| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Decreased response to growth hormone stimulation test +1 more | |
| | | Deletion (frameshift variant) | Isolated growth hormone deficiency, type 5 | |
| | | Single nucleotide variant (missense variant) | Isolated growth hormone deficiency, type 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated growth hormone deficiency, type 5 | |
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