:43408910 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000030922]|Encephalopathy due to GLUT1 deficiency [RCV001291641]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648074]|SLC2A1-related disorder [RCV004549375]|Seizure [RCV001548750]|not provided [RCV000442654] Chr1:42930865 [GRCh38]
Chr1:43396536 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.668G>C (p.Arg223Pro) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV000032904] Chr1:42929884 [GRCh38]
Chr1:43395555 [GRCh37]
Chr1:1p34.2		 risk factor
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr) duplication Childhood onset GLUT1 deficiency syndrome 2 [RCV000022575] Chr1:42929303..42929304 [GRCh38]
Chr1:43394974..43394975 [GRCh37]
Chr1:1p34.2		 pathogenic
NC_000001.11:g.(?_42925375)_(42959176_?)del deletion Encephalopathy due to GLUT1 deficiency [RCV000017485] Chr1:42925375..42959176 [GRCh38]
Chr1:43391046..43424847 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000017486] Chr1:42927154 [GRCh38]
Chr1:43392825 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1347C>A (p.Tyr449Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000017487] Chr1:42927173 [GRCh38]
Chr1:43392844 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) indel Childhood onset GLUT1 deficiency syndrome 2 [RCV003445072]|Dystonia 9 [RCV003445073]|Encephalopathy due to GLUT1 deficiency [RCV002271986]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445074]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000017488]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445075]|not specified [RCV000189388] Chr1:42929693..42929694 [GRCh38]
Chr1:43395364..43395365 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance|not provided
NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV002271987]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000017489] Chr1:42930765 [GRCh38]
Chr1:43396436 [GRCh37]
Chr1:1p34.2		 pathogenic|not provided
NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000017490] Chr1:42931049 [GRCh38]
Chr1:43396720 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV002288508]|Encephalopathy due to GLUT1 deficiency [RCV000017491]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001387741]|not provided [RCV000081432] Chr1:42930765 [GRCh38]
Chr1:43396436 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) deletion Childhood onset GLUT1 deficiency syndrome 2 [RCV000017492]|Encephalopathy due to GLUT1 deficiency [RCV003445076]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002513077]|not provided [RCV002284173] Chr1:42929606..42929617 [GRCh38]
Chr1:43395277..43395288 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000017493]|Dystonia 9 [RCV002288509]|Encephalopathy due to GLUT1 deficiency [RCV001253635]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000473987]|not provided [RCV000153967] Chr1:42929242 [GRCh38]
Chr1:43394913 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000017494]|Encephalopathy due to GLUT1 deficiency [RCV000147534]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001851890]|not provided [RCV000189361] Chr1:42929637 [GRCh38]
Chr1:43395308 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile) indel Childhood onset GLUT1 deficiency syndrome 2 [RCV000017496] Chr1:42930858..42930859 [GRCh38]
Chr1:43396529..43396530 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000030838]|Chromosome 17q23.1-q23.2 deletion syndrome [RCV004791223]|Dystonia 9 [RCV000030839]|Encephalopathy due to GLUT1 deficiency [RCV000017498]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000546969]|Hereditary cryohydrocytosis with reduced stomatin [RCV000824987]|SLC2A1-related disorder [RCV004737154]|not provided [RCV000081431] Chr1:42930766 [GRCh38]
Chr1:43396437 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000017499]|Developmental disorder [RCV001843456]|Encephalopathy due to GLUT1 deficiency [RCV002243647]|Encephalopathy due to GLUT1 deficiency [RCV003445077]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000705009]|Intellectual disability [RCV000850197]|not provided [RCV000426262] Chr1:42931047 [GRCh38]
Chr1:43396718 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV002271988]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000017500]|SLC2A1-related disorder [RCV004737155]|not provided [RCV001548577] Chr1:42927118 [GRCh38]
Chr1:43392789 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006516.4(SLC2A1):c.1010A>T (p.His337Leu) single nucleotide variant Self-limited epilepsy with centrotemporal spikes [RCV000655968] Chr1:42928996 [GRCh38]
Chr1:43394667 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1295A>G (p.Tyr432Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001348127] Chr1:42927225 [GRCh38]
Chr1:43392896 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446145]|Dystonia 9 [RCV003446146]|Encephalopathy due to GLUT1 deficiency [RCV003446144]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446147]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000545154]|Hereditary cryohydrocytosis with reduced stomatin [RCV002476181]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446148] Chr1:42929763 [GRCh38]
Chr1:43395434 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV002265788]|not provided [RCV000520301] Chr1:42930684 [GRCh38]
Chr1:43396355 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446125]|Dystonia 9 [RCV003446126]|Encephalopathy due to GLUT1 deficiency [RCV003446124]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446127]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001089259]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446128]|Inborn genetic diseases [RCV002413400]|not provided [RCV000516330] Chr1:42929001 [GRCh38]
Chr1:43394672 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.680-3C>A single nucleotide variant not provided [RCV000578960] Chr1:42929783 [GRCh38]
Chr1:43395454 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1035G>A (p.Ala345=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000524822] Chr1:42928971 [GRCh38]
Chr1:43394642 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445507]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV000082868]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000701550]|Hereditary cryohydrocytosis with reduced stomatin [RCV000762930]|not provided [RCV000423069] Chr1:42927148 [GRCh38]
Chr1:43392819 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|risk factor
NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV000082869]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001224070]|not provided [RCV001588909] Chr1:42927651 [GRCh38]
Chr1:43393322 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|risk factor|uncertain significance
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 copy number loss See cases [RCV000050706] Chr1:40693289..44514104 [GRCh38]
Chr1:41158961..44979776 [GRCh37]
Chr1:40931548..44752363 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1		 pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 copy number loss See cases [RCV000053837] Chr1:40462415..44668040 [GRCh38]
Chr1:40928087..45133712 [GRCh37]
Chr1:40700674..44906299 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445481]|Dystonia 9 [RCV000338127]|Encephalopathy due to GLUT1 deficiency [RCV000280704]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445482]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000469072]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445483]|Inborn genetic diseases [RCV002311634]|not provided [RCV004714416]|not specified [RCV000081426] Chr1:42928995 [GRCh38]
Chr1:43394666 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445484]|Dystonia 9 [RCV000295237]|Encephalopathy due to GLUT1 deficiency [RCV000387126]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445485]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000470662]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445486]|Inborn genetic diseases [RCV002311635]|not provided [RCV001537248]|not specified [RCV000081427] Chr1:42928941 [GRCh38]
Chr1:43394612 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445488]|Dystonia 9 [RCV003445489]|Encephalopathy due to GLUT1 deficiency [RCV003445487]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445490]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000457829]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445491]|Inborn genetic diseases [RCV002313781]|not provided [RCV001727564]|not specified [RCV000081428] Chr1:42927224 [GRCh38]
Chr1:43392895 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.19-4G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002514435]|not provided [RCV000081429] Chr1:42943325 [GRCh38]
Chr1:43408996 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001088830]|not provided [RCV000723565]|not specified [RCV000081430] Chr1:42930821 [GRCh38]
Chr1:43396492 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445492]|Dystonia 9 [RCV000381688]|Encephalopathy due to GLUT1 deficiency [RCV000289611]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445493]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001510467]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445494]|Inborn genetic diseases [RCV002311636]|not provided [RCV000418552]|not specified [RCV000081433] Chr1:42930743 [GRCh38]
Chr1:43396414 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445495]|Dystonia 9 [RCV000320845]|Encephalopathy due to GLUT1 deficiency [RCV000377815]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445496]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001084153]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445497]|Inborn genetic diseases [RCV002311637]|not provided [RCV000472423]|not specified [RCV000081434] Chr1:42930725 [GRCh38]
Chr1:43396396 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001808315]|Dystonia 9 [RCV000366638]|Encephalopathy due to GLUT1 deficiency [RCV000576517]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001514142]|Hereditary cryohydrocytosis with reduced stomatin [RCV001808316]|Inborn genetic diseases [RCV002311638]|not provided [RCV001610374]|not specified [RCV000081435] Chr1:42943295 [GRCh38]
Chr1:43408966 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445498]|Dystonia 9 [RCV000263600]|Encephalopathy due to GLUT1 deficiency [RCV000576717]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445499]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001510466]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445500]|Inborn genetic diseases [RCV002311639]|not provided [RCV001540049]|not specified [RCV000081436] Chr1:42929964 [GRCh38]
Chr1:43395635 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000690814]|not provided [RCV000723629] Chr1:42929900 [GRCh38]
Chr1:43395571 [GRCh37]
Chr1:1p34.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.679+7G>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445501]|Dystonia 9 [RCV000317495]|Encephalopathy due to GLUT1 deficiency [RCV000259998]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445502]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001081121]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445503]|not provided [RCV000713338]|not specified [RCV000081438] Chr1:42929866 [GRCh38]
Chr1:43395537 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) single nucleotide variant Dystonia 9 [RCV000310167]|Encephalopathy due to GLUT1 deficiency [RCV000147533]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001084489]|Inborn genetic diseases [RCV002408608]|not provided [RCV000723592]|not specified [RCV000186663] Chr1:42929683 [GRCh38]
Chr1:43395354 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445504]|Dystonia 9 [RCV000400736]|Encephalopathy due to GLUT1 deficiency [RCV000341806]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445505]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000459595]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445506]|Inborn genetic diseases [RCV002311640]|not provided [RCV004713246]|not specified [RCV000081440] Chr1:42929216 [GRCh38]
Chr1:43394887 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.980_981del (p.Val327fs) microsatellite not provided [RCV000180298] Chr1:42929025..42929026 [GRCh38]
Chr1:43394696..43394697 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser) single nucleotide variant Dystonia 9 [RCV001333545]|not provided [RCV005235567] Chr1:42927736 [GRCh38]
Chr1:43393407 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445605]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002516600]|not provided [RCV000173823] Chr1:42927224 [GRCh38]
Chr1:43392895 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.18+12G>T single nucleotide variant Dystonia 9 [RCV000381545]|Encephalopathy due to GLUT1 deficiency [RCV000268417]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002055808]|not specified [RCV000128099] Chr1:42958622 [GRCh38]
Chr1:43424293 [GRCh37]
Chr1:1p34.2		 benign|likely benign|uncertain significance
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445517]|Dystonia 9 [RCV000327064]|Encephalopathy due to GLUT1 deficiency [RCV000271966]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445518]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001080125]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445519]|Inborn genetic diseases [RCV002312601]|not provided [RCV000463852]|not specified [RCV000147525] Chr1:42943313 [GRCh38]
Chr1:43408984 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006516.4(SLC2A1):c.276-9C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445521]|Dystonia 9 [RCV003445522]|Encephalopathy due to GLUT1 deficiency [RCV003445520]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445523]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648101]|Hereditary cryohydrocytosis with reduced stomatin [RCV002492488]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445524]|not specified [RCV000128101] Chr1:42930875 [GRCh38]
Chr1:43396546 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.276-7T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001088625]|SLC2A1-related disorder [RCV004551225]|not provided [RCV000723792]|not specified [RCV000186661] Chr1:42930873 [GRCh38]
Chr1:43396544 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445526]|Dystonia 9 [RCV003445527]|Encephalopathy due to GLUT1 deficiency [RCV003445525]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445528]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000456223]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445529]|Inborn genetic diseases [RCV002312939]|not provided [RCV001725996]|not specified [RCV000178278] Chr1:42930635 [GRCh38]
Chr1:43396306 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000147526]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648093]|Inborn genetic diseases [RCV002345440]|not specified [RCV000128106] Chr1:42930009 [GRCh38]
Chr1:43395680 [GRCh37]
Chr1:1p34.2		 benign|likely benign|uncertain significance
NM_006516.4(SLC2A1):c.679+4C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001087312]|Inborn genetic diseases [RCV002312940]|SLC2A1-related disorder [RCV004551226]|not provided [RCV000723793]|not specified [RCV000186662] Chr1:42929869 [GRCh38]
Chr1:43395540 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_006516.4(SLC2A1):c.679+7G>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445530]|Dystonia 9 [RCV000370582]|Encephalopathy due to GLUT1 deficiency [RCV000313526]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445531]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000535220]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445532]|not specified [RCV000147528] Chr1:42929866 [GRCh38]
Chr1:43395537 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.680-12C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445534]|Dystonia 9 [RCV003445535]|Encephalopathy due to GLUT1 deficiency [RCV003445533]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445536]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001522145]|Hereditary cryohydrocytosis with reduced stomatin [RCV002477339]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445537]|not specified [RCV000128109] Chr1:42929792 [GRCh38]
Chr1:43395463 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001085167]|Inborn genetic diseases [RCV002444592]|not provided [RCV000726585]|not specified [RCV000128110] Chr1:42929288 [GRCh38]
Chr1:43394959 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.973-17A>G single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445539]|Dystonia 9 [RCV003445540]|Encephalopathy due to GLUT1 deficiency [RCV003445538]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445541]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001520530]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445542]|not provided [RCV004713354]|not specified [RCV000128112] Chr1:42929050 [GRCh38]
Chr1:43394721 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445544]|Dystonia 9 [RCV003445545]|Encephalopathy due to GLUT1 deficiency [RCV003445543]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445546]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648104]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445547]|Inborn genetic diseases [RCV002316414]|not specified [RCV000128114] Chr1:42928983 [GRCh38]
Chr1:43394654 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445548]|Dystonia 9 [RCV000272786]|Encephalopathy due to GLUT1 deficiency [RCV000330222]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445549]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000540255]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445550]|Inborn genetic diseases [RCV002312602]|not specified [RCV000128115] Chr1:42927713 [GRCh38]
Chr1:43393384 [GRCh37]
Chr1:1p34.2		 benign|likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445551]|Dystonia 9 [RCV000361745]|Encephalopathy due to GLUT1 deficiency [RCV000269416]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445552]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000554998]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445553]|Inborn genetic diseases [RCV002312603]|not provided [RCV002262747]|not specified [RCV000128117] Chr1:42927148 [GRCh38]
Chr1:43392819 [GRCh37]
Chr1:1p34.2		 benign|likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445554]|Dystonia 9 [RCV000398338]|Encephalopathy due to GLUT1 deficiency [RCV000304832]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445555]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001085385]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445556]|Inborn genetic diseases [RCV002390295]|not provided [RCV000761652]|not specified [RCV000186664] Chr1:42927083 [GRCh38]
Chr1:43392754 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.907dup (p.Val303fs) duplication not provided [RCV000179917] Chr1:42929274..42929275 [GRCh38]
Chr1:43394945..43394946 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV002288787]|Dystonia 9 [RCV003335179]|Encephalopathy due to GLUT1 deficiency [RCV002271990]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001390266]|GLUT1 deficiency syndrome [RCV000500584]|Hereditary cryohydrocytosis with reduced stomatin [RCV000763336]|Inborn genetic diseases [RCV002312729]|not provided [RCV000180300] Chr1:42929009 [GRCh38]
Chr1:43394680 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|not provided
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001467472]|not provided [RCV000488227] Chr1:42927074 [GRCh38]
Chr1:43392745 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.-2C>T single nucleotide variant Inborn genetic diseases [RCV002312975]|not provided [RCV001731395]|not specified [RCV000147516] Chr1:42958653 [GRCh38]
Chr1:43424324 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1007_1009del (p.Leu336del) deletion Encephalopathy due to GLUT1 deficiency [RCV000147517] Chr1:42928997..42928999 [GRCh38]
Chr1:43394668..43394670 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) single nucleotide variant Dystonia 9 [RCV005243132]|Encephalopathy due to GLUT1 deficiency [RCV000147518]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV005089715] Chr1:42943240 [GRCh38]
Chr1:43408911 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer) deletion Encephalopathy due to GLUT1 deficiency [RCV000147519] Chr1:42927794 [GRCh38]
Chr1:43393465 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1268A>G (p.Gln423Arg) single nucleotide variant not specified [RCV000147521] Chr1:42927615 [GRCh38]
Chr1:43393286 [GRCh37]
Chr1:1p34.2		 likely benign
NC_000001.11:g.42943313_42943322del deletion Encephalopathy due to GLUT1 deficiency [RCV000147524] Chr1:42943312..42943321 [GRCh38]
Chr1:43408983..43408992 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.679+4C>A single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000147527]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648079]|SLC2A1-related disorder [RCV004551281]|not specified [RCV000189343] Chr1:42929869 [GRCh38]
Chr1:43395540 [GRCh37]
Chr1:1p34.2		 benign|likely benign|uncertain significance
NM_006516.4(SLC2A1):c.680-10G>T single nucleotide variant Dystonia 9 [RCV000274920]|Encephalopathy due to GLUT1 deficiency [RCV000147529]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001449164]|not specified [RCV000614539] Chr1:42929790 [GRCh38]
Chr1:43395461 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001067060]|Inborn genetic diseases [RCV002390305]|not provided [RCV001507438]|not specified [RCV000147530] Chr1:42929714 [GRCh38]
Chr1:43395385 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000147531]|not provided [RCV000189359] Chr1:42929712 [GRCh38]
Chr1:43395383 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) single nucleotide variant Dystonia 9 [RCV001096519]|Encephalopathy due to GLUT1 deficiency [RCV001096518]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000805096]|Inborn genetic diseases [RCV002390306]|SLC2A1-related disorder [RCV004737227]|not provided [RCV001704070]|not specified [RCV000147532] Chr1:42929696 [GRCh38]
Chr1:43395367 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000147535]|not provided [RCV003137647] Chr1:42929613 [GRCh38]
Chr1:43395284 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) microsatellite Encephalopathy due to GLUT1 deficiency [RCV003445691]|Hereditary cryohydrocytosis with reduced stomatin [RCV000202573]|Inborn genetic diseases [RCV000622580]|not provided [RCV001280695] Chr1:42927212..42927214 [GRCh38]
Chr1:43392883..43392885 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp) single nucleotide variant Hereditary cryohydrocytosis with reduced stomatin [RCV000202596]|not provided [RCV003221858] Chr1:42929603 [GRCh38]
Chr1:43395274 [GRCh37]
Chr1:1p34.2		 pathogenic
GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1 copy number loss See cases [RCV000141339] Chr1:42653385..43093829 [GRCh38]
Chr1:43119056..43559500 [GRCh37]
Chr1:42891643..43332087 [NCBI36]
Chr1:1p34.2		 likely pathogenic
GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1 copy number loss See cases [RCV000142267] Chr1:40834404..43123071 [GRCh38]
Chr1:41300076..43588742 [GRCh37]
Chr1:41072663..43361329 [NCBI36]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445579]|Dystonia 9 [RCV003445580]|Encephalopathy due to GLUT1 deficiency [RCV003445578]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445581]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001396562]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445582]|Inborn genetic diseases [RCV002362806]|not provided [RCV001704118]|not specified [RCV000153968] Chr1:42929752 [GRCh38]
Chr1:43395423 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.114+7A>G single nucleotide variant not provided [RCV000153969] Chr1:42943219 [GRCh38]
Chr1:43408890 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.80G>A (p.Gly27Asp) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV004794372]|not provided [RCV000175828] Chr1:42943260 [GRCh38]
Chr1:43408931 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.679+5G>T single nucleotide variant not provided [RCV000254738] Chr1:42929868 [GRCh38]
Chr1:43395539 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) single nucleotide variant Dystonia 9 [RCV000316012]|Encephalopathy due to GLUT1 deficiency [RCV000372948]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648088]|Inborn genetic diseases [RCV002390506]|not provided [RCV000725496]|not specified [RCV000192772] Chr1:42928972 [GRCh38]
Chr1:43394643 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005089988]|not provided [RCV003488448]|not specified [RCV000192838] Chr1:42931092 [GRCh38]
Chr1:43396763 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648092]|Hereditary cryohydrocytosis with reduced stomatin [RCV000768318]|Inborn genetic diseases [RCV002390507]|not provided [RCV001721262]|not specified [RCV000193808] Chr1:42927125 [GRCh38]
Chr1:43392796 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV004767121]|Encephalopathy due to GLUT1 deficiency [RCV005243146]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001852209]|not provided [RCV000178275] Chr1:42930684 [GRCh38]
Chr1:43396355 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001084789]|Inborn genetic diseases [RCV002314641]|not provided [RCV000724628]|not specified [RCV000178279] Chr1:42930644 [GRCh38]
Chr1:43396315 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.567G>C (p.Leu189=) single nucleotide variant not provided [RCV000178920] Chr1:42929985 [GRCh38]
Chr1:43395656 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445609]|Dystonia 9 [RCV003445610]|Encephalopathy due to GLUT1 deficiency [RCV003445608]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445611]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000467294]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445612]|Inborn genetic diseases [RCV002317055]|not provided [RCV000179465] Chr1:42929670 [GRCh38]
Chr1:43395341 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.972+7del deletion Dystonic disorder [RCV000284359]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001087619]|GLUT1 deficiency syndrome [RCV000396792]|Inborn genetic diseases [RCV005278533]|not provided [RCV000724290]|not specified [RCV000189344] Chr1:42929203 [GRCh38]
Chr1:43394874 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.938C>A (p.Ser313Tyr) single nucleotide variant not provided [RCV000179922] Chr1:42929244 [GRCh38]
Chr1:43394915 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) single nucleotide variant Dystonia 9 [RCV001101942]|Encephalopathy due to GLUT1 deficiency [RCV001101941]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001079646]|not provided [RCV000179923] Chr1:42929276 [GRCh38]
Chr1:43394947 [GRCh37]
Chr1:1p34.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV001781538]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001079673]|Hereditary cryohydrocytosis with reduced stomatin [RCV000515255]|Hereditary cryohydrocytosis with reduced stomatin [RCV000768319]|Inborn genetic diseases [RCV002317061]|not provided [RCV000724044]|not specified [RCV000189370] Chr1:42928990 [GRCh38]
Chr1:43394661 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445616]|Dystonia 9 [RCV003445617]|Encephalopathy due to GLUT1 deficiency [RCV003445615]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV000660366]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV005089899]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445618]|not provided [RCV000180302] Chr1:42929000 [GRCh38]
Chr1:43394671 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.164G>C (p.Ser55Thr) single nucleotide variant not provided [RCV000177260] Chr1:42931157 [GRCh38]
Chr1:43396828 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001333547]|Encephalopathy due to GLUT1 deficiency [RCV000184042]|Intellectual disability [RCV000224228] Chr1:42929736 [GRCh38]
Chr1:43395407 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.*587A>T single nucleotide variant Dystonia 9 [RCV000356997]|Encephalopathy due to GLUT1 deficiency [RCV000264585] Chr1:42926454 [GRCh38]
Chr1:43392125 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001425993]|not specified [RCV000194739] Chr1:42928983 [GRCh38]
Chr1:43394654 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.-50G>T single nucleotide variant not specified [RCV000189345] Chr1:42958701 [GRCh38]
Chr1:43424372 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445634]|Dystonia 9 [RCV003445635]|Encephalopathy due to GLUT1 deficiency [RCV003445633]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445636]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002517016]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445637]|not provided [RCV000189347]|not specified [RCV003987435] Chr1:42943237 [GRCh38]
Chr1:43408908 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445642]|Dystonia 9 [RCV003445643]|Encephalopathy due to GLUT1 deficiency [RCV003445641]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445644]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001038415]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445645]|not provided [RCV000189350] Chr1:42931163 [GRCh38]
Chr1:43396834 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.631C>T (p.Pro211Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001365001]|not provided [RCV000189354] Chr1:42929921 [GRCh38]
Chr1:43395592 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV002288795]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000546488]|Hereditary cryohydrocytosis with reduced stomatin [RCV000763337]|not provided [RCV000189355] Chr1:42929885 [GRCh38]
Chr1:43395556 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.707A>T (p.Asp236Val) single nucleotide variant not provided [RCV000189357] Chr1:42929753 [GRCh38]
Chr1:43395424 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.745C>T (p.Arg249Trp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001950657] Chr1:42929715 [GRCh38]
Chr1:43395386 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.848A>G (p.Gln283Arg) single nucleotide variant not provided [RCV000189362] Chr1:42929612 [GRCh38]
Chr1:43395283 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr) single nucleotide variant See cases [RCV002252036]|not provided [RCV000189363] Chr1:42929595 [GRCh38]
Chr1:43395266 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001781556]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000458906]|not provided [RCV000189366] Chr1:42929211 [GRCh38]
Chr1:43394882 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) single nucleotide variant Dystonia 9 [RCV002247611]|Encephalopathy due to GLUT1 deficiency [RCV003445651]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517145]|SLC2A1-related disorder [RCV004725037]|not provided [RCV000189367] Chr1:42929210 [GRCh38]
Chr1:43394881 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.982G>T (p.Val328Leu) single nucleotide variant not provided [RCV000189368] Chr1:42929024 [GRCh38]
Chr1:43394695 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1015A>G (p.Ile339Val) single nucleotide variant not provided [RCV000189369] Chr1:42928991 [GRCh38]
Chr1:43394662 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1049T>C (p.Leu350Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631096]|not provided [RCV000189371] Chr1:42928957 [GRCh38]
Chr1:43394628 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1105A>G (p.Ile369Val) single nucleotide variant not provided [RCV000189372] Chr1:42927778 [GRCh38]
Chr1:43393449 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445653]|Dystonia 9 [RCV003445654]|Encephalopathy due to GLUT1 deficiency [RCV003445652]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445655]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003114343]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445656]|not provided [RCV000189374] Chr1:42927774 [GRCh38]
Chr1:43393445 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445657]|Dystonia 9 [RCV003445658]|Encephalopathy due to GLUT1 deficiency [RCV003147392]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445659]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445660]|not provided [RCV000189375] Chr1:42927757 [GRCh38]
Chr1:43393428 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.2(SLC2A1):c.1156A>G (p.Ile386Val) single nucleotide variant not specified [RCV000189376] Chr1:42927727 [GRCh38]
Chr1:43393398 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1157T>G (p.Ile386Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648080] Chr1:42927726 [GRCh38]
Chr1:43393397 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) single nucleotide variant Dystonia 9 [RCV003137767]|Encephalopathy due to GLUT1 deficiency [RCV003445661]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000463311]|Inborn genetic diseases [RCV001267280]|not provided [RCV000189378] Chr1:42927685 [GRCh38]
Chr1:43393356 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445662]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002517900]|not provided [RCV000189379] Chr1:42927611 [GRCh38]
Chr1:43393282 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.115-3del deletion not provided [RCV000189384] Chr1:42931209 [GRCh38]
Chr1:43396880 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.207_216delinsC (p.Ala70_Phe72del) indel not provided [RCV000189385] Chr1:42931105..42931114 [GRCh38]
Chr1:43396776..43396785 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.539del (p.Met180fs) deletion not provided [RCV000189386] Chr1:42930013 [GRCh38]
Chr1:43395684 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.828_841del (p.Val277fs) deletion not provided [RCV000189387] Chr1:42929619..42929632 [GRCh38]
Chr1:43395290..43395303 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.972+1_972+3del deletion not provided [RCV000189389] Chr1:42929207..42929209 [GRCh38]
Chr1:43394878..43394880 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.979del (p.Val327fs) deletion not provided [RCV000189390] Chr1:42929027 [GRCh38]
Chr1:43394698 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1006del (p.Leu336fs) deletion not provided [RCV000189391] Chr1:42929000 [GRCh38]
Chr1:43394671 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.19-2A>G single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445678]|Hereditary cryohydrocytosis with reduced stomatin [RCV000850603]|not provided [RCV000189392] Chr1:42943323 [GRCh38]
Chr1:43408994 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.2(SLC2A1):c.79G>A (p.Gly27Ser) single nucleotide variant not provided [RCV000189393] Chr1:42943261 [GRCh38]
Chr1:43408932 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445680]|Dystonia 9 [RCV003445681]|Encephalopathy due to GLUT1 deficiency [RCV003445679]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445682]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001208558]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445683]|not provided [RCV000189399] Chr1:42927234 [GRCh38]
Chr1:43392905 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.-26G>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445619]|Dystonia 9 [RCV000377933]|Encephalopathy due to GLUT1 deficiency [RCV000323326]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445620]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445621]|not specified [RCV000189338] Chr1:42958677 [GRCh38]
Chr1:43424348 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.19-12G>A single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445623]|Dystonia 9 [RCV003445624]|Encephalopathy due to GLUT1 deficiency [RCV003445622]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445625]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002054231]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445626]|not specified [RCV000189339] Chr1:42943333 [GRCh38]
Chr1:43409004 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003343680]|Dystonia 9 [RCV003343681]|Encephalopathy due to GLUT1 deficiency [RCV003343679]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003343682]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001087764]|Hereditary cryohydrocytosis with reduced stomatin [RCV003343683]|not provided [RCV000727515]|not specified [RCV000189340] Chr1:42931063 [GRCh38]
Chr1:43396734 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) single nucleotide variant Dystonia 9 [RCV000400449]|Encephalopathy due to GLUT1 deficiency [RCV000722005]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001364077]|not provided [RCV000732647]|not specified [RCV002298514] Chr1:42931047 [GRCh38]
Chr1:43396718 [GRCh37]
Chr1:1p34.2		 benign|likely benign|uncertain significance
NM_006516.4(SLC2A1):c.276-19C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445628]|Dystonia 9 [RCV003445629]|Encephalopathy due to GLUT1 deficiency [RCV003445627]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445630]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002056974]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445631]|not specified [RCV000189342] Chr1:42930885 [GRCh38]
Chr1:43396556 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.18+1G>A single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445632]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002514063]|not provided [RCV000189346] Chr1:42958633 [GRCh38]
Chr1:43424304 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) single nucleotide variant Dystonia 9 [RCV001098347]|Encephalopathy due to GLUT1 deficiency [RCV001096623]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000819050]|not provided [RCV000189348]|not specified [RCV004700575] Chr1:42931196 [GRCh38]
Chr1:43396867 [GRCh37]
Chr1:1p34.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445638]|Dystonia 9 [RCV001096622]|Encephalopathy due to GLUT1 deficiency [RCV001096621]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445639]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000865433]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445640]|not provided [RCV001711485] Chr1:42931183 [GRCh38]
Chr1:43396854 [GRCh37]
Chr1:1p34.2		 benign|uncertain significance
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) single nucleotide variant Dystonia 9 [RCV000394308]|Encephalopathy due to GLUT1 deficiency [RCV000346798]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000468529]|Hereditary cryohydrocytosis with reduced stomatin [RCV003326127]|SLC2A1-related disorder [RCV004553027]|not provided [RCV001721221] Chr1:42930829 [GRCh38]
Chr1:43396500 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.388G>C (p.Gly130Arg) single nucleotide variant not provided [RCV000189352] Chr1:42930754 [GRCh38]
Chr1:43396425 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.2(SLC2A1):c.436G>C (p.Glu146Gln) single nucleotide variant not provided [RCV000189353] Chr1:42930706 [GRCh38]
Chr1:43396377 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001004692]|Encephalopathy due to GLUT1 deficiency [RCV000679880]|Epilepsy [RCV000415466]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000461498]|Hereditary cryohydrocytosis with reduced stomatin [RCV001249688]|Inborn genetic diseases [RCV000622452]|not provided [RCV000189360] Chr1:42929018 [GRCh38]
Chr1:43394689 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys) single nucleotide variant Dystonia 9 [RCV000363287]|Encephalopathy due to GLUT1 deficiency [RCV000306227]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000463634]|Inborn genetic diseases [RCV002317646]|not provided [RCV001721222] Chr1:42929287 [GRCh38]
Chr1:43394958 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445647]|Dystonia 9 [RCV003445648]|Encephalopathy due to GLUT1 deficiency [RCV003445646]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445649]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001064748]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445650]|Inborn genetic diseases [RCV002444767]|not provided [RCV000189365]|not specified [RCV003401033] Chr1:42929237 [GRCh38]
Chr1:43394908 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001049146]|SLC2A1-related disorder [RCV004553028]|See cases [RCV002252037]|not provided [RCV001705042] Chr1:42927775 [GRCh38]
Chr1:43393446 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445664]|Dystonia 9 [RCV003445665]|Encephalopathy due to GLUT1 deficiency [RCV003445663]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445666]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001049565]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445667]|not provided [RCV000766834]|not specified [RCV000189380] Chr1:42927124 [GRCh38]
Chr1:43392795 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445669]|Dystonia 9 [RCV003445670]|Encephalopathy due to GLUT1 deficiency [RCV003445668]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445671]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000687947]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445672]|not provided [RCV000189381] Chr1:42927112 [GRCh38]
Chr1:43392783 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000692340]|not provided [RCV000766835]|not specified [RCV000189382] Chr1:42927112 [GRCh38]
Chr1:43392783 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445674]|Dystonia 9 [RCV003445675]|Encephalopathy due to GLUT1 deficiency [RCV003445673]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445676]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001054891]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445677]|not provided [RCV000189383] Chr1:42927112 [GRCh38]
Chr1:43392783 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001253255]|Intellectual disability [RCV001255335]|not provided [RCV000189394] Chr1:42930684 [GRCh38]
Chr1:43396355 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001450120]|Hereditary cryohydrocytosis with reduced stomatin [RCV005016533]|not provided [RCV001532531] Chr1:42929655 [GRCh38]
Chr1:43395326 [GRCh37]
Chr1:1p34.2		 likely pathogenic|likely benign|uncertain significance
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000193872]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001380032]|GLUT1 deficiency syndrome [RCV002272166]|not provided [RCV000189397] Chr1:42929298 [GRCh38]
Chr1:43394969 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1216G>A (p.Val406Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648102] Chr1:42927667 [GRCh38]
Chr1:43393338 [GRCh37]
Chr1:1p34.2		 likely pathogenic|likely benign
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445685]|Dystonia 9 [RCV003445686]|Encephalopathy due to GLUT1 deficiency [RCV003445684]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445687]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648077]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445688]|not provided [RCV000189400] Chr1:42927075 [GRCh38]
Chr1:43392746 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=) single nucleotide variant Dystonia 9 [RCV000343145]|Encephalopathy due to GLUT1 deficiency [RCV000285912]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001456221] Chr1:42930731 [GRCh38]
Chr1:43396402 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.2(SLC2A1):c.-388G>T single nucleotide variant Dystonic disorder [RCV000263241]|GLUT1 deficiency syndrome [RCV000357986] Chr1:42959039 [GRCh38]
Chr1:43424710 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV005256588]|Encephalopathy due to GLUT1 deficiency [RCV000678305]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000694332]|Inborn genetic diseases [RCV002347986]|not provided [RCV000364606] Chr1:42927684 [GRCh38]
Chr1:43393355 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1158_1162del (p.Ile386fs) microsatellite not provided [RCV000255483] Chr1:42927721..42927725 [GRCh38]
Chr1:43393392..43393396 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.732del (p.Met244fs) deletion Encephalopathy due to GLUT1 deficiency [RCV000578223] Chr1:42929728 [GRCh38]
Chr1:43395399 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000209836] Chr1:42929244 [GRCh38]
Chr1:43394915 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.18+7C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001494984] Chr1:42958627 [GRCh38]
Chr1:43424298 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-1G>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000209843] Chr1:42930036 [GRCh38]
Chr1:43395707 [GRCh37]
Chr1:1p34.2		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) deletion Encephalopathy due to GLUT1 deficiency [RCV000224978] Chr1:42929977..42929978 [GRCh38]
Chr1:43395648..43395649 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.797C>G (p.Pro266Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000226026] Chr1:42929663 [GRCh38]
Chr1:43395334 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.145G>T (p.Val49Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000228194] Chr1:42931176 [GRCh38]
Chr1:43396847 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.734A>G (p.Lys245Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001368020] Chr1:42929726 [GRCh38]
Chr1:43395397 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV000662334]|Dystonia 9 [RCV000350448]|Encephalopathy due to GLUT1 deficiency [RCV000311944]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445892]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000864633]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445893]|Inborn genetic diseases [RCV002321974]|SLC2A1-related disorder [RCV004549656]|not provided [RCV001711886]|not specified [RCV000480070] Chr1:42930830 [GRCh38]
Chr1:43396501 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006516.4(SLC2A1):c.398_399delinsTT (p.Cys133Phe) indel not provided [RCV000519895] Chr1:42930743..42930744 [GRCh38]
Chr1:43396414..43396415 [GRCh37]
Chr1:1p34.2		 likely pathogenic
GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1 copy number loss See cases [RCV000446029] Chr1:42914303..45001279 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
NM_006516.4(SLC2A1):c.1278+9C>G single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445889]|Dystonia 9 [RCV000326902]|Encephalopathy due to GLUT1 deficiency [RCV000365217]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445890]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001411273]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445891]|not specified [RCV000431404] Chr1:42927596 [GRCh38]
Chr1:43393267 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.2(SLC2A1):c.-424C>G single nucleotide variant Dystonic disorder [RCV000333448]|GLUT1 deficiency syndrome [RCV000278436]|not provided [RCV001653458] Chr1:42959075 [GRCh38]
Chr1:43424746 [GRCh37]
Chr1:1p34.2		 benign|uncertain significance
NM_006516.4(SLC2A1):c.-190G>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445894]|Dystonia 9 [RCV000283528]|Encephalopathy due to GLUT1 deficiency [RCV000338598]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445895]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445896]|not provided [RCV000832506] Chr1:42958841 [GRCh38]
Chr1:43424512 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.*1337A>C single nucleotide variant Dystonia 9 [RCV000340946]|Encephalopathy due to GLUT1 deficiency [RCV000283656] Chr1:42925704 [GRCh38]
Chr1:43391375 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.*560T>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445883]|Dystonia 9 [RCV000325854]|Encephalopathy due to GLUT1 deficiency [RCV000268465]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445884]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445885]|not provided [RCV003409450] Chr1:42926481 [GRCh38]
Chr1:43392152 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1279C>T (p.Gln427Ter) single nucleotide variant not provided [RCV000522544] Chr1:42927241 [GRCh38]
Chr1:43392912 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001253348]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001390267]|Seizure [RCV003380534]|not provided [RCV000255929] Chr1:42929917 [GRCh38]
Chr1:43395588 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446135]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001853647]|Inborn genetic diseases [RCV000624470]|not provided [RCV000521391] Chr1:42929652 [GRCh38]
Chr1:43395323 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.*1587A>G single nucleotide variant Dystonia 9 [RCV000276916]|Encephalopathy due to GLUT1 deficiency [RCV000331951]|not provided [RCV004713678] Chr1:42925454 [GRCh38]
Chr1:43391125 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.*1149C>A single nucleotide variant Dystonia 9 [RCV000277274]|Encephalopathy due to GLUT1 deficiency [RCV000369567] Chr1:42925892 [GRCh38]
Chr1:43391563 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.387C>T (p.Ile129=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001468383]|not provided [RCV004721434] Chr1:42930755 [GRCh38]
Chr1:43396426 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.*626G>A single nucleotide variant Dystonia 9 [RCV000315213]|Encephalopathy due to GLUT1 deficiency [RCV000353738]|not provided [RCV004714778] Chr1:42926415 [GRCh38]
Chr1:43392086 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.*22G>A single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445886]|Dystonia 9 [RCV000301352]|Encephalopathy due to GLUT1 deficiency [RCV000358447]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445887]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445888]|not provided [RCV001566798] Chr1:42927019 [GRCh38]
Chr1:43392690 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.-197A>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445897]|Dystonia 9 [RCV000398107]|Encephalopathy due to GLUT1 deficiency [RCV000335064]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445898]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445899]|not provided [RCV000829780] Chr1:42958848 [GRCh38]
Chr1:43424519 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.*60C>T single nucleotide variant Dystonia 9 [RCV000402139]|Encephalopathy due to GLUT1 deficiency [RCV000335525] Chr1:42926981 [GRCh38]
Chr1:43392652 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.2(SLC2A1):c.-390delA deletion Childhood onset GLUT1 deficiency syndrome 2 [RCV003445901]|Dystonia 9 [RCV003445902]|Dystonic disorder [RCV000318285]|Encephalopathy due to GLUT1 deficiency [RCV003445900]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445903]|GLUT1 deficiency syndrome [RCV000372998]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445904]|not provided [RCV000829779] Chr1:42959041 [GRCh38]
Chr1:43424712 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.*1337A>G single nucleotide variant Dystonia 9 [RCV000337942]|Encephalopathy due to GLUT1 deficiency [RCV000373944] Chr1:42925704 [GRCh38]
Chr1:43391375 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*571C>T single nucleotide variant Dystonia 9 [RCV000360508]|Encephalopathy due to GLUT1 deficiency [RCV000322089] Chr1:42926470 [GRCh38]
Chr1:43392141 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.*971G>A single nucleotide variant Dystonia 9 [RCV000341305]|Encephalopathy due to GLUT1 deficiency [RCV000379551] Chr1:42926070 [GRCh38]
Chr1:43391741 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.2(SLC2A1):c.-368A>C single nucleotide variant Dystonic disorder [RCV000306755]|GLUT1 deficiency syndrome [RCV000361507] Chr1:42959019 [GRCh38]
Chr1:43424690 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*346G>A single nucleotide variant Dystonia 9 [RCV000351680]|Encephalopathy due to GLUT1 deficiency [RCV000294471]|not provided [RCV004713680] Chr1:42926695 [GRCh38]
Chr1:43392366 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.*1213G>T single nucleotide variant Dystonia 9 [RCV000366177]|Encephalopathy due to GLUT1 deficiency [RCV000309197]|not provided [RCV004714777] Chr1:42925828 [GRCh38]
Chr1:43391499 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.2(SLC2A1):c.-242C>T single nucleotide variant Dystonic disorder [RCV000310108]|GLUT1 deficiency syndrome [RCV000390065] Chr1:42958893 [GRCh38]
Chr1:43424564 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.*1588G>A single nucleotide variant Dystonia 9 [RCV000387484]|Encephalopathy due to GLUT1 deficiency [RCV000328301] Chr1:42925453 [GRCh38]
Chr1:43391124 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.2(SLC2A1):c.-490G>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445906]|Dystonia 9 [RCV003445907]|Dystonic disorder [RCV000347903]|Encephalopathy due to GLUT1 deficiency [RCV003445905]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445908]|GLUT1 deficiency syndrome [RCV000396103]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445909]|not provided [RCV001653459] Chr1:42959141 [GRCh38]
Chr1:43424812 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.*462G>C single nucleotide variant Dystonia 9 [RCV000386431]|Encephalopathy due to GLUT1 deficiency [RCV000329519]|not provided [RCV004713679] Chr1:42926579 [GRCh38]
Chr1:43392250 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs) duplication Encephalopathy due to GLUT1 deficiency [RCV003445826]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001855067]|not provided [RCV000281833] Chr1:42929242..42929243 [GRCh38]
Chr1:43394913..43394914 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.*597G>A single nucleotide variant Dystonia 9 [RCV000300008]|Encephalopathy due to GLUT1 deficiency [RCV000261232] Chr1:42926444 [GRCh38]
Chr1:43392115 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*1081T>A single nucleotide variant Dystonia 9 [RCV000319608]|Encephalopathy due to GLUT1 deficiency [RCV000262101] Chr1:42925960 [GRCh38]
Chr1:43391631 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*1611T>C single nucleotide variant Dystonia 9 [RCV000273327]|Encephalopathy due to GLUT1 deficiency [RCV000363226] Chr1:42925430 [GRCh38]
Chr1:43391101 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631101]|not provided [RCV000329396] Chr1:42929245 [GRCh38]
Chr1:43394916 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.*1205C>T single nucleotide variant Dystonia 9 [RCV000274025]|Encephalopathy due to GLUT1 deficiency [RCV000312779] Chr1:42925836 [GRCh38]
Chr1:43391507 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.966_967del (p.Ser324fs) deletion not provided [RCV000341326] Chr1:42929215..42929216 [GRCh38]
Chr1:43394886..43394887 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=) single nucleotide variant Dystonia 9 [RCV000275639]|Encephalopathy due to GLUT1 deficiency [RCV000354051] Chr1:42931189 [GRCh38]
Chr1:43396860 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1016dup (p.Gly340fs) duplication not provided [RCV000372651] Chr1:42928989..42928990 [GRCh38]
Chr1:43394660..43394661 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) single nucleotide variant Dystonia 9 [RCV001099933]|Encephalopathy due to GLUT1 deficiency [RCV001099932]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001078760]|Inborn genetic diseases [RCV002379137]|not provided [RCV000324679] Chr1:42929019 [GRCh38]
Chr1:43394690 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.2(SLC2A1):c.-384G>A single nucleotide variant Dystonic disorder [RCV000266873]|GLUT1 deficiency syndrome [RCV000321945] Chr1:42959035 [GRCh38]
Chr1:43424706 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*322T>G single nucleotide variant Dystonic disorder [RCV000398147]|GLUT1 deficiency syndrome [RCV000278094] Chr1:42926719 [GRCh38]
Chr1:43392390 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*1564C>T single nucleotide variant Dystonia 9 [RCV000372693]|Encephalopathy due to GLUT1 deficiency [RCV000278170] Chr1:42925477 [GRCh38]
Chr1:43391148 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.-192G>C single nucleotide variant Dystonia 9 [RCV000374323]|Encephalopathy due to GLUT1 deficiency [RCV000280051] Chr1:42958843 [GRCh38]
Chr1:43424514 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003315192] Chr1:42930718 [GRCh38]
Chr1:43396389 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.487G>A (p.Gly163Ser) single nucleotide variant not provided [RCV000489368] Chr1:42930655 [GRCh38]
Chr1:43396326 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.19-207T>C single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446080]|Dystonia 9 [RCV003446081]|Encephalopathy due to GLUT1 deficiency [RCV003446079]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446082]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001512190]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446083]|not provided [RCV000487712]|not specified [RCV000598131] Chr1:42943528 [GRCh38]
Chr1:43409199 [GRCh37]
Chr1:1p34.2		 benign|uncertain significance
NM_006516.4(SLC2A1):c.1075-272G>A single nucleotide variant not provided [RCV001574161] Chr1:42928080 [GRCh38]
Chr1:43393751 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.50G>A (p.Gly17Glu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000531748] Chr1:42943290 [GRCh38]
Chr1:43408961 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.506T>C (p.Leu169Pro) single nucleotide variant not provided [RCV003321298] Chr1:42930636 [GRCh38]
Chr1:43396307 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001270785] Chr1:42931103 [GRCh38]
Chr1:43396774 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002298620]|not provided [RCV000489014] Chr1:42930029 [GRCh38]
Chr1:43395700 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.970T>C (p.Ser324Pro) single nucleotide variant not provided [RCV000520273] Chr1:42929212 [GRCh38]
Chr1:43394883 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446130]|Dystonia 9 [RCV003446131]|Encephalopathy due to GLUT1 deficiency [RCV003446129]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446132]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001351725]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446133]|not provided [RCV000761653] Chr1:42929275 [GRCh38]
Chr1:43394946 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.2(SLC2A1):c.-483G>T single nucleotide variant Dystonic disorder [RCV000292934]|GLUT1 deficiency syndrome [RCV000387193] Chr1:42959134 [GRCh38]
Chr1:43424805 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*1147G>C single nucleotide variant Dystonia 9 [RCV000315936]|Encephalopathy due to GLUT1 deficiency [RCV000372848] Chr1:42925894 [GRCh38]
Chr1:43391565 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.2(SLC2A1):c.-272G>A single nucleotide variant Dystonic disorder [RCV000364907]|GLUT1 deficiency syndrome [RCV000398381] Chr1:42958923 [GRCh38]
Chr1:43424594 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*1281A>G single nucleotide variant Dystonia 9 [RCV000305919]|Encephalopathy due to GLUT1 deficiency [RCV000399405] Chr1:42925760 [GRCh38]
Chr1:43391431 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*651G>T single nucleotide variant Dystonia 9 [RCV000398717]|Encephalopathy due to GLUT1 deficiency [RCV000348582] Chr1:42926390 [GRCh38]
Chr1:43392061 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*1016A>G single nucleotide variant Dystonia 9 [RCV000376484]|Encephalopathy due to GLUT1 deficiency [RCV000284437] Chr1:42926025 [GRCh38]
Chr1:43391696 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*784A>G single nucleotide variant Dystonia 9 [RCV000344883]|Encephalopathy due to GLUT1 deficiency [RCV000287535] Chr1:42926257 [GRCh38]
Chr1:43391928 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*750T>A single nucleotide variant Dystonia 9 [RCV000401788]|Encephalopathy due to GLUT1 deficiency [RCV000310110] Chr1:42926291 [GRCh38]
Chr1:43391962 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.96C>G (p.Val32=) single nucleotide variant not specified [RCV000599698] Chr1:42943244 [GRCh38]
Chr1:43408915 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.2(SLC2A1):c.-510G>C single nucleotide variant Dystonic disorder [RCV000344410]|GLUT1 deficiency syndrome [RCV000289450] Chr1:42959161 [GRCh38]
Chr1:43424832 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*514G>T single nucleotide variant Dystonia 9 [RCV000290709]|Encephalopathy due to GLUT1 deficiency [RCV000382742] Chr1:42926527 [GRCh38]
Chr1:43392198 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.2(SLC2A1):c.-225T>G single nucleotide variant Dystonic disorder [RCV000349832]|GLUT1 deficiency syndrome [RCV000313618] Chr1:42958876 [GRCh38]
Chr1:43424547 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*1246G>A single nucleotide variant Dystonia 9 [RCV000344322]|Encephalopathy due to GLUT1 deficiency [RCV000401453] Chr1:42925795 [GRCh38]
Chr1:43391466 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*463T>C single nucleotide variant Dystonia 9 [RCV001099842]|Encephalopathy due to GLUT1 deficiency [RCV001099843] Chr1:42926578 [GRCh38]
Chr1:43392249 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.*368A>C single nucleotide variant Dystonia 9 [RCV001099846]|Encephalopathy due to GLUT1 deficiency [RCV001099847] Chr1:42926673 [GRCh38]
Chr1:43392344 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446156]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002529042]|GLUT1 deficiency syndrome [RCV001249305]|SLC2A1-related disorder [RCV004553293]|not provided [RCV000578988] Chr1:42958650 [GRCh38]
Chr1:43424321 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|not provided
NM_006516.4(SLC2A1):c.1406del (p.Gln469fs) deletion not provided [RCV000598793] Chr1:42927114 [GRCh38]
Chr1:43392785 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1083dup (p.Pro362fs) duplication not provided [RCV000598861] Chr1:42927799..42927800 [GRCh38]
Chr1:43393470..43393471 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV002289706]|Encephalopathy due to GLUT1 deficiency [RCV000517267]|Encephalopathy due to GLUT1 deficiency [RCV001814181]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000792856]|not provided [RCV001091411] Chr1:42929008 [GRCh38]
Chr1:43394679 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001496739]|SLC2A1-related disorder [RCV004737847]|not provided [RCV000585606] Chr1:42927053 [GRCh38]
Chr1:43392724 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.1229_1234del (p.Ser410_Asn411del) deletion not provided [RCV000599180] Chr1:42927649..42927654 [GRCh38]
Chr1:43393320..43393325 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.680-11G>A single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446271]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001043469]|Inborn genetic diseases [RCV000623511]|not provided [RCV000731754] Chr1:42929791 [GRCh38]
Chr1:43395462 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446158]|Dystonia 9 [RCV003446159]|Encephalopathy due to GLUT1 deficiency [RCV003446157]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446160]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001037132]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446161]|not provided [RCV000585123] Chr1:42929236 [GRCh38]
Chr1:43394907 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445919]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001850982]|not provided [RCV000414747] Chr1:42930724 [GRCh38]
Chr1:43396395 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT insertion Childhood onset GLUT1 deficiency syndrome 2 [RCV001807797]|Dystonia 9 [RCV001807798]|Encephalopathy due to GLUT1 deficiency [RCV001807796]|Hereditary cryohydrocytosis with reduced stomatin [RCV001807799] Chr1:42927573..42927574 [GRCh38]
Chr1:43393244..43393245 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446405]|Dystonia 9 [RCV003446406]|Encephalopathy due to GLUT1 deficiency [RCV003446404]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446407]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001855633]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446408]|not provided [RCV000730291] Chr1:42930820 [GRCh38]
Chr1:43396491 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446410]|Dystonia 9 [RCV003446411]|Encephalopathy due to GLUT1 deficiency [RCV003446409]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446412]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001855651]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446413]|Inborn genetic diseases [RCV001265826]|not provided [RCV000731093] Chr1:42927712 [GRCh38]
Chr1:43393383 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs) duplication Encephalopathy due to GLUT1 deficiency [RCV000735239] Chr1:42930842..42930843 [GRCh38]
Chr1:43396513..43396514 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.470dup (p.Thr158fs) duplication Cerebellar ataxia [RCV000415305] Chr1:42930671..42930672 [GRCh38]
Chr1:43396342..43396343 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445924]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000458446]|Paroxysmal dystonia [RCV000415325]|not provided [RCV003321586] Chr1:42930742 [GRCh38]
Chr1:43396413 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446149]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000559813]|not provided [RCV003153721] Chr1:42929625 [GRCh38]
Chr1:43395296 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.227dup (p.Met77fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV000539168] Chr1:42931093..42931094 [GRCh38]
Chr1:43396764..43396765 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446415]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001855780]|not provided [RCV000733447] Chr1:42943291 [GRCh38]
Chr1:43408962 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445921]|Dystonia 9 [RCV003445922]|Encephalopathy due to GLUT1 deficiency [RCV003445920]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV001197510]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003114532]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445923]|Migraine [RCV000415296]|not provided [RCV001770291] Chr1:42927113 [GRCh38]
Chr1:43392784 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1256G>T (p.Gly419Val) single nucleotide variant not provided [RCV000413602] Chr1:42927627 [GRCh38]
