| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +6 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Arthrogryposis, distal, with impaired proprioception and touch | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis, distal, with impaired proprioception and touch | |
| | | Indel (frameshift variant) | Arthrogryposis, distal, with impaired proprioception and touch | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 1 +1 more | |
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