| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +2 more | |
| | LOC126862987, SEC23B (A128T +1 more) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +1 more | GConflicting classifications of pathogenicity |
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