| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Squalene synthase deficiency | |
| | | Single nucleotide variant (missense variant) | Squalene synthase deficiency | |
| | DEFB130A, DEFB134
+75 more | Copy number gain | not provided | |
| | | Copy number loss | Tetralogy of Fallot | |
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