| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Congenital disorder of deglycosylation 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation 1 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene