| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GUSB, LOC126860055 (W507* +3 more) | Single nucleotide variant (nonsense +1 more) | Mucopolysaccharidosis type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis type 7 | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene