| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Roberts-SC phocomelia syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Juberg-Hayward syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene