| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| SLC2A1 | 138140 | 606777 | 1p34.2 | c. 1454 C>T (p.Pro485Leu) | | GLUT1 DEFICIENCY SYNDROME 1 | 2 |
| SLC2A1 | 138140 | 606777 | 1p34.2 | c.1372C>T (p.Arg458Trp) | 0021 | GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 | 2 |
| SLC2A1 | 138140 | 606777 | 1p34.2 | c.195G>A (p.W65*) | | GLUT1 DEFICIENCY SYNDROME 1 | 1 |
| SLC2A1 | 138140 | 606777 | 1p34.2 | c.628_629delAG (p.Arg212Leufs*24) | | GLUT1 DEFICIENCY SYNDROME 1 | 1 |
| SLC2A1 | 138140 | 606777 | 1p34.2 | c.635G>A (p.Arg212His) | | GLUT1 DEFICIENCY SYNDROME 1 | 1 |
| SLC2A1 | 138140 | 606777 | 1p34.2 | c.653G>A (p.Arg218His) | | GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 | 2 |
| SLC2A1 | 138140 | 606777 | 1p34.2 | c.680-11G>A | | GLUT1 DEFICIENCY SYNDROME 1 | 1 |