| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130003079, MAN1B1 (E58*) | Single nucleotide variant (nonsense +1 more) | Rafiq syndrome +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Rafiq syndrome | |
| | | Deletion (frameshift variant +1 more) | Rafiq syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Rafiq syndrome | |
| | | Deletion (frameshift variant +1 more) | Rafiq syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MAN1B1-Related Disorders +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Rafiq syndrome | |
| | | Deletion (frameshift variant +1 more) | Rafiq syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Rafiq syndrome | |
| | | Deletion (splice donor variant) | Rafiq syndrome | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +1 more | |
Click to view in NCBI Gene