| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type ICC | |
| | LOC130068460, MAGT1 (N32D) | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital disorder of glycosylation, type ICC +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
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