| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis, distal, with impaired proprioception and touch | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch | |
Click to view in NCBI Gene