| | | Single nucleotide variant (missense variant) | Acrofacial dysostosis Cincinnati type +1 more | |
| | | Deletion (frameshift variant) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (missense variant) | Acrofacial dysostosis Cincinnati type | |
| | POLR1A, LOC126806264 (Q616*) | Single nucleotide variant (nonsense) | Acrofacial dysostosis Cincinnati type | |
| | | Duplication (intron variant) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Acrofacial dysostosis Cincinnati type +1 more | |
| | | Single nucleotide variant (splice donor variant) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (missense variant) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (missense variant) | Acrofacial dysostosis Cincinnati type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Acrofacial dysostosis Cincinnati type | |
| | LOC126806264, POLR1A (E593Q) | Single nucleotide variant (missense variant) | Acrofacial dysostosis Cincinnati type | |