| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GUCY2C, GUCY2C-AS1 (S311F) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, GUCY2C-AS1 (T298M) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GUCY2C, GUCY2C-AS1 (R262*) | Single nucleotide variant (nonsense) | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +1 more | GConflicting classifications of pathogenicity |
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