| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | CYP17A1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Indel (frameshift variant) | CYP17A1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Insertion (intron variant) | not provided +1 more | |
| | CYP17A1, CYP17A1-AS1 (N226fs) | Duplication (frameshift variant) | CYP17A1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CYP17A1-related disorder +2 more | |
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