| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 3, myogenic type +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive ataxia, Beauce type | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more | |
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