| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Decreased response to growth hormone stimulation test +1 more | |
| | | Single nucleotide variant (splice donor variant) | Decreased response to growth hormone stimulation test | |
| | | Single nucleotide variant (missense variant) | Isolated growth hormone deficiency, type 5 +1 more | |
Click to view in NCBI Gene