| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | ERCC6-related disorder | |
| | | Deletion (splice donor variant) | ERCC6-related disorder | |
| | | Single nucleotide variant (intron variant) | Cockayne syndrome type 2 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Cockayne syndrome type 2 | |
Click to view in NCBI Gene