| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | IDS, LOC106050102 (P293fs +1 more) | Deletion (frameshift variant) | not provided | |
| | IDS, LOC106050102 (A338D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | IDS, LOC106050102 (S333L +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +1 more | |
| | IDS, LOC106050102 (T309A +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +2 more | |
| | | Insertion (nonsense +1 more) | not provided | |
| | IDS, LOC106050102 (P231fs +1 more) | Insertion (frameshift variant +1 more) | not provided | |
| | IDS, LOC106050102 (T214M +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II +3 more | GConflicting classifications of pathogenicity |
| | IDS, LOC106050102 (K109fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | IDS, LOC106050102 (L196S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | IDS, LOC106050102 (P160H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +3 more | |
| | | Duplication (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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