Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Generalized hypotonia +5 more | |
| | | Duplication (frameshift variant) | Elevated circulating hepatic transaminase concentration +6 more | |
| | | Single nucleotide variant (missense variant) | Choroidal neovascularization +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity; other |
Click to view in NCBI Gene