| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Juvenile polyposis syndrome | |
Click to view in NCBI Gene