| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MAN2B1, LOC130063648 (L915P +1 more) | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase +2 more | GConflicting classifications of pathogenicity |
| | LOC130063648, MAN2B1 (H901N +1 more) | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase +2 more | |
| | LOC130063648, MAN2B1 (S899* +1 more) | Single nucleotide variant (nonsense) | Deficiency of alpha-mannosidase | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene