| | | Deletion (frameshift variant +1 more) | Incontinentia pigmenti syndrome | |
| | | Deletion (frameshift variant +1 more) | Incontinentia pigmenti syndrome | |
| | HCFC1-AS1, IDH3G
+200 more | Deletion | Ectodermal dysplasia and immunodeficiency 1 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autoinflammatory disease, X-linked +3 more | |
| | | Deletion | Incontinentia pigmenti syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Incontinentia pigmenti syndrome | |
| | | Single nucleotide variant (splice donor variant) | Incontinentia pigmenti syndrome +1 more | |
| | | Deletion | Incontinentia pigmenti syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 +4 more | |
| | | Single nucleotide variant (intron variant) | IMMUNODEFICIENCY 33, MALE-RESTRICTED +1 more | |
| | | Duplication (splice acceptor variant +1 more) | Incontinentia pigmenti syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant +1 more) | Incontinentia pigmenti syndrome +3 more | |
| | | Duplication (frameshift variant +1 more) | Incontinentia pigmenti syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Incontinentia pigmenti syndrome | |
| | | Single nucleotide variant (stop lost +1 more) | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion | Incontinentia pigmenti syndrome | |