| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | Congenital adrenal hypoplasia, X-linked +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hypoplasia, X-linked | |
| | | Duplication (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | not provided | |
| | | Indel (missense variant) | 46,XY sex reversal 2 +1 more | |
| | | Indel (missense variant) | 46,XY sex reversal 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hypoplasia, X-linked | |
| | | Insertion | Congenital adrenal hypoplasia, X-linked | |
| | | Deletion | Congenital adrenal hypoplasia, X-linked | |
| | | Duplication | 46,XY sex reversal 2 | |
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