| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive multiple pterygium syndrome +1 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication (frameshift variant) | CHRNG-related disorder +3 more | |
Click to view in NCBI Gene