| | | Single nucleotide variant (splice donor variant) | Epidermolysis bullosa pruriginosa +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Epidermolysis bullosa dystrophica +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa dystrophica +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | COL7A1-related disorder +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Duplication (frameshift variant) | Pretibial dystrophic epidermolysis bullosa +11 more | |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa dystrophica +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa pruriginosa +22 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Generalized dominant dystrophic epidermolysis bullosa +3 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa +8 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Pretibial dystrophic epidermolysis bullosa +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Recessive dystrophic epidermolysis bullosa +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Insertion (frameshift variant) | Epidermolysis bullosa dystrophica +3 more | |
| | | Single nucleotide variant (nonsense) | COL7A1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Recessive dystrophic epidermolysis bullosa +3 more | |
| | | Indel (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa pruriginosa +8 more | |
| | | Single nucleotide variant (nonsense) | Scarring +16 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa dystrophica +2 more | |
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Insertion (frameshift variant) | Generalized dominant dystrophic epidermolysis bullosa +4 more | |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Recessive dystrophic epidermolysis bullosa +7 more | |