| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC6, LOC126860933 (R947Q) | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome +2 more | GConflicting classifications of pathogenicity |
| | PGBD3, ERCC6 (Q566* +1 more) | Single nucleotide variant (nonsense +1 more) | Cerebrooculofacioskeletal syndrome 1 | |
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