| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC126862987, SEC23B (R123*) | Single nucleotide variant (nonsense +1 more) | Congenital dyserythropoietic anemia, type II +1 more | |
| | LOC126862987, SEC23B (R217* +1 more) | Single nucleotide variant (nonsense) | Cowden syndrome 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +3 more | |
Click to view in NCBI Gene