| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Ogna type +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Q +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5B, with muscular dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with nail dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 5C, with pyloric atresia +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Q +4 more | |