| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type IIw +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Glycogen storage disease, type I +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene