| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129996727, SLC17A5 (A29T) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC129996727, SLC17A5 (E15*) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene