| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +5 more | |
| | | Single nucleotide variant (missense variant) | Dystonia 9 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +5 more | |
| | | Single nucleotide variant (nonsense) | Encephalopathy due to GLUT1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Encephalopathy due to GLUT1 deficiency | |
| | | Single nucleotide variant (missense variant) | Encephalopathy due to GLUT1 deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Childhood onset GLUT1 deficiency syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Encephalopathy due to GLUT1 deficiency +5 more | |
Click to view in NCBI Gene