| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1C, localized | |
| | | Deletion (inframe_deletion) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex 1A, generalized severe | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex, Koebner type | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | |
| | | Single nucleotide variant (splice acceptor variant) | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | |
| | | 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) | 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 | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Dermatopathia pigmentosa reticularis | |
| | | Single nucleotide variant (nonsense) | Naegeli-Franceschetti-Jadassohn syndrome | |
| | | Deletion (frameshift variant) | Naegeli-Franceschetti-Jadassohn syndrome | |