| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-III-A | GPathogenic/Likely pathogenic |
| | LOC106050102, IDS (G312S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene