| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806529, PAX3 (T359fs +1 more) | Deletion (frameshift variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
Click to view in NCBI Gene