| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | Mucopolysaccharidosis, MPS-III-B +4 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 | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-III-B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B +2 more | GPathogenic/Likely pathogenic |
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