| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis type 6 +1 more | GPathogenic/Likely pathogenic |
| | ARSB, LOC129994126 (V80fs) | Deletion (frameshift variant) | Mucopolysaccharidosis type 6 | |
| | LOC129994126, ARSB (L72Q +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, type vi, severe | |
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