| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis type 7 | GPathogenic/Likely pathogenic |
| | GUSB, LOC126860055 (F306S +3 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis type 7 | |
Click to view in NCBI Gene