Chr1:43393298 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.152G>C (p.Arg51Pro) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV005410906]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000533560] Chr1:42931169 [GRCh38]
Chr1:43396840 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1075-14G>A single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445962]|Dystonia 9 [RCV003445963]|Encephalopathy due to GLUT1 deficiency [RCV003445961]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445964]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002061519]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445965]|not specified [RCV000420608] Chr1:42927822 [GRCh38]
Chr1:43393493 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445952]|Dystonia 9 [RCV003445953]|Encephalopathy due to GLUT1 deficiency [RCV003445951]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445954]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000533804]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445955]|SLC2A1-related disorder [RCV004551428]|not specified [RCV000427143] Chr1:42929297 [GRCh38]
Chr1:43394968 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.972+17T>A single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445957]|Dystonia 9 [RCV003445958]|Encephalopathy due to GLUT1 deficiency [RCV003445956]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445959]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002061518]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445960]|Inborn genetic diseases [RCV003343810]|not provided [RCV001703497] Chr1:42929193 [GRCh38]
Chr1:43394864 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1148C>T (p.Pro383Leu) single nucleotide variant not provided [RCV000442546] Chr1:42927735 [GRCh38]
Chr1:43393406 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445967]|Dystonia 9 [RCV003445968]|Encephalopathy due to GLUT1 deficiency [RCV003445966]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445969]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001089184]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445970]|Inborn genetic diseases [RCV002314158]|not provided [RCV000713337]|not specified [RCV000431278] Chr1:42927728 [GRCh38]
Chr1:43393399 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445996]|Dystonia 9 [RCV003445997]|Encephalopathy due to GLUT1 deficiency [RCV003445995]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445998]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002062513]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445999]|Inborn genetic diseases [RCV002379328]|not provided [RCV000870072] Chr1:42927238 [GRCh38]
Chr1:43392909 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445982]|Dystonia 9 [RCV003445983]|Encephalopathy due to GLUT1 deficiency [RCV003445981]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445984]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648099]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445985]|not provided [RCV003409590]|not specified [RCV000434672] Chr1:42928947 [GRCh38]
Chr1:43394618 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445947]|Dystonia 9 [RCV003445948]|Encephalopathy due to GLUT1 deficiency [RCV003445946]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445949]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000863966]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445950]|Inborn genetic diseases [RCV002374635]|not provided [RCV001718875] Chr1:42929596 [GRCh38]
Chr1:43395267 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.680-16C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445942]|Dystonia 9 [RCV003445943]|Encephalopathy due to GLUT1 deficiency [RCV003445941]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445944]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002061517]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445945]|not specified [RCV000424736] Chr1:42929796 [GRCh38]
Chr1:43395467 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.680-6C>T single nucleotide variant not specified [RCV000435433] Chr1:42929786 [GRCh38]
Chr1:43395457 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-18G>A single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445937]|Dystonia 9 [RCV003445938]|Encephalopathy due to GLUT1 deficiency [RCV003445936]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445939]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002061516]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445940]|not specified [RCV000442864] Chr1:42930053 [GRCh38]
Chr1:43395724 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.276-11C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445927]|Dystonia 9 [RCV003445928]|Encephalopathy due to GLUT1 deficiency [RCV003445926]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445929]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002061515]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445930]|not provided [RCV001712358] Chr1:42930877 [GRCh38]
Chr1:43396548 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446006]|Dystonia 9 [RCV003446007]|Encephalopathy due to GLUT1 deficiency [RCV003446005]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446008]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000864617]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446009]|not provided [RCV001720199] Chr1:42929638 [GRCh38]
Chr1:43395309 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1074+13G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005090860]|not specified [RCV000422041] Chr1:42928919 [GRCh38]
Chr1:43394590 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446057]|Dystonia 9 [RCV003446058]|Encephalopathy due to GLUT1 deficiency [RCV003446056]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446059]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001459551]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446060]|Inborn genetic diseases [RCV002365568]|not provided [RCV001698335] Chr1:42929928 [GRCh38]
Chr1:43395599 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+14C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445990]|Dystonia 9 [RCV003445991]|Encephalopathy due to GLUT1 deficiency [RCV003445989]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445992]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002062428]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445993]|not specified [RCV000435851] Chr1:42958620 [GRCh38]
Chr1:43424291 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.*3C>T single nucleotide variant not specified [RCV000419556] Chr1:42927038 [GRCh38]
Chr1:43392709 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445932]|Dystonia 9 [RCV003445933]|Encephalopathy due to GLUT1 deficiency [RCV003445931]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445934]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000866714]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445935]|not provided [RCV001712201]|not specified [RCV000425718] Chr1:42930799 [GRCh38]
Chr1:43396470 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446020]|Dystonia 9 [RCV003446021]|Encephalopathy due to GLUT1 deficiency [RCV003446019]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446022]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001422964]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446023]|not specified [RCV000443373] Chr1:42930650 [GRCh38]
Chr1:43396321 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446013]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001865350]|not provided [RCV000429681] Chr1:42929954 [GRCh38]
Chr1:43395625 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV002468576]|Encephalopathy due to GLUT1 deficiency [RCV003445980]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001865327]|not provided [RCV000429855] Chr1:42930649 [GRCh38]
Chr1:43396320 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.275+17C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446015]|Dystonia 9 [RCV003446016]|Encephalopathy due to GLUT1 deficiency [RCV003446014]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446017]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002062722]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446018]|not specified [RCV000433158] Chr1:42931029 [GRCh38]
Chr1:43396700 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.276-8G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001088195]|not provided [RCV000472258]|not specified [RCV004999381] Chr1:42930874 [GRCh38]
Chr1:43396545 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003445994]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV002274028]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002524897]|not provided [RCV000432773] Chr1:42929616 [GRCh38]
Chr1:43395287 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.-41C>T single nucleotide variant not specified [RCV000440519] Chr1:42958692 [GRCh38]
Chr1:43424363 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.522C>T (p.Phe174=) single nucleotide variant not specified [RCV000430220] Chr1:42930030 [GRCh38]
Chr1:43395701 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18G>A (p.Lys6=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648073]|not specified [RCV000423309] Chr1:42958634 [GRCh38]
Chr1:43424305 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445976]|Dystonia 9 [RCV003445977]|Encephalopathy due to GLUT1 deficiency [RCV003445975]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445978]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000791499]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445979]|Inborn genetic diseases [RCV002379309]|not provided [RCV000439467] Chr1:42929215 [GRCh38]
Chr1:43394886 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1373G>A (p.Arg458Gln) single nucleotide variant not provided [RCV000440623] Chr1:42927147 [GRCh38]
Chr1:43392818 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1410G>A (p.Gly470=) single nucleotide variant not specified [RCV000420530] Chr1:42927110 [GRCh38]
Chr1:43392781 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1224C>G (p.Gly408=) single nucleotide variant not specified [RCV000423530] Chr1:42927659 [GRCh38]
Chr1:43393330 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446001]|Dystonia 9 [RCV003446002]|Encephalopathy due to GLUT1 deficiency [RCV003446000]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446003]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002519561]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446004]|not provided [RCV001712243] Chr1:42929237 [GRCh38]
Chr1:43394908 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.965T>C (p.Val322Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000470279] Chr1:42929217 [GRCh38]
Chr1:43394888 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446071]|Dystonia 9 [RCV003446072]|Encephalopathy due to GLUT1 deficiency [RCV003446070]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446073]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000459416]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446074]|Inborn genetic diseases [RCV002411534] Chr1:42931132 [GRCh38]
Chr1:43396803 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.731T>G (p.Met244Arg) single nucleotide variant not provided [RCV000482535] Chr1:42929729 [GRCh38]
Chr1:43395400 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.875del (p.Tyr292fs) deletion not provided [RCV000483051] Chr1:42929307 [GRCh38]
Chr1:43394978 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.972+26dup duplication not specified [RCV000480872] Chr1:42929183..42929184 [GRCh38]
Chr1:43394854..43394855 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000476048]|not provided [RCV000593978]|not specified [RCV003320647] Chr1:42931142 [GRCh38]
Chr1:43396813 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) deletion Childhood onset GLUT1 deficiency syndrome 2 [RCV002470868]|Encephalopathy due to GLUT1 deficiency [RCV003446077]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001851153]|not provided [RCV000478031] Chr1:42930635..42930637 [GRCh38]
Chr1:43396306..43396308 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003989532]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000476696]|Hereditary cryohydrocytosis with reduced stomatin [RCV000763915]|Inborn genetic diseases [RCV002523299]|not provided [RCV001580496] Chr1:42931133 [GRCh38]
Chr1:43396804 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.907del (p.Val303fs) deletion not provided [RCV000478834] Chr1:42929275 [GRCh38]
Chr1:43394946 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.514dup (p.Gln172fs) duplication not provided [RCV000485695] Chr1:42930627..42930628 [GRCh38]
Chr1:43396298..43396299 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.633C>T (p.Pro211=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001503128] Chr1:42929919 [GRCh38]
Chr1:43395590 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1278+13del deletion not specified [RCV000487234] Chr1:42927592 [GRCh38]
Chr1:43393263 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.472A>C (p.Thr158Pro) single nucleotide variant not specified [RCV000503688] Chr1:42930670 [GRCh38]
Chr1:43396341 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446095]|Dystonia 9 [RCV003446096]|Encephalopathy due to GLUT1 deficiency [RCV003446094]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446097]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000866190]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446098]|Inborn genetic diseases [RCV002413380]|not provided [RCV001310846]|not specified [RCV000503849] Chr1:42931141 [GRCh38]
Chr1:43396812 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del) deletion Childhood onset GLUT1 deficiency syndrome 2 [RCV000498692] Chr1:42929605..42929616 [GRCh38]
Chr1:43395276..43395287 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.281A>G (p.Asn94Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000531950] Chr1:42930861 [GRCh38]
Chr1:43396532 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter) single nucleotide variant GLUT1 deficiency syndrome [RCV000502046] Chr1:42943291 [GRCh38]
Chr1:43408962 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446105]|Dystonia 9 [RCV000509454]|Dystonia 9 [RCV003446106]|Encephalopathy due to GLUT1 deficiency [RCV003446104]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446107]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001217353]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446108]|not provided [RCV001764508] Chr1:42928946 [GRCh38]
Chr1:43394617 [GRCh37]
Chr1:1p34.2		 uncertain significance|not provided
NM_006516.4(SLC2A1):c.516+7T>G single nucleotide variant not specified [RCV000502220] Chr1:42930619 [GRCh38]
Chr1:43396290 [GRCh37]
Chr1:1p34.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_006516.4(SLC2A1):c.741G>C (p.Glu247Asp) single nucleotide variant not provided [RCV000494114] Chr1:42929719 [GRCh38]
Chr1:43395390 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446086]|Dystonia 9 [RCV003446087]|Encephalopathy due to GLUT1 deficiency [RCV003446085]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446088]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002527078]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446089]|not provided [RCV000494313] Chr1:42930829 [GRCh38]
Chr1:43396500 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_006516.4(SLC2A1):c.1154C>T (p.Pro385Leu) single nucleotide variant Inborn genetic diseases [RCV000624680]|not provided [RCV003229848] Chr1:42927729 [GRCh38]
Chr1:43393400 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=) single nucleotide variant Hereditary cryohydrocytosis with reduced stomatin [RCV000768090] Chr1:42943265 [GRCh38]
Chr1:43408936 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.679+1G>C single nucleotide variant Inborn genetic diseases [RCV000624527] Chr1:42929872 [GRCh38]
Chr1:43395543 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446276]|Dystonia 9 [RCV001096620]|Encephalopathy due to GLUT1 deficiency [RCV001096619]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446277]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648090]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446278]|Inborn genetic diseases [RCV002315969] Chr1:42931149 [GRCh38]
Chr1:43396820 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.482A>C (p.Gln161Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648075] Chr1:42930660 [GRCh38]
Chr1:43396331 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.469G>C (p.Gly157Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648076] Chr1:42930673 [GRCh38]
Chr1:43396344 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.972+4_972+5del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648078] Chr1:42929205..42929206 [GRCh38]
Chr1:43394876..43394877 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1303A>G (p.Ile435Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648081] Chr1:42927217 [GRCh38]
Chr1:43392888 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.517-1G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648082] Chr1:42930036 [GRCh38]
Chr1:43395707 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.800C>T (p.Ala267Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648084] Chr1:42929660 [GRCh38]
Chr1:43395331 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446274]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648086]|not provided [RCV003324781] Chr1:42927684 [GRCh38]
Chr1:43393355 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1179del (p.Glu393fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648091] Chr1:42927704 [GRCh38]
Chr1:43393375 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.19-5C>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446280]|Dystonia 9 [RCV003446281]|Encephalopathy due to GLUT1 deficiency [RCV003446279]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV001195740]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001088710]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446282]|not provided [RCV000761657]|not specified [RCV001662703] Chr1:42943326 [GRCh38]
Chr1:43408997 [GRCh37]
Chr1:1p34.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.1074+8_1074+9delinsTT indel GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648097] Chr1:42928923..42928924 [GRCh38]
Chr1:43394594..43394595 [GRCh37]
Chr1:1p34.2		 likely benign
NC_000001.11:g.(?_42929853)_(42931226_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648105] Chr1:42929853..42931226 [GRCh38]
Chr1:43395524..43396897 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1330TTC[1] (p.Phe445del) microsatellite not provided [RCV003327746] Chr1:42927185..42927187 [GRCh38]
Chr1:43392856..43392858 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1095C>G (p.Ser365=) single nucleotide variant not specified [RCV000601373] Chr1:42927788 [GRCh38]
Chr1:43393459 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1216G>T (p.Val406Phe) single nucleotide variant not provided [RCV003318263] Chr1:42927667 [GRCh38]
Chr1:43393338 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.972+20C>G single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446189]|Dystonia 9 [RCV003446190]|Encephalopathy due to GLUT1 deficiency [RCV003446188]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446191]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002063195]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446192]|not specified [RCV000612454] Chr1:42929190 [GRCh38]
Chr1:43394861 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.867+11C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631148]|not specified [RCV000615669] Chr1:42929582 [GRCh38]
Chr1:43395253 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446267]|Dystonia 9 [RCV003446268]|Encephalopathy due to GLUT1 deficiency [RCV003446266]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446269]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000802557]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446270]|Inborn genetic diseases [RCV000624225]|not provided [RCV001507437] Chr1:42929005 [GRCh38]
Chr1:43394676 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000904143]|Hereditary cryohydrocytosis with reduced stomatin [RCV003224350]|SLC2A1-related disorder [RCV004547752]|not provided [RCV001704788] Chr1:42929279 [GRCh38]
Chr1:43394950 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446163]|Dystonia 9 [RCV003446164]|Encephalopathy due to GLUT1 deficiency [RCV003446162]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446165]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001041007]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446166]|not provided [RCV000585350] Chr1:42929669 [GRCh38]
Chr1:43395340 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1278+12del deletion Childhood onset GLUT1 deficiency syndrome 2 [RCV003446198]|Dystonia 9 [RCV003446199]|Encephalopathy due to GLUT1 deficiency [RCV003446197]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446200]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002529543]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446201]|not specified [RCV000611054] Chr1:42927593 [GRCh38]
Chr1:43393264 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.972+7C>G single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446221]|Dystonia 9 [RCV003446222]|Encephalopathy due to GLUT1 deficiency [RCV003446220]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446223]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001430748]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446224]|not specified [RCV000611368] Chr1:42929203 [GRCh38]
Chr1:43394874 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446184]|Dystonia 9 [RCV003446185]|Encephalopathy due to GLUT1 deficiency [RCV003446183]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446186]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002529412]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446187]|not specified [RCV000614167] Chr1:42927731 [GRCh38]
Chr1:43393402 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.603C>T (p.Cys201=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517246]|not specified [RCV000611462] Chr1:42929949 [GRCh38]
Chr1:43395620 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446216]|Dystonia 9 [RCV003446217]|Encephalopathy due to GLUT1 deficiency [RCV003446215]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446218]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001498195]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446219]|not provided [RCV001712646] Chr1:42927158 [GRCh38]
Chr1:43392829 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446256]|Dystonia 9 [RCV001098261]|Encephalopathy due to GLUT1 deficiency [RCV001098260]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446257]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000867102]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446258]|Inborn genetic diseases [RCV002315933]|SLC2A1-related disorder [RCV004547739]|not provided [RCV001698412] Chr1:42929895 [GRCh38]
Chr1:43395566 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446211]|Dystonia 9 [RCV003446212]|Encephalopathy due to GLUT1 deficiency [RCV003446210]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446213]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002065239]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446214]|not specified [RCV000614910] Chr1:42929608 [GRCh38]
Chr1:43395279 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446246]|Dystonia 9 [RCV003446247]|Encephalopathy due to GLUT1 deficiency [RCV003446245]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446248]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003117407]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446249]|not specified [RCV000603596] Chr1:42929710 [GRCh38]
Chr1:43395381 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1033_1042del (p.Ala345fs) deletion Encephalopathy due to GLUT1 deficiency [RCV000585705] Chr1:42928964..42928973 [GRCh38]
Chr1:43394635..43394644 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.482A>G (p.Gln161Arg) single nucleotide variant not provided [RCV000512938] Chr1:42930660 [GRCh38]
Chr1:43396331 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.46G>T (p.Val16Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648083] Chr1:42943294 [GRCh38]
Chr1:43408965 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.418G>C (p.Val140Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648085] Chr1:42930724 [GRCh38]
Chr1:43396395 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.577_606dup (p.Ile193_Ile202dup) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648087] Chr1:42929945..42929946 [GRCh38]
Chr1:43395616..43395617 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446275]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648089]|not provided [RCV001532534] Chr1:42930856 [GRCh38]
Chr1:43396527 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.924T>C (p.Tyr308=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648098] Chr1:42929258 [GRCh38]
Chr1:43394929 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1050C>T (p.Leu350=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002060764] Chr1:42928956 [GRCh38]
Chr1:43394627 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.721C>T (p.Leu241=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000648103] Chr1:42929739 [GRCh38]
Chr1:43395410 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446110]|Dystonia 9 [RCV003446111]|Encephalopathy due to GLUT1 deficiency [RCV003446109]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446112]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001230574]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446113]|not provided [RCV000513651] Chr1:42929229 [GRCh38]
Chr1:43394900 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446273]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001389445]|Inborn genetic diseases [RCV000624807]|not provided [RCV001091412] Chr1:42930661 [GRCh38]
Chr1:43396332 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) single nucleotide variant Dystonia 9 [RCV001098262]|Encephalopathy due to GLUT1 deficiency [RCV001098263]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001079315]|Inborn genetic diseases [RCV001266484]|SLC2A1-related disorder [RCV004737938]|not provided [RCV000657887] Chr1:42929899 [GRCh38]
Chr1:43395570 [GRCh37]
Chr1:1p34.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446387]|Dystonia 9 [RCV003446388]|Encephalopathy due to GLUT1 deficiency [RCV003446386]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446389]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001506187]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446390]|Inborn genetic diseases [RCV002316131]|not provided [RCV003884715] Chr1:42929946 [GRCh38]
Chr1:43395617 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446382]|Dystonia 9 [RCV003446383]|Encephalopathy due to GLUT1 deficiency [RCV003446381]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446384]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001221728]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446385]|Inborn genetic diseases [RCV002316104] Chr1:42930804 [GRCh38]
Chr1:43396475 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446393]|Dystonia 9 [RCV003446394]|Encephalopathy due to GLUT1 deficiency [RCV003446392]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446395]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001411664]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446396]|Inborn genetic diseases [RCV002314566]|not provided [RCV001532533] Chr1:42930803 [GRCh38]
Chr1:43396474 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001392600]|Hereditary cryohydrocytosis with reduced stomatin [RCV000768089] Chr1:42931129 [GRCh38]
Chr1:43396800 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.114+3G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000686311] Chr1:42943223 [GRCh38]
Chr1:43408894 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1261T>C (p.Cys421Arg) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000684767]|not specified [RCV003489802] Chr1:42927622 [GRCh38]
Chr1:43393293 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.115-1_115dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV000689962] Chr1:42931205..42931206 [GRCh38]
Chr1:43396876..43396877 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1257C>T (p.Gly419=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000701808] Chr1:42927626 [GRCh38]
Chr1:43393297 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.387C>G (p.Ile129Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000704712]|Inborn genetic diseases [RCV002360818] Chr1:42930755 [GRCh38]
Chr1:43396426 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446375]|Dystonia 9 [RCV003446376]|Encephalopathy due to GLUT1 deficiency [RCV003446374]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446377]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000707535]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446378]|not provided [RCV003141711] Chr1:42943309 [GRCh38]
Chr1:43408980 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.666C>A (p.Asn222Lys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000707556] Chr1:42929886 [GRCh38]
Chr1:43395557 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.804C>T (p.Tyr268=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517259]|Inborn genetic diseases [RCV002312261]|SLC2A1-related disorder [RCV004547889] Chr1:42929656 [GRCh38]
Chr1:43395327 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1029C>T (p.Gly343=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000688316] Chr1:42928977 [GRCh38]
Chr1:43394648 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.92G>A (p.Gly31Glu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000705848] Chr1:42943248 [GRCh38]
Chr1:43408919 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446361]|Dystonia 9 [RCV003446362]|Encephalopathy due to GLUT1 deficiency [RCV003446360]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446363]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000703738]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446364]|not provided [RCV001771998] Chr1:42929280 [GRCh38]
Chr1:43394951 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.779T>C (p.Leu260Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000704304] Chr1:42929681 [GRCh38]
Chr1:43395352 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1112C>T (p.Ala371Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000690859] Chr1:42927771 [GRCh38]
Chr1:43393442 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446366]|Dystonia 9 [RCV003446367]|Encephalopathy due to GLUT1 deficiency [RCV003446365]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446368]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000705361]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446369]|not provided [RCV001759415] Chr1:42931185 [GRCh38]
Chr1:43396856 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.56C>T (p.Ala19Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000694163] Chr1:42943284 [GRCh38]
Chr1:43408955 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.11:g.(?_42927021)_(42931226_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000708230] Chr1:42927021..42931226 [GRCh38]
Chr1:43392692..43396897 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1236G>A (p.Trp412Ter) single nucleotide variant Inborn genetic diseases [RCV002318614] Chr1:42927647 [GRCh38]
Chr1:43393318 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1399_1405dup (p.Gln469fs) microsatellite Inborn genetic diseases [RCV002318155] Chr1:42927114..42927115 [GRCh38]
Chr1:43392785..43392786 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.495C>T (p.Val165=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446399]|Dystonia 9 [RCV003446400]|Encephalopathy due to GLUT1 deficiency [RCV003446398]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446401]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001400722]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446402]|Inborn genetic diseases [RCV002318160] Chr1:42930647 [GRCh38]
Chr1:43396318 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.881C>T (p.Ser294Phe) single nucleotide variant Inborn genetic diseases [RCV002318217] Chr1:42929301 [GRCh38]
Chr1:43394972 [GRCh37]
Chr1:1p34.2		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_006516.4(SLC2A1):c.868-108T>G single nucleotide variant not provided [RCV001691653] Chr1:42929422 [GRCh38]
Chr1:43395093 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.1026T>C (p.Ala342=) single nucleotide variant not provided [RCV000978054] Chr1:42928980 [GRCh38]
Chr1:43394651 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV001823005]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001855704]|not provided [RCV000761654] Chr1:42929765 [GRCh38]
Chr1:43395436 [GRCh37]
Chr1:1p34.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001387742]|not provided [RCV000761655]|not specified [RCV002249465] Chr1:42930864 [GRCh38]
Chr1:43396535 [GRCh37]
Chr1:1p34.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.277C>A (p.Arg93=) single nucleotide variant not provided [RCV000761656] Chr1:42930865 [GRCh38]
Chr1:43396536 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs) duplication Hereditary cryohydrocytosis with reduced stomatin [RCV000760180] Chr1:42931159..42931160 [GRCh38]
Chr1:43396830..43396831 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.296T>G (p.Met99Arg) single nucleotide variant not provided [RCV003239128] Chr1:42930846 [GRCh38]
Chr1:43396517 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001647242]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517326] Chr1:42931185 [GRCh38]
Chr1:43396856 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.517-54C>A single nucleotide variant not provided [RCV001574455] Chr1:42930089 [GRCh38]
Chr1:43395760 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.*92G>A single nucleotide variant Dystonia 9 [RCV001096410]|Encephalopathy due to GLUT1 deficiency [RCV001096411] Chr1:42926949 [GRCh38]
Chr1:43392620 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.624del (p.Glu209fs) deletion Encephalopathy due to GLUT1 deficiency [RCV000986290] Chr1:42929928 [GRCh38]
Chr1:43395599 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446498]|Dystonia 9 [RCV003446499]|Encephalopathy due to GLUT1 deficiency [RCV003446497]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446500]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000865056]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446501]|not specified [RCV001816967] Chr1:42929243 [GRCh38]
Chr1:43394914 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446532]|Dystonia 9 [RCV003446533]|Encephalopathy due to GLUT1 deficiency [RCV003446531]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446534]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001474640]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446535]|Inborn genetic diseases [RCV002320095]|SLC2A1-related disorder [RCV004551857] Chr1:42927749 [GRCh38]
Chr1:43393420 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.390T>C (p.Gly130=) single nucleotide variant not provided [RCV000982561] Chr1:42930752 [GRCh38]
Chr1:43396423 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.607G>A (p.Val203Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001071023] Chr1:42929945 [GRCh38]
Chr1:43395616 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1064T>G (p.Leu355Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001044468] Chr1:42928942 [GRCh38]
Chr1:43394613 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.478C>T (p.His160Tyr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001039591] Chr1:42930664 [GRCh38]
Chr1:43396335 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000995643] Chr1:42927649 [GRCh38]
Chr1:43393320 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer) insertion Encephalopathy due to GLUT1 deficiency [RCV000995644] Chr1:42927683..42927684 [GRCh38]
Chr1:43393354..43393355 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NC_000001.11:g.(?_42928912)_(42943341_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001031596] Chr1:43394583..43409012 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.521T>G (p.Phe174Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001046838] Chr1:42930031 [GRCh38]
Chr1:43395702 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.443C>T (p.Ser148Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001069131] Chr1:42930699 [GRCh38]
Chr1:43396370 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1424G>A (p.Ser475Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001042387] Chr1:42927096 [GRCh38]
Chr1:43392767 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.205G>A (p.Val69Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001046931] Chr1:42931116 [GRCh38]
Chr1:43396787 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1279-11_1279-8del microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV001049893] Chr1:42927249..42927252 [GRCh38]
Chr1:43392920..43392923 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_006516.4(SLC2A1):c.84C>T (p.Tyr28=) single nucleotide variant not provided [RCV000827108] Chr1:42943256 [GRCh38]
Chr1:43408927 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446425]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001869075]|GLUT1 deficiency syndrome [RCV000770978]|not provided [RCV002305536] Chr1:42930754 [GRCh38]
Chr1:43396425 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446553]|Dystonia 9 [RCV003446554]|Encephalopathy due to GLUT1 deficiency [RCV003446552]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446555]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000952594]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446556]|not provided [RCV001575044] Chr1:42927776 [GRCh38]
Chr1:43393447 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.954G>A (p.Thr318=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000873435] Chr1:42929228 [GRCh38]
Chr1:43394899 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446493]|Dystonia 9 [RCV003446494]|Encephalopathy due to GLUT1 deficiency [RCV003446492]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446495]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000863799]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446496]|not provided [RCV001683674] Chr1:42929764 [GRCh38]
Chr1:43395435 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1177G>A (p.Glu393Lys) single nucleotide variant not provided [RCV003313427] Chr1:42927706 [GRCh38]
Chr1:43393377 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.203C>T (p.Ser68Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000799246]|not provided [RCV001759518] Chr1:42931118 [GRCh38]
Chr1:43396789 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.18+254T>C single nucleotide variant not provided [RCV000827794] Chr1:42958380 [GRCh38]
Chr1:42958380..42958381 [GRCh38]
Chr1:43424051 [GRCh37]
Chr1:43424051..43424052 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.19-104_19-103del microsatellite not provided [RCV000837239] Chr1:42943424..42943425 [GRCh38]
Chr1:43409095..43409096 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.276-1G>A single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446462]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000823207]|not provided [RCV002225743] Chr1:42930867 [GRCh38]
Chr1:43396538 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1088G>A (p.Trp363Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000804759] Chr1:42927795 [GRCh38]
Chr1:43393466 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446440]|Dystonia 9 [RCV003446441]|Encephalopathy due to GLUT1 deficiency [RCV003446439]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446442]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000806967]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446443]|Inborn genetic diseases [RCV002534834]|not provided [RCV003332261] Chr1:42929998 [GRCh38]
Chr1:43395669 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.19-187C>A single nucleotide variant not provided [RCV000829241] Chr1:42943508 [GRCh38]
Chr1:43409179 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000986291]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000801605] Chr1:42929995 [GRCh38]
Chr1:43395666 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000995645]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000819798]|Hereditary cryohydrocytosis with reduced stomatin [RCV002501134]|not provided [RCV001268517] Chr1:42943239 [GRCh38]
Chr1:43408910 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001333546]|not provided [RCV000840142] Chr1:42931180 [GRCh38]
Chr1:43396851 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.2:c.-390del deletion not provided [RCV000829779]   benign
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446451]|Dystonia 9 [RCV003446452]|Encephalopathy due to GLUT1 deficiency [RCV002290466]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446453]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000819910]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446454] Chr1:42927660 [GRCh38]
Chr1:43393331 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446515]|Dystonia 9 [RCV003446516]|Encephalopathy due to GLUT1 deficiency [RCV003446514]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446517]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001426009]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446518]|Inborn genetic diseases [RCV002320019]|not provided [RCV004711334] Chr1:42930824 [GRCh38]
Chr1:43396495 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.305del (p.Leu102fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000805606] Chr1:42930837 [GRCh38]
Chr1:43396508 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.57del (p.Val20fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000820367] Chr1:42943283 [GRCh38]
Chr1:43408954 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.597G>T (p.Leu199=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001485762] Chr1:42929955 [GRCh38]
Chr1:43395626 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV002283514]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000808808] Chr1:42927619 [GRCh38]
Chr1:43393290 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.2(SLC2A1):c.-555T>A single nucleotide variant not provided [RCV000830050] Chr1:42959206 [GRCh38]
Chr1:43424877 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1250T>C (p.Ile417Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000812546] Chr1:42927633 [GRCh38]
Chr1:43393304 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446445]|Dystonia 9 [RCV003446446]|Encephalopathy due to GLUT1 deficiency [RCV003446444]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446447]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000812775]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446448]|Inborn genetic diseases [RCV004028777]|not provided [RCV001731941] Chr1:42943314 [GRCh38]
Chr1:43408985 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1024G>A (p.Ala342Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001858425]|not provided [RCV000828444] Chr1:42928982 [GRCh38]
Chr1:43394653 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.115-6C>T single nucleotide variant not provided [RCV000841284] Chr1:42931212 [GRCh38]
Chr1:43396883 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.420del (p.Met142fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000800135] Chr1:42930722 [GRCh38]
Chr1:43396393 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.859A>C (p.Ile287Leu) single nucleotide variant Abnormality of metabolism/homeostasis [RCV001003569]|Intellectual disability [RCV000850196] Chr1:42929601 [GRCh38]
Chr1:43395272 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu) single nucleotide variant Intellectual disability [RCV000850198]|not provided [RCV005001108] Chr1:42943233 [GRCh38]
Chr1:43408904 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del) deletion Encephalopathy due to GLUT1 deficiency [RCV000785926] Chr1:42929923..42929931 [GRCh38]
Chr1:43395594..43395602 [GRCh37]
Chr1:1p34.2		 likely pathogenic
GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1 copy number loss not provided [RCV000850001] Chr1:43336799..44713202 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
NM_006516.4(SLC2A1):c.1438G>A (p.Glu480Lys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001373403]|not provided [RCV000840858]|not specified [RCV005240635] Chr1:42927082 [GRCh38]
Chr1:43392753 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.532T>G (p.Ser178Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000815374] Chr1:42930020 [GRCh38]
Chr1:43395691 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.2(SLC2A1):c.-760C>A single nucleotide variant not provided [RCV000827793] Chr1:42959411 [GRCh38]
Chr1:43425082 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.574A>G (p.Ile192Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000795314] Chr1:42929978 [GRCh38]
Chr1:43395649 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446617]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001862694]|not provided [RCV001091410] Chr1:42927066 [GRCh38]
Chr1:43392737 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.179C>G (p.Thr60Arg) single nucleotide variant not provided [RCV001091413] Chr1:42931142 [GRCh38]
Chr1:43396813 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) insertion Encephalopathy due to GLUT1 deficiency [RCV000986293] Chr1:42943293..42943294 [GRCh38]
Chr1:43408964..43408965 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NC_000001.11:g.42943326G>A single nucleotide variant not provided [RCV000828606] Chr1:43408997 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=) single nucleotide variant Dystonia 9 [RCV001099931]|Encephalopathy due to GLUT1 deficiency [RCV001099930]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001467903]|not provided [RCV000993976] Chr1:42928944 [GRCh38]
Chr1:43394615 [GRCh37]
Chr1:1p34.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006516.4(SLC2A1):c.*609G>C single nucleotide variant Dystonia 9 [RCV001096321]|Encephalopathy due to GLUT1 deficiency [RCV001096322] Chr1:42926432 [GRCh38]
Chr1:43392103 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000805007]|not provided [RCV002261220] Chr1:42929661 [GRCh38]
Chr1:43395332 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000824820] Chr1:42943238 [GRCh38]
Chr1:43408909 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000821549]|not provided [RCV001664443] Chr1:42929909 [GRCh38]
Chr1:43395580 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.18+303G>C single nucleotide variant not provided [RCV000828836] Chr1:42958331 [GRCh38]
Chr1:43424002 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.392_460del (p.Val131_Arg153del) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV000799264] Chr1:42930682..42930750 [GRCh38]
Chr1:43396353..43396421 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.120C>T (p.Ile40=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001471413] Chr1:42931201 [GRCh38]
Chr1:43396872 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.295A>G (p.Met99Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000792319] Chr1:42930847 [GRCh38]
Chr1:43396518 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.988C>A (p.Arg330=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001478105] Chr1:42929018 [GRCh38]
Chr1:43394689 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.516+84_516+85del microsatellite not provided [RCV000835237] Chr1:42930541..42930542 [GRCh38]
Chr1:43396212..43396213 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446456]|Dystonia 9 [RCV003446457]|Encephalopathy due to GLUT1 deficiency [RCV003446455]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446458]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000820791]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446459]|Inborn genetic diseases [RCV004029048]|not provided [RCV001507439]|not specified [RCV003317384] Chr1:42943267 [GRCh38]
Chr1:43408938 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.726G>A (p.Gln242=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000872199]|not provided [RCV002064697] Chr1:42929734 [GRCh38]
Chr1:43395405 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1097A>G (p.Tyr366Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000795449] Chr1:42927786 [GRCh38]
Chr1:43393457 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446464]|Dystonia 9 [RCV001332779]|Encephalopathy due to GLUT1 deficiency [RCV003446463]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446465]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000823780]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446466] Chr1:42929654 [GRCh38]
Chr1:43395325 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.-194G>A single nucleotide variant Dystonia 9 [RCV001102131]|Encephalopathy due to GLUT1 deficiency [RCV001100136] Chr1:42958845 [GRCh38]
Chr1:43424516 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.315del (p.Ser106fs) deletion not provided [RCV000993013] Chr1:42930827 [GRCh38]
Chr1:43396498 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.*1321T>A single nucleotide variant Dystonia 9 [RCV001096212]|Encephalopathy due to GLUT1 deficiency [RCV001096213] Chr1:42925720 [GRCh38]
Chr1:43391391 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1284G>A (p.Leu428=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001407400] Chr1:42927236 [GRCh38]
Chr1:43392907 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.274del (p.Arg92fs) deletion Encephalopathy due to GLUT1 deficiency [RCV000986292] Chr1:42931047 [GRCh38]
Chr1:43396718 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1215C>T (p.Ala405=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002067599]|not provided [RCV000993975] Chr1:42927668 [GRCh38]
Chr1:43393339 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001028107]|Dystonia 9 [RCV003446590]|Encephalopathy due to GLUT1 deficiency [RCV003446589]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446591]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001321659]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446592]|SLC2A1-related disorder [RCV004553563]|not provided [RCV001532532] Chr1:42929951 [GRCh38]
Chr1:43395622 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001251646]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517319] Chr1:42929729 [GRCh38]
Chr1:43395400 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del) microsatellite Childhood onset GLUT1 deficiency syndrome 2 [RCV003446567]|Dystonia 9 [RCV003446568]|Encephalopathy due to GLUT1 deficiency [RCV003446566]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446569]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001326528]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446570]|not provided [RCV000993977] Chr1:42929692..42929694 [GRCh38]
Chr1:43395363..43395365 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1336A>G (p.Ile446Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001233123] Chr1:42927184 [GRCh38]
Chr1:43392855 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446650]|Dystonia 9 [RCV003446651]|Encephalopathy due to GLUT1 deficiency [RCV003446649]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV002287482]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001214071]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446652]|Inborn genetic diseases [RCV003163632] Chr1:42930750 [GRCh38]
Chr1:43396421 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446660]|Dystonia 9 [RCV003446661]|Encephalopathy due to GLUT1 deficiency [RCV003446659]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446662]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001223859]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446663]|not provided [RCV003236879] Chr1:42929015 [GRCh38]
Chr1:43394686 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1115T>A (p.Ile372Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001240060] Chr1:42927768 [GRCh38]
Chr1:43393439 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.18+2T>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001234994] Chr1:42958632 [GRCh38]
Chr1:43424303 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.994G>C (p.Gly332Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001221345] Chr1:42929012 [GRCh38]
Chr1:43394683 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.133A>G (p.Asn45Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001228286] Chr1:42931188 [GRCh38]
Chr1:43396859 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.139A>G (p.Thr47Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001226075] Chr1:42931182 [GRCh38]
Chr1:43396853 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446654]|Dystonia 9 [RCV001838656]|Encephalopathy due to GLUT1 deficiency [RCV003446653]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446655]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001215093]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446656]|not provided [RCV001814283] Chr1:42930631 [GRCh38]
Chr1:43396302 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV000986289] Chr1:42929927 [GRCh38]
Chr1:43395598 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.*775A>G single nucleotide variant Dystonia 9 [RCV001101736]|Encephalopathy due to GLUT1 deficiency [RCV001101735] Chr1:42926266 [GRCh38]
Chr1:43391937 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) duplication Hereditary cryohydrocytosis with reduced stomatin [RCV001249689] Chr1:42928977..42928978 [GRCh38]
Chr1:43394648..43394649 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.970_972+3del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001247122] Chr1:42929207..42929212 [GRCh38]
Chr1:43394878..43394883 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.275+13G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003106329] Chr1:42931033 [GRCh38]
Chr1:43396704 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1235G>A (p.Trp412Ter) single nucleotide variant not provided [RCV003237152] Chr1:42927648 [GRCh38]
Chr1:43393319 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1141del (p.Val381fs) deletion Dystonia 9 [RCV003128185] Chr1:42927742 [GRCh38]
Chr1:43393413 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.679+7G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002073298]|not provided [RCV001727977]|not specified [RCV001702179] Chr1:42929866 [GRCh38]
Chr1:43395537 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.1278+30_1278+31insCTCACCATTT insertion not provided [RCV001599113]|not specified [RCV004594380] Chr1:42927574..42927575 [GRCh38]
Chr1:43393245..43393246 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.868-2A>G single nucleotide variant not provided [RCV001542070] Chr1:42929316 [GRCh38]
Chr1:43394987 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446825]|Dystonia 9 [RCV003446826]|Encephalopathy due to GLUT1 deficiency [RCV003446824]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446827]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002072063]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446828]|not provided [RCV001553459] Chr1:42929776 [GRCh38]
Chr1:43395447 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001542520] Chr1:42929609 [GRCh38]
Chr1:43395280 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1075-89G>T single nucleotide variant not provided [RCV001576210] Chr1:42927897 [GRCh38]
Chr1:43393568 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.867+79T>C single nucleotide variant not provided [RCV001561030] Chr1:42929514 [GRCh38]
Chr1:43395185 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1074+118G>C single nucleotide variant not provided [RCV001659144] Chr1:42928814 [GRCh38]
Chr1:43394485 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.517-38G>A single nucleotide variant not provided [RCV001556572] Chr1:42930073 [GRCh38]
Chr1:43395744 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.972+25C>A single nucleotide variant not provided [RCV001645835]|not specified [RCV005237943] Chr1:42929185 [GRCh38]
Chr1:43394856 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446845]|Dystonia 9 [RCV003446846]|Encephalopathy due to GLUT1 deficiency [RCV003446844]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446847]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002592497]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446848]|not provided [RCV001594161] Chr1:42929965 [GRCh38]
Chr1:43395636 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1075-217G>A single nucleotide variant not provided [RCV001719388] Chr1:42928025 [GRCh38]
Chr1:43393696 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.701C>T (p.Thr234Ile) single nucleotide variant not provided [RCV001559726] Chr1:42929759 [GRCh38]
Chr1:43395430 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.852G>C (p.Leu284=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001501898] Chr1:42929608 [GRCh38]
Chr1:43395279 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.360G>A (p.Glu120=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV000870270] Chr1:42930782 [GRCh38]
Chr1:43396453 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.762G>A (p.Glu254=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001499779] Chr1:42929698 [GRCh38]
Chr1:43395369 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446527]|Dystonia 9 [RCV003446528]|Encephalopathy due to GLUT1 deficiency [RCV003151823]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446529]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV000921717]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446530] Chr1:42930788 [GRCh38]
Chr1:43396459 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.812C>T (p.Pro271Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001244532] Chr1:42929648 [GRCh38]
Chr1:43395319 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446628]|Dystonia 9 [RCV001101944]|Encephalopathy due to GLUT1 deficiency [RCV001101943]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446629]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002556048]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446630] Chr1:42929662 [GRCh38]
Chr1:43395333 [GRCh37]
Chr1:1p34.2		 benign|likely benign
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val) single nucleotide variant Dystonia 9 [RCV001100034]|Encephalopathy due to GLUT1 deficiency [RCV001102022] Chr1:42930810 [GRCh38]
Chr1:43396481 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.872T>C (p.Phe291Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001205930] Chr1:42929310 [GRCh38]
Chr1:43394981 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.-129G>T single nucleotide variant Dystonia 9 [RCV001100134]|Encephalopathy due to GLUT1 deficiency [RCV001100135] Chr1:42958780 [GRCh38]
Chr1:43424451 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446817]|Dystonia 9 [RCV003446818]|Encephalopathy due to GLUT1 deficiency [RCV003446816]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446819]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001882607]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446820]|not provided [RCV001540134] Chr1:42929966 [GRCh38]
Chr1:43395637 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.559C>T (p.Pro187Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001225131] Chr1:42929993 [GRCh38]
Chr1:43395664 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1276G>T (p.Glu426Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001227926] Chr1:42927607 [GRCh38]
Chr1:43393278 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446544]|Dystonia 9 [RCV003446545]|Encephalopathy due to GLUT1 deficiency [RCV003446543]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446546]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001472428]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446547]|Inborn genetic diseases [RCV002382131] Chr1:42931198 [GRCh38]
Chr1:43396869 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.177C>T (p.Thr59=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002544477] Chr1:42931144 [GRCh38]
Chr1:43396815 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446833]|Dystonia 9 [RCV003446834]|Encephalopathy due to GLUT1 deficiency [RCV003446832]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446835]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003771735]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446836]|Inborn genetic diseases [RCV003298932]|not provided [RCV001569790] Chr1:42927223 [GRCh38]
Chr1:43392894 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.410_411del (p.Thr137fs) microsatellite not provided [RCV000993978] Chr1:42930731..42930732 [GRCh38]
Chr1:43396402..43396403 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.517-25C>T single nucleotide variant not provided [RCV001557919] Chr1:42930060 [GRCh38]
Chr1:43395731 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1074+231C>G single nucleotide variant not provided [RCV001719383] Chr1:42928701 [GRCh38]
Chr1:43394372 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.1075-233C>T single nucleotide variant not provided [RCV001559424] Chr1:42928041 [GRCh38]
Chr1:43393712 [GRCh37]
Chr1:1p34.2		 likely benign
NC_000001.11:g.42959444C>G single nucleotide variant not provided [RCV001556164] Chr1:42959444 [GRCh38]
Chr1:43425115 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1077_1083del (p.Glu359fs) deletion not provided [RCV001008987] Chr1:42927800..42927806 [GRCh38]
Chr1:43393471..43393477 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.399C>G (p.Cys133Trp) single nucleotide variant not provided [RCV004801611] Chr1:42930743 [GRCh38]
Chr1:43396414 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.369C>G (p.Ile123Met) single nucleotide variant not provided [RCV001593884] Chr1:42930773 [GRCh38]
Chr1:43396444 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.516+79G>A single nucleotide variant not provided [RCV001653075] Chr1:42930547 [GRCh38]
Chr1:43396218 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.115-38C>A single nucleotide variant not provided [RCV001565224] Chr1:42931244 [GRCh38]
Chr1:43396915 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.275+1G>C single nucleotide variant not provided [RCV001659007] Chr1:42931045 [GRCh38]
Chr1:43396716 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.696_697insAT (p.Gly233fs) insertion not provided [RCV001009153] Chr1:42929763..42929764 [GRCh38]
Chr1:43395434..43395435 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=) single nucleotide variant Dystonia 9 [RCV001102024]|Encephalopathy due to GLUT1 deficiency [RCV001102023] Chr1:42930863 [GRCh38]
Chr1:43396534 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.-202G>C single nucleotide variant Dystonia 9 [RCV001102132]|Encephalopathy due to GLUT1 deficiency [RCV001102133] Chr1:42958853 [GRCh38]
Chr1:43424524 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*107G>A single nucleotide variant Dystonia 9 [RCV001101837]|Encephalopathy due to GLUT1 deficiency [RCV001101836] Chr1:42926934 [GRCh38]
Chr1:43392605 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446863]|Dystonia 9 [RCV003446864]|Encephalopathy due to GLUT1 deficiency [RCV003446862]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446865]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002073168]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446866]|not provided [RCV001667831] Chr1:42929225 [GRCh38]
Chr1:43394896 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.19-428G>A single nucleotide variant not provided [RCV001685840] Chr1:42943749 [GRCh38]
Chr1:43409420 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.*1079T>G single nucleotide variant Dystonia 9 [RCV001099756]|Encephalopathy due to GLUT1 deficiency [RCV001099755] Chr1:42925962 [GRCh38]
Chr1:43391633 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*413G>A single nucleotide variant Dystonia 9 [RCV001099844]|Encephalopathy due to GLUT1 deficiency [RCV001099845] Chr1:42926628 [GRCh38]
Chr1:43392299 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1075-299G>A single nucleotide variant not provided [RCV001583012] Chr1:42928107 [GRCh38]
Chr1:43393778 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.178del (p.Thr60fs) deletion not provided [RCV001008312] Chr1:42931143 [GRCh38]
Chr1:43396814 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.399C>A (p.Cys133Ter) single nucleotide variant not provided [RCV001549314] Chr1:42930743 [GRCh38]
Chr1:43396414 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) microsatellite Childhood onset GLUT1 deficiency syndrome 2 [RCV001542521]|Encephalopathy due to GLUT1 deficiency [RCV003446586]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001049017]|Global developmental delay [RCV001003570] Chr1:42929721..42929724 [GRCh38]
Chr1:43395392..43395395 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1048C>G (p.Leu350Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001060599] Chr1:42928958 [GRCh38]
Chr1:43394629 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.259G>A (p.Val87Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001218614]|not provided [RCV004783924] Chr1:42931062 [GRCh38]
Chr1:43396733 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1256G>A (p.Gly419Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001218801] Chr1:42927627 [GRCh38]
Chr1:43393298 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001089897]|Encephalopathy due to GLUT1 deficiency [RCV003446616] Chr1:42929253 [GRCh38]
Chr1:43394924 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001449666]|Encephalopathy due to GLUT1 deficiency [RCV003446600]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001051269]|Inborn genetic diseases [RCV005278719] Chr1:42930855 [GRCh38]
Chr1:43396526 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.620_621insT (p.Glu209fs) insertion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001205552] Chr1:42929931..42929932 [GRCh38]
Chr1:43395602..43395603 [GRCh37]
Chr1:1p34.2		 pathogenic
NC_000001.11:g.(?_42958614)_(42958671_?)dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001031378] Chr1:43424285..43424342 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446594]|Dystonia 9 [RCV001098259]|Encephalopathy due to GLUT1 deficiency [RCV003389331]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446595]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001045125]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446596]|Inborn genetic diseases [RCV002363593]|not provided [RCV001546081] Chr1:42929884 [GRCh38]
Chr1:43395555 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1268A>C (p.Gln423Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001204221]|Inborn genetic diseases [RCV004963183] Chr1:42927615 [GRCh38]
Chr1:43393286 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.276-9del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001208161] Chr1:42930875 [GRCh38]
Chr1:43396546 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NC_000001.11:g.(?_42958614)_(42958671_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001032856] Chr1:43424285..43424342 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.229_239del (p.Met77fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001246954] Chr1:42931082..42931092 [GRCh38]
Chr1:43396753..43396763 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.397T>C (p.Cys133Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001214425] Chr1:42930745 [GRCh38]
Chr1:43396416 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.814A>C (p.Ile272Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001232005] Chr1:42929646 [GRCh38]
Chr1:43395317 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.115-7C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001035791] Chr1:42931213 [GRCh38]
Chr1:43396884 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1436C>T (p.Pro479Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001037106] Chr1:42927084 [GRCh38]
Chr1:43392755 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.183_185delinsAA (p.Thr63fs) indel not provided [RCV001008490] Chr1:42931136..42931138 [GRCh38]
Chr1:43396807..43396809 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.*285C>T single nucleotide variant Dystonia 9 [RCV001101832]|Encephalopathy due to GLUT1 deficiency [RCV001101833] Chr1:42926756 [GRCh38]
Chr1:43392427 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.374del (p.Gly125fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001233741] Chr1:42930768 [GRCh38]
Chr1:43396439 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001003340] Chr1:42927220 [GRCh38]
Chr1:43392891 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.236G>T (p.Gly79Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001204666] Chr1:42931085 [GRCh38]
Chr1:43396756 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*216C>T single nucleotide variant Dystonia 9 [RCV001101835]|Encephalopathy due to GLUT1 deficiency [RCV001101834] Chr1:42926825 [GRCh38]
Chr1:43392496 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.339del (p.Lys114fs) deletion Encephalopathy due to GLUT1 deficiency [RCV001253108]|Intellectual disability [RCV001255340] Chr1:42930803 [GRCh38]
Chr1:43396474 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.293del (p.Met98fs) deletion Childhood onset GLUT1 deficiency syndrome 2 [RCV001255171] Chr1:42930849 [GRCh38]
Chr1:43396520 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001253375]|Intellectual disability [RCV001255358] Chr1:42930643 [GRCh38]
Chr1:43396314 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1263C>A (p.Cys421Ter) single nucleotide variant Inborn genetic diseases [RCV001267367] Chr1:42927620 [GRCh38]
Chr1:43393291 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.275G>C (p.Arg92Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001349830] Chr1:42931046 [GRCh38]
Chr1:43396717 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446673]|Dystonia 9 [RCV003446674]|Encephalopathy due to GLUT1 deficiency [RCV003446672]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446675]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001326291]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446676]|Inborn genetic diseases [RCV001267166]|SLC2A1-related disorder [RCV004548114]|not provided [RCV003135909] Chr1:42929927 [GRCh38]
Chr1:43395598 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.286del (p.Met96fs) deletion Intellectual disability [RCV001257676] Chr1:42930856 [GRCh38]
Chr1:43396527 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1359T>C (p.Pro453=) single nucleotide variant not provided [RCV001310521] Chr1:42927161 [GRCh38]
Chr1:43392832 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+5G>A single nucleotide variant not provided [RCV001529410] Chr1:42958629 [GRCh38]
Chr1:43424300 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1202C>T (p.Pro401Leu) single nucleotide variant SLC2A1-related disorder [RCV001267666] Chr1:42927681 [GRCh38]
Chr1:43393352 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.257del (p.Phe86fs) deletion Inborn genetic diseases [RCV001266277] Chr1:42931064 [GRCh38]
Chr1:43396735 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446668]|Dystonia 9 [RCV003446669]|Encephalopathy due to GLUT1 deficiency [RCV003446667]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446670]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001322048]|Hereditary cryohydrocytosis with reduced stomatin [RCV002504382]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446671]|Inborn genetic diseases [RCV001266485]|not provided [RCV004697096] Chr1:42931169 [GRCh38]
Chr1:43396840 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001779153]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001305693]|Inborn genetic diseases [RCV005278805] Chr1:42929280 [GRCh38]
Chr1:43394951 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446722]|Dystonia 9 [RCV003446723]|Encephalopathy due to GLUT1 deficiency [RCV003446721]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446724]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001351933]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446725]|not provided [RCV001563011] Chr1:42927085 [GRCh38]
Chr1:43392756 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446711]|Dystonia 9 [RCV001332778]|Encephalopathy due to GLUT1 deficiency [RCV003446710]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446712]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002546597]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446713] Chr1:42927172 [GRCh38]
Chr1:43392843 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1196C>G (p.Pro399Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001309039] Chr1:42927687 [GRCh38]
Chr1:43393358 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.154T>A (p.Tyr52Asn) single nucleotide variant not provided [RCV001310847] Chr1:42931167 [GRCh38]
Chr1:43396838 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.556T>C (p.Trp186Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001337709] Chr1:42929996 [GRCh38]
Chr1:43395667 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1327C>T (p.Leu443=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001392504] Chr1:42927193 [GRCh38]
Chr1:43392864 [GRCh37]
Chr1:1p34.2		 likely benign
NC_000001.10:g.(?_43212368)_(43424322_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001382637] Chr1:43212368..43424322 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.977T>C (p.Phe326Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001361604] Chr1:42929029 [GRCh38]
Chr1:43394700 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_43392692)_(43870241_?)del deletion not provided [RCV001382501] Chr1:43392692..43870241 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.546C>T (p.Asn182=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001392157] Chr1:42930006 [GRCh38]
Chr1:43395677 [GRCh37]
Chr1:1p34.2		 likely benign
NC_000001.10:g.(?_43424285)_(43424342_?)dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001296074] Chr1:43424285..43424342 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.275+1del deletion Encephalopathy due to GLUT1 deficiency [RCV001353343] Chr1:42931045 [GRCh38]
Chr1:43396716 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.545A>G (p.Asn182Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001298353] Chr1:42930007 [GRCh38]
Chr1:43395678 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446750]|Dystonia 9 [RCV003446751]|Encephalopathy due to GLUT1 deficiency [RCV003446749]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446752]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001413701]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446753]|not specified [RCV001844290] Chr1:42928937 [GRCh38]
Chr1:43394608 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1332C>T (p.Phe444=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001415015] Chr1:42927188 [GRCh38]
Chr1:43392859 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001449667] Chr1:42929768 [GRCh38]
Chr1:43395439 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.833T>C (p.Leu278Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001382607] Chr1:42929627 [GRCh38]
Chr1:43395298 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1042G>A (p.Ala348Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001321509] Chr1:42928964 [GRCh38]
Chr1:43394635 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.973C>T (p.Leu325=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001321638] Chr1:42929033 [GRCh38]
Chr1:43394704 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.863A>T (p.Asn288Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001297161] Chr1:42929597 [GRCh38]
Chr1:43395268 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1412G>T (p.Gly471Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001320328] Chr1:42927108 [GRCh38]
Chr1:43392779 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446682]|Dystonia 9 [RCV003446683]|Encephalopathy due to GLUT1 deficiency [RCV001281367]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446684]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446685]|not provided [RCV003128772] Chr1:42929673 [GRCh38]
Chr1:43395344 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_43392692)_(43424342_?)dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001372384] Chr1:43392692..43424342 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.690G>C (p.Lys230Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001346218] Chr1:42929770 [GRCh38]
Chr1:43395441 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.185C>T (p.Thr62Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001316126] Chr1:42931136 [GRCh38]
Chr1:43396807 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.606C>G (p.Ile202Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001304146] Chr1:42929946 [GRCh38]
Chr1:43395617 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.130T>C (p.Tyr44His) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001300895] Chr1:42931191 [GRCh38]
Chr1:43396862 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.679+5G>A single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446717]|Dystonia 9 [RCV003446718]|Encephalopathy due to GLUT1 deficiency [RCV003446716]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446719]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001351611]|Hereditary cryohydrocytosis with reduced stomatin [RCV002476616]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446720]|not provided [RCV001586146] Chr1:42929868 [GRCh38]
Chr1:43395539 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.968T>C (p.Val323Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001325248] Chr1:42929214 [GRCh38]
Chr1:43394885 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.617T>G (p.Phe206Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001299553] Chr1:42929935 [GRCh38]
Chr1:43395606 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.764A>G (p.Lys255Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001366415] Chr1:42929696 [GRCh38]
Chr1:43395367 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446728]|Dystonia 9 [RCV003446729]|Encephalopathy due to GLUT1 deficiency [RCV003446727]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446730]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001366831]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446731]|not provided [RCV002473283] Chr1:42929922 [GRCh38]
Chr1:43395593 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.881C>G (p.Ser294Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001318582] Chr1:42929301 [GRCh38]
Chr1:43394972 [GRCh37]
Chr1:1p34.2		 uncertain significance
Single allele deletion not provided [RCV001449866] Chr1:43392711..43424322 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.760G>A (p.Glu254Lys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001337899] Chr1:42929700 [GRCh38]
Chr1:43395371 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.527T>C (p.Leu176Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001337445] Chr1:42930025 [GRCh38]
Chr1:43395696 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1162T>C (p.Trp388Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001365734] Chr1:42927721 [GRCh38]
Chr1:43393392 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.705_706delinsCT (p.Asp236Tyr) indel GLUT1 deficiency syndrome 1, autosomal recessive [RCV001365817] Chr1:42929754..42929755 [GRCh38]
Chr1:43395425..43395426 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.2(SLC2A1):c.-388G>C single nucleotide variant not provided [RCV001507440] Chr1:42959039 [GRCh38]
Chr1:43424710 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.729G>A (p.Glu243=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001405008] Chr1:42929731 [GRCh38]
Chr1:43395402 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.369C>T (p.Ile123=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001480763] Chr1:42930773 [GRCh38]
Chr1:43396444 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1389C>T (p.Ile463=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001403361] Chr1:42927131 [GRCh38]
Chr1:43392802 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1278+8C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001486909] Chr1:42927597 [GRCh38]
Chr1:43393268 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.921G>C (p.Val307=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001470629] Chr1:42929261 [GRCh38]
Chr1:43394932 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1278+9C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001466499] Chr1:42927596 [GRCh38]
Chr1:43393267 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1075-16_1076del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001379801] Chr1:42927807..42927824 [GRCh38]
Chr1:43393478..43393495 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.510C>T (p.Ile170=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001460405] Chr1:42930632 [GRCh38]
Chr1:43396303 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1314T>C (p.Thr438=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001394130] Chr1:42927206 [GRCh38]
Chr1:43392877 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.276-4C>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001418605] Chr1:42930870 [GRCh38]
Chr1:43396541 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003446735]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001381258]|Inborn genetic diseases [RCV002350727] Chr1:42929994 [GRCh38]
Chr1:43395665 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.294_310del (p.Met98fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001380504] Chr1:42930832..42930848 [GRCh38]
Chr1:43396503..43396519 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.451dup (p.Ala151fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001389872] Chr1:42930690..42930691 [GRCh38]
Chr1:43396361..43396362 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.457C>T (p.Arg153Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001390268] Chr1:42930685 [GRCh38]
Chr1:43396356 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.385dup (p.Ile129fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001385177] Chr1:42930756..42930757 [GRCh38]
Chr1:43396427..43396428 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.972+1G>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001386517] Chr1:42929209 [GRCh38]
Chr1:43394880 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.680-2del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001385553] Chr1:42929782 [GRCh38]
Chr1:43395453 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.19-372A>G single nucleotide variant not provided [RCV001534513] Chr1:42943693 [GRCh38]
Chr1:43409364 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.751_757dup (p.Arg253fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001388896] Chr1:42929702..42929703 [GRCh38]
Chr1:43395373..43395374 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1017dup (p.Gly340fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001381772] Chr1:42928988..42928989 [GRCh38]
Chr1:43394659..43394660 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446755]|Dystonia 9 [RCV003446756]|Encephalopathy due to GLUT1 deficiency [RCV003446754]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446757]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001424180]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446758]|Inborn genetic diseases [RCV002322441]|not provided [RCV002070271] Chr1:42930830 [GRCh38]
Chr1:43396501 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.213C>A (p.Ile71=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001438226] Chr1:42931108 [GRCh38]
Chr1:43396779 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1161A>G (p.Pro387=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001393990] Chr1:42927722 [GRCh38]
Chr1:43393393 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.680-4C>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001443007] Chr1:42929784 [GRCh38]
Chr1:43395455 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.474C>T (p.Thr158=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001482225] Chr1:42930668 [GRCh38]
Chr1:43396339 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1074+132T>C single nucleotide variant not provided [RCV001674381] Chr1:42928800 [GRCh38]
Chr1:43394471 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.249G>T (p.Val83=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001499953] Chr1:42931072 [GRCh38]
Chr1:43396743 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1234T>C (p.Trp412Arg) single nucleotide variant not provided [RCV001527344] Chr1:42927649 [GRCh38]
Chr1:43393320 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.517-10C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001480386] Chr1:42930045 [GRCh38]
Chr1:43395716 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+9del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001477585] Chr1:42958625 [GRCh38]
Chr1:43424296 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.-14A>C single nucleotide variant not provided [RCV001716097] Chr1:42958665 [GRCh38]
Chr1:43424336 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+5439G>T single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001591723] Chr1:42953195 [GRCh38]
Chr1:43418866 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.624C>T (p.Pro208=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001473714] Chr1:42929928 [GRCh38]
Chr1:43395599 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1155C>A (p.Pro385=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001464361] Chr1:42927728 [GRCh38]
Chr1:43393399 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.994G>A (p.Gly332Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001963958] Chr1:42929012 [GRCh38]
Chr1:43394683 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1227C>T (p.Phe409=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001497853] Chr1:42927656 [GRCh38]
Chr1:43393327 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001647141]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001376893]|not provided [RCV001773659] Chr1:42929021 [GRCh38]
Chr1:43394692 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.868-2A>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001379976] Chr1:42929316 [GRCh38]
Chr1:43394987 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1320C>G (p.Leu440=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001407326] Chr1:42927200 [GRCh38]
Chr1:43392871 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.634del (p.Arg212fs) deletion Encephalopathy due to GLUT1 deficiency [RCV003446737]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001386229]|not provided [RCV002473289] Chr1:42929918 [GRCh38]
Chr1:43395589 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1341C>T (p.Phe447=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001424686] Chr1:42927179 [GRCh38]
Chr1:43392850 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs) deletion Dystonia 9 [RCV002246713] Chr1:42927736..42927748 [GRCh38]
Chr1:43393407..43393419 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val) single nucleotide variant Dystonia 9 [RCV002246715] Chr1:42930028 [GRCh38]
Chr1:43395699 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.29del (p.Gly10fs) deletion Dystonia 9 [RCV002246718] Chr1:42943311 [GRCh38]
Chr1:43408982 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.884C>A (p.Thr295Lys) single nucleotide variant not provided [RCV001726749] Chr1:42929298 [GRCh38]
Chr1:43394969 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.276-50C>T single nucleotide variant not provided [RCV001732523] Chr1:42930916 [GRCh38]
Chr1:43396587 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV002255241] Chr1:42931112 [GRCh38]
Chr1:43396783 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.13A>T (p.Ser5Cys) single nucleotide variant not provided [RCV001726750] Chr1:42958639 [GRCh38]
Chr1:43424310 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1162T>G (p.Trp388Gly) single nucleotide variant not provided [RCV001726748] Chr1:42927721 [GRCh38]
Chr1:43393392 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs) duplication Dystonia 9 [RCV002246712] Chr1:42927667..42927668 [GRCh38]
Chr1:43393338..43393339 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.867+6T>C single nucleotide variant not provided [RCV002244435] Chr1:42929587 [GRCh38]
Chr1:43395258 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.292_306del (p.Met98_Leu102del) deletion not provided [RCV001755144] Chr1:42930836..42930850 [GRCh38]
Chr1:43396507..43396521 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.635del (p.Arg212fs) deletion Dystonia 9 [RCV002246714] Chr1:42929917 [GRCh38]
Chr1:43395588 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.961A>C (p.Thr321Pro) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001779387] Chr1:42929221 [GRCh38]
Chr1:43394892 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1426G>A (p.Asp476Asn) single nucleotide variant not provided [RCV001763220] Chr1:42927094 [GRCh38]
Chr1:43392765 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1279-2A>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005095137]|not provided [RCV001783759] Chr1:42927243 [GRCh38]
Chr1:43392914 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1191G>C (p.Gln397His) single nucleotide variant not provided [RCV001762770] Chr1:42927692 [GRCh38]
Chr1:43393363 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.680-3C>G single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV001775326] Chr1:42929783 [GRCh38]
Chr1:43395454 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002540585]|not provided [RCV001773311] Chr1:42929959 [GRCh38]
Chr1:43395630 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446907]|Dystonia 9 [RCV003446908]|Encephalopathy due to GLUT1 deficiency [RCV003446906]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446909]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002300581]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446910]|not provided [RCV001771448] Chr1:42930703 [GRCh38]
Chr1:43396374 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.136_140del (p.Gln46fs) deletion not provided [RCV001784981] Chr1:42931181..42931185 [GRCh38]
Chr1:43396852..43396856 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.656A>G (p.Asn219Ser) single nucleotide variant not provided [RCV001774380] Chr1:42929896 [GRCh38]
Chr1:43395567 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.232A>G (p.Ile78Val) single nucleotide variant not provided [RCV001767382] Chr1:42931089 [GRCh38]
Chr1:43396760 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446886]|Dystonia 9 [RCV003446887]|Encephalopathy due to GLUT1 deficiency [RCV003446885]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003389073]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002539910]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446888]|not provided [RCV001751833] Chr1:42927691 [GRCh38]
Chr1:43393362 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs) deletion Encephalopathy due to GLUT1 deficiency [RCV001786326] Chr1:42927169..42927170 [GRCh38]
Chr1:43392840..43392841 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.162G>C (p.Glu54Asp) single nucleotide variant not provided [RCV001769069] Chr1:42931159 [GRCh38]
Chr1:43396830 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.146T>C (p.Val49Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631220]|not provided [RCV001752405] Chr1:42931175 [GRCh38]
Chr1:43396846 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446912]|Dystonia 9 [RCV003446913]|Encephalopathy due to GLUT1 deficiency [RCV003446911]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446914]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001868808]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446915]|not provided [RCV001776560] Chr1:42930029 [GRCh38]
Chr1:43395700 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001868746]|not provided [RCV001768376] Chr1:42929305 [GRCh38]
Chr1:43394976 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446899]|Dystonia 9 [RCV003446900]|Encephalopathy due to GLUT1 deficiency [RCV003446898]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446901]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002544044]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446902]|not provided [RCV001774128] Chr1:42929906 [GRCh38]
Chr1:43395577 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1422A>T (p.Gln474His) single nucleotide variant not provided [RCV001774327] Chr1:42927098 [GRCh38]
Chr1:43392769 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446894]|Dystonia 9 [RCV003446895]|Encephalopathy due to GLUT1 deficiency [RCV003446893]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446896]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002540315]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446897]|not provided [RCV001760819] Chr1:42927070 [GRCh38]
Chr1:43392741 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1403G>T (p.Arg468Leu) single nucleotide variant not provided [RCV001757027] Chr1:42927117 [GRCh38]
Chr1:43392788 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.868-6T>A single nucleotide variant not provided [RCV001768969] Chr1:42929320 [GRCh38]
Chr1:43394991 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1271del (p.Tyr424fs) deletion not provided [RCV001783760] Chr1:42927612 [GRCh38]
Chr1:43393283 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1171G>T (p.Val391Leu) single nucleotide variant not provided [RCV001762964] Chr1:42927712 [GRCh38]
Chr1:43393383 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1278+4A>G single nucleotide variant not provided [RCV001763288] Chr1:42927601 [GRCh38]
Chr1:43393272 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs) insertion Childhood onset GLUT1 deficiency syndrome 2 [RCV001797559] Chr1:42928962..42928963 [GRCh38]
Chr1:43394633..43394634 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1087T>C (p.Trp363Arg) single nucleotide variant not provided [RCV001816054] Chr1:42927796 [GRCh38]
Chr1:43393467 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.54_114+1del deletion not provided [RCV001784982] Chr1:42943225..42943286 [GRCh38]
Chr1:43408896..43408957 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.517-3C>G single nucleotide variant not provided [RCV001756781] Chr1:42930038 [GRCh38]
Chr1:43395709 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) single nucleotide variant Dystonia 9 [RCV002246534]|Encephalopathy due to GLUT1 deficiency [RCV003446921]|not provided [RCV001822118] Chr1:42929721 [GRCh38]
Chr1:43395392 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.426G>T (p.Met142Ile) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003992563]|not provided [RCV001822826] Chr1:42930716 [GRCh38]
Chr1:43396387 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.400G>T (p.Gly134Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002024775] Chr1:42930742 [GRCh38]
Chr1:43396413 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.496G>A (p.Val166Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002045638] Chr1:42930646 [GRCh38]
Chr1:43396317 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1259T>C (p.Met420Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001988848] Chr1:42927624 [GRCh38]
Chr1:43393295 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.325C>G (p.Leu109Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001988331] Chr1:42930817 [GRCh38]
Chr1:43396488 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.159G>T (p.Gly53=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002045680] Chr1:42931162 [GRCh38]
Chr1:43396833 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1288G>A (p.Gly430Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002025310] Chr1:42927232 [GRCh38]
Chr1:43392903 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446964]|Dystonia 9 [RCV003446965]|Encephalopathy due to GLUT1 deficiency [RCV003446963]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446966]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001987841]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446967]|not provided [RCV003442973] Chr1:42930768 [GRCh38]
Chr1:43396439 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.878A>C (p.Tyr293Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001966816] Chr1:42929304 [GRCh38]
Chr1:43394975 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.577A>G (p.Ile193Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001988379] Chr1:42929975 [GRCh38]
Chr1:43395646 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1286G>A (p.Cys429Tyr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001914554] Chr1:42927234 [GRCh38]
Chr1:43392905 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1266C>A (p.Phe422Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001950465] Chr1:42927617 [GRCh38]
Chr1:43393288 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.491TCG[2] (p.Val166del) microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV001987378] Chr1:42930643..42930645 [GRCh38]
Chr1:43396314..43396316 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1181T>C (p.Leu394Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002043799] Chr1:42927702 [GRCh38]
Chr1:43393373 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.104C>T (p.Ala35Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001964992] Chr1:42943236 [GRCh38]
Chr1:43408907 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.32G>A (p.Arg11His) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001926297] Chr1:42943308 [GRCh38]
Chr1:43408979 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.388G>T (p.Gly130Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001871273] Chr1:42930754 [GRCh38]
Chr1:43396425 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.679+6G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001910008] Chr1:42929867 [GRCh38]
Chr1:43395538 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.294dup (p.Met99fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001946595] Chr1:42930847..42930848 [GRCh38]
