| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sialic acid storage disease, severe infantile type +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Salla disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Salla disease +2 more | |
Click to view in NCBI Gene