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Classification of the identified variants.
| Variant ID | Evidence of pathogenicity | Class |
|---|---|---|
| RHO: p.G51AS | BS1, BS2, BP2 | Likely benign |
| NR2E3: p.R311Q | PS3, PM1, PP5, BS1 | Likely pathogenic |
| RDH12:c.105delG | PVS1, PM1, PM2, PM3, PP1 | Pathogenic |
| IMPG2:p.R964* | PVS1, PM2, PP3, PP5 | Likely pathogenic |
| IMPG2:p.W758* | PVS1, PM2, PP3, PP5 | Likely pathogenic |
