| | CERKL, ITGA4 (S412C +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Retinal dystrophy | |
| | ITGA4, CERKL (G454fs +4 more) | Duplication (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CERKL, ITGA4 (Y409D +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Indel (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 26 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (splice donor variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +2 more | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Retinal dystrophy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (intron variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Retinitis pigmentosa 26 | |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa 26 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion | Retinal dystrophy | |