| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene