| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Pituitary hormone deficiency, combined, 2 | |
| | | Deletion (frameshift variant) | Pituitary hormone deficiency, combined, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Pituitary hormone deficiency, combined, 2 +3 more | GPathogenic/Likely pathogenic |
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