Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Brugada syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 4 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
Click to view in NCBI Gene