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