| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Lynch syndrome 4 +1 more | |
| | | Deletion (frameshift variant +2 more) | Lynch syndrome 4 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | PMS2-related disorder +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene