| | LOC129933242, LOC129933243 +1631 more | Copy number gain | See cases | |
| | LOC129934199, LOC129934200 +2457 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933677, LOC129933678 +104 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933700, LOC129933701 +9 more | Copy number loss | See cases | |
| | LOC129933705, LOC129933706 +3 more | Deletion | Lynch syndrome | |
| | LOC129933707, LOC129933708 +3 more | Deletion | Lynch syndrome | |
| | | Single nucleotide variant | Lynch syndrome | |
| | | Single nucleotide variant | Lynch syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Lynch syndrome | |
| | | Single nucleotide variant | Lynch syndrome | |
| | LOC129933706, LOC129933707 +2 more | Duplication | Lynch syndrome | |
| | LOC129933707, MSH6 +1 more | Duplication | Lynch syndrome | |
| | LOC129933706, LOC129933707 +2 more | Deletion | Lynch syndrome | |
| | LOC129933707, LOC129933708 +3 more | Deletion | Lynch syndrome | |
| | | Duplication (genic upstream transcript variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant | Lynch syndrome 5 | |
| | | Single nucleotide variant (5 prime UTR variant) | Lynch syndrome 5 | |
| | | Single nucleotide variant (5 prime UTR variant) | Lynch syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Lynch syndrome 5 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Breast and/or ovarian cancer +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Malignant tumor of breast | |
| | | Duplication (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933707, LOC129933708 +1 more | Deletion | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933707, LOC129933708 +1 more | Duplication | Hereditary nonpolyposis colorectal neoplasms | |
| | | Duplication | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933707, LOC129933708 +1 more | Deletion | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933707, LOC129933708 +1 more | Duplication | Hereditary nonpolyposis colorectal neoplasms | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | MSH6-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | LOC129933707, LOC129933708 +1 more | Duplication | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933707, LOC129933708 +1 more | Deletion | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933707, LOC129933708 +1 more | Deletion | Hereditary nonpolyposis colorectal neoplasms | |
| | LOC129933708, LOC129933707 +1 more | Deletion | Hereditary nonpolyposis colorectal neoplasms | |
| | | Deletion | Hereditary nonpolyposis colorectal neoplasms | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant +2 more) | Hereditary cancer-predisposing syndrome | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | LOC129933708, LOC129933707 +1 more | Deletion (splice donor variant +1 more) | Carcinoma of colon | |
| | LOC129933707, LOC129933708 +1 more | Deletion (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | MSH6-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Indel (initiator_codon_variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC129933707, LOC129933708 +1 more | Deletion | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary nonpolyposis colorectal neoplasms | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | Hereditary nonpolyposis colorectal neoplasms | |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome | |