| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy due to GLUT1 deficiency +6 more | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | GLUT1 deficiency syndrome 1, autosomal recessive +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Encephalopathy due to GLUT1 deficiency +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Encephalopathy due to GLUT1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GLUT1 deficiency syndrome 1, autosomal recessive +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 9 +7 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Childhood onset GLUT1 deficiency syndrome 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |