| | | Copy number gain | See cases | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Constitutional megaloblastic anemia with severe neurologic disease +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +3 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | not provided +3 more | |
| | | Insertion (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Constitutional megaloblastic anemia with severe neurologic disease +3 more | |
| | | Duplication (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | not provided +2 more | |
| | | Deletion (5 prime UTR variant +2 more) | not provided +3 more | |
| | | Duplication (5 prime UTR variant +2 more) | Endometrial carcinoma +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial adenomatous polyposis 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Familial adenomatous polyposis 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | MSH3-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Familial adenomatous polyposis 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Endometrial carcinoma +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Microsatellite (frameshift variant) | Familial adenomatous polyposis 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MSH3-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |