| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Xeroderma pigmentosum group A +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Xeroderma pigmentosum +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Xeroderma pigmentosum group A +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene