| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BIVM-ERCC5, ERCC5
+1 more (D1252Y +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | BIVM-ERCC5, ERCC5
+1 more (D1263fs +1 more) | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene