Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Lymphatic malformation 12 | |
| | | Deletion (nonsense) | Lymphatic malformation 12 | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 12 | |
| | | Duplication (frameshift variant) | MDFIC-related disorder +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene