| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NEB, RIF1 (Y8231* +2 more) | Single nucleotide variant (nonsense) | Nemaline myopathy 2 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Nemaline myopathy 2 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene