Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 11, susceptibility to +2 more | GLikely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
Click to view in NCBI Gene