| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | PMS1-related disorder +1 more | |
| | | Deletion (frameshift variant +1 more) | PMS1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PMS1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PMS1-related disorder | |
Click to view in NCBI Gene