Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Astigmatism +8 more | |
| | | Single nucleotide variant (missense variant) | Meier-Gorlin syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +19 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense) | Mandibuloacral dysplasia progeroid syndrome +10 more | |
Click to view in NCBI Gene