| | BLOC1S1-RDH5, CD63
+1 more (G238W) | Single nucleotide variant (non-coding transcript variant +1 more) | Pigmentary retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | TRPM1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Congenital stationary night blindness 1C +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Congenital stationary night blindness | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital stationary night blindness | |
| | | Single nucleotide variant (missense variant) | Congenital stationary night blindness | |
| | | Single nucleotide variant (missense variant) | Congenital stationary night blindness | |
| | | Microsatellite (frameshift variant) | Congenital stationary night blindness | |
| | | Duplication (frameshift variant) | Congenital stationary night blindness | |
| | | Single nucleotide variant (missense variant) | Congenital stationary night blindness | |
| | | Single nucleotide variant (intron variant) | Congenital stationary night blindness | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital stationary night blindness +1 more | |
| | | Deletion (frameshift variant) | Congenital stationary night blindness | |
| | | Single nucleotide variant (nonsense) | Congenital stationary night blindness +2 more | |
| | | Single nucleotide variant (nonsense) | Congenital stationary night blindness | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Congenital stationary night blindness | |