| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Lynch syndrome | |
| | | Duplication (frameshift variant) | Hereditary nonpolyposis colorectal neoplasms +4 more | |
| | | Single nucleotide variant | Lynch syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | Colorectal cancer, hereditary nonpolyposis, type 2 +6 more | |
| | | Indel (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Colorectal cancer, hereditary nonpolyposis, type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Lynch syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Lynch syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Lynch syndrome | |
| | | Microsatellite (inframe_deletion +1 more) | Lynch syndrome | |
| | | Indel (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Lynch syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Lynch syndrome | |
| | | Duplication (frameshift variant +1 more) | Lynch syndrome | |
| | | Indel (nonsense +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Lynch syndrome | |
| | | Deletion | Colorectal cancer, hereditary nonpolyposis, type 2 +1 more | |
| | | Deletion | Mismatch repair cancer syndrome 1 | |