Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | SBDS-related disorder +11 more | GPathogenic/Likely pathogenic |
| | | Indel (nonsense) | Shwachman syndrome +4 more | |
Click to view in NCBI Gene