| | LOC130060786, LOC130060787
+633 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Duplication (inframe_insertion) | Epidermolytic ichthyosis +4 more | |
| | | Microsatellite (inframe_insertion) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_indel) | not provided | |
| | | Indel | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Indel (inframe_indel) | not provided | |
| | | Indel (inframe_indel) | not provided | |
| | | Indel (inframe_indel) | not specified | |
| | | Indel | not specified | |
| | | Insertion (frameshift variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | Microsatellite (inframe_insertion) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | KRT10, KRT10-AS1
+1 more (V248M) | 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Annular epidermolytic ichthyosis +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided +3 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |