| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Xeroderma pigmentosum +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Xeroderma pigmentosum group A | |
| | | Microsatellite (frameshift variant +1 more) | Xeroderma pigmentosum group A +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Xeroderma pigmentosum group A +1 more | |
| | | Deletion (frameshift variant +2 more) | Xeroderma pigmentosum group A +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene