Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Inversion | Hypertelorism +20 more | |
| | | Complex | Coloboma of optic nerve +15 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene