| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | GNPTG-mucolipidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GNPTG-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene