| | | Deletion (frameshift variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Indel (frameshift variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 2A, autosomal dominant | |
| | | Insertion (frameshift variant) | Epidermolytic hyperkeratosis 2B, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 1 | |
| | | Single nucleotide variant (nonsense) | Epidermolytic hyperkeratosis 2B, autosomal recessive | |
| | | Indel (nonsense) | not provided | |
| | | Indel (missense variant) | Annular epidermolytic ichthyosis | |
| | KRT10-AS1, LOC126862559
+1 more | Single nucleotide variant (intron variant) | Epidermolytic hyperkeratosis 2B, autosomal recessive | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 2A, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 2A, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 2A, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Annular epidermolytic ichthyosis +5 more | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 2A, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 2A, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis +3 more | |