Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 10 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 10 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 10 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (stop lost) | Leber congenital amaurosis 11 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 10 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 11 +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 10 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
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