| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Lethal multiple pterygium syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal multiple pterygium syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal multiple pterygium syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Scoliosis +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene