| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | STAT1-related disorder | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
Click to view in NCBI Gene