| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NEB, RIF1 (I5611fs +2 more) | Deletion (frameshift variant) | Arthrogryposis multiplex congenita 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis multiplex congenita 6 | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | GConflicting classifications of pathogenicity |
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