| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BIVM-ERCC5, ERCC5 (D1011N +1 more) | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 3 +1 more | |
| | BIVM-ERCC5, ERCC5 (P867L +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group G +1 more | |
| | ERCC5, BIVM-ERCC5 (L1377fs +1 more) | Duplication (frameshift variant) | Cerebrooculofacioskeletal syndrome 3 | |
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