| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | UV-sensitive syndrome 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | ERCC8, ERCC8-AS1 (Y100* +1 more) | Single nucleotide variant (nonsense +1 more) | UV-sensitive syndrome 2 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cockayne syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene