| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ichthyosis linearis circumflexa | |
| | | Single nucleotide variant (nonsense) | Netherton syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Netherton syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ichthyosis linearis circumflexa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Susceptibility to nonsyndromic otitis media | |
| | | Single nucleotide variant (missense variant) | Susceptibility to nonsyndromic otitis media | |
| | | Single nucleotide variant (3 prime UTR variant) | Susceptibility to nonsyndromic otitis media | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Susceptibility to nonsyndromic otitis media | |
| | | Single nucleotide variant (missense variant) | Susceptibility to nonsyndromic otitis media | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Susceptibility to nonsyndromic otitis media | |
| | | Single nucleotide variant (missense variant) | not provided | |
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