| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more | GConflicting classifications of pathogenicity |
| | ABHD11, ABHD11-AS1
+44 more | Copy number loss | Williams syndrome | |
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