| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Deletion (inframe_deletion) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 | |
| | | Duplication (frameshift variant) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Lynch syndrome | |
| | | Duplication (frameshift variant) | Lynch syndrome 5 +2 more | |
Click to view in NCBI Gene