| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (stop lost +1 more) | PCWH syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 4C | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Microsatellite (frameshift variant +1 more) | Waardenburg syndrome type 2E | |
Click to view in NCBI Gene