| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ichthyosis, hystrix-like, with hearing loss +15 more | |
| | | Single nucleotide variant (missense variant) | X-linked mixed hearing loss with perilymphatic gusher | |
Click to view in NCBI Gene