NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)Pathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|not provided|Encephalopathy due to GLUT1 deficiency
β
β
ββ2026β Residue 96
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)Pathogenic
Encephalopathy due to GLUT1 deficiency|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Childhood onset GLUT1 deficiency syndrome 2|Inborn genetic diseases
β
β
ββ2026β Residue 126
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)Pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 12|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2|Encephalopathy due to GLUT1 deficiency
β
β
ββ2026β Residue 458
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)Pathogenic
Childhood onset GLUT1 deficiency syndrome 2|not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive
β
β
ββ2026β Residue 275
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)Pathogenic
not provided|GLUT1 deficiency syndrome|Epilepsy, idiopathic generalized, susceptibility to, 12;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Inborn genetic diseases|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|SLC2A1-related disorder
β
β
ββ2025β Residue 333
NM_006516.4(SLC2A1):c.399C>A (p.Cys133Ter)Pathogenic
not provided|Epilepsy, idiopathic generalized, susceptibility to, 12;Dystonia 9;Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2
β
β
ββ2025β Residue 133
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)Pathogenic
not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|Seizure
β
β
ββ2025β Residue 212
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)Pathogenic
Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|not provided|Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2|Childhood onset GLUT1 deficiency syndrome 2|SLC2A1-related disorder
β
β
ββ2025β Residue 333
NM_006516.4(SLC2A1):c.115-2A>CPathogenic
Dystonia 9|not provided|Encephalopathy due to GLUT1 deficiency
β
β
ββ2025
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)Pathogenic
not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Microcephaly;Epilepsy;intellectual deficiency|Encephalopathy due to GLUT1 deficiency|Inborn genetic diseases|Childhood onset GLUT1 deficiency syndrome 2|Hereditary cryohydrocytosis with reduced stomatin;Encephalopathy due to GLUT1 deficiency;Childhood onset GLUT1 deficiency syndrome 2;Dystonia 9
β
β
ββ2025β Residue 330
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)Pathogenic
not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|GLUT1 deficiency syndrome|Intellectual disability
β
β
ββ2025β Residue 295
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)Pathogenic
not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Inborn genetic diseases|Dystonia 9|Encephalopathy due to GLUT1 deficiency
β
β
ββ2025β Residue 400
NM_006516.4(SLC2A1):c.388G>C (p.Gly130Arg)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 130
NM_006516.4(SLC2A1):c.275+1G>CPathogenic
not provided|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive
β
β
ββ2025
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)Pathogenic
Paroxysmal dystonia|GLUT1 deficiency syndrome 1, autosomal recessive|not provided|Encephalopathy due to GLUT1 deficiency
β
β
ββ2025β Residue 134
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe)Likely pathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|not provided
β
β
ββ2025β Residue 215
NM_006516.4(SLC2A1):c.-107G>APathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|not provided
β
β
ββ2025
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)Pathogenic
Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Hereditary cryohydrocytosis with reduced stomatin|Chromosome 17q23.1-q23.2 deletion syndrome|SLC2A1-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 126
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)Pathogenic
GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|not provided
β
β
ββ2025β Residue 329
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)Pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 12|not provided|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency
β
β
ββ2025β Residue 232