| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | IDS, LOC106050102 (M301fs +1 more) | Deletion (frameshift variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (S333L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | IDS, LOC106050102 (A160T +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (S111fs +1 more) | Microsatellite (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-II | GPathogenic/Likely pathogenic |
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