| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BIVM-ERCC5, ERCC5 (R263Q +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group G +2 more | GConflicting classifications of pathogenicity |
| | ERCC5, BIVM-ERCC5 (L977fs +1 more) | Microsatellite (frameshift variant) | Pes cavus +7 more | |
Click to view in NCBI Gene