| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene