| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC6, LOC126860933 (R947Q) | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome +2 more | GConflicting classifications of pathogenicity |
| | ERCC6, ERCC6-PGBD3
+1 more (Q566* +1 more) | Single nucleotide variant (nonsense +1 more) | Cerebrooculofacioskeletal syndrome 1 | |
Click to view in NCBI Gene