| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia 45 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Hereditary diffuse gastric adenocarcinoma +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene