| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GUSB, LOC126860055 (N502K +3 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 7 | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 7 +1 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant +3 more) | Mucopolysaccharidosis type 7 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 7 | |
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