| | | Single nucleotide variant (missense variant +1 more) | Dystonic disorder +6 more | |
| | | Single nucleotide variant (missense variant) | Visual impairment +2 more | |
| | | Deletion | Dystonic disorder +4 more | |
| | | Deletion (splice acceptor variant +1 more) | Cerebral palsy +2 more | |
| | | Duplication (frameshift variant) | Visual impairment +7 more | |
| | | Single nucleotide variant (missense variant) | Ventricular septal defect +7 more | |
| | | Duplication (frameshift variant +1 more) | Color vision defect +3 more | |
| | EYS, PHF3 (E2840G +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pigmentary retinopathy +11 more | |
| | | Deletion (frameshift variant) | Visual impairment +4 more | |
| | | Single nucleotide variant | Visual impairment +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GConflicting classifications of pathogenicity |
| | LOC126860392, RP1 (A1792G) | Single nucleotide variant (missense variant) | Retinal pigment epithelial atrophy +3 more | |
| | | Indel (missense variant +1 more) | Cerebellar vermis atrophy +4 more | |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Visual impairment +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Visual impairment +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Translocation | Chin with horizontal crease +26 more | |
| | | Translocation | Male infertility +14 more | |
| | | Translocation | Hypotonia +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Color vision defect +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC102724058, SCN1A (V1601I +5 more) | Single nucleotide variant (missense variant +1 more) | Global developmental delay +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +7 more | GPathogenic/Likely pathogenic |
| | ELP4, PAX6 (K387* +4 more) | Single nucleotide variant (3 prime UTR variant +3 more) | Congenital ocular coloboma +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | TMEM67-Related Disorders +27 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Polydactyly, postaxial, type A1 +5 more | |