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