| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC6, LOC126860933 (R947*) | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +7 more | |
| | | Single nucleotide variant (splice donor variant) | Cerebrooculofacioskeletal syndrome 1 +2 more | |
Click to view in NCBI Gene