| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Deletion (splice donor variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +1 more | |
| | | Duplication (frameshift variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +1 more | |
| | | Single nucleotide variant (nonsense) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
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