Links from MedGen
Items: 20
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 31 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Microsatellite (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 | |
| | | Indel (missense variant) | Retinitis pigmentosa 31 | |
| | | Microsatellite (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pigmentary retinopathy +8 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 +4 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 31 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +4 more | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 31 +4 more | |
| | | Duplication (nonsense) | TOPORS-related disorder +1 more | |
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