| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome +2 more | |
| | | Duplication (frameshift variant +1 more) | Mucopolysaccharidosis type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene