| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090233, LOC132090234 +264 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GPHB5, LOC112268140 +29 more | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (genic upstream transcript variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (genic upstream transcript variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (5 prime UTR variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (5 prime UTR variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (5 prime UTR variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (5 prime UTR variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (5 prime UTR 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 (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 (missense variant) | SYNE2-related disorder +1 more | |
| | | 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) | See cases | |
| | | 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 +1 more | |
| | | 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 | |
| | | 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 (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 +1 more | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more | |
| | | 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 (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | 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 (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 +1 more | |
| | | 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 (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) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Single nucleotide variant (splice acceptor variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | |
| | | Deletion (frameshift 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) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | 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 +1 more | |
| | | 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) | not specified +2 more | |