| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Encephalopathy due to GLUT1 deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | GLUT1 deficiency syndrome 1, autosomal recessive +1 more | |
Click to view in NCBI Gene