Chr1:43396518..43396519 [GRCh37]
Chr1:1p34.2		 pathogenic
NC_000001.10:g.(?_43391628)_(43393369_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001970222] Chr1:43391628..43393369 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.142T>G (p.Trp48Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001968173] Chr1:42931179 [GRCh38]
Chr1:43396850 [GRCh37]
Chr1:1p34.2		 uncertain significance
NC_000001.10:g.(?_43424285)_(43424429_?)dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001967703] Chr1:43424285..43424429 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV001822976] Chr1:42927747 [GRCh38]
Chr1:43393418 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.124G>T (p.Glu42Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001949288] Chr1:42931197 [GRCh38]
Chr1:43396868 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.886A>G (p.Ser296Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001892052] Chr1:42929296 [GRCh38]
Chr1:43394967 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.326T>G (p.Leu109Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001948721] Chr1:42930816 [GRCh38]
Chr1:43396487 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.19-9T>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002020973] Chr1:42943330 [GRCh38]
Chr1:43409001 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_006516.4(SLC2A1):c.1075G>T (p.Glu359Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001893165] Chr1:42927808 [GRCh38]
Chr1:43393479 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446943]|Dystonia 9 [RCV003446944]|Encephalopathy due to GLUT1 deficiency [RCV003446942]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446945]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001908714]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446946]|SLC2A1-related disorder [RCV004552094] Chr1:42931200 [GRCh38]
Chr1:43396871 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446958]|Dystonia 9 [RCV003446959]|Encephalopathy due to GLUT1 deficiency [RCV003446957]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446960]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001965282]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446961]|SLC2A1-related disorder [RCV004552126] Chr1:42931055 [GRCh38]
Chr1:43396726 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.46G>A (p.Val16Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005095287]|not provided [RCV001823337] Chr1:42943294 [GRCh38]
Chr1:43408965 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.431dup (p.Gly145_Glu146insTer) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV002037645] Chr1:42930710..42930711 [GRCh38]
Chr1:43396381..43396382 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1444C>A (p.Leu482Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002038100] Chr1:42927076 [GRCh38]
Chr1:43392747 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1412dup (p.Ala472fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001941855] Chr1:42927107..42927108 [GRCh38]
Chr1:43392778..43392779 [GRCh37]
Chr1:1p34.2		 pathogenic
NC_000001.10:g.(?_42922237)_(44395893_?)del deletion not provided [RCV001939188] Chr1:42922237..44395893 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
NM_006516.4(SLC2A1):c.1387A>T (p.Ile463Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001905251]|not provided [RCV004770241] Chr1:42927133 [GRCh38]
Chr1:43392804 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.982G>C (p.Val328Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001953263] Chr1:42929024 [GRCh38]
Chr1:43394695 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1053G>A (p.Met351Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002000900]|not provided [RCV003481236] Chr1:42928953 [GRCh38]
Chr1:43394624 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1366A>G (p.Lys456Glu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001888480] Chr1:42927154 [GRCh38]
Chr1:43392825 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.433G>T (p.Gly145Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001991701] Chr1:42930709 [GRCh38]
Chr1:43396380 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.899A>C (p.Lys300Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001886983] Chr1:42929283 [GRCh38]
Chr1:43394954 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.227G>T (p.Gly76Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001956965] Chr1:42931094 [GRCh38]
Chr1:43396765 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.19-4G>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001933726] Chr1:42943325 [GRCh38]
Chr1:43408996 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.504C>G (p.Ile168Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001919160] Chr1:42930638 [GRCh38]
Chr1:43396309 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.658G>A (p.Glu220Lys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002015074] Chr1:42929894 [GRCh38]
Chr1:43395565 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.48_49insCTTGGCTCCAT (p.Gly17fs) insertion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001922475] Chr1:42943291..42943292 [GRCh38]
Chr1:43408962..43408963 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.898A>T (p.Lys300Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001933932] Chr1:42929284 [GRCh38]
Chr1:43394955 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1343C>T (p.Thr448Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001918084] Chr1:42927177 [GRCh38]
Chr1:43392848 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1412del (p.Gly471fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001974826] Chr1:42927108 [GRCh38]
Chr1:43392779 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1164del (p.Trp388fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV002014835] Chr1:42927719 [GRCh38]
Chr1:43393390 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.275+1G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002027882] Chr1:42931045 [GRCh38]
Chr1:43396716 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.130T>G (p.Tyr44Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001933657] Chr1:42931191 [GRCh38]
Chr1:43396862 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.656dup (p.Asn219fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001939579] Chr1:42929895..42929896 [GRCh38]
Chr1:43395566..43395567 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1224_1225del (p.Phe409fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001972535] Chr1:42927658..42927659 [GRCh38]
Chr1:43393329..43393330 [GRCh37]
Chr1:1p34.2		 pathogenic
NC_000001.10:g.(?_43392712)_(43396897_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001951560] Chr1:43392712..43396897 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.907G>A (p.Val303Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001884429] Chr1:42929275 [GRCh38]
Chr1:43394946 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1047_1074+4dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV002017670] Chr1:42928927..42928928 [GRCh38]
Chr1:43394598..43394599 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1160C>T (p.Pro387Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002035639] Chr1:42927723 [GRCh38]
Chr1:43393394 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.844del (p.Gln282fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001920766] Chr1:42929616 [GRCh38]
Chr1:43395287 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.516+6C>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001994896] Chr1:42930620 [GRCh38]
Chr1:43396291 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446969]|Dystonia 9 [RCV003446970]|Encephalopathy due to GLUT1 deficiency [RCV003446968]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446971]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002012001]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446972]|not provided [RCV002265051] Chr1:42927623 [GRCh38]
Chr1:43393294 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NC_000001.10:g.(?_43424285)_(43424429_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001992878] Chr1:43424285..43424429 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.679+5G>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001931796] Chr1:42929868 [GRCh38]
Chr1:43395539 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1215dup (p.Val406fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV001951124] Chr1:42927667..42927668 [GRCh38]
Chr1:43393338..43393339 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003446937]|Dystonia 9 [RCV003446938]|Encephalopathy due to GLUT1 deficiency [RCV003446936]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003446939]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV001879650]|Hereditary cryohydrocytosis with reduced stomatin [RCV003446940]|not provided [RCV002269373] Chr1:42929703 [GRCh38]
Chr1:43395374 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.294G>C (p.Met98Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001981580] Chr1:42930848 [GRCh38]
Chr1:43396519 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.632C>T (p.Pro211Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001959468] Chr1:42929920 [GRCh38]
Chr1:43395591 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.867T>A (p.Ala289=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001926275] Chr1:42929593 [GRCh38]
Chr1:43395264 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.18+18G>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001898911] Chr1:42958616 [GRCh38]
Chr1:43424287 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.941G>A (p.Gly314Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002019171] Chr1:42929241 [GRCh38]
Chr1:43394912 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NC_000001.10:g.(?_43395244)_(43395726_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001951034] Chr1:43395244..43395726 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1285T>C (p.Cys429Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001979205] Chr1:42927235 [GRCh38]
Chr1:43392906 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.-107G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002010031] Chr1:42958758 [GRCh38]
Chr1:43424429 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.141A>G (p.Thr47=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001877751] Chr1:42931180 [GRCh38]
Chr1:43396851 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NM_006516.4(SLC2A1):c.1223G>C (p.Gly408Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001902216] Chr1:42927660 [GRCh38]
Chr1:43393331 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.233T>C (p.Ile78Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV001933717] Chr1:42931088 [GRCh38]
Chr1:43396759 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.204A>G (p.Ser68=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002087635] Chr1:42931117 [GRCh38]
Chr1:43396788 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.516+12C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002166811] Chr1:42930614 [GRCh38]
Chr1:43396285 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.365del (p.Leu122fs) deletion not provided [RCV002211091] Chr1:42930777 [GRCh38]
Chr1:43396448 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1287T>C (p.Cys429=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002205371] Chr1:42927233 [GRCh38]
Chr1:43392904 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-4C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002129921] Chr1:42930039 [GRCh38]
Chr1:43395710 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.765G>A (p.Lys255=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002071582] Chr1:42929695 [GRCh38]
Chr1:43395366 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs) microsatellite Dystonia 9 [RCV002246711] Chr1:42927232..42927233 [GRCh38]
Chr1:43392903..43392904 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.37dup (p.Met13fs) duplication Dystonia 9 [RCV002246717] Chr1:42943302..42943303 [GRCh38]
Chr1:43408973..43408974 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.973-12C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002081126] Chr1:42929045 [GRCh38]
Chr1:43394716 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.651C>T (p.Asn217=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002093627] Chr1:42929901 [GRCh38]
Chr1:43395572 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.19-18T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002149736] Chr1:42943339 [GRCh38]
Chr1:43409010 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1089G>T (p.Trp363Cys) single nucleotide variant not provided [RCV002211090] Chr1:42927794 [GRCh38]
Chr1:43393465 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.930C>T (p.Thr310=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002196880] Chr1:42929252 [GRCh38]
Chr1:43394923 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1278+11C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002192076] Chr1:42927594 [GRCh38]
Chr1:43393265 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.126G>A (p.Glu42=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002151555] Chr1:42931195 [GRCh38]
Chr1:43396866 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1029C>G (p.Gly343=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002114385] Chr1:42928977 [GRCh38]
Chr1:43394648 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.680-17C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002116276] Chr1:42929797 [GRCh38]
Chr1:43395468 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.972+20C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002116956] Chr1:42929190 [GRCh38]
Chr1:43394861 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.868-20C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002094590] Chr1:42929334 [GRCh38]
Chr1:43395005 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.669G>A (p.Arg223=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002195416] Chr1:42929883 [GRCh38]
Chr1:43395554 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1194T>C (p.Gly398=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002132449] Chr1:42927689 [GRCh38]
Chr1:43393360 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.9C>T (p.Pro3=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002189899] Chr1:42958643 [GRCh38]
Chr1:43424314 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+7C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002095567] Chr1:42958627 [GRCh38]
Chr1:43424298 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.680-11G>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002104590] Chr1:42929791 [GRCh38]
Chr1:43395462 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1200T>C (p.Arg400=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002092754] Chr1:42927683 [GRCh38]
Chr1:43393354 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1279-11G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002076385] Chr1:42927252 [GRCh38]
Chr1:43392923 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1221A>G (p.Ala407=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002079349] Chr1:42927662 [GRCh38]
Chr1:43393333 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1279-9G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002075292] Chr1:42927250 [GRCh38]
Chr1:43392921 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.115-2A>C single nucleotide variant Dystonia 9 [RCV002246716]|Encephalopathy due to GLUT1 deficiency [RCV003445154]|not provided [RCV002508343] Chr1:42931208 [GRCh38]
Chr1:43396879 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1279-6T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002175431] Chr1:42927247 [GRCh38]
Chr1:43392918 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.720C>T (p.Asp240=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002121640] Chr1:42929740 [GRCh38]
Chr1:43395411 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.706G>T (p.Asp236Tyr) single nucleotide variant not provided [RCV002221793] Chr1:42929754 [GRCh38]
Chr1:43395425 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1410G>T (p.Gly470=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002217699] Chr1:42927110 [GRCh38]
Chr1:43392781 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.680-8C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002142667] Chr1:42929788 [GRCh38]
Chr1:43395459 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1279-10T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002218301] Chr1:42927251 [GRCh38]
Chr1:43392922 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) single nucleotide variant Dystonia 9 [RCV002246719]|Encephalopathy due to GLUT1 deficiency [RCV002290852] Chr1:42958651 [GRCh38]
Chr1:43424322 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.957C>T (p.Ala319=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002175610] Chr1:42929225 [GRCh38]
Chr1:43394896 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1149T>C (p.Pro383=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002200222] Chr1:42927734 [GRCh38]
Chr1:43393405 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.667C>A (p.Arg223=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002163973] Chr1:42929885 [GRCh38]
Chr1:43395556 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.129C>T (p.Phe43=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002142000] Chr1:42931192 [GRCh38]
Chr1:43396863 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.6G>A (p.Glu2=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002155878] Chr1:42958646 [GRCh38]
Chr1:43424317 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.115-5T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002160424] Chr1:42931211 [GRCh38]
Chr1:43396882 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.972+9_972+10del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV002217753] Chr1:42929200..42929201 [GRCh38]
Chr1:43394871..43394872 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.972+17T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002182025] Chr1:42929193 [GRCh38]
Chr1:43394864 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.114+18G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002142676]|not provided [RCV002261454] Chr1:42943208 [GRCh38]
Chr1:43408879 [GRCh37]
Chr1:1p34.2		 likely benign|uncertain significance
NC_000001.10:g.(?_43392712)_(43675755_?)dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV003109526] Chr1:43392712..43675755 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.680-12C>A single nucleotide variant Hereditary cryohydrocytosis with reduced stomatin [RCV004784963] Chr1:42929792 [GRCh38]
Chr1:43395463 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.923A>G (p.Tyr308Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003111955]|Inborn genetic diseases [RCV005281353] Chr1:42929259 [GRCh38]
Chr1:43394930 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.607G>C (p.Val203Leu) single nucleotide variant not provided [RCV004784233] Chr1:42929945 [GRCh38]
Chr1:43395616 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.817C>T (p.Leu273Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003121416] Chr1:42929643 [GRCh38]
Chr1:43395314 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1407G>A (p.Gln469=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003121106] Chr1:42927113 [GRCh38]
Chr1:43392784 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.445C>T (p.Pro149Ser) single nucleotide variant not provided [RCV004778301] Chr1:42930697 [GRCh38]
Chr1:43396368 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val) single nucleotide variant GLUT1 deficiency syndrome [RCV002273212] Chr1:42929732 [GRCh38]
Chr1:43395403 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.436G>A (p.Glu146Lys) single nucleotide variant not provided [RCV002247225] Chr1:42930706 [GRCh38]
Chr1:43396377 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.417del (p.Phe139fs) deletion not provided [RCV003131480] Chr1:42930725 [GRCh38]
Chr1:43396396 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.265C>T (p.Arg89Cys) single nucleotide variant not provided [RCV003230084] Chr1:42931056 [GRCh38]
Chr1:43396727 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.115-2A>G single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003322631]|not provided [RCV002269557] Chr1:42931208 [GRCh38]
Chr1:43396879 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter) indel Developmental and epileptic encephalopathy, 1 [RCV002284144] Chr1:42931123..42931124 [GRCh38]
Chr1:43396794..43396795 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.836A>T (p.Gln279Leu) single nucleotide variant not provided [RCV002276350] Chr1:42929624 [GRCh38]
Chr1:43395295 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1403G>A (p.Arg468Gln) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV002286467]|not provided [RCV004591866] Chr1:42927117 [GRCh38]
Chr1:43392788 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.679+1G>A single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV005254047]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV002273876] Chr1:42929872 [GRCh38]
Chr1:43395543 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.927del (p.Thr310fs) deletion Epilepsy with myoclonic atonic seizures [RCV002284149] Chr1:42929255 [GRCh38]
Chr1:43394926 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445160]|Dystonia 9 [RCV003445161]|Encephalopathy due to GLUT1 deficiency [RCV003445159]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445162]|Hereditary cryohydrocytosis with reduced stomatin [RCV002287274]|Inborn genetic diseases [RCV003097719]|not provided [RCV003138154] Chr1:42931071 [GRCh38]
Chr1:43396742 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.106C>A (p.Pro36Thr) single nucleotide variant not provided [RCV002293805] Chr1:42943234 [GRCh38]
Chr1:43408905 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val) single nucleotide variant Hereditary cryohydrocytosis with reduced stomatin [RCV002287271] Chr1:42930658 [GRCh38]
Chr1:43396329 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV002289051] Chr1:42927084 [GRCh38]
Chr1:43392755 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.730A>G (p.Met244Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002297731] Chr1:42929730 [GRCh38]
Chr1:43395401 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.109dup (p.Gln37fs) duplication not provided [RCV003152130] Chr1:42943230..42943231 [GRCh38]
Chr1:43408901..43408902 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1373G>C (p.Arg458Pro) single nucleotide variant not provided [RCV002474131] Chr1:42927147 [GRCh38]
Chr1:43392818 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV002468683] Chr1:42958636 [GRCh38]
Chr1:43424307 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.500del (p.Gly167fs) deletion Encephalopathy due to GLUT1 deficiency [RCV002468791] Chr1:42930642 [GRCh38]
Chr1:43396313 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.98T>C (p.Ile33Thr) single nucleotide variant not provided [RCV003234260] Chr1:42943242 [GRCh38]
Chr1:43408913 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.77T>C (p.Phe26Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002294853] Chr1:42943263 [GRCh38]
Chr1:43408934 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.370C>G (p.Leu124Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002297886] Chr1:42930772 [GRCh38]
Chr1:43396443 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.325C>T (p.Leu109Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002298353] Chr1:42930817 [GRCh38]
Chr1:43396488 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.752T>C (p.Met251Thr) single nucleotide variant not provided [RCV002306051] Chr1:42929708 [GRCh38]
Chr1:43395379 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.183C>A (p.Leu61=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517422]|Inborn genetic diseases [RCV002412795]|not specified [RCV003479425] Chr1:42931138 [GRCh38]
Chr1:43396809 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445166]|Dystonia 9 [RCV003445167]|Encephalopathy due to GLUT1 deficiency [RCV003445165]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445168]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002302276]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445169]|not provided [RCV003443025] Chr1:42927753 [GRCh38]
Chr1:43393424 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.319G>A (p.Ala107Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002858368] Chr1:42930823 [GRCh38]
Chr1:43396494 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.115-3C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002994798] Chr1:42931209 [GRCh38]
Chr1:43396880 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.616T>C (p.Phe206Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002616054] Chr1:42929936 [GRCh38]
Chr1:43395607 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.21G>C (p.Lys7Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003014743] Chr1:42943319 [GRCh38]
Chr1:43408990 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.202dup (p.Ser68fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV002819269] Chr1:42931118..42931119 [GRCh38]
Chr1:43396789..43396790 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.153C>T (p.Arg51=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003034589] Chr1:42931168 [GRCh38]
Chr1:43396839 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.716A>G (p.His239Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002908445] Chr1:42929744 [GRCh38]
Chr1:43395415 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.447C>G (p.Pro149=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003095375] Chr1:42930695 [GRCh38]
Chr1:43396366 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1258A>G (p.Met420Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002839231] Chr1:42927625 [GRCh38]
Chr1:43393296 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1037G>A (p.Gly346Asp) single nucleotide variant Inborn genetic diseases [RCV002860659] Chr1:42928969 [GRCh38]
Chr1:43394640 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1010A>C (p.His337Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002819343] Chr1:42928996 [GRCh38]
Chr1:43394667 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.273C>T (p.Gly91=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003017165] Chr1:42931048 [GRCh38]
Chr1:43396719 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1104_1105dup (p.Ile369fs) duplication not provided [RCV002511584] Chr1:42927777..42927778 [GRCh38]
Chr1:43393448..43393449 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.574A>C (p.Ile192Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002640290] Chr1:42929978 [GRCh38]
Chr1:43395649 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.104C>G (p.Ala35Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003002257] Chr1:42943236 [GRCh38]
Chr1:43408907 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1216G>C (p.Val406Leu) single nucleotide variant Inborn genetic diseases [RCV002708174] Chr1:42927667 [GRCh38]
Chr1:43393338 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.672C>T (p.Ala224=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002953725] Chr1:42929880 [GRCh38]
Chr1:43395551 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1131CTT[1] (p.Phe379del) microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV002927716]|not provided [RCV003228107] Chr1:42927747..42927749 [GRCh38]
Chr1:43393418..43393420 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445194]|Dystonia 9 [RCV003445195]|Encephalopathy due to GLUT1 deficiency [RCV003445193]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445196]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003038116]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445197]|not provided [RCV003410036] Chr1:42931046 [GRCh38]
Chr1:43396717 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.338C>G (p.Ser113Trp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002927695] Chr1:42930804 [GRCh38]
Chr1:43396475 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.652_657del (p.Arg218_Asn219del) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV002889797] Chr1:42929895..42929900 [GRCh38]
Chr1:43395566..43395571 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1009C>T (p.His337Tyr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002640261] Chr1:42928997 [GRCh38]
Chr1:43394668 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.889A>G (p.Ile297Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003002945] Chr1:42929293 [GRCh38]
Chr1:43394964 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.381C>T (p.Phe127=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002909998] Chr1:42930761 [GRCh38]
Chr1:43396432 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+10G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002867975] Chr1:42958624 [GRCh38]
Chr1:43424295 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445210]|Dystonia 9 [RCV003445211]|Encephalopathy due to GLUT1 deficiency [RCV003445209]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445212]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002637978]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445213]|not specified [RCV003388158] Chr1:42927799 [GRCh38]
Chr1:43393470 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1A>T (p.Met1Leu) single nucleotide variant Inborn genetic diseases [RCV002798420] Chr1:42958651 [GRCh38]
Chr1:43424322 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.997_1000del (p.Arg333fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV002885151] Chr1:42929006..42929009 [GRCh38]
Chr1:43394677..43394680 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.943A>G (p.Ile315Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002705540] Chr1:42929239 [GRCh38]
Chr1:43394910 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.197C>A (p.Ser66Tyr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002867392] Chr1:42931124 [GRCh38]
Chr1:43396795 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1417A>G (p.Ser473Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002736146] Chr1:42927103 [GRCh38]
Chr1:43392774 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.442_444dup (p.Ser148_Pro149insSer) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV003019095] Chr1:42930697..42930698 [GRCh38]
Chr1:43396368..43396369 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.653G>T (p.Arg218Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003080032] Chr1:42929899 [GRCh38]
Chr1:43395570 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1376C>A (p.Thr459Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003039025] Chr1:42927144 [GRCh38]
Chr1:43392815 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1038T>C (p.Gly346=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002948384] Chr1:42928968 [GRCh38]
Chr1:43394639 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.315G>C (p.Val105=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002923398]|SLC2A1-related disorder [RCV004548420] Chr1:42930827 [GRCh38]
Chr1:43396498 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1335C>T (p.Phe445=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003038467] Chr1:42927185 [GRCh38]
Chr1:43392856 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.308C>A (p.Ala103Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002886385]|not provided [RCV004763472] Chr1:42930834 [GRCh38]
Chr1:43396505 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.35T>A (p.Leu12His) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003055058] Chr1:42943305 [GRCh38]
Chr1:43408976 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.868-12_868-11del microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV003018475] Chr1:42929325..42929326 [GRCh38]
Chr1:43394996..43394997 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs) microsatellite Childhood onset GLUT1 deficiency syndrome 2 [RCV004771524]|Encephalopathy due to GLUT1 deficiency [RCV003445177]|not provided [RCV002510083] Chr1:42929717..42929718 [GRCh38]
Chr1:43395388..43395389 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1075-7T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002627141] Chr1:42927815 [GRCh38]
Chr1:43393486 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1440G>A (p.Glu480=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003085440] Chr1:42927080 [GRCh38]
Chr1:43392751 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.516+17T>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003025774] Chr1:42930609 [GRCh38]
Chr1:43396280 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.303G>A (p.Leu101=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003085881] Chr1:42930839 [GRCh38]
Chr1:43396510 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.758G>A (p.Arg253Gln) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002959100]|not provided [RCV004711929] Chr1:42929702 [GRCh38]
Chr1:43395373 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445204]|Dystonia 9 [RCV003445205]|Encephalopathy due to GLUT1 deficiency [RCV003445203]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445206]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002596063]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445207]|not provided [RCV003138532] Chr1:42927178 [GRCh38]
Chr1:43392849 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.829G>C (p.Val277Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002667376]|not provided [RCV005233002] Chr1:42929631 [GRCh38]
Chr1:43395302 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.499G>A (p.Gly167Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002644268] Chr1:42930643 [GRCh38]
Chr1:43396314 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.163_164dup (p.Ser55fs) microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV002852534] Chr1:42931156..42931157 [GRCh38]
Chr1:43396827..43396828 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1185del (p.Phe395fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV002664156] Chr1:42927698 [GRCh38]
Chr1:43393369 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.539T>A (p.Met180Lys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002664157] Chr1:42930013 [GRCh38]
Chr1:43395684 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.425T>G (p.Met142Arg) single nucleotide variant not provided [RCV002508447] Chr1:42930717 [GRCh38]
Chr1:43396388 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.19-20T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003041379] Chr1:42943341 [GRCh38]
Chr1:43409012 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.11G>A (p.Ser4Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002667524] Chr1:42958641 [GRCh38]
Chr1:43424312 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.36C>T (p.Leu12=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002829312] Chr1:42943304 [GRCh38]
Chr1:43408975 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1045A>G (p.Ile349Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003083016] Chr1:42928961 [GRCh38]
Chr1:43394632 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.757C>G (p.Arg253Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003084880] Chr1:42929703 [GRCh38]
Chr1:43395374 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.216T>G (p.Phe72Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002852915] Chr1:42931105 [GRCh38]
Chr1:43396776 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.362T>G (p.Met121Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002917768] Chr1:42930780 [GRCh38]
Chr1:43396451 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.654C>G (p.Arg218=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002664221]|SLC2A1-related disorder [RCV004738698] Chr1:42929898 [GRCh38]
Chr1:43395569 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.680-14T>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003083375] Chr1:42929794 [GRCh38]
Chr1:43395465 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.936C>T (p.Gly312=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002800705] Chr1:42929246 [GRCh38]
Chr1:43394917 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV003445182]|Dystonia 9 [RCV003445183]|Encephalopathy due to GLUT1 deficiency [RCV003445181]|Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003445184]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV002941877]|Hereditary cryohydrocytosis with reduced stomatin [RCV003445185]|not provided [RCV003443092] Chr1:42928994 [GRCh38]
Chr1:43394665 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.680-2A>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002938487] Chr1:42929782 [GRCh38]
Chr1:43395453 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1075-4A>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002651273] Chr1:42927812 [GRCh38]
Chr1:43393483 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1189C>T (p.Gln397Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002648144] Chr1:42927694 [GRCh38]
Chr1:43393365 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.680-7C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002807041] Chr1:42929787 [GRCh38]
Chr1:43395458 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-17G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002715198] Chr1:42930052 [GRCh38]
Chr1:43395723 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1236G>T (p.Trp412Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003028441] Chr1:42927647 [GRCh38]
Chr1:43393318 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.471C>T (p.Gly157=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002628477] Chr1:42930671 [GRCh38]
Chr1:43396342 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.973-18C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003044369] Chr1:42929051 [GRCh38]
Chr1:43394722 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.709G>A (p.Val237Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002648145] Chr1:42929751 [GRCh38]
Chr1:43395422 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.422C>T (p.Pro141Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003029197] Chr1:42930720 [GRCh38]
Chr1:43396391 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.880T>G (p.Ser294Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003009255] Chr1:42929302 [GRCh38]
Chr1:43394973 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.105C>T (p.Ala35=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003060993] Chr1:42943235 [GRCh38]
Chr1:43408906 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-16C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002715500] Chr1:42930051 [GRCh38]
Chr1:43395722 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1254G>A (p.Val418=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002833073] Chr1:42927629 [GRCh38]
Chr1:43393300 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.143G>A (p.Trp48Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002648146] Chr1:42931178 [GRCh38]
Chr1:43396849 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.679+13C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003009385] Chr1:42929860 [GRCh38]
Chr1:43395531 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1278+11_1278+14dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV002580311] Chr1:42927590..42927591 [GRCh38]
Chr1:43393261..43393262 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+6T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003064346] Chr1:42958628 [GRCh38]
Chr1:43424299 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.377_382dup (p.Phe127_Ile128insSerPhe) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV003045403] Chr1:42930759..42930760 [GRCh38]
Chr1:43396430..43396431 [GRCh37]
Chr1:1p34.2		 likely pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.181C>T (p.Leu61Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003048589] Chr1:42931140 [GRCh38]
Chr1:43396811 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1381G>A (p.Asp461Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003060699] Chr1:42927139 [GRCh38]
Chr1:43392810 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.972+17_972+22del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003088331] Chr1:42929188..42929193 [GRCh38]
Chr1:43394859..43394864 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.308C>T (p.Ala103Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002630926] Chr1:42930834 [GRCh38]
Chr1:43396505 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1208C>T (p.Ala403Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003063972] Chr1:42927675 [GRCh38]
Chr1:43393346 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.973-12C>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003089579] Chr1:42929045 [GRCh38]
Chr1:43394716 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.275+14G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003047038] Chr1:42931032 [GRCh38]
Chr1:43396703 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1075-20del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV002810726] Chr1:42927828 [GRCh38]
Chr1:43393499 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.985G>C (p.Glu329Gln) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002634287] Chr1:42929021 [GRCh38]
Chr1:43394692 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.867+18C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003067003] Chr1:42929575 [GRCh38]
Chr1:43395246 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.292A>G (p.Met98Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002653556] Chr1:42930850 [GRCh38]
Chr1:43396521 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1278+6A>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003067626] Chr1:42927599 [GRCh38]
Chr1:43393270 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.921G>A (p.Val307=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003072681] Chr1:42929261 [GRCh38]
Chr1:43394932 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.12C>T (p.Ser4=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003070323] Chr1:42958640 [GRCh38]
Chr1:43424311 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1278+3G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002634757] Chr1:42927602 [GRCh38]
Chr1:43393273 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.950A>C (p.Asn317Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002634288] Chr1:42929232 [GRCh38]
Chr1:43394903 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.423C>G (p.Pro141=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003051886] Chr1:42930719 [GRCh38]
Chr1:43396390 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.175ACCACGCTC[1] (p.59TTL[1]) microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV003066315] Chr1:42931129..42931137 [GRCh38]
Chr1:43396800..43396808 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.754A>G (p.Met252Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002607737] Chr1:42929706 [GRCh38]
Chr1:43395377 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.18+10G>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002721979] Chr1:42958624 [GRCh38]
Chr1:43424295 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.504C>T (p.Ile168=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002584021] Chr1:42930638 [GRCh38]
Chr1:43396309 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.868-19A>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003068397] Chr1:42929333 [GRCh38]
Chr1:43395004 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.582C>T (p.Phe194=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV002612481] Chr1:42929970 [GRCh38]
Chr1:43395641 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1367A>C (p.Lys456Thr) single nucleotide variant not provided [RCV003219082] Chr1:42927153 [GRCh38]
Chr1:43392824 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.43G>T (p.Ala15Ser) single nucleotide variant not provided [RCV003136760] Chr1:42943297 [GRCh38]
Chr1:43408968 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.952A>G (p.Thr318Ala) single nucleotide variant not provided [RCV003136761] Chr1:42929230 [GRCh38]
Chr1:43394901 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.839T>A (p.Leu280Gln) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003224998] Chr1:42929621 [GRCh38]
Chr1:43395292 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003221773] Chr1:42927623 [GRCh38]
Chr1:43393294 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.111G>T (p.Gln37His) single nucleotide variant not provided [RCV003227208] Chr1:42943229 [GRCh38]
Chr1:43408900 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1174G>T (p.Ala392Ser) single nucleotide variant not provided [RCV003319074] Chr1:42927709 [GRCh38]
Chr1:43393380 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs) deletion Encephalopathy due to GLUT1 deficiency [RCV003337726]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517485] Chr1:42929720..42929723 [GRCh38]
Chr1:43395391..43395394 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter) single nucleotide variant Dystonia 9 [RCV003337741] Chr1:42931127 [GRCh38]
Chr1:43396798 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV004720393]|Encephalopathy due to GLUT1 deficiency [RCV003387552] Chr1:42929269 [GRCh38]
Chr1:43394940 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.679+3A>G single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003333478] Chr1:42929870 [GRCh38]
Chr1:43395541 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1243A>C (p.Asn415His) single nucleotide variant not provided [RCV003332896] Chr1:42927640 [GRCh38]
Chr1:43393311 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1421A>C (p.Gln474Pro) single nucleotide variant Inborn genetic diseases [RCV003369551] Chr1:42927099 [GRCh38]
Chr1:43392770 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.2T>G (p.Met1Arg) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV003479918] Chr1:42958650 [GRCh38]
Chr1:43424321 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.794C>T (p.Ser265Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631327]|not provided [RCV003480531] Chr1:42929666 [GRCh38]
Chr1:43395337 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1113C>T (p.Ala371=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003874632] Chr1:42927770 [GRCh38]
Chr1:43393441 [GRCh37]
Chr1:1p34.2		 likely benign
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_006516.4(SLC2A1):c.1210A>T (p.Ile404Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003873525] Chr1:42927673 [GRCh38]
Chr1:43393344 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1338C>T (p.Ile446=) single nucleotide variant not provided [RCV003480530] Chr1:42927182 [GRCh38]
Chr1:43392853 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.424A>G (p.Met142Val) single nucleotide variant SLC2A1-related disorder [RCV004552455] Chr1:42930718 [GRCh38]
Chr1:43396389 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.588G>C (p.Pro196=) single nucleotide variant not provided [RCV003406414] Chr1:42929964 [GRCh38]
Chr1:43395635 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.263A>G (p.Asn88Ser) single nucleotide variant not provided [RCV003441505] Chr1:42931058 [GRCh38]
Chr1:43396729 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.18+18G>T single nucleotide variant SLC2A1-related disorder [RCV004552596] Chr1:42958616 [GRCh38]
Chr1:43424287 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.276-2A>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517498]|SLC2A1-related disorder [RCV004552492] Chr1:42930868 [GRCh38]
Chr1:43396539 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.876T>G (p.Tyr292Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518178] Chr1:42929306 [GRCh38]
Chr1:43394977 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.710T>A (p.Val237Glu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518332] Chr1:42929750 [GRCh38]
Chr1:43395421 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1007T>C (p.Leu336Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517647] Chr1:42928999 [GRCh38]
Chr1:43394670 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.52G>A (p.Gly18Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518034] Chr1:42943288 [GRCh38]
Chr1:43408959 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1141G>A (p.Val381Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518510]|not provided [RCV004812495] Chr1:42927742 [GRCh38]
Chr1:43393413 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.37A>C (p.Met13Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517510]|not provided [RCV003491497] Chr1:42943303 [GRCh38]
Chr1:43408974 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.738A>C (p.Glu246Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517845]|not provided [RCV004780598] Chr1:42929722 [GRCh38]
Chr1:43395393 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.640dup (p.Leu214fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517903] Chr1:42929911..42929912 [GRCh38]
Chr1:43395582..43395583 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.784C>T (p.Leu262=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518015] Chr1:42929676 [GRCh38]
Chr1:43395347 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-15C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517985] Chr1:42930050 [GRCh38]
Chr1:43395721 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.276-14G>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518206] Chr1:42930880 [GRCh38]
Chr1:43396551 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.952A>C (p.Thr318Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518033] Chr1:42929230 [GRCh38]
Chr1:43394901 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1248C>A (p.Phe416Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518072]|not provided [RCV004786951] Chr1:42927635 [GRCh38]
Chr1:43393306 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1075-15C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003849237] Chr1:42927823 [GRCh38]
Chr1:43393494 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.875A>C (p.Tyr292Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517885] Chr1:42929307 [GRCh38]
Chr1:43394978 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.418G>T (p.Val140Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517892] Chr1:42930724 [GRCh38]
Chr1:43396395 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.276-5C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518303] Chr1:42930871 [GRCh38]
Chr1:43396542 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1227C>G (p.Phe409Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518067] Chr1:42927656 [GRCh38]
Chr1:43393327 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.868-5G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517047] Chr1:42929319 [GRCh38]
Chr1:43394990 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.973-3C>T single nucleotide variant not provided [RCV003491496] Chr1:42929036 [GRCh38]
Chr1:43394707 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.892T>A (p.Phe298Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003516753] Chr1:42929290 [GRCh38]
Chr1:43394961 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.452C>A (p.Ala151Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003876967] Chr1:42930690 [GRCh38]
Chr1:43396361 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.836dup (p.Leu280fs) duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV003516863] Chr1:42929623..42929624 [GRCh38]
Chr1:43395294..43395295 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.248_249del (p.Val83fs) microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV003516703] Chr1:42931072..42931073 [GRCh38]
Chr1:43396743..43396744 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1100_1101del (p.Leu367fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517980] Chr1:42927782..42927783 [GRCh38]
Chr1:43393453..43393454 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.480C>T (p.His160=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517651] Chr1:42930662 [GRCh38]
Chr1:43396333 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1158C>G (p.Ile386Met) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517990] Chr1:42927725 [GRCh38]
Chr1:43393396 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.311_314del (p.Phe104fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517688] Chr1:42930828..42930831 [GRCh38]
Chr1:43396499..43396502 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.608TGC[1] (p.Leu204del) microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517694] Chr1:42929939..42929941 [GRCh38]
Chr1:43395610..43395612 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1A>C (p.Met1Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003516871] Chr1:42958651 [GRCh38]
Chr1:43424322 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.962C>T (p.Thr321Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517849] Chr1:42929220 [GRCh38]
Chr1:43394891 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.683T>C (p.Leu228Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517010] Chr1:42929777 [GRCh38]
Chr1:43395448 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.55G>A (p.Ala19Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517884] Chr1:42943285 [GRCh38]
Chr1:43408956 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.516+9G>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517028] Chr1:42930617 [GRCh38]
Chr1:43396288 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.322G>C (p.Val108Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003517580] Chr1:42930820 [GRCh38]
Chr1:43396491 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1278+13A>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003879286] Chr1:42927592 [GRCh38]
Chr1:43393263 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-3C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003881854] Chr1:42930038 [GRCh38]
Chr1:43395709 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1101G>T (p.Leu367=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632260] Chr1:42927782 [GRCh38]
Chr1:43393453 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.590C>T (p.Ala197Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632379] Chr1:42929962 [GRCh38]
Chr1:43395633 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.880T>C (p.Ser294Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518722] Chr1:42929302 [GRCh38]
Chr1:43394973 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.740A>G (p.Glu247Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518723] Chr1:42929720 [GRCh38]
Chr1:43395391 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.931A>G (p.Ile311Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518717] Chr1:42929251 [GRCh38]
Chr1:43394922 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.725del (p.Gln242fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518726]|not provided [RCV005412565] Chr1:42929735 [GRCh38]
Chr1:43395406 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1210A>G (p.Ile404Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518829]|not provided [RCV004812497] Chr1:42927673 [GRCh38]
Chr1:43393344 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.115-10C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632678] Chr1:42931216 [GRCh38]
Chr1:43396887 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.260T>C (p.Val87Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518796] Chr1:42931061 [GRCh38]
Chr1:43396732 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.964G>C (p.Val322Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631499] Chr1:42929218 [GRCh38]
Chr1:43394889 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1348T>G (p.Phe450Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631536] Chr1:42927172 [GRCh38]
Chr1:43392843 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1075-14_1075-10dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632970] Chr1:42927817..42927818 [GRCh38]
Chr1:43393488..43393489 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1382A>T (p.Asp461Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631594] Chr1:42927138 [GRCh38]
Chr1:43392809 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1058T>C (p.Ile353Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632973] Chr1:42928948 [GRCh38]
Chr1:43394619 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.605T>C (p.Ile202Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631750] Chr1:42929947 [GRCh38]
Chr1:43395618 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.773C>A (p.Thr258Asn) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631846] Chr1:42929687 [GRCh38]
Chr1:43395358 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.811C>G (p.Pro271Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631929] Chr1:42929649 [GRCh38]
Chr1:43395320 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.516+19T>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631883] Chr1:42930607 [GRCh38]
Chr1:43396278 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.566del (p.Leu189fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631998] Chr1:42929986 [GRCh38]
Chr1:43395657 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.679+7del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631993] Chr1:42929866 [GRCh38]
Chr1:43395537 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1351A>T (p.Lys451Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632023] Chr1:42927169 [GRCh38]
Chr1:43392840 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.769G>T (p.Val257Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632175] Chr1:42929691 [GRCh38]
Chr1:43395362 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1052T>G (p.Met351Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632149] Chr1:42928954 [GRCh38]
Chr1:43394625 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.1380C>T (p.Phe460=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632784] Chr1:42927140 [GRCh38]
Chr1:43392811 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.734A>C (p.Lys245Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518724] Chr1:42929726 [GRCh38]
Chr1:43395397 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.727G>T (p.Glu243Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518725] Chr1:42929733 [GRCh38]
Chr1:43395404 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.389G>C (p.Gly130Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631925] Chr1:42930753 [GRCh38]
Chr1:43396424 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.679+13C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631673] Chr1:42929860 [GRCh38]
Chr1:43395531 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1390G>A (p.Ala464Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632667] Chr1:42927130 [GRCh38]
Chr1:43392801 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.517-2A>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632051] Chr1:42930037 [GRCh38]
Chr1:43395708 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.469_475del (p.Gly157fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632146] Chr1:42930667..42930673 [GRCh38]
Chr1:43396338..43396344 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1198C>A (p.Arg400Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631584] Chr1:42927685 [GRCh38]
Chr1:43393356 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.115-13T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631550] Chr1:42931219 [GRCh38]
Chr1:43396890 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.972+13T>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632151] Chr1:42929197 [GRCh38]
Chr1:43394868 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.18+8G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632632] Chr1:42958626 [GRCh38]
Chr1:43424297 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.717T>C (p.His239=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632673] Chr1:42929743 [GRCh38]
Chr1:43395414 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.27G>T (p.Thr9=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632865] Chr1:42943313 [GRCh38]
Chr1:43408984 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.180G>C (p.Thr60=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631805] Chr1:42931141 [GRCh38]
Chr1:43396812 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.19-8C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631739] Chr1:42943329 [GRCh38]
Chr1:43409000 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.305T>C (p.Leu102Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631990] Chr1:42930837 [GRCh38]
Chr1:43396508 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.517-19C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632223] Chr1:42930054 [GRCh38]
Chr1:43395725 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.10A>G (p.Ser4Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632401] Chr1:42958642 [GRCh38]
Chr1:43424313 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.969G>A (p.Val323=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632187] Chr1:42929213 [GRCh38]
Chr1:43394884 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.272_273insAAGG (p.Arg93fs) insertion GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632203] Chr1:42931048..42931049 [GRCh38]
Chr1:43396719..43396720 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.300C>T (p.Asn100=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632131] Chr1:42930842 [GRCh38]
Chr1:43396513 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.517-6C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631405] Chr1:42930041 [GRCh38]
Chr1:43395712 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.69C>T (p.Ser23=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631573] Chr1:42943271 [GRCh38]
Chr1:43408942 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.89C>T (p.Thr30Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631666] Chr1:42943251 [GRCh38]
Chr1:43408922 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.679+19C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632314] Chr1:42929854 [GRCh38]
Chr1:43395525 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.432G>A (p.Val144=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518679] Chr1:42930710 [GRCh38]
Chr1:43396381 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.457C>A (p.Arg153Ser) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631695] Chr1:42930685 [GRCh38]
Chr1:43396356 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.867+10C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632459] Chr1:42929583 [GRCh38]
Chr1:43395254 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1279-16T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003518794] Chr1:42927257 [GRCh38]
Chr1:43392928 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.276-10C>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003631344] Chr1:42930876 [GRCh38]
Chr1:43396547 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.995G>A (p.Gly332Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632150] Chr1:42929011 [GRCh38]
Chr1:43394682 [GRCh37]
Chr1:1p34.2		 pathogenic|uncertain significance
NM_006516.4(SLC2A1):c.336C>T (p.Phe112=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003632153] Chr1:42930806 [GRCh38]
Chr1:43396477 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.801C>T (p.Ala267=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003822872] Chr1:42929659 [GRCh38]
Chr1:43395330 [GRCh37]
Chr1:1p34.2		 likely benign
GRCh38/hg38 1p34.2(chr1:42278946-43598390) copy number loss Epilepsy syndrome [RCV003986075] Chr1:42278946..43598390 [GRCh38]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.309C>T (p.Ala103=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV003867027] Chr1:42930833 [GRCh38]
Chr1:43396504 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.19-18_19-17del microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV003870840] Chr1:42943338..42943339 [GRCh38]
Chr1:43409009..43409010 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1279-1G>C single nucleotide variant SLC2A1-related disorder [RCV004554445] Chr1:42927242 [GRCh38]
Chr1:43392913 [GRCh37]
Chr1:1p34.2		 pathogenic|likely pathogenic
NM_006516.4(SLC2A1):c.1000C>T (p.Arg334Trp) single nucleotide variant Childhood onset GLUT1 deficiency syndrome 2 [RCV004555387] Chr1:42929006 [GRCh38]
Chr1:43394677 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.972+1G>T single nucleotide variant SLC2A1-related disorder [RCV004555083] Chr1:42929209 [GRCh38]
Chr1:43394880 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1123T>A (p.Phe375Ile) single nucleotide variant SLC2A1-related disorder [RCV004548998] Chr1:42927760 [GRCh38]
Chr1:43393431 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.19-1G>A single nucleotide variant SLC2A1-related disorder [RCV004550881] Chr1:42943322 [GRCh38]
Chr1:43408993 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.379T>G (p.Phe127Val) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 12 [RCV003990805] Chr1:42930763 [GRCh38]
Chr1:43396434 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1119dup (p.Gly374fs) duplication Inborn genetic diseases [RCV004458974] Chr1:42927763..42927764 [GRCh38]
Chr1:43393434..43393435 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1120G>A (p.Gly374Ser) single nucleotide variant Inborn genetic diseases [RCV004458975] Chr1:42927763 [GRCh38]
Chr1:43393434 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.346G>A (p.Gly116Ser) single nucleotide variant Inborn genetic diseases [RCV004458976] Chr1:42930796 [GRCh38]
Chr1:43396467 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1106T>C (p.Ile369Thr) single nucleotide variant not provided [RCV004573049] Chr1:42927777 [GRCh38]
Chr1:43393448 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.175ACCACGCTC[3] (p.Leu64_Trp65insThrThrLeu) microsatellite not provided [RCV004590939] Chr1:42931128..42931129 [GRCh38]
Chr1:43396799..43396800 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1278+27_1278+28insCTCTCCATTT microsatellite not specified [RCV004598471] Chr1:42927577..42927578 [GRCh38]
Chr1:43393248..43393249 [GRCh37]
Chr1:1p34.2		 benign
NC_000001.10:g.(?_43200757)_(43424429_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV004584083] Chr1:43200757..43424429 [GRCh37]
Chr1:1p34.2		 pathogenic
NC_000001.10:g.(?_42922237)_(43916151_?)del deletion not provided [RCV004579159] Chr1:42922237..43916151 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.18+6881G>A single nucleotide variant not specified [RCV004595472] Chr1:42951753 [GRCh38]
Chr1:43417424 [GRCh37]
Chr1:1p34.2		 benign
NM_006516.4(SLC2A1):c.1278+27_1278+28insCTCGCCATTT microsatellite not specified [RCV004594020] Chr1:42927577..42927578 [GRCh38]
Chr1:43393248..43393249 [GRCh37]
Chr1:1p34.2		 benign
NC_000001.10:g.(?_42922237)_(43424429_?)dup duplication GLUT1 deficiency syndrome 1, autosomal recessive [RCV004584084] Chr1:42922237..43424429 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.376C>G (p.Arg126Gly) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV004790063] Chr1:42930766 [GRCh38]
Chr1:43396437 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.972+5G>A single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV004767603] Chr1:42929205 [GRCh38]
Chr1:43394876 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.364C>G (p.Leu122Val) single nucleotide variant not provided [RCV004770997] Chr1:42930778 [GRCh38]
Chr1:43396449 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.775A>C (p.Ile259Leu) single nucleotide variant not provided [RCV004819105] Chr1:42929685 [GRCh38]
Chr1:43395356 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.116T>G (p.Val39Gly) single nucleotide variant not provided [RCV004724093] Chr1:42931205 [GRCh38]
Chr1:43396876 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1160del (p.Pro387fs) deletion SLC2A1-related disorder [RCV004736741] Chr1:42927723 [GRCh38]
Chr1:43393394 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1114A>T (p.Ile372Phe) single nucleotide variant not provided [RCV004729621] Chr1:42927769 [GRCh38]
Chr1:43393440 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.-5C>T single nucleotide variant not provided [RCV004781180] Chr1:42958656 [GRCh38]
Chr1:43424327 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1121G>A (p.Gly374Asp) single nucleotide variant not provided [RCV004781455] Chr1:42927762 [GRCh38]
Chr1:43393433 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.297G>C (p.Met99Ile) single nucleotide variant not provided [RCV004792903] Chr1:42930845 [GRCh38]
Chr1:43396516 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.940G>C (p.Gly314Arg) single nucleotide variant not provided [RCV004727669] Chr1:42929242 [GRCh38]
Chr1:43394913 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1271A>G (p.Tyr424Cys) single nucleotide variant not provided [RCV004811123] Chr1:42927612 [GRCh38]
Chr1:43393283 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.85A>G (p.Asn29Asp) single nucleotide variant not provided [RCV004701997] Chr1:42943255 [GRCh38]
Chr1:43408926 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.-115G>C single nucleotide variant SLC2A1-related disorder [RCV004737694] Chr1:42958766 [GRCh38]
Chr1:43424437 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.549G>C (p.Lys183Asn) single nucleotide variant not provided [RCV004773890] Chr1:42930003 [GRCh38]
Chr1:43395674 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1132_1133delinsGC (p.Phe378Ala) indel not provided [RCV004769186] Chr1:42927750..42927751 [GRCh38]
Chr1:43393421..43393422 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.784C>G (p.Leu262Val) single nucleotide variant not provided [RCV004776074] Chr1:42929676 [GRCh38]
Chr1:43395347 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1450del (p.His484fs) deletion not provided [RCV004768429] Chr1:42927070 [GRCh38]
Chr1:43392741 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1370G>C (p.Gly457Ala) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005104928]|not provided [RCV004761586] Chr1:42927150 [GRCh38]
Chr1:43392821 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.637T>G (p.Phe213Val) single nucleotide variant SLC2A1-related disorder [RCV004730031] Chr1:42929915 [GRCh38]
Chr1:43395586 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.309_313delinsT (p.Phe104fs) indel Inborn genetic diseases [RCV004971330] Chr1:42930829..42930833 [GRCh38]
Chr1:43396500..43396504 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.140C>A (p.Thr47Lys) single nucleotide variant not provided [RCV005054693] Chr1:42931181 [GRCh38]
Chr1:43396852 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.865G>C (p.Ala289Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005196866] Chr1:42929595 [GRCh38]
Chr1:43395266 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.1005C>A (p.Thr335=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005171358] Chr1:42929001 [GRCh38]
Chr1:43394672 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1075-13T>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005171440] Chr1:42927821 [GRCh38]
Chr1:43393492 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.382A>G (p.Ile128Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005107127] Chr1:42930760 [GRCh38]
Chr1:43396431 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1212T>G (p.Ile404Met) single nucleotide variant not provided [RCV005054834] Chr1:42927671 [GRCh38]
Chr1:43393342 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1290T>C (p.Gly430=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005084920] Chr1:42927230 [GRCh38]
Chr1:43392901 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.408C>T (p.Thr136=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005064086] Chr1:42930734 [GRCh38]
Chr1:43396405 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1075-3C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005086243] Chr1:42927811 [GRCh38]
Chr1:43393482 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.18+9C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005060823] Chr1:42958625 [GRCh38]
Chr1:43424296 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.888C>T (p.Ser296=) single nucleotide variant not specified [RCV005087632] Chr1:42929294 [GRCh38]
Chr1:43394965 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1407G>T (p.Gln469His) single nucleotide variant Hereditary cryohydrocytosis with reduced stomatin [RCV005015946] Chr1:42927113 [GRCh38]
Chr1:43392784 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.*11A>G single nucleotide variant not specified [RCV005237226] Chr1:42927030 [GRCh38]
Chr1:43392701 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.658GAG[1] (p.Glu221del) microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV005176740] Chr1:42929889..42929891 [GRCh38]
Chr1:43395560..43395562 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.454C>T (p.Leu152Phe) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005155890] Chr1:42930688 [GRCh38]
Chr1:43396359 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.115-17T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005129721] Chr1:42931223 [GRCh38]
Chr1:43396894 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.580_585del (p.Phe194_Ile195del) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV005135797] Chr1:42929967..42929972 [GRCh38]
Chr1:43395638..43395643 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.867+19C>T single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005109532] Chr1:42929574 [GRCh38]
Chr1:43395245 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1074+19G>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005206677] Chr1:42928913 [GRCh38]
Chr1:43394584 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.792C>T (p.Arg264=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005192174] Chr1:42929668 [GRCh38]
Chr1:43395339 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.239C>G (p.Ser80Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113613] Chr1:42931082 [GRCh38]
Chr1:43396753 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.514C>T (p.Gln172Ter) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005125395] Chr1:42930628 [GRCh38]
Chr1:43396299 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.905G>A (p.Gly302Glu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005168063] Chr1:42929277 [GRCh38]
Chr1:43394948 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.106C>T (p.Pro36Ser) single nucleotide variant not provided [RCV005233667] Chr1:42943234 [GRCh38]
Chr1:43408905 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1074+12G>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005206692] Chr1:42928920 [GRCh38]
Chr1:43394591 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.183C>T (p.Leu61=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005144294] Chr1:42931138 [GRCh38]
Chr1:43396809 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.482A>T (p.Gln161Leu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113610] Chr1:42930660 [GRCh38]
Chr1:43396331 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.110A>C (p.Gln37Pro) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113616] Chr1:42943230 [GRCh38]
Chr1:43408901 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.840G>A (p.Leu280=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005192757] Chr1:42929620 [GRCh38]
Chr1:43395291 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.275+6T>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005179118] Chr1:42931040 [GRCh38]
Chr1:43396711 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.509T>C (p.Ile170Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005183576] Chr1:42930633 [GRCh38]
Chr1:43396304 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.363G>A (p.Met121Ile) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005198001] Chr1:42930779 [GRCh38]
Chr1:43396450 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.778C>G (p.Leu260Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005183951] Chr1:42929682 [GRCh38]
Chr1:43395353 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.405G>A (p.Leu135=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005194041] Chr1:42930737 [GRCh38]
Chr1:43396408 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1020C>A (p.Gly340=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005158046] Chr1:42928986 [GRCh38]
Chr1:43394657 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.19-12_19-9del microsatellite GLUT1 deficiency syndrome 1, autosomal recessive [RCV005189866] Chr1:42943330..42943333 [GRCh38]
Chr1:43409001..43409004 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1281del (p.Gln427fs) deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV005130463] Chr1:42927239 [GRCh38]
Chr1:43392910 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.114+13C>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005120928] Chr1:42943213 [GRCh38]
Chr1:43408884 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1040G>A (p.Cys347Tyr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113605] Chr1:42928966 [GRCh38]
Chr1:43394637 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.877T>G (p.Tyr293Asp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113606] Chr1:42929305 [GRCh38]
Chr1:43394976 [GRCh37]
Chr1:1p34.2		 likely pathogenic
NM_006516.4(SLC2A1):c.551A>G (p.Asp184Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113609] Chr1:42930001 [GRCh38]
Chr1:43395672 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.989G>A (p.Arg330Gln) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005084128]|not provided [RCV005251428] Chr1:42929017 [GRCh38]
Chr1:43394688 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.680-10G>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005162353] Chr1:42929790 [GRCh38]
Chr1:43395461 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.211A>G (p.Ile71Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005176707] Chr1:42931110 [GRCh38]
Chr1:43396781 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.114+14C>A single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005182400] Chr1:42943212 [GRCh38]
Chr1:43408883 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.856G>T (p.Gly286Cys) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113607] Chr1:42929604 [GRCh38]
Chr1:43395275 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.662A>G (p.Glu221Gly) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113608] Chr1:42929890 [GRCh38]
Chr1:43395561 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1279-13G>C single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005154012] Chr1:42927254 [GRCh38]
Chr1:43392925 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.452C>T (p.Ala151Val) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113612]|not provided [RCV005416787] Chr1:42930690 [GRCh38]
Chr1:43396361 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.75G>C (p.Gln25His) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113617] Chr1:42943265 [GRCh38]
Chr1:43408936 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.53G>A (p.Gly18Glu) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113618] Chr1:42943287 [GRCh38]
Chr1:43408958 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.460G>T (p.Gly154Trp) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113611] Chr1:42930682 [GRCh38]
Chr1:43396353 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.235G>C (p.Gly79Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113614] Chr1:42931086 [GRCh38]
Chr1:43396757 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.15C>G (p.Ser5Arg) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005113619] Chr1:42958637 [GRCh38]
Chr1:43424308 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.517-2A>G single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005197999] Chr1:42930037 [GRCh38]
Chr1:43395708 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.687G>A (p.Lys229=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005185354] Chr1:42929773 [GRCh38]
Chr1:43395444 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.549G>A (p.Lys183=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005202814] Chr1:42930003 [GRCh38]
Chr1:43395674 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.30T>A (p.Gly10=) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005129078] Chr1:42943310 [GRCh38]
Chr1:43408981 [GRCh37]
Chr1:1p34.2		 likely benign
NM_006516.4(SLC2A1):c.1211T>C (p.Ile404Thr) single nucleotide variant GLUT1 deficiency syndrome 1, autosomal recessive [RCV005184436] Chr1:42927672 [GRCh38]
Chr1:43393343 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.602G>T (p.Cys201Phe) single nucleotide variant Inborn genetic diseases [RCV005284392] Chr1:42929950 [GRCh38]
Chr1:43395621 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.1078C>T (p.Gln360Ter) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV005255954] Chr1:42927805 [GRCh38]
Chr1:43393476 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.532T>A (p.Ser178Thr) single nucleotide variant not provided [RCV005426747] Chr1:42930020 [GRCh38]
Chr1:43395691 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.304C>G (p.Leu102Val) single nucleotide variant Encephalopathy due to GLUT1 deficiency [RCV005403802] Chr1:42930838 [GRCh38]
Chr1:43396509 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.968_972del (p.Val323fs) microsatellite GLUT1 deficiency syndrome [RCV005430099] Chr1:42929210..42929214 [GRCh38]
Chr1:43394881..43394885 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.979G>T (p.Val327Leu) single nucleotide variant not provided [RCV005429842] Chr1:42929027 [GRCh38]
Chr1:43394698 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.395_396del (p.Tyr132fs) deletion Encephalopathy due to GLUT1 deficiency [RCV005408404] Chr1:42930746..42930747 [GRCh38]
Chr1:43396417..43396418 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1069C>G (p.Leu357Val) single nucleotide variant not provided [RCV005411811] Chr1:42928937 [GRCh38]
Chr1:43394608 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.680-2A>G single nucleotide variant not provided [RCV005414783] Chr1:42929782 [GRCh38]
Chr1:43395453 [GRCh37]
Chr1:1p34.2		 pathogenic
NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn) single nucleotide variant Dystonia 9 [RCV003338231]|GLUT1 deficiency syndrome 1, autosomal recessive [RCV005103974] Chr1:42927183 [GRCh38]
Chr1:43392854 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_006516.4(SLC2A1):c.964del (p.Val322fs) deletion Encephalopathy due to GLUT1 deficiency [RCV003340746] Chr1:42929218 [GRCh38]
Chr1:43394889 [GRCh37]
Chr1:1p34.2		 likely pathogenic
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1262hsa-miR-1262Mirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1884
Count of miRNA genes:932
Interacting mature miRNAs:1116
Transcripts:ENST00000372500, ENST00000415851, ENST00000426263, ENST00000439722, ENST00000460369, ENST00000475162
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596978006GWAS1097525_HRed cell distribution width QTL GWAS1097525 (human)5e-44Red cell distribution width14295084342950844Human
406996673GWAS645649_Hmean corpuscular hemoglobin concentration QTL GWAS645649 (human)3e-26erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)14295448342954484Human
597104466GWAS1200540_Hneutrophil count QTL GWAS1200540 (human)8e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)14295838042958381Human
597615127GWAS1671987_HRed cell distribution width QTL GWAS1671987 (human)1e-17erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)14294967542949676Human
597043676GWAS1139750_Herythrocyte count QTL GWAS1139750 (human)6e-09erythrocyte countred blood cell count (CMO:0000025)14294260842942609Human
597346961GWAS1443035_Hhemoglobin measurement QTL GWAS1443035 (human)2e-19blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)14295147942951480Human
597615120GWAS1671980_HRed cell distribution width QTL GWAS1671980 (human)2e-17erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)14294967542949676Human
597099033GWAS1195107_Hmonocyte count QTL GWAS1195107 (human)1e-28monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)14295403442954035Human
597080070GWAS1176144_HRed cell distribution width QTL GWAS1176144 (human)2e-45erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)14295084342950844Human
596953796GWAS1073315_HRed cell distribution width QTL GWAS1073315 (human)2e-45Red cell distribution width14295084342950844Human
597612427GWAS1669287_HRed cell distribution width QTL GWAS1669287 (human)6e-14erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)14294967542949676Human
597244803GWAS1340877_Hplasminogen activator inhibitor 1 measurement QTL GWAS1340877 (human)7e-11blood plasminogen activator inhibitor 1 amount (VT:0010926)blood plasminogen activator inhibitor 1 level (CMO:0003034)14294260842942609Human
596950287GWAS1069806_HRed cell distribution width QTL GWAS1069806 (human)6e-49Red cell distribution width14295084342950844Human
597081800GWAS1177874_Hneutrophil count QTL GWAS1177874 (human)1e-19neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)14294754142947542Human
406971043GWAS620019_Hmonocyte count QTL GWAS620019 (human)1e-10monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)14295628542956286Human
597089076GWAS1185150_Hmean reticulocyte volume QTL GWAS1185150 (human)2e-15reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)14295795142957952Human
407385195GWAS1034171_Hobsolete_red blood cell distribution width QTL GWAS1034171 (human)6e-49obsolete_red blood cell distribution width14295084342950844Human
597080629GWAS1176703_HRed cell distribution width QTL GWAS1176703 (human)6e-49erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)14295084342950844Human
407079782GWAS728758_Hobsolete_red blood cell distribution width QTL GWAS728758 (human)5e-44obsolete_red blood cell distribution width14295084342950844Human
597110129GWAS1206203_Herythrocyte count QTL GWAS1206203 (human)2e-09erythrocyte countred blood cell count (CMO:0000025)14294869842948699Human
597080433GWAS1176507_Hmonocyte count QTL GWAS1176507 (human)3e-20monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)14295838042958381Human
407004846GWAS653822_Hneutrophil count QTL GWAS653822 (human)3e-19neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)14295826142958262Human
406987436GWAS636412_Hmean corpuscular hemoglobin concentration QTL GWAS636412 (human)6e-25erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin concentration (CMO:0000291)14295448342954484Human
407384891GWAS1033867_Hobsolete_red blood cell distribution width QTL GWAS1033867 (human)2e-45obsolete_red blood cell distribution width14295084342950844Human
597113633GWAS1209707_HRed cell distribution width QTL GWAS1209707 (human)5e-44erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)14295084342950844Human
597302179GWAS1398253_Hneutrophil count QTL GWAS1398253 (human)3e-16neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)14295826142958262Human
597085932GWAS1182006_Hlymphocyte percentage of leukocytes QTL GWAS1182006 (human)9e-17lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)14294374942943750Human
597302432GWAS1398506_Hmonocyte count QTL GWAS1398506 (human)5e-16monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)14294837542948376Human
597252453GWAS1348527_Hcalcium measurement QTL GWAS1348527 (human)2e-11calcium amount (VT:0010499)blood calcium level (CMO:0000502)14293272542932726Human
597081385GWAS1177459_Hmonocyte count QTL GWAS1177459 (human)3e-28monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)14295403442954035Human
597101352GWAS1197426_Hneutrophil percentage of leukocytes QTL GWAS1197426 (human)4e-11neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)14295628542956286Human

Markers in Region
RH11019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,392,570 - 43,392,719UniSTSGRCh37
Build 36143,165,157 - 43,165,306RGDNCBI36
Celera141,674,657 - 41,674,806RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,512,524 - 41,512,673UniSTS
GeneMap99-GB4 RH Map1127.56UniSTS
NCBI RH Map1294.0UniSTS
RH68258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,392,010 - 43,392,152UniSTSGRCh37
Build 36143,164,597 - 43,164,739RGDNCBI36
Celera141,674,097 - 41,674,239RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,511,964 - 41,512,106UniSTS
TNG Radiation Hybrid Map121073.0UniSTS
GeneMap99-GB4 RH Map1133.43UniSTS
RH91471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,391,965 - 43,392,142UniSTSGRCh37
Build 36143,164,552 - 43,164,729RGDNCBI36
Celera141,674,052 - 41,674,229RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,511,919 - 41,512,096UniSTS
GeneMap99-GB4 RH Map1127.56UniSTS
RH101947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,417,453 - 43,417,574UniSTSGRCh37
Build 36143,190,040 - 43,190,161RGDNCBI36
Celera141,699,546 - 41,699,667RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,537,404 - 41,537,525UniSTS
GeneMap99-GB4 RH Map1132.49UniSTS
SHGC-2652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,391,854 - 43,392,013UniSTSGRCh37
Build 36143,164,441 - 43,164,600RGDNCBI36
Celera141,673,941 - 41,674,100RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,511,808 - 41,511,967UniSTS
GeneMap99-G3 RH Map12356.0UniSTS
SLC2A1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,396,297 - 43,396,529UniSTSGRCh37
Build 36143,168,884 - 43,169,116RGDNCBI36
Celera141,678,394 - 41,678,626RGD
HuRef141,516,261 - 41,516,493UniSTS
SLC2A1_1316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,391,401 - 43,392,174UniSTSGRCh37
Build 36143,163,988 - 43,164,761RGDNCBI36
Celera141,673,488 - 41,674,261RGD
HuRef141,511,355 - 41,512,128UniSTS
G09541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,415,296 - 43,415,406UniSTSGRCh37
Build 36143,187,883 - 43,187,993RGDNCBI36
Celera141,697,389 - 41,697,499RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,535,247 - 41,535,357UniSTS
SHGC-74680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,391,538 - 43,391,666UniSTSGRCh37
Build 36143,164,125 - 43,164,253RGDNCBI36
Celera141,673,625 - 41,673,753RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,511,492 - 41,511,620UniSTS
TNG Radiation Hybrid Map121073.0UniSTS
GeneMap99-GB4 RH Map1127.56UniSTS
NCBI RH Map1294.0UniSTS
RH68980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,391,719 - 43,391,986UniSTSGRCh37
Build 36143,164,306 - 43,164,573RGDNCBI36
Celera141,673,806 - 41,674,073RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,511,673 - 41,511,940UniSTS
GeneMap99-GB4 RH Map1127.56UniSTS
NCBI RH Map1294.0UniSTS
WI-15743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,392,481 - 43,392,630UniSTSGRCh37
Build 36143,165,068 - 43,165,217RGDNCBI36
Celera141,674,568 - 41,674,717RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,512,435 - 41,512,584UniSTS
GeneMap99-GB4 RH Map1127.56UniSTS
Whitehead-RH Map1144.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2247 4955 1723 2345 5 622 1947 464 2268 7284 6457 52 3720 849 1738 1612 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW137914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY034633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC118590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG682043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI490999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP314853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ948542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ918450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA753077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW883607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW883608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000372500   ⟹   ENSP00000361578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,930,698 - 42,958,836 (-)Ensembl
Ensembl Acc Id: ENST00000415851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,930,960 - 42,958,868 (-)Ensembl
Ensembl Acc Id: ENST00000426263   ⟹   ENSP00000416293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,925,353 - 42,958,868 (-)Ensembl
Ensembl Acc Id: ENST00000460369   ⟹   ENSP00000491942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,951,616 - 42,958,859 (-)Ensembl
Ensembl Acc Id: ENST00000475162   ⟹   ENSP00000487213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,926,796 - 42,943,238 (-)Ensembl
Ensembl Acc Id: ENST00000625233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,930,319 - 42,958,859 (-)Ensembl
Ensembl Acc Id: ENST00000629908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,951,616 - 42,952,016 (-)Ensembl
Ensembl Acc Id: ENST00000630287   ⟹   ENSP00000486694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,926,156 - 42,958,848 (-)Ensembl
Ensembl Acc Id: ENST00000630821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,942,966 - 42,958,868 (-)Ensembl
Ensembl Acc Id: ENST00000669445   ⟹   ENSP00000499253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,929,640 - 42,929,928 (-)Ensembl
Ensembl Acc Id: ENST00000674545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,926,249 - 42,929,499 (-)Ensembl
Ensembl Acc Id: ENST00000674765   ⟹   ENSP00000501811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,926,244 - 42,958,859 (-)Ensembl
Ensembl Acc Id: ENST00000675112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,926,169 - 42,958,674 (-)Ensembl
Ensembl Acc Id: ENST00000676097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,954,344 - 42,958,893 (-)Ensembl
Ensembl Acc Id: ENST00000676254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,926,174 - 42,931,769 (-)Ensembl
RefSeq Acc Id: NM_006516   ⟹   NP_006507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38142,925,353 - 42,958,868 (-)NCBI
GRCh37143,391,046 - 43,424,847 (-)ENTREZGENE
Build 36143,164,102 - 43,197,088 (-)NCBI Archive
HuRef141,511,000 - 41,544,561 (-)ENTREZGENE
CHM1_1143,507,796 - 43,541,586 (-)NCBI
T2T-CHM13v2.0142,795,821 - 42,829,338 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006507   ⟸   NM_006516
- UniProtKB: Q0P512 (UniProtKB/Swiss-Prot),   O75535 (UniProtKB/Swiss-Prot),   D3DPX0 (UniProtKB/Swiss-Prot),   B2R620 (UniProtKB/Swiss-Prot),   A8K9S6 (UniProtKB/Swiss-Prot),   Q147X2 (UniProtKB/Swiss-Prot),   P11166 (UniProtKB/Swiss-Prot),   Q59GX2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000361578   ⟸   ENST00000372500
Ensembl Acc Id: ENSP00000416293   ⟸   ENST00000426263
Ensembl Acc Id: ENSP00000499253   ⟸   ENST00000669445
Ensembl Acc Id: ENSP00000486694   ⟸   ENST00000630287
Ensembl Acc Id: ENSP00000491942   ⟸   ENST00000460369
Ensembl Acc Id: ENSP00000487213   ⟸   ENST00000475162
Ensembl Acc Id: ENSP00000501811   ⟸   ENST00000674765
Protein Domains
Major facilitator superfamily (MFS) profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11166-F1-model_v2 AlphaFold P11166 1-492 view protein structure

Promoters
RGD ID:6855294
Promoter ID:EPDNEW_H770
Type:initiation region
Name:SLC2A1_1
Description:solute carrier family 2 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38142,958,868 - 42,958,928EPDNEW
RGD ID:6786869
Promoter ID:HG_KWN:2323
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000020362,   OTTHUMT00000020686
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,169,171 - 43,170,452 (-)MPROMDB
RGD ID:6786871
Promoter ID:HG_KWN:2324
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000397019
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,190,206 - 43,191,072 (-)MPROMDB
RGD ID:6785186
Promoter ID:HG_KWN:2325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372500,   NM_006516,   OTTHUMT00000020359,   OTTHUMT00000020361
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,196,904 - 43,197,404 (-)MPROMDB
RGD ID:6851262
Promoter ID:EP73429
Type:multiple initiation site
Name:HS_SLC2A1
Description:Solute carrier family 2 (facilitated glucose transporter), member1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,197,126 - 43,197,186EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11005 AgrOrtholog
COSMIC SLC2A1 COSMIC
Ensembl Genes ENSG00000117394 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000426263 ENTREZGENE
  ENST00000426263.10 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
GTEx ENSG00000117394 GTEx
HGNC ID HGNC:11005 ENTREZGENE
Human Proteome Map SLC2A1 Human Proteome Map
InterPro Glu_transpt_1 UniProtKB/Swiss-Prot
  GLUT UniProtKB/Swiss-Prot
  MFS_dom UniProtKB/Swiss-Prot
  MFS_sugar_transport-like UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
  Sugar/inositol_transpt UniProtKB/Swiss-Prot
  Sugar_transporter_CS UniProtKB/Swiss-Prot
KEGG Report hsa:6513 UniProtKB/Swiss-Prot
NCBI Gene 6513 ENTREZGENE
OMIM 138140 OMIM
PANTHER PTHR23503 UniProtKB/Swiss-Prot
  SOLUTE CARRIER FAMILY 2, FACILITATED GLUCOSE TRANSPORTER MEMBER 1 UniProtKB/Swiss-Prot
Pfam Sugar_tr UniProtKB/Swiss-Prot
PharmGKB PA35875 PharmGKB, RGD
PRINTS GLUCTRSPORT1 UniProtKB/Swiss-Prot
  SUGRTRNSPORT UniProtKB/Swiss-Prot
PROSITE MFS UniProtKB/Swiss-Prot
  SUGAR_TRANSPORT_1 UniProtKB/Swiss-Prot
  SUGAR_TRANSPORT_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt A0A0D9SFK9_HUMAN UniProtKB/TrEMBL
  A0A0D9SG74_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ59_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFI8_HUMAN UniProtKB/TrEMBL
  A0A8B0RIZ3_HUMAN UniProtKB/TrEMBL
  A0A8B0RJV8_HUMAN UniProtKB/TrEMBL
  A6NL68_HUMAN UniProtKB/TrEMBL
  A8K9S6 ENTREZGENE
  B2R620 ENTREZGENE
  D3DPX0 ENTREZGENE
  GTR1_HUMAN UniProtKB/Swiss-Prot
  O75535 ENTREZGENE
  P11166 ENTREZGENE
  Q0P512 ENTREZGENE
  Q147X2 ENTREZGENE
  Q59GX2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K9S6 UniProtKB/Swiss-Prot
  B2R620 UniProtKB/Swiss-Prot
  D3DPX0 UniProtKB/Swiss-Prot
  O75535 UniProtKB/Swiss-Prot
  Q0P512 UniProtKB/Swiss-Prot
  Q147X2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-23 SLC2A1  solute carrier family 2 member 1  CSE  choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)  Data merged from RGD:1353910 737654 PROVISIONAL
2016-04-05 SLC2A1  solute carrier family 2 member 1  HTLVR  human T-cell leukemia virus (I and II) receptor  Data merged from RGD:1345515 737654 PROVISIONAL
2016-02-23 SLC2A1  solute carrier family 2 member 1  SLC2A1  solute carrier family 2 (facilitated glucose transporter), member 1  Symbol and/or name change 5135510 APPROVED