| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Deficiency of alpha-mannosidase +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Deficiency of alpha-mannosidase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase +2 more | |
| | LOC129391064, MAN2B1 (Y461* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of alpha-mannosidase +2 more | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of alpha-mannosidase +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |