| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Beta-D-mannosidosis | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Beta-D-mannosidosis | |
| | | Single nucleotide variant (missense variant) | Beta-D-mannosidosis | |
| | | Single nucleotide variant (splice donor variant) | Beta-D-mannosidosis | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene