| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | POLH, POLR1C (R167* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | POLH, POLR1C (G209V +1 more) | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum variant type +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | POLH, POLR1C (M595V +1 more) | Single nucleotide variant (missense variant +2 more) | Xeroderma pigmentosum variant type +2 more | |
| | POLH, POLR1C (M647L +1 more) | Single nucleotide variant (missense variant +2 more) | Xeroderma pigmentosum variant type +2 more | |
Click to view in NCBI Gene