| | | Single nucleotide variant (missense variant +1 more) | IKBKG-related condition +1 more | |
| | | Deletion | Immunodeficiency 33 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autoinflammatory disease, X-linked +3 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 33 +1 more | |
| | LOC108281126, G6PD +1 more (G43R) | Single nucleotide variant (missense variant +1 more) | Autoinflammatory disease, X-linked +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Duplication (frameshift variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Duplication | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |