Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Craniofacial anomalies and anterior segment dysgenesis syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Keratoconus 1 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Keratoconus 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
Click to view in NCBI Gene