Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 17 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene