| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Morquio syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Morquio syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene