| | LOC129935011, LOC129935012 +530 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Nemaline myopathy 9 | |
| | | Deletion (frameshift variant) | Nemaline myopathy 9 | |
| | | Indel (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Duplication (frameshift variant) | Nemaline myopathy 9 | |
| | | Deletion (frameshift variant) | Nemaline myopathy 9 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Indel (inframe_insertion) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Duplication (frameshift variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | 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) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Microsatellite (inframe_deletion) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Nemaline myopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 9 | |