| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +14 more | |
| | | Deletion (frameshift variant) | Endometrial carcinoma | |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma | |
| | | Microsatellite (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
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