| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | C17orf47, CCDC182
+168 more | Copy number loss | See cases | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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