| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | NEB, RIF1 (R5910* +2 more) | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 6 +3 more | |
| | NEB, RIF1 (S7492T +2 more) | Single nucleotide variant (missense variant) | Nemaline myopathy 2 +1 more | GConflicting classifications of pathogenicity |
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