| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Deficiency of alpha-mannosidase | |
| | LOC129391064, MAN2B1 (Y461* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Deficiency of alpha-mannosidase | |
Click to view in NCBI Gene