| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 | |
| | | Duplication (frameshift variant) | Congenital disorder of deglycosylation 1 | |
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