| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Acrofacial dysostosis Cincinnati type | |
| | POLR1A, LOC126806264 (Q616*) | Single nucleotide variant (nonsense) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene