| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Arthrogryposis, distal, type 1A | |
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 7 | |
| | | Duplication (frameshift variant) | Lethal congenital contracture syndrome 7 | |
Click to view in NCBI Gene