| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (no sequence alteration) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 5 +6 more | |
| | | Microsatellite (splice donor variant) | Nemaline myopathy 5 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene