| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (genic downstream transcript variant) | Familial adenomatous polyposis 2 | |
| | | Microsatellite (inframe_deletion +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Gastric cancer +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Diffuse midline glioma, H3 K27-altered +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Familial colorectal cancer +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Gastric cancer +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene