Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Vitelliform macular dystrophy 4 | |
| | | Deletion (frameshift variant) | Vitelliform macular dystrophy 4 | |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 4 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Vitelliform macular dystrophy 4 | |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Vitelliform macular dystrophy 4 | |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 4 | |
Click to view in NCBI Gene