| | | Deletion (frameshift variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Duplication (frameshift variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Indel (frameshift variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital reticular ichthyosiform erythroderma | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital reticular ichthyosiform erythroderma | |
| | | Deletion (splice donor variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Single nucleotide variant (splice donor variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma | |
| | | Insertion (frameshift variant) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (nonsense) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (nonsense) | Bullous ichthyosiform erythroderma | |
| | | Indel (missense variant) | Annular epidermolytic ichthyosis | |
| | | Single nucleotide variant (intron variant) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolytic nevus +5 more | |
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma | |