| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene