Sugi Variant

Sugi Variant/SLC2A1

SLC2A1 — 1203 ClinVar variants

All ClinVar germline SLC2A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 414 flagged for review →

209 Pathogenic · 37 Pathogenic/Likely pathogenic · 90 Likely pathogenic · 96 Conflicting · 35 Benign · 29 Benign/Likely benign · 260 Likely benign · 447 Uncertain significance

Full SLC2A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 414

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 49

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 281

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 281

Predictors split 79

The independent predictors disagree with each other — read with care.

All SLC2A1 variants

Pathogenic 209

  • c.115-2A>C Multiple submitters dystonia 9
  • c.115-2A>G Multiple submitters encephalopathy due to GLUT1 deficiency
  • c.18+1G>A Multiple submitters encephalopathy due to GLUT1 deficiency
  • c.19-2A>G Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.275+1G>C Multiple submitters encephalopathy due to GLUT1 deficiency
  • c.276-1G>A Multiple submitters encephalopathy due to GLUT1 deficiency
  • c.680-11G>A Multiple submitters SLC2A1-related disorder
  • p.Arg153Cys Multiple submitters SLC2A1-related disorder
  • p.Arg212fs Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg223Trp Multiple submitters dystonia 9 ⚠
  • p.Arg264fs Multiple submitters SLC2A1-related disorder
  • p.Arg330Ter Multiple submitters Inborn genetic diseases
  • p.Arg400Cys Multiple submitters Inborn genetic diseases
  • p.Arg400Leu Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg93Trp Multiple submitters SLC2A1-related disorder
  • p.Asn34Ser Multiple submitters Seizure
  • p.Cys133Ter Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12
  • p.Gln161Ter Multiple submitters Inborn genetic diseases
  • p.Gln242fs Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln242Ter Multiple submitters Inborn genetic diseases
  • p.Gln250Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gln270Ter Multiple submitters Inborn genetic diseases
  • p.Gln279Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gln282Ter Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12
  • p.Gln283Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gln360Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gln46Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Glu209Ter Multiple submitters epilepsy
  • p.Glu247Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gly130Arg Multiple submitters Inborn genetic diseases
  • p.Gly130Ser Multiple submitters SLC2A1-related disorder
  • p.Gly314fs Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gly314Ser Multiple submitters SLC2A1-related disorder
  • p.Met1Leu Multiple submitters Inborn genetic diseases
  • p.Met1Val Multiple submitters dystonia 9
  • p.Thr295Met Multiple submitters SLC2A1-related disorder
  • p.Trp186Ter Multiple submitters Inborn genetic diseases
  • p.Tyr424Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Tyr432Ter Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Val140Met Multiple submitters SLC2A1-related disorder ⚠
  • p.Val165Ile Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.114+1G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-1_115dup Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-3del Single submitter
  • c.18+2T>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.275+1G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-2A>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-2A>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.54_114+1del Single submitter
  • c.679+1G>A Single submitter encephalopathy due to GLUT1 deficiency
  • c.679+1G>C Single submitter Inborn genetic diseases
  • c.680-1G>C Single submitter SLC2A1-related disorder
  • c.680-2A>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-2A>G Single submitter
  • c.680-2del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.868-2A>G Single submitter
  • c.970_972+3del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+1_972+3del Single submitter
  • c.972+1G>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+1G>T Single submitter SLC2A1-related disorder
  • p.Ala151fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala345fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Ala392fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Ala403Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala472fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala70_Phe72del Single submitter
  • p.Arg126Gly Single submitter encephalopathy due to GLUT1 deficiency
  • p.Arg253fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg333fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg334fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg92fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Arg93fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn100fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Asn219fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn317_Phe320del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Cys133Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Cys421Ter Single submitter Inborn genetic diseases
  • p.Cys429fs Single submitter dystonia 9
  • p.Gln161Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln172fs Single submitter
  • p.Gln172Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln25Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln282fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln283Arg Single submitter
  • p.Gln37fs Single submitter
  • p.Gln37Ter Single submitter encephalopathy due to GLUT1 deficiency
  • p.Gln397Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln427fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln46fs Single submitter
  • p.Glu146fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu146Lys Single submitter
  • p.Glu209fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Glu243Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu329Gln Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu359fs Single submitter
  • p.Glu359Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu393fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu393Lys Single submitter
  • p.Glu426Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu42Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly10fs Single submitter dystonia 9
  • p.Gly125fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly130Cys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly145_Glu146insTer Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly157fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly167fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Gly17Ter Single submitter GLUT1 deficiency syndrome
  • p.Gly233fs Single submitter
  • p.Gly286Asp Single submitter hereditary cryohydrocytosis with reduced stomatin
  • p.Gly314Arg Single submitter
  • p.Gly332Asp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly340fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly374fs Single submitter Inborn genetic diseases
  • p.Gly419= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly471fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile129fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile192fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Ile287Leu Single submitter intellectual disability
  • p.Ile369fs Single submitter
  • p.Ile372Asn Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile386fs Single submitter
  • p.Ile386Met Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu102fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu122fs Single submitter
  • p.Leu169Pro Single submitter
  • p.Leu189fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu214fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu228Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu278Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu280fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu367_Ser368insTer Single submitter encephalopathy due to GLUT1 deficiency
  • p.Leu367fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys300Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys451Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys6Ter Single submitter childhood onset GLUT1 deficiency syndrome 2
  • p.Met13fs Single submitter dystonia 9
  • p.Met142fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Met142Lys Single submitter encephalopathy due to GLUT1 deficiency
  • p.Met180fs Single submitter
  • p.Met180Lys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Met244fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Met344fs Single submitter dystonia 9
  • p.Met351Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Met420Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met77fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Met98fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Met99fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe104fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe379fs Single submitter dystonia 9
  • p.Phe395fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe409fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe422Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe72Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe86fs Single submitter Inborn genetic diseases
  • p.Pro362_Trp363insTer Single submitter encephalopathy due to GLUT1 deficiency
  • p.Pro362fs Single submitter
  • p.Pro453fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ser106fs Single submitter
  • p.Ser148Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ser294Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ser324fs Single submitter
  • p.Ser324Pro Single submitter
  • p.Ser365_Tyr366insTer Single submitter
  • p.Ser396Ter Single submitter
  • p.Ser55fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ser66Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser68fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr137fs Single submitter
  • p.Thr310fs Single submitter epilepsy with myoclonic atonic seizures
  • p.Thr318fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Thr60fs Single submitter
  • p.Thr63fs Single submitter
  • p.Trp363Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Trp388fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Trp412Arg Single submitter
  • p.Trp412Ter Single submitter
  • p.Trp48Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Tyr132fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Tyr292fs Single submitter
  • p.Tyr292Ter Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Tyr293Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Tyr308fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Tyr366fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Tyr449Ter Single submitter SLC2A1-related disorder
  • p.Val131_Arg153del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val166del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val20fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val277fs Single submitter
  • p.Val303fs Single submitter
  • p.Val327fs Single submitter
  • p.Val328Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val381fs Single submitter dystonia 9
  • p.Val406fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val74fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val83fs Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-1G>C No assertion criteria SLC2A1-related disorder
  • c.275+1del No assertion criteria encephalopathy due to GLUT1 deficiency
  • p.Arg126Leu No assertion criteria GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn34Ile No assertion criteria childhood onset GLUT1 deficiency syndrome 2
  • p.Gly91Asp No assertion criteria encephalopathy due to GLUT1 deficiency
  • p.His337Leu No assertion criteria self-limited epilepsy with centrotemporal spikes
  • p.Ile349fs No assertion criteria childhood onset GLUT1 deficiency syndrome 2
  • p.Lys456Ter No assertion criteria encephalopathy due to GLUT1 deficiency
  • p.Phe450fs No assertion criteria encephalopathy due to GLUT1 deficiency
  • p.Pro387fs No assertion criteria SLC2A1-related disorder
  • p.Ser95Ile No assertion criteria childhood onset GLUT1 deficiency syndrome 2
  • p.Thr158fs No assertion criteria cerebellar ataxia
  • p.Tyr293_Ser294insTyr No assertion criteria childhood onset GLUT1 deficiency syndrome 2
  • p.Val323fs No assertion criteria GLUT1 deficiency syndrome

Pathogenic/Likely pathogenic 37

  • c.276-2A>G Multiple submitters SLC2A1-related disorder
  • c.517-1G>A Multiple submitters SLC2A1-related disorder
  • c.-107G>A Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala275Thr Multiple submitters SLC2A1-related disorder
  • p.Arg126Cys Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Arg126His Multiple submitters SLC2A1-related disorder
  • p.Arg153Leu Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg153Pro Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg212Cys Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg212His Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg232Cys Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg249fs Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Arg333Gln Multiple submitters SLC2A1-related disorder
  • p.Arg333Trp Multiple submitters SLC2A1-related disorder
  • p.Arg400His Multiple submitters childhood onset GLUT1 deficiency syndrome 2
  • p.Arg458Trp Multiple submitters dystonia 9
  • p.Arg92Trp Multiple submitters SLC2A1-related disorder
  • p.Asn34Asp Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln200Ter Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln282_Ser285del Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Glu246fs Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu329Lys Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gly134Ser Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gly175Val Multiple submitters dystonia 9
  • p.Gly17Arg Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Gly419Asp Multiple submitters Inborn genetic diseases
  • p.Ile436del Multiple submitters Inborn genetic diseases
  • p.Leu169del Multiple submitters childhood onset GLUT1 deficiency syndrome 2
  • p.Leu336fs Multiple submitters SLC2A1-related disorder
  • p.Met1Arg Multiple submitters SLC2A1-related disorder
  • p.Met1Thr Multiple submitters SLC2A1-related disorder
  • p.Met420Thr Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met96Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Pro211Ser Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro485Leu Multiple submitters Epileptic encephalopathy ⚠
  • p.Ser324= Multiple submitters Adult onset hereditary spastic paraplegia
  • p.Ser324Leu Multiple submitters Inborn genetic diseases

Likely pathogenic 90

  • c.1279-2A>G Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala70Val Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Glu247Asp Multiple submitters SLC2A1-related disorder
  • p.Leu215Phe Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr310Ile Multiple submitters SLC2A1-related disorder
  • c.1075-16_1076del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.114+1G>T Single submitter SLC2A1-related disorder
  • c.679+5G>T Single submitter
  • c.680-12C>A Single submitter hereditary cryohydrocytosis with reduced stomatin
  • c.680-3C>G Single submitter encephalopathy due to GLUT1 deficiency
  • c.868-1G>A Single submitter SLC2A1-related disorder
  • c.868-1G>T Single submitter encephalopathy due to GLUT1 deficiency
  • c.868-2A>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala155Thr Single submitter SLC2A1-related disorder
  • p.Ala289Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala403Thr Single submitter epilepsy
  • p.Arg153Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg212Gly Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg400_Pro401insSer Single submitter encephalopathy due to GLUT1 deficiency
  • p.Arg400Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg458Gln Single submitter ⚠
  • p.Arg458Pro Single submitter
  • p.Asn222fs Single submitter SLC2A1-related disorder
  • p.Asn29fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Asn317Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn34Lys Single submitter encephalopathy due to GLUT1 deficiency
  • p.Asp236Val Single submitter
  • p.Cys133Phe Single submitter
  • p.Cys207Trp Single submitter SLC2A1-related disorder
  • p.Gln161Arg Single submitter
  • p.Gln200fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Gln279fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Gln305Ter Single submitter childhood onset GLUT1 deficiency syndrome 2
  • p.Gln427Ter Single submitter
  • p.Glu146Asp Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Glu209_Pro211del Single submitter encephalopathy due to GLUT1 deficiency
  • p.Glu243Lys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu243Val Single submitter GLUT1 deficiency syndrome
  • p.Gly130Ala Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly134Cys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly167Arg Single submitter intellectual disability
  • p.Gly175Cys Single submitter encephalopathy due to GLUT1 deficiency
  • p.Gly181Val Single submitter Inborn genetic diseases
  • p.Gly314Asp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly31Val Single submitter SLC2A1-related disorder
  • p.Gly382Arg Single submitter SLC2A1-related disorder
  • p.Gly419Val Single submitter
  • p.Gly76Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile123_Arg126delinsThr Single submitter encephalopathy due to GLUT1 deficiency
  • p.Ile164fs Single submitter SLC2A1-related disorder
  • p.Ile372Phe Single submitter
  • p.Leu228Gln Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu231Pro Single submitter childhood onset GLUT1 deficiency syndrome 2
  • p.Leu284Pro Single submitter childhood onset GLUT1 deficiency syndrome 2
  • p.Leu336Arg Single submitter encephalopathy due to GLUT1 deficiency
  • p.Lys114fs Single submitter intellectual disability
  • p.Met142Leu Single submitter childhood onset GLUT1 deficiency syndrome 2 ⚠
  • p.Met96fs Single submitter intellectual disability
  • p.Met98_Leu102del Single submitter
  • p.Met99Arg Single submitter ⚠
  • p.Phe127_Ile128insSerPhe Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe139fs Single submitter
  • p.Pro271_Ile272del Single submitter
  • p.Pro36Arg Single submitter Seizure
  • p.Pro383Leu Single submitter
  • p.Pro401Leu Single submitter SLC2A1-related disorder
  • p.Ser294Ala Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ser294Phe Single submitter Inborn genetic diseases
  • p.Ser313Phe Single submitter childhood onset GLUT1 deficiency syndrome 2
  • p.Ser365fs Single submitter SLC2A1-related disorder
  • p.Ser410_Asn411del Single submitter
  • p.Ser66Pro Single submitter childhood onset GLUT1 deficiency syndrome 2
  • p.Ser80Phe Single submitter SLC2A1-related disorder
  • p.Thr295Lys Single submitter
  • p.Trp412Gly Single submitter encephalopathy due to GLUT1 deficiency
  • p.Trp65fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Trp65Ter Single submitter dystonia 9
  • p.Tyr143Cys Single submitter dystonia 9
  • p.Tyr293Asp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Tyr366Ter Single submitter SLC2A1-related disorder
  • p.Tyr424fs Single submitter
  • p.Val140fs Single submitter
  • p.Val140Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Val16fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Val322fs Single submitter encephalopathy due to GLUT1 deficiency
  • p.Val452fs Single submitter SLC2A1-related disorder
  • c.19-1G>A No assertion criteria SLC2A1-related disorder
  • c.972+5G>A No assertion criteria encephalopathy due to GLUT1 deficiency
  • p.Phe379Ser No assertion criteria childhood onset GLUT1 deficiency syndrome 2
  • p.Phe434Val No assertion criteria childhood onset GLUT1 deficiency syndrome 2

Conflicting classifications of pathogenicity 96

  • c.114+18G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+12del Single submitter hereditary cryohydrocytosis with reduced stomatin
  • c.1279-10T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-11_1279-8del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.18+12G>T Single submitter dystonia 9
  • c.19-4G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-7T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-8G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+4C>A Single submitter encephalopathy due to GLUT1 deficiency
  • c.679+4C>T Single submitter Inborn genetic diseases
  • c.680-10G>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+7del Single submitter Inborn genetic diseases
  • c.-2C>T Single submitter Inborn genetic diseases
  • p.Ala107= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala267Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala289Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala301= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala301Val Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Ala342Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala345= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala345Val Single submitter dystonia 9
  • p.Ala354= Single submitter encephalopathy due to GLUT1 deficiency
  • p.Ala377Asp Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Ala405= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg153His Single submitter SLC2A1-related disorder ⚠
  • p.Arg218Cys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg218His Single submitter dystonia 9 ⚠
  • p.Arg232His Single submitter epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Arg249Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg253Gln Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg264Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg269Cys Single submitter dystonia 9 ⚠
  • p.Arg468Trp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg51Pro Single submitter childhood onset GLUT1 deficiency syndrome 2 ⚠
  • p.Arg92= Single submitter encephalopathy due to GLUT1 deficiency
  • p.Arg92Gln Single submitter hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Arg93Gln Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asn411Ser Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Asp489= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Cys421Arg Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Gln242= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln37Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln46His Single submitter hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Glu329= Single submitter Inborn genetic diseases
  • p.Glu42Ala Single submitter dystonia 9 ⚠
  • p.Glu480Lys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly175Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly175Ser Single submitter hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gly181= Single submitter Inborn genetic diseases
  • p.Gly18Arg Single submitter SLC2A1-related disorder ⚠
  • p.Gly27Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly302= Single submitter dystonia 9
  • p.Gly408Asp Single submitter hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gly470Trp Single submitter Inborn genetic diseases ⚠
  • p.His239Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile129Met Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile259= Single submitter encephalopathy due to GLUT1 deficiency
  • p.Ile339Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Ile446= Single submitter
  • p.Ile463Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu198Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu482= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu64= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys255Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys6= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Met142Ile Single submitter epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Met244Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met244Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met420Ile Single submitter childhood onset GLUT1 deficiency syndrome 2 ⚠
  • p.Met77Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met96Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe298= Single submitter Inborn genetic diseases
  • p.Phe379del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe445del Single submitter
  • p.Phe86= Single submitter hereditary cryohydrocytosis with reduced stomatin
  • p.Pro36Leu Single submitter intellectual disability ⚠
  • p.Pro385Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro399Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ser313Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ser465= Single submitter Inborn genetic diseases
  • p.Ser68Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Thr137= Single submitter dystonia 9
  • p.Thr60Met Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Thr63Met Single submitter Inborn genetic diseases ⚠
  • p.Thr9Met Single submitter dystonia 9 ⚠
  • p.Tyr292Cys Single submitter epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Tyr293His Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Val105Met Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Val108Met Single submitter epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Val166= Single submitter Inborn genetic diseases
  • p.Val237Met Single submitter Inborn genetic diseases ⚠
  • p.Val370Met Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Val391Leu Single submitter ⚠
  • p.Val406Ile Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Val433Ile Single submitter Inborn genetic diseases ⚠
  • p.Val87Ile Single submitter Inborn genetic diseases ⚠

Benign 35

Benign/Likely benign 29

  • c.1278+9C>G Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.19-12G>A Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.19-5C>T Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.275+17C>T Multiple submitters encephalopathy due to GLUT1 deficiency
  • c.276-19C>T Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.276-9C>T Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.517-18G>A Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.679+7G>T Multiple submitters Paroxysmal central nervous system disorders
  • c.680-12C>T Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.972+25C>A Multiple submitters
  • c.*22G>A Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ala15= Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Asn219= Multiple submitters Inborn genetic diseases
  • p.Asn288= Multiple submitters Inborn genetic diseases
  • p.Cys133= Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Glu299Lys Multiple submitters Inborn genetic diseases
  • p.Gly398= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.His337= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ile353= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Leu169= Multiple submitters Inborn genetic diseases
  • p.Leu341= Multiple submitters Inborn genetic diseases
  • p.Leu355= Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Leu428= Multiple submitters Inborn genetic diseases
  • p.Phe104Leu Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Phe139= Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Pro479= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Thr295= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Thr9= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Tyr432= Multiple submitters encephalopathy due to GLUT1 deficiency

Likely benign 260

  • c.1074+13G>A Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-14G>A Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.114+13C>G Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-38C>A Multiple submitters
  • c.19-20T>C Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-11C>T Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.517-16C>T Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-19C>T Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-25C>T Multiple submitters
  • c.517-54C>A Multiple submitters
  • c.680-16C>T Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.867+11C>T Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+17T>A Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+17T>C Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+20C>G Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.972+7C>G Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.-14A>C Multiple submitters
  • p.Ala319= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Arg232= Multiple submitters childhood onset GLUT1 deficiency syndrome 2
  • p.Asp236= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Cys201= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln250= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Glu243= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu254= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu41= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Glu454= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Gly384= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ile129= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile164= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ile202= Multiple submitters Inborn genetic diseases
  • p.Ile274= Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Ile315= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ile369= Multiple submitters dystonia 9
  • p.Ile40= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu115= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Leu228= Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Leu284= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Leu357= Multiple submitters dystonia 9
  • p.Leu61= Multiple submitters Inborn genetic diseases
  • p.Phe104= Multiple submitters Inborn genetic diseases
  • p.Phe174= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe378= Multiple submitters encephalopathy due to GLUT1 deficiency
  • p.Phe444= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro479Thr Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12
  • p.Ser106= Multiple submitters dystonia 9
  • p.Ser113= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ser118= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12
  • p.Ser313= Multiple submitters dystonia 9
  • p.Thr438= Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr63= Multiple submitters dystonia 9
  • p.Tyr268= Multiple submitters Inborn genetic diseases
  • p.Val165= Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • c.1074+12G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1074+19G>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1074+20A>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1074+8_1074+9delinsTT Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-13T>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-14_1075-10dup Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-15C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-233C>T Single submitter
  • c.1075-272G>A Single submitter
  • c.1075-299G>A Single submitter
  • c.1075-4A>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-7T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-89G>T Single submitter
  • c.114+14C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.114+6dup Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-10C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-13T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-17T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-5T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.115-6C>T Single submitter
  • c.115-7C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+11_1278+14dup Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+11C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+13A>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+13del Single submitter
  • c.1278+14del Single submitter
  • c.1278+8C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+9C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-11G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-13G>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-15C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-16T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-17G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-6T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1279-9G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.19-104_19-103del Single submitter
  • c.19-12_19-9del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.19-18_19-17del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.19-18T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.19-8C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.19-9T>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.275+13G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.275+14G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-14G>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-4C>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-5C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-9del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.516+12C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.516+17T>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.516+19T>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.516+79G>A Single submitter
  • c.516+84_516+85del Single submitter
  • c.516+9G>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-10C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-15C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-17G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-38G>A Single submitter
  • c.517-4C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.517-6C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+13C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+13C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+19C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+7del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+7G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+9A>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-10G>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-11G>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-14T>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-17C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-27C>T Single submitter
  • c.680-4C>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-6C>T Single submitter
  • c.680-7C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-8C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.867+10C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.867+18C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.867+19C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.867+79T>C Single submitter
  • c.867+93C>G Single submitter
  • c.868-12_868-11del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.868-19A>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.868-20C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+13T>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+17_972+22del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+20C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.972+26dup Single submitter
  • c.972+9_972+10del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.973-12C>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.973-12C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.973-16C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.973-18C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.973-4A>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.-41C>T Single submitter
  • c.-50G>T Single submitter
  • c.-555T>A Single submitter
  • c.*10G>C Single submitter
  • c.*3C>T Single submitter
  • p.Ala103= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala224= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala235= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala267= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala342= Single submitter
  • p.Ala35= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala371= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala407= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg153= Single submitter
  • p.Arg218= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg223= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg264= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg330= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg400= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg51= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn100= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn182= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn217= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asp240= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Cys429= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gln423Arg Single submitter ⚠
  • p.Gln469= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu120= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu2= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu42= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu480= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly10= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly116Ser Single submitter Inborn genetic diseases
  • p.Gly130= Single submitter
  • p.Gly157= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly312= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly340= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly343= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly346= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly408= Single submitter
  • p.Gly430= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly470= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly91= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.His160= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.His239= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile123= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile168= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile170= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile463= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile71= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu101= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu12= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu135= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu188= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu199= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu241= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu262= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu280= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu350= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu361= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu367= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu394= Single submitter
  • p.Leu440= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Leu443= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys117= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys183= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys229= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Lys255= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe112= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe127= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe194= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe409= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe43= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe445= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe447= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe460= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro141= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro149= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro196= Single submitter
  • p.Pro208= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro211= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro266= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro3= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro383= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro385= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro387= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Pro453= Single submitter
  • p.Ser23= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ser296= Single submitter
  • p.Ser365= Single submitter
  • p.Ser4= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ser68= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr136= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr158= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr310= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr318= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr335= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr352= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr47= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr59= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Thr60= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Tyr28= Single submitter
  • p.Tyr308= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Tyr52= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val105= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val131= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val144= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val307= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val32= Single submitter
  • p.Val323= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val418= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val439= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val492= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Val83= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.18+5G>A No assertion criteria
  • c.-115G>C No assertion criteria SLC2A1-related disorder

Uncertain significance 447

Showing the top 300 by review status; the full set is in the sitemap.

