| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NEB, RIF1 (T8491M +2 more) | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | NEB, RIF1 (R8032* +1 more) | Single nucleotide variant (nonsense +1 more) | Nemaline myopathy +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene