| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +3 more | |
| | LOC126862987, SEC23B (Q196* +1 more) | Single nucleotide variant (nonsense) | Congenital dyserythropoietic anemia, type II +2 more | |
Click to view in NCBI Gene