| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +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) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Translocation | Congenital ectopic pupil +26 more | |
| | | Translocation | Attention deficit hyperactivity disorder +14 more | |
| | | Translocation | Hypotonia +15 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Enhanced S-cone syndrome +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Severe early-childhood-onset retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | LOC102724058, SCN1A (V1601I +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | ELP4, PAX6 (K387* +4 more) | Single nucleotide variant (3 prime UTR variant +3 more) | Aniridia 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | TMEM67-related disorder +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Abnormal cardiovascular system morphology +5 more | |