Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Translocation | Myopia +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +9 more | |
Click to view in NCBI Gene