| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Cockayne syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | COFS syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | COFS syndrome +4 more | |
| | ERCC6, LOC126860933 (R975Q) | Single nucleotide variant (missense variant) | COFS syndrome +4 more | GConflicting classifications of pathogenicity |
| | ERCC6, LOC126860933 (R947*) | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cockayne syndrome +8 more | |
| | | Single nucleotide variant (nonsense) | Age related macular degeneration 5 +8 more | |
| | | Single nucleotide variant (intron variant) | COFS syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | COFS syndrome +8 more | |
| | | Single nucleotide variant (synonymous variant) | COFS syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Cockayne syndrome +8 more | |
| | | Single nucleotide variant (synonymous variant) | COFS syndrome +8 more | |
Click to view in NCBI Gene