| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene