| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis | |
| | | Microsatellite (inframe_deletion) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis | |
Click to view in NCBI Gene