| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Muir-Torré syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome | |
| | | Deletion (splice donor variant) | Lynch syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Colorectal cancer, hereditary nonpolyposis, type 2 +5 more | |
| | | Insertion (intron variant) | Breast carcinoma +4 more | |
| | | Microsatellite (inframe_deletion) | not specified +4 more | |
| | | Duplication (frameshift variant) | Lynch syndrome | |
| | | Indel (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene