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*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Carbohydrate Metabolism, Inborn Errors (D002239)
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Glut1 Deficiency Syndrome (C536830)

       Child Nodes:



 Sister Nodes: 
..expandChondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome (C565852)
..expandCongenital Disorders of Glycosylation (D018981) Child31
..expandD-glycericacidemia (C535767)
..expandFructose and Galactose Intolerance (C565558)
..expandFructose Metabolism, Inborn Errors (D015318) Child4
..expandFucosidosis (D005645)
..expandGalactosemias (D005693)
..expandGlucose-Galactose Malabsorption (C562602)
..expandGlucosephosphate Dehydrogenase Deficiency (D005955) Child3
..expandGlut1 Deficiency Syndrome (C536830)
..expandGLYCEROL KINASE DEFICIENCY (OMIM:307030)
..expandGlycogen Storage Disease (D006008) Child42
..expandHyperoxaluria, Primary (D006960) Child3
..expandHyperproglucagonemia (C564159)
..expandLactase Deficiency, Congenital (C562600)
..expandLactate Dehydrogenase Deficiency (C580233)
..expandLactose Intolerance (D007787) Child1
..expandMannosidase Deficiency Diseases (D044904) Child6
..expandMucolipidoses (D009081) Child11
..expandMucopolysaccharidoses (D009083) Child10
..expandMultiple Carboxylase Deficiency (D009100) Child4
..expandMyopathy with Storage of Glycoproteins and Glycosaminoglycans (C563542)
..expandPentosuria (C536652)
..expandPhosphoenolpyruvate carboxykinase deficiency (C536654)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPolysaccharide, Storage of Unusual (C564877)
..expandPyruvate Metabolism, Inborn Errors (D015323) Child20  LSDB C:9
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSucrase-isomaltase deficiency, congenital (C538139)
..expandTransaldolase Deficiency (C563207)
..expandTrehalase Deficiency (C562603)
..expandTriosephosphate Isomerase Deficiency (C566029)
..expandXylosidase Deficiency (C564730)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5145
Name:Glut1 Deficiency Syndrome
Definition:
Alternative IDs:OMIM:606777
ParentIDs:MESH:D002239
TreeNumbers:C16.320.565.202/C536830 |C18.452.648.202/C536830
Synonyms:De Vivo disease |Encephalopathy Due To Glut1 Deficiency |Glucose transport defect, blood-brain barrier |GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED |Glucose Transporter Protein Syndrome |Glucose Tr
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C536830
MeSH: C536830
OMIM: 606777;
MSeqDR LSDB:  
Genes: SLC2A1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritanceHP:0040283
3 HP:0003593Infantile onset
4 HP:0001939Abnormality of metabolism/homeostasis
5 HP:0001251Ataxia
6 HP:0003487Babinski sign
7 HP:0001266Choreoathetosis
8 HP:0001289Confusion
9 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
10 HP:0001260Dysarthria
NAMDC:  Dysarthria
11 HP:0002353EEG abnormality
12 HP:0001263Global developmental delay
NAMDC:  Mental retardation
13 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
14 HP:0001269Hemiparesis
15 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
16 HP:0011972Hypoglycorrhachia
17 HP:0001249Intellectual disability
18 HP:0001336Myoclonus
NAMDC:  Myoclonus
19 HP:0003470Paralysis
20 HP:0002268Paroxysmal dystonia
21 HP:0007704Paroxysmal involuntary eye movements
22 HP:0011973Paroxysmal lethargy
23 HP:0003812Phenotypic variability
24 HP:0005484Postnatal microcephaly
25 HP:0001250Seizures
NAMDC:  Seizures
HP:0040282
26 HP:0001250Seizures
NAMDC:  Seizures
27 HP:0002360Sleep disturbance
28 HP:0001257Spasticity
NAMDC:  Spasticity
29 HP:0001328Specific learning disability
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000001.11:g.(?_42925375)_(42959176_?)del6513SLC2A1Pathogenic-1RCV000017485; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339104643424847nanaOMIM:138140.0001CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.*1611T>C6513SLC2A1Uncertain significancers1057515457RCV000273327|RCV000363226; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339110143391101AGNC_000001.10:g.43391101A>GClinGen:CA10610243C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1588G>A6513SLC2A1Benignrs189700252RCV000328301|RCV000387484; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339112443391124CTNC_000001.10:g.43391124C>TClinGen:CA10610244C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1587A>G6513SLC2A1Benignrs140560514RCV000276916|RCV000331951; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339112543391125TCNC_000001.10:g.43391125T>CClinGen:CA10610245C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1564C>T6513SLC2A1Uncertain significancers1057515570RCV000278170|RCV000372693; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339114843391148GANC_000001.10:g.43391148G>AClinGen:CA10611215C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1337A>C6513SLC2A1Uncertain significancers113441673RCV000283656|RCV000340946; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339137543391375TGNC_000001.10:g.43391375T>GClinGen:CA10609948C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1337A>G6513SLC2A1Uncertain significancers113441673RCV000337942|RCV000373944; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339137543391375TCNC_000001.10:g.43391375T>CClinGen:CA10610250C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1321T>A6513SLC2A1Uncertain significancers1222650517RCV001096212|RCV001096213; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339139143391391AT1:g.43391391A>T-
NM_006516.4(SLC2A1):c.*1281A>G6513SLC2A1Uncertain significancers1057515458RCV000305919|RCV000399405; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339143143391431TCNC_000001.10:g.43391431T>CClinGen:CA10611217C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1246G>A6513SLC2A1Uncertain significancers886046330RCV000344322|RCV000401453; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339146643391466CTNC_000001.10:g.43391466C>TClinGen:CA10611218C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1213G>T6513SLC2A1Benignrs55728431RCV000309197|RCV000366177; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339149943391499CANC_000001.10:g.43391499C>AClinGen:CA10609957C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1205C>T6513SLC2A1Uncertain significancers886046331RCV000274025|RCV000312779; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339150743391507GANC_000001.10:g.43391507G>AClinGen:CA10609963C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1149C>A6513SLC2A1Uncertain significancers779668330RCV000277274|RCV000369567; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339156343391563GTNC_000001.10:g.43391563G>TClinGen:CA10611219C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1147G>C6513SLC2A1Uncertain significancers886046332RCV000315936|RCV000372848; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339156543391565CGNC_000001.10:g.43391565C>GClinGen:CA10610251C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1081T>A6513SLC2A1Uncertain significancers886046333RCV000262101|RCV000319608; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339163143391631ATNC_000001.10:g.43391631A>TClinGen:CA10611222C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*1079T>G6513SLC2A1Uncertain significancers1426402573RCV001099755|RCV001099756; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339163343391633AC1:g.43391633A>C-
NM_006516.4(SLC2A1):c.*1016A>G6513SLC2A1Uncertain significancers886046334RCV000284437|RCV000376484; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339169643391696TCNC_000001.10:g.43391696T>CClinGen:CA10611223C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*971G>A6513SLC2A1Benignrs185891628RCV000341305|RCV000379551; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339174143391741CTNC_000001.10:g.43391741C>TClinGen:CA10610254C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*784A>G6513SLC2A1Uncertain significancers886046335RCV000287535|RCV000344883; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339192843391928TCNC_000001.10:g.43391928T>CClinGen:CA10611224C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*775A>G6513SLC2A1Uncertain significancers779010320RCV001101735|RCV001101736; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339193743391937TC1:g.43391937T>C-
NM_006516.4(SLC2A1):c.*750T>A6513SLC2A1Uncertain significancers886046336RCV000310110|RCV000401788; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339196243391962ATNC_000001.10:g.43391962A>TClinGen:CA10611051C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*651G>T6513SLC2A1Uncertain significancers886046337RCV000348582|RCV000398717; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339206143392061CANC_000001.10:g.43392061C>AClinGen:CA10611057C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*626G>A6513SLC2A1Benignrs6413525RCV000315213|RCV000353738; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339208643392086CTNC_000001.10:g.43392086C>TClinGen:CA10610255C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*609G>C6513SLC2A1Uncertain significancers1020397288RCV001096321|RCV001096322; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339210343392103CG1:g.43392103C>G-
NM_006516.4(SLC2A1):c.*597G>A6513SLC2A1Uncertain significancers886046338RCV000261232|RCV000300008; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339211543392115CTNC_000001.10:g.43392115C>TClinGen:CA10611232C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*587A>T6513SLC2A1Uncertain significancers748209315RCV000264585|RCV000356997; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339212543392125TANC_000001.10:g.43392125T>AClinGen:CA10610263C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*571C>T6513SLC2A1Benignrs6413524RCV000322089|RCV000360508; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339214143392141GANC_000001.10:g.43392141G>AClinGen:CA10610264C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*560T>C6513SLC2A1Uncertain significancers545613558RCV000268465|RCV000325854; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339215243392152AGNC_000001.10:g.43392152A>GClinGen:CA10611068C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*514G>T6513SLC2A1Uncertain significancers886046339RCV000290709|RCV000382742; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339219843392198CANC_000001.10:g.43392198C>AClinGen:CA10609964C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*463T>C6513SLC2A1Benignrs186437621RCV001099842|RCV001099843; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339224943392249AG1:g.43392249A>G-
NM_006516.4(SLC2A1):c.*462G>C6513SLC2A1Benignrs4658RCV000329519|RCV000386431; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339225043392250CG1:g.43392250C>GClinGen:CA10611079C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*413G>A6513SLC2A1Uncertain significancers543194486RCV001099845|RCV001099844; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339229943392299CT1:g.43392299C>T-
NM_006516.4(SLC2A1):c.*368A>C6513SLC2A1Uncertain significancers946103123RCV001099846|RCV001099847; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339234443392344TG1:g.43392344T>G-
NM_006516.4(SLC2A1):c.*346G>A6513SLC2A1Benignrs190760291RCV000294471|RCV000351680; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339236643392366CT1:g.43392366C>TClinGen:CA803265C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*285C>T6513SLC2A1Benignrs144947295RCV001101833|RCV001101832; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339242743392427GA1:g.43392427G>A-
NM_006516.4(SLC2A1):c.*216C>T6513SLC2A1Uncertain significancers1643431578RCV001101834|RCV001101835; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339249643392496GA1:g.43392496G>A-
NM_006516.4(SLC2A1):c.*107G>A6513SLC2A1Uncertain significancers1643432524RCV001101836|RCV001101837; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339260543392605CT1:g.43392605C>T-
NM_006516.4(SLC2A1):c.*92G>A6513SLC2A1Uncertain significancers1266657991RCV001096410|RCV001096411; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339262043392620CT1:g.43392620C>T-
NM_006516.4(SLC2A1):c.*60C>T6513SLC2A1Benignrs2229684RCV000335525|RCV000402139; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339265243392652GA1:g.43392652G>AClinGen:CA10610265C0393593 Dystonia;
NM_006516.4(SLC2A1):c.*22G>A6513SLC2A1Benign/Likely benignrs2229683RCV000301352|RCV000358447|RCV001566798; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN51720214339269043392690CT1:g.43392690C>TClinGen:CA803272C0393593 Dystonia;
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)6513SLC2A1Benign/Likely benignrs146879902RCV000186664|RCV000304832|RCV000398338|RCV000761652|RCV001085385; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN517202|MedGen:C314911714339275443392754GA1:g.43392754G>AClinGen:CA019077C0393593 Dystonia;
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)6513SLC2A1Pathogenic/Likely pathogenicrs13306758RCV000082868|RCV000423069|RCV000762930|RCV000701550; NMONDO:MONDO:0013919,MedGen:C3553859,OMIM:614847|MedGen:CN517202|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583; MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:0013919,MedGen:C3553859,OMIM:614847; MONDO:MONDO:00114339281943392819GA1:g.43392819G>AClinGen:CA019067,UniProtKB:P11166#VAR_076236,OMIM:138140.0021C3553859 614847 Epilepsy, idiopathic generalized, susceptibility to, 12;
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)6513SLC2A1Benignrs13306758RCV000128117|RCV000269416|RCV000361745|RCV000554998|RCV000716362; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C3149117|MedGen:C271175414339281943392819GTNC_000001.10:g.43392819G>TClinGen:CA019061
NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter)6513SLC2A1Pathogenicrs80359829RCV000017486; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339282543392825TA1:g.43392825T>AClinGen:CA019055,OMIM:138140.0002CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs)6513SLC2A1Pathogenic-1RCV001786326; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339284043392841TTGT43392839-
NM_006516.4(SLC2A1):c.1347C>A (p.Tyr449Ter)6513SLC2A1Pathogenicrs80359828RCV000017487; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339284443392844GT1:g.43392844G>TClinGen:CA019048,OMIM:138140.0003CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT6513SLC2A1Benign-1RCV001807798|RCV001807799|RCV001807796|RCV001807797; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:168577|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:9881114339324443393245CCGAAATGGTGA43393244-
NM_006516.4(SLC2A1):c.1278+9C>G6513SLC2A1Benign/Likely benignrs550156548RCV000326902|RCV000365217|RCV000431404|RCV000945483|RCV001411273; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN169374|MedGen:CN517202|MedGen:C314911714339326743393267GC1:g.43393267G>CClinGen:CA803321C0393593 Dystonia;
NM_006516.4(SLC2A1):c.1261T>C (p.Cys421Arg)6513SLC2A1Pathogenicrs1557644984RCV000684767; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339329343393293AG1:g.43393293A>G-CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly)6513SLC2A1Likely pathogenicrs1570590859RCV000995643; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339332043393320AC1:g.43393320A>C-
