| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | C17orf47, CCDC182 +168 more | Copy number loss | See cases | |
| | | Deletion | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Copy number loss | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion | Neurodevelopmental delay +1 more | |
| | | Deletion | Neurodevelopmental delay +1 more | |
| | | Copy number loss | See cases | |
| | | Duplication | Meckel-Gruber syndrome +1 more | |
| | | Copy number loss | not provided | |
| | ALOX12, ALOX12B +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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