| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130063650, MAN2B1 (W22*) | Single nucleotide variant (nonsense) | Deficiency of alpha-mannosidase | GPathogenic/Likely pathogenic |
| | LOC130063650, MAN2B1 (W22*) | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC130063650, MAN2B1 (A19fs) | Insertion (frameshift variant) | Deficiency of alpha-mannosidase | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene