| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583
+1753 more | Copy number gain | See cases | |
| | LOC130060786, LOC130060787
+633 more | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Epidermolytic hyperkeratosis 2A, autosomal dominant +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital reticular ichthyosiform erythroderma | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital reticular ichthyosiform erythroderma | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Deletion (splice donor variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Single nucleotide variant (splice donor variant) | Congenital reticular ichthyosiform erythroderma | |
| | | 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 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_indel) | 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 (missense variant) | Ichthyosis hystrix gravior | |
| | | Single nucleotide variant (nonsense) | Epidermolytic hyperkeratosis 2B, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Epidermolytic hyperkeratosis 2B, autosomal recessive | |
| | | Indel (missense variant) | Annular epidermolytic ichthyosis | |
| | KRT10, KRT10-AS1
+1 more (A409T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KRT10, KRT10-AS1
+1 more (Q403H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | KRT10-related disorder | |
| | | Single nucleotide variant (intron variant) | Epidermolytic hyperkeratosis 2B, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | KRT10, KRT10-AS1
+1 more (R333C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KRT10, KRT10-AS1
+1 more (V312A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126862559, KRT10
+1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KRT10, KRT10-AS1
+1 more (V248M) | Single nucleotide variant (missense variant) | not provided | |
| | KRT10, KRT10-AS1
+1 more (R245H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Epidermolytic ichthyosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | Annular epidermolytic ichthyosis | |
| | | Single nucleotide variant (missense variant) | Congenital reticular ichthyosiform erythroderma | |
| | | 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 +2 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) | KRT10-related disorder +5 more | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | KRT10-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 2A, autosomal dominant | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital reticular ichthyosiform erythroderma +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Variation (no sequence alteration) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | Annular epidermolytic ichthyosis +4 more | |