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer)6513SLC2A1Likely pathogenicrs1570590905RCV000995644; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339335443393355AACTC1:g.43393354_43393355insCTC-
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)6513SLC2A1Pathogenicrs776095655RCV000364606|RCV000678305|RCV000694332; NMedGen:CN517202|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C314911714339335543393355CT1:g.43393355C>TClinGen:CA10602778CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)6513SLC2A1Benignrs2236574RCV000128115|RCV000272786|RCV000330222|RCV000540255|RCV000716356; NMedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C3149117|MedGen:C271175414339338443393384GANC_000001.10:g.43393384G>AClinGen:CA019019
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer)6513SLC2A1Pathogenicrs587784391RCV000147519; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339346543393465TCT1:g.43393465_43393465delClinGen:CA019008CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)6513SLC2A1Benignrs2228490RCV000081427|RCV000295237|RCV000387126|RCV000470662|RCV000715619|RCV001537248; NMedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C3149117|MedGen:C2711754|MedGen:CN51720214339461243394612TCNC_000001.10:g.43394612T>CClinGen:CA019003
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)6513SLC2A1Conflicting interpretations of pathogenicityrs748983257RCV000993976|RCV001099930|RCV001099931|RCV001467903; NMedGen:CN517202|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C314911714339461543394615CT1:g.43394615C>T-
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)6513SLC2A1Uncertain significancers780529723RCV000509454|RCV001217353|RCV001764508; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811; MONDO:MONDO:0013919,MedGen:C3553859,OMIM:614847; MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C3149117|14339461743394617CT1:g.43394617C>TClinGen:CA803361C1832855 601042 Dystonia 9;
NM_006516.4(SLC2A1):c.1033_1042del (p.Ala345fs)6513SLC2A1Pathogenicrs1553155973RCV000585705; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339463543394644GCACAACCCGCG1:g.43394635_43394644delClinGen:CA658683134CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)6513SLC2A1Conflicting interpretations of pathogenicityrs769943554RCV000192772|RCV000316012|RCV000372948|RCV000648088|RCV000725496; NMedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C3149117|MedGen:CN51720214339464343394643GANC_000001.10:g.43394643G>AClinGen:CA205824
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)6513SLC2A1Pathogenicrs1643457017RCV001249689; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583; MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811; MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:16857714339464843394649GGC1:g.43394648_43394649insC-
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)6513SLC2A1Conflicting interpretations of pathogenicityrs141619735RCV000189370|RCV000515255|RCV000720190|RCV000724044|RCV000768319|RCV001079673|RCV001781538; NMedGen:CN169374|MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:168577|MedGen:C2711754|MedGen:CN517202|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811; MONDO:MONDO:00114339466143394661AGNC_000001.10:g.43394661A>GClinGen:CA018983
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)6513SLC2A1Benignrs2229681RCV000081426|RCV000280704|RCV000338127|RCV000469072|RCV000715057; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C3149117|MedGen:C271175414339466643394666GANC_000001.10:g.43394666G>AClinGen:CA018974
NM_006516.4(SLC2A1):c.1007_1009del (p.Leu336del)6513SLC2A1Uncertain significancers587784389RCV000147517; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339466843394670TGCAT1:g.43394668_43394670delClinGen:CA018960CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)6513SLC2A1Pathogenic/Likely pathogenicrs1553155986RCV000517267|RCV000792856|RCV001091411|RCV001814181; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C3149117|MedGen:CN517202|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:9881114339467943394679CT1:g.43394679C>TClinGen:CA339956017CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)6513SLC2A1Conflicting interpretations of pathogenicityrs201989024RCV000324679|RCV001078760|RCV001099933|RCV001099932; NMedGen:CN517202|MedGen:C3149117|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339469043394690CT1:g.43394690C>TClinGen:CA803373C3149117 GLUT1 deficiency syndrome 1, autosomal recessive;
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)6513SLC2A1Conflicting interpretations of pathogenicity-1RCV001376893|RCV001647141|RCV001773659; NMedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN51720214339469243394692CT43394692-
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)6513SLC2A1Pathogenic/Likely pathogenicrs796053253RCV000189366|RCV000458906|RCV001781556; NMedGen:CN517202|MedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339488243394882GA1:g.43394882G>AClinGen:CA318448,UniProtKB:P11166#VAR_065219C3149117 GLUT1 deficiency syndrome 1, autosomal recessive;
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)6513SLC2A1Benignrs2229680RCV000081440|RCV000341806|RCV000400736|RCV000459595|RCV000715053; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C3149117|MedGen:C271175414339488743394887GANC_000001.10:g.43394887G>AClinGen:CA019368
NM_006516.4(SLC2A1):c.961A>C (p.Thr321Pro)6513SLC2A1Uncertain significance-1RCV001779387; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339489243394892TG43394892-
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)6513SLC2A1Pathogenicrs121909739RCV000017493|RCV000153967|RCV000473987|RCV001253635; NMONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811|MedGen:CN517202|MedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339491343394913CT1:g.43394913C>TClinGen:CA019364,UniProtKB:P11166#VAR_054764,OMIM:138140.0009C3553859 614847 Epilepsy, idiopathic generalized, susceptibility to, 12;
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)6513SLC2A1Conflicting interpretations of pathogenicityrs55693364RCV000179923|RCV001079646|RCV001101941|RCV001101942; NMedGen:CN517202|MedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339494743394947CA1:g.43394947C>AClinGen:CA019352C3149117 GLUT1 deficiency syndrome 1, autosomal recessive;
NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val)6513SLC2A1Uncertain significancers1425773776RCV001305693|RCV001779153; NMedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339495143394951GA43394951-
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)6513SLC2A1Benign/Likely benignrs148518827RCV000306227|RCV000363287|RCV000463634|RCV000720254|RCV001721222; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C3149117|MedGen:C2711754|MedGen:CN51720214339495843394958CTNC_000001.10:g.43394958C>TClinGen:CA318444
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)6513SLC2A1Pathogenicrs80359823RCV000189397|RCV000193872|RCV001380032; NMedGen:CN517202|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C314911714339496943394969GA1:g.43394969G>AClinGen:CA277218,UniProtKB:P11166#VAR_054763CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter)6513SLC2A1Pathogenicrs587784397RCV000147535; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339528443395284GA1:g.43395284G>AClinGen:CA019340CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)6513SLC2A1Pathogenicrs121909740RCV000017494|RCV000147534|RCV000189361|RCV001851890; NMONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN517202|MedGen:C314911714339530843395308CT1:g.43395308C>TClinGen:CA019335,UniProtKB:P11166#VAR_054761,OMIM:138140.0010CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)6513SLC2A1Benignrs201996220RCV001101943|RCV001101944; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339533343395333GA1:g.43395333G>A-
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)6513SLC2A1Uncertain significancers1302959508RCV001281367; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339534443395344AG43395344-
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)6513SLC2A1Conflicting interpretations of pathogenicityrs78388808RCV000147533|RCV000186663|RCV000310167|RCV000723592|RCV001084489; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN517202|MedGen:C314911714339535443395354GANC_000001.10:g.43395354G>AClinGen:CA019319
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)6513SLC2A1Conflicting interpretations of pathogenicityrs5811RCV000147532|RCV000805096|RCV001096519|RCV001096518|RCV001704070; NMedGen:CN169374|MedGen:C3149117|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN51720214339536743395367TG1:g.43395367T>GClinGen:CA019308CN169374 not specified;
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter)6513SLC2A1Pathogenicrs587784396RCV000147531|RCV000189359; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN51720214339538343395383GA1:g.43395383G>AClinGen:CA019302CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.732del (p.Met244fs)6513SLC2A1Pathogenicrs1553156069RCV000578223; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339539943395399TCT1:g.43395399_43395399delClinGen:CA658683135CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)6513SLC2A1Likely pathogenicrs1064795363RCV001251646; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339540043395400AG1:g.43395400A>G-
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)6513SLC2A1Pathogenicrs794729221RCV000184042|RCV000224228|RCV001333547; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phen14339540743395407GA1:g.43395407G>AClinGen:CA019289CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.680-3C>G6513SLC2A1Likely pathogenic-1RCV001775326; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339545443395454GC43395454-
NM_006516.4(SLC2A1):c.680-10G>T6513SLC2A1Conflicting interpretations of pathogenicityrs587784394RCV000147529|RCV000274920|RCV000614539|RCV001449164; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN169374|MedGen:C314911714339546143395461CA1:g.43395461C>AClinGen:CA019268C0393593 Dystonia;
NM_006516.4(SLC2A1):c.679+7G>C6513SLC2A1Benignrs13306757RCV000081438|RCV000259998|RCV000317495|RCV000713338|RCV001081121; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN517202|MedGen:C314911714339553743395537CGNC_000001.10:g.43395537C>GClinGen:CA019257
NM_006516.4(SLC2A1):c.679+7G>T6513SLC2A1Benignrs13306757RCV000147528|RCV000313526|RCV000370582|RCV000535220; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C314911714339553743395537CA1:g.43395537C>AClinGen:CA019263C0393593 Dystonia;
NM_006516.4(SLC2A1):c.679+4C>A6513SLC2A1Conflicting interpretations of pathogenicityrs139492241RCV000147527|RCV000189343|RCV000648079; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN169374|MedGen:C314911714339554043395540GT1:g.43395540G>TClinGen:CA019248CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)6513SLC2A1Benign/Likely benignrs534113895RCV000716921|RCV000867102|RCV001098261|RCV001098260|RCV001698412; NMedGen:C2711754|MedGen:C3149117|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN51720214339556643395566GANC_000001.10:g.43395566G>AClinGen:CA803485
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)6513SLC2A1Conflicting interpretations of pathogenicityrs374080633RCV000657887|RCV001098262|RCV001079315|RCV001098263|RCV001266484; NMedGen:CN517202|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MeSH:D030342,MedGen:C095012314339557043395570CT1:g.43395570C>T-CN517202 not provided;
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)6513SLC2A1Pathogenic/Likely pathogenicrs886039517RCV000255929|RCV001253348|RCV001390267; NMedGen:CN517202|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C314911714339558843395588CT1:g.43395588C>TClinGen:CA10588297,UniProtKB:P11166#VAR_065214CN517202 not provided;
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del)6513SLC2A1Likely pathogenicrs1557646075RCV000785926; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339559443395602ACTCTCGGGGA1:g.43395594_43395602del-
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter)6513SLC2A1Pathogenicrs1387203768RCV000986289; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339559843395598CA1:g.43395598C>A-
NM_006516.4(SLC2A1):c.624del (p.Glu209fs)6513SLC2A1Pathogenicrs1570592844RCV000986290; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339559943395599CGC1:g.43395599_43395599del-
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)6513SLC2A1Benignrs2229682RCV000081436|RCV000263600|RCV000576717|RCV000715045|RCV001510466|RCV001540049; NMedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C2711754|MedGen:C3149117|MedGen:CN51720214339563543395635CTNC_000001.10:g.43395635C>TClinGen:CA019224
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs)6513SLC2A1Pathogenicrs878853161RCV000224978; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339564843395649GATG1:g.43395648_43395649delClinGen:CA10581477CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)6513SLC2A1Pathogenicrs1570592933RCV000801605|RCV000986291; NMedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339566643395666CT1:g.43395666C>T-
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)6513SLC2A1Conflicting interpretations of pathogenicityrs377674001RCV000128106|RCV000147526|RCV000648093; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C314911714339568043395680GA1:g.43395680G>AClinGen:CA019213CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)6513SLC2A1Likely pathogenicrs773339124RCV001253375|RCV001255358; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phen14339631443396314CG1:g.43396314C>G-
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu)6513SLC2A1Pathogenic/Likely pathogenicrs794727642RCV000189394|RCV001253255|RCV001255335; NMedGen:CN517202|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0014339635543396355CA1:g.43396355C>AClinGen:CA318491CN517202 not provided;
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)6513SLC2A1Benignrs144538918RCV000081434|RCV000320845|RCV000377815|RCV000472423|RCV000715622|RCV001084153; NMedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN517202|MedGen:C2711754|MedGen:C314911714339639643396396GANC_000001.10:g.43396396G>AClinGen:CA019185
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)6513SLC2A1Conflicting interpretations of pathogenicityrs753500924RCV000285912|RCV000343145|RCV001456221; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C314911714339640243396402TC1:g.43396402T>CClinGen:CA803545C0393593 Dystonia;
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)6513SLC2A1Benignrs11537641RCV000081433|RCV000289611|RCV000381688|RCV000418552|RCV000715077|RCV001510467; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN517202|MedGen:C2711754|MedGen:C314911714339641443396414GANC_000001.10:g.43396414G>AClinGen:CA019178
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)6513SLC2A1Pathogenic/Likely pathogenicrs80359816RCV000017491|RCV000081432|RCV001387741; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN517202|MedGen:C314911714339643643396436CT1:g.43396436C>TClinGen:CA019167,UniProtKB:P11166#VAR_013183,OMIM:138140.0007C3553859 614847 Epilepsy, idiopathic generalized, susceptibility to, 12;
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)6513SLC2A1Pathogenic/Likely pathogenicrs80359818RCV000017498|RCV000030838|RCV000030839|RCV000081431|RCV000546969|RCV000824987; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN517202|MedGen:C3149117|MONDO:MONDO:0012143,MedGen:C183714339643743396437GA1:g.43396437G>AClinGen:CA019162,UniProtKB:P11166#VAR_054757,OMIM:138140.0014C1832855 601042 Dystonia 9;
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)6513SLC2A1Likely pathogenicrs1643480923RCV001253108|RCV001255340; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phen14339647443396474TCT1:g.43396474_43396474del-
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)6513SLC2A1Uncertain significancers1399284513RCV001100034|RCV001102022; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339648143396481CA1:g.43396481C>A-
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)6513SLC2A1Conflicting interpretations of pathogenicityrs577667739RCV000346798|RCV000394308|RCV000468529|RCV001721221; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C3149117|MedGen:CN51720214339650043396500CT1:g.43396500C>TClinGen:CA318425C0393593 Dystonia;
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)6513SLC2A1Benign/Likely benignrs76672402RCV000311944|RCV000350448|RCV000480070|RCV000662334|RCV000864633|RCV001711886; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN169374|MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811|MedGen:C3149117|MedGen:CN51720214339650143396501GC1:g.43396501G>CClinGen:CA803560C0393593 Dystonia;
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs)6513SLC2A1Pathogenicrs1557646673RCV000735239; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339651343396514GGTNC_000001.10:g.43396515dup-
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)6513SLC2A1Uncertain significancers1392755923RCV001102024|RCV001102023; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339653443396534CT1:g.43396534C>T-
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)6513SLC2A1Pathogenicrs267607061RCV000030922|RCV000442654|RCV000648074|RCV001291641|RCV001548750; NMONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811|MedGen:CN517202|MedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontolog14339653643396536GA1:g.43396536G>AClinGen:CA019133,UniProtKB:P11166#VAR_065207,OMIM:138140.0013C3149117 GLUT1 deficiency syndrome 1, autosomal recessive;
NM_006516.4(SLC2A1):c.275+1del6513SLC2A1Pathogenic-1RCV001353343; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339671643396716ACA43396715-
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)6513SLC2A1Conflicting interpretations of pathogenicityrs202060209RCV000400449|RCV000722005|RCV000732647|RCV001364077; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN517202|MedGen:C314911714339671843396718GTNC_000001.10:g.43396718G>TClinGen:CA318412
NM_006516.4(SLC2A1):c.274del (p.Arg92fs)6513SLC2A1Pathogenicrs1570593820RCV000986292; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339671843396718CGC1:g.43396718_43396718del-
NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp)6513SLC2A1Pathogenicrs80359814RCV000017490; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339672043396720CT1:g.43396720C>TClinGen:CA019112,UniProtKB:P11166#VAR_013182,OMIM:138140.0006CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)6513SLC2A1Conflicting interpretations of pathogenicityrs762583668RCV000768089|RCV001392600; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811; MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583; MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:168577; 14339680043396800GCNC_000001.10:g.43396800G>C-
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)6513SLC2A1Uncertain significancers765479065RCV000648090|RCV000718460|RCV001096619|RCV001096620; NMedGen:C3149117|MedGen:C2711754|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314339682043396820GANC_000001.10:g.43396820G>AClinGen:CA803602
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)6513SLC2A1Pathogenic-1RCV000760180; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583; MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:168577; MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811; 14339683043396831CCTNC_000001.10:g.43396831dup-
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)6513SLC2A1Benignrs149998596RCV000865433|RCV001096621|RCV001096622|RCV001711485; NMedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN51720214339685443396854CG1:g.43396854C>GClinGen:CA318421CN169374 not specified;
NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter)6513SLC2A1Pathogenic-1RCV001647242; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339685643396856GA43396856-
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=)6513SLC2A1Uncertain significancers886046341RCV000275639|RCV000354051; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339686043396860GA1:g.43396860G>AClinGen:CA10609978C0393593 Dystonia;
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala)6513SLC2A1Conflicting interpretations of pathogenicityrs748082803RCV000189348|RCV000819050|RCV001098347|RCV001096623; NMedGen:CN517202|MedGen:C3149117|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714339686743396867TG1:g.43396867T>GClinGen:CA318419CN169374 not specified;
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)6513SLC2A1Likely pathogenicrs1570601007RCV000824820; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714340890943408909AC1:g.43408909A>C-
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)6513SLC2A1Pathogenicrs80359812RCV000819798|RCV000995645|RCV001268517; NMedGen:C3149117|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN51720214340891043408910TC1:g.43408910T>C-
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)6513SLC2A1Pathogenic/Likely pathogenicrs587784390RCV000147518; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714340891143408911TC1:g.43408911T>CClinGen:CA018969CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=)6513SLC2A1Uncertain significancers1557651193RCV000768090; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583; MONDO:MONDO:0013919,MedGen:C3553859,OMIM:614847; MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:168577; MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277; MONDO:MONDO:00114340893643408936CTNC_000001.10:g.43408936C>T-
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs)6513SLC2A1Likely pathogenicrs1570601060RCV000986293; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714340896443408965AATGAGGAG1:g.43408964_43408965insTGAGGAG-
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)6513SLC2A1Benignrs1385129RCV000081435|RCV000366638|RCV000576517|RCV000715067|RCV001514142|RCV001610374|RCV001808316|RCV001808315; NMedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:C2711754|MedGen:C3149117|MedGen:CN517202|MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:16857714340896643408966GANC_000001.10:g.43408966G>AClinGen:CA019194
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs)6513SLC2A1Pathogenicrs587784393RCV000147524; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714340898343408992CCCGTCAGCTTC1:g.43408983_43408992delClinGen:CA019098CN030711 606777 GLUT1 deficiency syndrome 1;
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)6513SLC2A1Benign/Likely benignrs34025424RCV000147525|RCV000271966|RCV000327064|RCV000463852|RCV000715098|RCV001080125; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN517202|MedGen:C2711754|MedGen:C314911714340898443408984CTNC_000001.10:g.43408984C>TClinGen:CA019138
NM_006516.4(SLC2A1):c.19-2A>G6513SLC2A1Pathogenicrs796053272RCV000189392|RCV000850603; NMedGen:CN517202|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583; MONDO:MONDO:0012143,MedGen:C1837206,OMIM:608885, Orphanet:168577; MONDO:MONDO:0012805,MedGen:C1842534,OMIM:612126, Orphanet:98811; MONDO:MONDO:0011724,MedGen:C4551966,OMIM:60677714340899443408994TC1:g.43408994T>CClinGen:CA318488CN517202 not provided;
NM_006516.4(SLC2A1):c.18+12G>T6513SLC2A1Conflicting interpretations of pathogenicityrs587781171RCV000128099|RCV000268417|RCV000381545|RCV002055808; NMedGen:CN169374|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:C314911714342429343424293CA1:g.43424293C>AClinGen:CA019093C0393593 Dystonia;
NM_006516.4(SLC2A1):c.-26G>C6513SLC2A1Benignrs375001117RCV000189338|RCV000377933|RCV000323326; NMedGen:CN169374|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:7127714342434843424348CG1:g.43424348C>GClinGen:CA318408C0393593 Dystonia;
NM_006516.4(SLC2A1):c.-129G>T6513SLC2A1Uncertain significancers936174986RCV001100135|RCV001100134; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314342445143424451CA1:g.43424451C>A-
NM_006516.4(SLC2A1):c.-190G>C6513SLC2A1Benignrs114514007RCV000283528|RCV000338598|RCV000832506; NMONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MedGen:CN51720214342451243424512CGNC_000001.10:g.43424512C>GClinGen:CA10609979C0393593 Dystonia;
NM_006516.4(SLC2A1):c.-192G>C6513SLC2A1Uncertain significancers886046342RCV000280051|RCV000374323; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314342451443424514CG1:g.43424514C>GClinGen:CA10610270C0393593 Dystonia;
NM_006516.4(SLC2A1):c.-194G>A6513SLC2A1Uncertain significancers984267596RCV001100136|RCV001102131; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314342451643424516CT1:g.43424516C>T-
NM_006516.4(SLC2A1):c.-197A>C6513SLC2A1Benignrs11537640RCV000335064|RCV000398107|RCV000829780; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:53583|MedGen:CN51720214342451943424519TGNC_000001.10:g.43424519T>GClinGen:CA10610271C0393593 Dystonia;
NM_006516.4(SLC2A1):c.-202G>C6513SLC2A1Uncertain significancers1016572946RCV001102133|RCV001102132; NMONDO:MONDO:0011724,MedGen:C4551966,OMIM:606777, Orphanet:71277|MONDO:MONDO:0010983,MedGen:C1832855,OMIM:601042, Orphanet:5358314342452443424524CG1:g.43424524C>G-
MSeqDR Portal