| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Hereditary nonpolyposis colorectal neoplasms +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Lynch syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary nonpolyposis colorectal neoplasms +2 more | |
Click to view in NCBI Gene