Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Cataract 11 multiple types +1 more | |
| | | Deletion (frameshift variant) | Anterior segment dysgenesis 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cataract 11 multiple types | |
Click to view in NCBI Gene