| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | CHRNG-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive multiple pterygium syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Lethal multiple pterygium syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive multiple pterygium syndrome +2 more | |
Click to view in NCBI Gene