| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant +1 more) | Sitosterolemia 2 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant) | not provided | |
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