| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | BIVM-ERCC5, ERCC5 (S278L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | BIVM-ERCC5, ERCC5 (T411M +1 more) | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group G +2 more | GConflicting classifications of pathogenicity |
| | BIVM-ERCC5, ERCC5 (L446P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ERCC5, BIVM-ERCC5 (P524L +1 more) | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | BIVM-ERCC5, ERCC5 (E1044* +1 more) | Single nucleotide variant (nonsense) | not provided | |
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