Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Barrett esophagus | |
| | | Single nucleotide variant (missense variant) | Barrett esophagus | |
| | | Single nucleotide variant (nonsense +2 more) | Barrett esophagus | |
| | | Single nucleotide variant (nonsense) | X-linked Alport syndrome +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene