| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Deletion (nonsense +2 more) | Mucopolysaccharidosis, MPS-III-A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Parkinson disease 14 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene