| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130063650, MAN2B1 (W22*) | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC130063650, MAN2B1 (P21H) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130063650, MAN2B1 (M1V) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of alpha-mannosidase | |
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