| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SLC5A2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SLC5A2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | SLC5A2-related disorder +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene