| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 1 | |
| | | Duplication (frameshift variant) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| | | Single nucleotide variant (missense variant) | Pituitary hormone deficiency, combined, 1 | |
| | | Single nucleotide variant (missense variant) | Axenfeld-Rieger syndrome type 1 | |
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