| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (missense variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | STAT1-related condition +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 31B +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | STAT1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 31B +2 more | |
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