| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (inframe_insertion) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B | |
| | LOC130060903, NAGLU (A34P) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B | |
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