Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Amblyopia +6 more | GConflicting classifications of pathogenicity |
| | | Translocation | Increased overbite +9 more | |
| | | Deletion (frameshift variant) | Nager syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene