| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Deletion (inframe_deletion +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Microsatellite (splice acceptor variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Deletion (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Congenital myopathy 4B, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Deletion (inframe_deletion +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Microsatellite (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Duplication | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Deletion | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Indel (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +2 more | |
| | | Deletion | Congenital myopathy 4B, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |