| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC1, POLR1G (K259T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ERCC1, POLR1G (T282A +1 more) | Single nucleotide variant (missense variant +1 more) | ERCC1-related condition +2 more | GConflicting classifications of pathogenicity |
| | ERCC1, POLR1G (Q504K +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
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