  • c.517-3C>G Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+5G>A Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12
  • c.*560T>C Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ala103Asp Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala151Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala171Thr Multiple submitters dystonia 9 ⚠
  • p.Ala197Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala301Gly Multiple submitters dystonia 9 ⚠
  • p.Ala331Thr Multiple submitters encephalopathy due to GLUT1 deficiency ⚠
  • p.Ala354Thr Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Ala35Ser Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Ala35Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg11Cys Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Arg11His Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg223Gln Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Arg253Trp Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Arg264His Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Arg269His Multiple submitters dystonia 9 ⚠
  • p.Arg330Gln Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg334Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg468Gln Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg51His Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Arg89Cys Multiple submitters ⚠
  • p.Arg89His Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Asn182Ser Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Cys201Gly Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Cys429Ser Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gln25Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln397His Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gln423Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln46Glu Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gln474Pro Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Glu209Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu246Asp Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Glu41Lys Multiple submitters childhood onset GLUT1 deficiency syndrome 2 ⚠
  • p.Gly125Ala Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gly145Cys Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly233Arg Multiple submitters encephalopathy due to GLUT1 deficiency ⚠
  • p.Gly398Ser Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gly457Ala Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly466Ser Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gly470Arg Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Gly53Val Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Gly84Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly84Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His484Tyr Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Ile170Thr Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile179Thr Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile193Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile216Val Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Ile315Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile339Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile349Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile404Thr Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile404Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile417Thr Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile446Asn Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu122Val Multiple submitters ⚠
  • p.Leu12His Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu185Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu336Pro Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu336Val Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Leu338Phe Multiple submitters encephalopathy due to GLUT1 deficiency ⚠
  • p.Leu350Pro Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu482Pro Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Lys256del Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Lys256Val Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Lys300Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys456Glu Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met13Leu Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met351Ile Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Met98Val Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Phe263Leu Multiple submitters encephalopathy due to GLUT1 deficiency ⚠
  • p.Phe378Ala Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Phe416Leu Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Phe450Ile Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Pro196Ala Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Pro196Leu Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Pro211Leu Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Pro362Ser Multiple submitters dystonia 9 ⚠
  • p.Pro383Ser Multiple submitters dystonia 9 ⚠
  • p.Pro479Leu Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Pro58Leu Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Pro58Ser Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Ser113Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser210Arg Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Ser265Phe Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ser473Asn Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Ser4Asn Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Thr318Met Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Thr448Ala Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Tyr308Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val105Leu Multiple submitters encephalopathy due to GLUT1 deficiency ⚠
  • p.Val131Ala Multiple submitters Inborn genetic diseases
  • p.Val147Met Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Val16Met Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Val277Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val303Leu Multiple submitters hereditary cryohydrocytosis with reduced stomatin
  • p.Val316Ile Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Val322Ala Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Val323Met Multiple submitters hereditary cryohydrocytosis with reduced stomatin ⚠
  • p.Val370Ala Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Val376Met Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Val381Met Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Val391Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val49Ala Multiple submitters GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • c.1047_1074+4dup Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1075-3C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.114+3G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.114+7A>G Single submitter
  • c.115-3C>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+3G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.1278+4A>G Single submitter
  • c.1278+6A>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.18+5439G>T Single submitter childhood onset GLUT1 deficiency syndrome 2
  • c.19-4G>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.275+6T>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-10C>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.276-8_276-3del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.516+6C>G Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.516+7T>G Single submitter
  • c.517-1G>C Single submitter childhood onset GLUT1 deficiency syndrome 2
  • c.517-3C>T Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+3A>G Single submitter encephalopathy due to GLUT1 deficiency
  • c.679+3dup Single submitter
  • c.679+5G>C Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.679+6G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.680-3C>A Single submitter
  • c.867+6T>C Single submitter
  • c.867+90A>G Single submitter SLC2A1-related disorder
  • c.868-5G>A Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.868-6T>A Single submitter
  • c.972+4_972+5del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • c.973-3C>T Single submitter
  • c.-129G>T Single submitter encephalopathy due to GLUT1 deficiency
  • c.-192G>C Single submitter dystonia 9
  • c.-194G>A Single submitter encephalopathy due to GLUT1 deficiency
  • c.-202G>C Single submitter encephalopathy due to GLUT1 deficiency
  • c.-388G>C Single submitter
  • c.-5C>T Single submitter
  • c.*1016A>G Single submitter dystonia 9
  • c.*1079T>G Single submitter encephalopathy due to GLUT1 deficiency
  • c.*107G>A Single submitter encephalopathy due to GLUT1 deficiency
  • c.*1081T>A Single submitter dystonia 9
  • c.*1147G>C Single submitter dystonia 9
  • c.*1149C>A Single submitter dystonia 9
  • c.*11A>G Single submitter
  • c.*1205C>T Single submitter dystonia 9
  • c.*1246G>A Single submitter dystonia 9
  • c.*1281A>G Single submitter dystonia 9
  • c.*1321T>A Single submitter dystonia 9
  • c.*1337A>C Single submitter dystonia 9
  • c.*1337A>G Single submitter dystonia 9
  • c.*1564C>T Single submitter dystonia 9
  • c.*1611T>C Single submitter dystonia 9
  • c.*216C>T Single submitter encephalopathy due to GLUT1 deficiency
  • c.*368A>C Single submitter dystonia 9
  • c.*413G>A Single submitter encephalopathy due to GLUT1 deficiency
  • c.*514G>T Single submitter encephalopathy due to GLUT1 deficiency
  • c.*587A>T Single submitter dystonia 9
  • c.*597G>A Single submitter encephalopathy due to GLUT1 deficiency
  • c.*609G>C Single submitter dystonia 9
  • c.*651G>T Single submitter encephalopathy due to GLUT1 deficiency
  • c.*750T>A Single submitter dystonia 9
  • c.*775A>G Single submitter encephalopathy due to GLUT1 deficiency
  • c.*784A>G Single submitter dystonia 9
  • c.*92G>A Single submitter dystonia 9
  • p.59TTL[1] Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala103Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala107Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala151Asp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala155Asp Single submitter SLC2A1-related disorder ⚠
  • p.Ala15Ser Single submitter ⚠
  • p.Ala19Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala19Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala267Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala289= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ala342Val Single submitter Inborn genetic diseases ⚠
  • p.Ala348Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala35Gly Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala371Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ala392Ser Single submitter ⚠
  • p.Ala464Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg218_Asn219del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Arg218Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg249Trp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg253Gly Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg253Pro Single submitter ⚠
  • p.Arg334Trp Single submitter childhood onset GLUT1 deficiency syndrome 2 ⚠
  • p.Arg468Leu Single submitter ⚠
  • p.Arg92Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Arg93= Single submitter
  • p.Asn217Thr Single submitter ⚠
  • p.Asn219Ser Single submitter ⚠
  • p.Asn222Lys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asn222Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asn288Ile Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asn288Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asn29Asp Single submitter ⚠
  • p.Asn317Lys Single submitter ⚠
  • p.Asn34Thr Single submitter ⚠
  • p.Asn411His Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Asn415His Single submitter ⚠
  • p.Asn45Asp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asn88Ser Single submitter ⚠
  • p.Asn94Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asp184Gly Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asp236Tyr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asp461Asn Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Asp461Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Asp476Asn Single submitter ⚠
  • p.Cys133Trp Single submitter ⚠
  • p.Cys201Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys347Tyr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Cys429Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Cys429Tyr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gln161Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gln25= Single submitter encephalopathy due to GLUT1 deficiency
  • p.Gln25His Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gln279Leu Single submitter ⚠
  • p.Gln37His Single submitter ⚠
  • p.Gln469fs Single submitter
  • p.Gln469His Single submitter childhood onset GLUT1 deficiency syndrome 2 ⚠
  • p.Gln46Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln474His Single submitter ⚠
  • p.Glu120Lys Single submitter ⚠
  • p.Glu220Lys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Glu221del Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Glu221Gly Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Glu247Gly Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Glu254Lys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Glu2Gly Single submitter ⚠
  • p.Glu42Gln Single submitter ⚠
  • p.Glu54Asp Single submitter ⚠
  • p.Gly111Val Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Gly154Trp Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly157Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly163Ser Single submitter
  • p.Gly167Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly17Glu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly181Ser Single submitter ⚠
  • p.Gly18Glu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly286Cys Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly302Glu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly312Ser Single submitter childhood onset GLUT1 deficiency syndrome 2 ⚠
  • p.Gly31Glu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly332Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly332Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly346Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly374Asp Single submitter ⚠
  • p.Gly374Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly384Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 12 ⚠
  • p.Gly408Ala Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly419Ala Single submitter
  • p.Gly430Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly466Asp Single submitter ⚠
  • p.Gly471Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly53= Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Gly79Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Gly79Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.His160Tyr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.His337Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.His337Tyr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.His484fs Single submitter
  • p.Ile123Met Single submitter ⚠
  • p.Ile128Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile168Met Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile192Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile192Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile193_Ile202dup Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile193Asn Single submitter GLUT1 deficiency syndrome 1, autosomal recessive
  • p.Ile202Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile202Met Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile202Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile259Leu Single submitter ⚠
  • p.Ile272Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile297Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile311Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile315Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile33Thr Single submitter ⚠
  • p.Ile353Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile369Val Single submitter ⚠
  • p.Ile386Ser Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile404Met Single submitter ⚠
  • p.Ile404Phe Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile417Met Single submitter ⚠
  • p.Ile435Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile446Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile71Leu Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile71Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile78Thr Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Ile78Val Single submitter ⚠
  • p.Leu102Pro Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu102Val Single submitter encephalopathy due to GLUT1 deficiency ⚠
  • p.Leu109Arg Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu109Phe Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu109Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu122Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu124Val Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠
  • p.Leu152Phe Single submitter GLUT1 deficiency syndrome 1, autosomal recessive ⚠