| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +2 more) | XPC-related disorder +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Xeroderma pigmentosum, group C +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene