| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | GNPTAB-related disorder +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Mucolipidosis type II +1 more | |
| | | Microsatellite (frameshift variant) | Mucolipidosis type II | |
| | | Single nucleotide variant (missense variant) | Pseudo-Hurler polydystrophy | |
Click to view in NCBI Gene