| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (nonsense) | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | |
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