| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129996727, SLC17A5 (R4G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Salla disease +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC129996727, SLC17A5 (V5I) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
Click to view in NCBI Gene