| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A +3 more | |
Click to view in NCBI Gene