| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | RIF1, NEB (T8080fs +1 more) | Duplication (frameshift variant +1 more) | Nemaline myopathy 2 | |
| | NEB, RIF1 (R8032* +1 more) | Single nucleotide variant (nonsense +1 more) | NEB-related condition +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene