| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | NEB, RIF1 (R8032* +1 more) | Single nucleotide variant (nonsense +1 more) | Nemaline myopathy 2 +6 more | GPathogenic/Likely pathogenic |
| | LOC126806373, NEB (R6515C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Nemaline Myopathy, Recessive +1 more | |
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