| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +2 more | |
| | | Single nucleotide variant (splice donor variant) | Dermatitis, atopic, 2 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene