| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Colorectal cancer, hereditary nonpolyposis, type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
Click to view in NCBI Gene