| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ANKRD54, C22orf23 +17 more | Copy number loss | Waardenburg syndrome type 4C | |
| | | Single nucleotide variant (stop lost +1 more) | PCWH syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Waardenburg syndrome type 2E | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene