| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Piebaldism +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor, familial +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mastocytosis +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene