| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 7 | |
| | LOC126862987, SEC23B (T174P +1 more) | Single nucleotide variant (missense variant) | Cowden syndrome 7 | |
| | | Copy number gain | not provided | |
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