| | | Single nucleotide variant (missense variant) | Proteasome-associated autoinflammatory syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Pseudo-TORCH syndrome 3 | |
| | | Single nucleotide variant (splice donor variant) | Pseudo-TORCH syndrome 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Systemic lupus erythematosus, susceptibility to, 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| | | Single nucleotide variant (missense variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| | | Single nucleotide variant (missense variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inherited Immunodeficiency Diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| | | 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 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant | Hepatitis C virus infection, response to therapy of | |