| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +3 more | |
| | | Deletion (splice acceptor variant +1 more) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Muir-Torré syndrome +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Microsatellite (frameshift variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Deletion (frameshift variant +1 more) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | GConflicting classifications of pathogenicity |
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