| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | Mucopolysaccharidosis, MPS-I-S | |
| | | Single nucleotide variant (nonsense +3 more) | Hurler syndrome +1 more | |
| | | Deletion (intron variant) | Hurler syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Hurler syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome | |
| | | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis type 1 +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hurler syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | Hurler syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | Hurler syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene