Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Age-related macular degeneration | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | | Severe early-childhood-onset retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +8 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +7 more | |
| | | Single nucleotide variant (missense variant) | Age-related macular degeneration +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Age-related macular degeneration +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Age-related macular degeneration +1 more | |
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