| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Indel (frameshift variant) | Arthrogryposis, distal, with impaired proprioception and touch | |
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