| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BIVM-ERCC5, ERCC5 (K108fs +1 more) | Deletion (frameshift variant) | Xeroderma pigmentosum, group G | |
| | BIVM-ERCC5, ERCC5 (P1384A +1 more) | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 3 | |
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