| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Indel (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Treacher Collins syndrome 1 | |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene