| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase | |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of alpha-mannosidase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Deficiency of alpha-mannosidase | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Deficiency of alpha-mannosidase | |
| | LOC129391064, MAN2B1 (R462fs +1 more) | Microsatellite (frameshift variant) | Deficiency of alpha-mannosidase | |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase | |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of alpha-mannosidase | |
| | LOC130063650, MAN2B1 (W22*) | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC130063650, MAN2B1 (A7P) | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase | |
| | LOC130063650, MAN2B1 (A3V) | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase | |