| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | POLH, POLR1C (S213* +1 more) | Single nucleotide variant (nonsense +1 more) | Xeroderma pigmentosum variant type +1 more | GPathogenic/Likely pathogenic |
| | POLH, POLR1C (T284fs +1 more) | Deletion (frameshift variant +1 more) | POLH-related condition +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene