| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cockayne syndrome +7 more | |
| | ERCC4, LOC130058543 (L27F) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group F +4 more | |
| | ERCC4, LOC130058543 (V59E) | Single nucleotide variant (missense variant) | not specified | |
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