| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Mucolipidosis type II +1 more | |
| | | Single nucleotide variant (splice donor variant) | Mucolipidosis +3 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Mucolipidosis type II +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Pseudo-Hurler polydystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Pseudo-Hurler polydystrophy | |
| | | Single nucleotide variant (missense variant) | Pseudo-Hurler polydystrophy | |
| | | Single nucleotide variant (nonsense) | Mucolipidosis +2 more | |
| | | Single nucleotide variant (intron variant) | Pseudo-Hurler polydystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Mucolipidosis type II +1 more | |
| | | Deletion (frameshift variant) | Mucolipidosis type II +1 more | |
Click to view in NCBI Gene