| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Xeroderma pigmentosum +2 more | GPathogenic/Likely pathogenic |
| | POLH, POLR1C (K535E +1 more) | Single nucleotide variant (missense variant +2 more) | POLH-related disorder +4 more | |
Click to view in NCBI Gene