| | | Single nucleotide variant (nonsense) | Autoinflammation with arthritis and vasculitis | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 114, folate-responsive | |
| | | Deletion (splice acceptor variant +1 more) | Immunodeficiency 106, susceptibility to viral infections | |
| | | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 101 (varicella zoster virus-specific) | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 83, susceptibility to viral infections | |
| | | Single nucleotide variant (missense variant) | Singleton-Merten syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | Immunodeficiency 95 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency 95 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | 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 +2 more) | IRF3-related disorder +1 more | GUncertain significance; risk factor |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (stop lost +1 more) | Pyogenic bacterial infections due to MyD88 deficiency +1 more | |