| | | Single nucleotide variant (nonsense) | Recessive dystrophic epidermolysis bullosa +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Recessive dystrophic epidermolysis bullosa +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Generalized dominant dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | Generalized dominant dystrophic epidermolysis bullosa +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Nonsyndromic congenital nail disorder 8 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +8 more | |
| | | Single nucleotide variant (nonsense) | Nonsyndromic congenital nail disorder 8 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Nonsyndromic congenital nail disorder 8 +7 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic congenital nail disorder 8 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Nonsyndromic congenital nail disorder 8 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +6 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +6 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +8 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa dystrophica +8 more | |
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Transient bullous dermolysis of the newborn +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa +2 more | |
| | | Single nucleotide variant (missense variant) | Dominant dystrophic epidermolysis bullosa with absence of skin +9 more | |
| | | Single nucleotide variant (synonymous variant) | Dominant dystrophic epidermolysis bullosa with absence of skin +9 more | |
| | | Single nucleotide variant (missense variant) | Dominant dystrophic epidermolysis bullosa with absence of skin +9 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa dystrophica +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Pretibial dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa pruriginosa +7 more | |
| | | Single nucleotide variant (nonsense) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Generalized dominant dystrophic epidermolysis bullosa +7 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa pruriginosa +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa pruriginosa +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (nonsense) | not provided +16 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa pruriginosa +7 more | |
| | | Duplication (frameshift variant) | Generalized dominant dystrophic epidermolysis bullosa +12 more | |
| | | Indel (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa pruriginosa +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +7 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (splice acceptor variant) | Recessive dystrophic epidermolysis bullosa +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa pruriginosa +12 more | |
| | | Single nucleotide variant (missense variant) | COL7A1-related condition +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Duane retraction syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | COL7A1-related condition +8 more | |
| | | Single nucleotide variant (missense variant) | COL7A1-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Pretibial dystrophic epidermolysis bullosa | |
| | | Duplication (frameshift variant) | COL7A1-related condition +8 more | |