SLC2A1

Clinically classified variants

35 reference-table entries with clinical significance.

• rs12718444Benignsingle nucleotide variant
• rs146879902Benignsingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive
• rs2236574Benignsingle nucleotide variantDystonia 9|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|History of neurodevelopmental disorder
• rs4658Benignsingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Dystonia 9
• rs75485205Benignsingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive|History of neurodevelopmental disorder
• rs139492241Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|GLUT1 deficiency syndrome 1, autosomal recessive
• rs141619735Conflicting interpretationssingle nucleotide variantHereditary cryohydrocytosis with reduced stomatin|History of neurodevelopmental disorder|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|Epilepsy, idiopathic generalized, susceptibility to, 12|Hereditary cryohydrocytosis with reduced stomatin|GLUT1 deficiency syndrome 1, autosomal recessive|Epilepsy, idiopathic generalized, susceptibility to, 12
• rs147249343Conflicting interpretationssingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive
• rs148518827Conflicting interpretationssingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|History of neurodevelopmental disorder
• rs150971143Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|GLUT1 deficiency syndrome 1, autosomal recessive
• rs377674001Conflicting interpretationssingle nucleotide variantEncephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive
• rs531385270Conflicting interpretationsDeletionDystonic disorder|GLUT1 deficiency syndrome|GLUT1 deficiency syndrome 1, autosomal recessive
• rs55693364Conflicting interpretationssingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive|Dystonia 9|Encephalopathy due to GLUT1 deficiency
• rs577667739Conflicting interpretationssingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive
• rs587781171Conflicting interpretationssingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive
• rs75852730Conflicting interpretationssingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Hereditary cryohydrocytosis with reduced stomatin|Dystonia 9|Epilepsy, idiopathic generalized, susceptibility to, 12
• rs769943554Conflicting interpretationssingle nucleotide variantDystonia 9|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive
• rs78388808Conflicting interpretationssingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive
• rs148800393Likely benignsingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive
• rs1057518953Pathogenicsingle nucleotide variantParoxysmal dystonia|GLUT1 deficiency syndrome 1, autosomal recessive
• rs121909739Pathogenicsingle nucleotide variantChildhood onset GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Dystonia 9
• rs121909740Pathogenicsingle nucleotide variantChildhood onset GLUT1 deficiency syndrome 2|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive
• rs13306758Pathogenicsingle nucleotide variantEpilepsy, idiopathic generalized, susceptibility to, 12|GLUT1 deficiency syndrome 1, autosomal recessive|Hereditary cryohydrocytosis with reduced stomatin|Dystonia 9|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Epilepsy, idiopathic generalized, susceptibility to, 12
• rs202060209Pathogenicsingle nucleotide variantChildhood onset GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome 1, autosomal recessive|Intellectual disability|Developmental disorder|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2
• rs267607061Pathogenicsingle nucleotide variantChildhood onset GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome 1, autosomal recessive|Seizure|Encephalopathy due to GLUT1 deficiency
• rs387907312Pathogenicsingle nucleotide variantDystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive
• rs794729221Pathogenicsingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Intellectual disability|Childhood onset GLUT1 deficiency syndrome 2
• rs796053253Pathogenicsingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency
• rs796053263Pathogenicsingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive|Inborn genetic diseases
• rs80359816Pathogenicsingle nucleotide variantGLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency
• rs80359818Pathogenicsingle nucleotide variantEncephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|Hereditary cryohydrocytosis with reduced stomatin
• rs80359819Pathogenicsingle nucleotide variant
• rs80359823Pathogenicsingle nucleotide variantEncephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|GLUT1 deficiency syndrome
• rs80359825Pathogenicsingle nucleotide variantGLUT1 deficiency syndrome|History of neurodevelopmental disorder|Epilepsy, idiopathic generalized, susceptibility to, 12|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Hereditary cryohydrocytosis with reduced stomatin|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2
• rs80359841Pathogenicsingle nucleotide variant

Other listed variants

• rs710222
• rs841852
• rs2086856
• rs2297977
• rs3768045
• rs3806400
• rs3820548
• rs59336549
• rs76657494
• rs80359820
• rs80359826
• rs115254313

Public references

• NCBI Gene
• Ensembl
• ClinVar