| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Insertion (frameshift variant) | Hypohidrotic X-linked ectodermal dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, X-linked, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypohidrotic X-linked ectodermal dysplasia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost) | Hypohidrotic X-linked ectodermal dysplasia | |
Click to view in NCBI Gene