| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +2 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | KRT5, LOC126861525 (E477K) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1C, localized +3 more | |
| | KRT5, LOC126861525 (R471C) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | KRT5, LOC126861525 (A415V) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | KRT5, LOC126861525 (G373A) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | KRT5, LOC126861526 (V211M) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dowling-Degos disease 1 +10 more | |
| | KRT5, LOC126861526 (D197E) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +2 more | |
| | KRT5, LOC126861526 (R187Q) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | KRT5-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | KRT5-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex +1 more | |
| | | Single nucleotide variant (synonymous variant) | KRT5-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (5 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (5 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant (5 prime UTR variant) | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant | Epidermolysis bullosa simplex | |
| | | Single nucleotide variant | Epidermolysis bullosa simplex | |