| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NEB, RIF1 (T8491M +2 more) | Single nucleotide variant (missense variant) | Nemaline myopathy 2 +5 more | GConflicting classifications of pathogenicity |
| | NEB, RIF1 (R8032* +1 more) | Single nucleotide variant (nonsense +1 more) | NEB-related disorder +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 2 +2 more | |
Click to view in NCBI Gene