| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group D +5 more | |
| | | Single nucleotide variant (missense variant) | Trichothiodystrophy | |
| | | Single nucleotide variant (missense variant) | ERCC2-Related Disorders +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | ERCC2-Related Disorders +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene