| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-III-D | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-III-D | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-III-D +2 more | |
Click to view in NCBI Gene