| | | Duplication | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Duplication | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Deletion | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Duplication (frameshift variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Microsatellite (inframe_insertion +1 more) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epidermolysis bullosa simplex, Ogna type +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex with nail dystrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex with nail dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex with nail dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Microsatellite (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Duplication (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (intron variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Deletion (inframe_deletion) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |