| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129391064, MAN2B1 (Q464* +1 more) | Single nucleotide variant (nonsense) | Deficiency of alpha-mannosidase | |
| | LOC129391064, MAN2B1 (Y461* +1 more) | Single nucleotide variant (nonsense) | Deficiency of alpha-mannosidase | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene