| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Duplication (frameshift variant +1 more) | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Inversion (missense variant) | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +4 more | |
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