| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | BIVM-ERCC5, ERCC5 (D1104H +1 more) | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 3 +3 more | |
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