| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SEC23B-related disorder +1 more | GConflicting classifications of pathogenicity |
| | LOC126862987, SEC23B (T174P +1 more) | Single nucleotide variant (missense variant) | Cowden syndrome 7 | |
Click to view in NCBI Gene