| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
Click to view in NCBI Gene