| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC6, LOC126860933 (R961fs) | Insertion (frameshift variant) | Cockayne syndrome type 2 | |
| | ERCC6, LOC126860933 (W949*) | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 | |
| | ERCC6, LOC126860933 (W936*) | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 | |
| | ERCC6, LOC126860933 (Y932*) | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 | |
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