| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | |
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