| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +2 more) | Mucopolysaccharidosis, MPS-I-S +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene