Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Color vision defect | |
| | | Single nucleotide variant (missense variant) | Febrile seizure (within the age range of 3 months to 6 years) +2 more | |
| | | Single nucleotide variant (splice donor variant) | Duchenne muscular dystrophy | |
| | | Duplication (frameshift variant +1 more) | Retinal dystrophy +3 more | |
| | EYS, PHF3 (E2840G +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Astigmatism +11 more | |
| | | Single nucleotide variant (splice acceptor variant) | NR2E3-related disorder +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Achromatopsia 2 +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene