| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pituitary hormone deficiency, combined, 2 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | 46,XY partial gonadal dysgenesis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pituitary hormone deficiency, combined, 2 | |
| | | Deletion (frameshift variant) | Pituitary hormone deficiency, combined, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Pituitary hormone deficiency, combined, 2 +1 more | |
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