| | | Duplication (nonsense) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (splice acceptor variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (inframe_deletion) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Microsatellite (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | Eichsfeld type congenital muscular dystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (splice donor variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |