| | LOC126860392, RP1 (G1948V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | LOC126860392, RP1 (C1918Y) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | LOC126860392, RP1 (G1856A) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | LOC126860392, RP1 (H1851P) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | LOC126860392, RP1 (T1651I) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | LOC126860392, RP1 (A1631S) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Deletion (nonsense +1 more) | Retinal dystrophy | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Deletion (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Duplication (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Deletion (frameshift variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | LOC126860392, RP1 (Q1991E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126860392, RP1 (A1792S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126860392, RP1 (D1777G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |