| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (splice donor variant) | Epidermolysis bullosa dystrophica +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa +6 more | |
| | | Deletion (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa pruriginosa +7 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +6 more | |
| | | Single nucleotide variant (missense variant) | COL7A1-related disorder +9 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa dystrophica +9 more | |
| | | Single nucleotide variant (splice donor variant) | Dominant dystrophic epidermolysis bullosa with absence of skin +7 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Duplication (frameshift variant) | See cases +11 more | |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Decreased body weight +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Generalized dominant dystrophic epidermolysis bullosa +8 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dominant dystrophic epidermolysis bullosa with absence of skin +9 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Epidermolysis bullosa pruriginosa +7 more | |
| | | Single nucleotide variant (missense variant) | Transient bullous dermolysis of the newborn +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa pruriginosa +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | COL7A1-related disorder +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +8 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | COL7A1-related disorder +8 more | |
| | | Single nucleotide variant (nonsense) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL7A1-related disorder +9 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Epidermolysis bullosa pruriginosa +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dominant dystrophic epidermolysis bullosa with absence of skin +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic congenital nail disorder 8 +7 more | |
| | | Single nucleotide variant (nonsense) | Transient bullous dermolysis of the newborn +7 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Deletion (frameshift variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +8 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +9 more | |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Generalized dominant dystrophic epidermolysis bullosa +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa pruriginosa +16 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (splice acceptor variant) | Epidermolysis bullosa dystrophica +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +12 more | |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +6 more | |
| | | Deletion (frameshift variant) | Epidermolysis bullosa dystrophica +7 more | |