| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2B +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Multiple endocrine neoplasia, type 1 | |
| | | Single nucleotide variant (nonsense) | Multiple endocrine neoplasia, type 1 +1 more | |
| | | Deletion (frameshift variant) | Calcium nephrolithiasis +6 more | |
Click to view in NCBI Gene