| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Decreased body weight +14 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2B +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +7 more | |
Click to view in NCBI Gene