| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129996517, POLR1C (R22H) | Single nucleotide variant (missense variant) | Treacher Collins syndrome 3 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Treacher Collins syndrome 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 3 +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 11 +2 more | |
| | POLR1C, POLH (T354M +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Primary ciliary dyskinesia 12 +1 more | |
| | POLR1C, RSPH9 (K268del +1 more) | Microsatellite (inframe_deletion) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 +3 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 +3 more | |
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