| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Hereditary nonpolyposis colorectal neoplasms +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome 4 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Lynch syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mismatch repair cancer syndrome 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Lynch syndrome | |
| | | Deletion (frameshift variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary nonpolyposis colorectal neoplasms +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +3 more) | Hereditary nonpolyposis colorectal neoplasms +7 more | |
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