| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Early-onset generalized limb-onset dystonia +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Arthrogryposis multiplex congenita 5 | |
| | | Microsatellite (frameshift variant) | Arthrogryposis multiplex congenita 5 | |
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