| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NEB, RIF1 (R6474* +2 more) | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 6 +3 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis multiplex congenita 6 +1 more | GConflicting classifications of pathogenicity |
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