| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HGSNAT, LOC130000316 (R6K) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 73 +2 more | |
Click to view in NCBI Gene