| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Gastrointestinal defects and immunodeficiency syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple gastrointestinal atresias +2 more | |
| | | Duplication (frameshift variant) | not provided +1 more | |
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