| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 +1 more | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Copy number gain | See cases | |