| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | POLR1C-Related Disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 3 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene