| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | GLUT1 deficiency syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | GLUT1 deficiency syndrome | |
| | | Deletion (inframe_deletion) | Encephalopathy due to GLUT1 deficiency +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene