| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Microsatellite (frameshift variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Microsatellite (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Deletion (splice donor variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Indel (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (nonsense) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Deletion (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Microsatellite (inframe_deletion) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Duplication (nonsense +1 more) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Duplication (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |