| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +3 more) | Mucopolysaccharidosis +7 more | |
| | | Single nucleotide variant (missense variant +3 more) | Mucopolysaccharidosis type 1 | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hurler syndrome +5 more | |
| | | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis type 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis type 1 +4 more | |
| | | Single nucleotide variant (stop lost +1 more) | Mucopolysaccharidosis type 1 | |
Click to view in NCBI Gene