| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +3 more) | Mucopolysaccharidosis type 1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis, MPS-I-H/S +6 more | |
Click to view in NCBI Gene