| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis type 7 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Non-immune hydrops fetalis +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene