| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NEB, RIF1 (R6499C +2 more) | Single nucleotide variant (missense variant) | Nemaline myopathy 2 | |
| | NEB, RIF1 (P6320fs +2 more) | Deletion (frameshift variant) | not provided +6 more | |
| | NEB, RIF1 (R8187* +2 more) | Single nucleotide variant (nonsense) | Nemaline myopathy 2 +3 more | GPathogenic/Likely pathogenic |
| | NEB, RIF1 (T8111fs +1 more) | Duplication (frameshift variant +1 more) | Nemaline myopathy 2 | |
| | | Single nucleotide variant (intron variant) | Nemaline myopathy 2 | |
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