| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Acrokeratosis verruciformis of Hopf +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Keratosis follicularis +1 more | |
| | | Single nucleotide variant (missense variant) | Keratosis follicularis +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene