| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Duplication (frameshift variant) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| | | Single nucleotide variant (nonsense) | Isolated growth hormone deficiency, type 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | McCune-Albright syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Pituitary hormone deficiency, combined, 1 | |
| | GLA, RPL36A-HNRNPH2 (V334L) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | | Indel | Tangier disease | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Deletion (splice donor variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | |
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