| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Generalized dominant dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | COL7A1-related condition +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | COL7A1-related condition +4 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (intron variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (intron variant) | Recessive dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | Generalized dominant dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (intron variant) | Recessive dystrophic epidermolysis bullosa | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |