| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR 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 (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Nemaline myopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy 4B, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myopathy with fiber type disproportion +1 more | |