| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Single nucleotide variant (missense variant) | Dermatopathia pigmentosa reticularis +6 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Deletion (inframe_deletion) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Single nucleotide variant (missense variant) | KRT14-related condition +7 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex 1C, localized +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dowling-Degos disease 1 +10 more | |
| | LOC126861526, KRT5 (N193K) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | KRT5, LOC126861525 (G476D) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | KRT5, LOC126861525 (E477K) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1C, localized +3 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Single nucleotide variant (missense variant) | KRT5-related condition +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type +1 more | GPathogenic/Likely pathogenic |