| View | NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) | Likely Pathogenic | RPE65-related recessive retinopathy | 2024-02-01 | 1.5 | ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0 | RPE65 |
| View | NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) | Likely Pathogenic | RPE65-related recessive retinopathy | 2024-02-01 | 1.4 | ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0 | RPE65 |
| View | NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) | Likely Pathogenic | RPE65-related recessive retinopathy | 2024-02-01 | 1.3 | ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0 | RPE65 |
| View | NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) | Likely Pathogenic | RPE65-related recessive retinopathy | 2024-02-01 | 1.2 | ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0 | RPE65 |
| View | NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) | Likely Pathogenic | RPE65-related recessive retinopathy | 2024-02-01 | 1.1 | ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0 | RPE65 |
| View | NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) | Likely Pathogenic | RPE65-related recessive retinopathy | 2024-02-01 | 1.0 | ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0 | RPE65 |