| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Immunodeficiency 53 | |
| | | Single nucleotide variant (missense variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
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