| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC8, ERCC8-AS1 (W49* +1 more) | Duplication (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Abnormality of the nervous system +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene