| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC1, POLR1G (T282A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | ERCC1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ERCC1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ERCC1-related disorder | |
Click to view in NCBI Gene