Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 17 | |
| | | Single nucleotide variant (missense variant +1 more) | CA4-related condition +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene