| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Treacher Collins syndrome 1 | |
| | LOC129994985, TCOF1 (H17R) | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene