| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ERCC5, BIVM-ERCC5 (R263Q +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | ERCC5, BIVM-ERCC5 (L977fs +1 more) | Microsatellite (frameshift variant) | Cognitive impairment +7 more | |
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