Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 48 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 48 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene