| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inherited Immunodeficiency Diseases +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Recurrent infections +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene