| | | Single nucleotide variant (stop lost +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myopathy 4B, autosomal recessive | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4A, autosomal dominant +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4B, autosomal recessive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Congenital myopathy 4A, autosomal dominant | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myopathy 4A, autosomal dominant +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 4A, autosomal dominant | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy with fiber type disproportion +2 more | |