| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lethal arthrogryposis-anterior horn cell disease syndrome +2 more | |
Click to view in NCBI Gene