| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (F288fs +1 more) | Deletion (frameshift variant) | Mucopolysaccharidosis, MPS-II | |
| | IDS, LOC106050102 (H342P +1 more) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-II | |
| | LOC106050102, IDS (H335Y +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Deletion (nonsense +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-II | |
| | LOC106050102, IDS (F155fs +1 more) | Indel (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-II | GPathogenic/Likely pathogenic |
| | | Deletion | Mucopolysaccharidosis, MPS-II | |
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