| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | Vertebral anomalies and variable endocrine and T-cell dysfunction | |
| | | Single nucleotide variant (intron variant) | Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more | |
| | | Single nucleotide variant (intron variant) | Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more | |
| | | Single nucleotide variant (intron variant) | Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more | |
| | | Single nucleotide variant (synonymous variant) | Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more | |
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