| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | SLC5A1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital glucose-galactose malabsorption | |
| | | Single nucleotide variant (missense variant) | Congenital glucose-galactose malabsorption | |
| | | Deletion (frameshift variant) | Congenital glucose-galactose malabsorption | |
Click to view in NCBI Gene