| | | Deletion (frameshift variant) | Hamartoma of hypothalamus +5 more | |
| | | Duplication (frameshift variant) | Hamartoma of hypothalamus +5 more | |
| | | Single nucleotide variant (nonsense) | Strabismus +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 13 | |
| | LINC01922, LINC01927
+279 more | Deletion | Nystagmus +10 more | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly +3 more | |
| | LOC125371495, NDUFA13 (L36P) | Single nucleotide variant (missense variant) | Nystagmus +5 more | |
| | | Deletion (frameshift variant) | Nystagmus +5 more | |
| | | Deletion (frameshift variant) | Microcornea +3 more | |
| | | Single nucleotide variant (nonsense) | Autism +4 more | |
| | | Microsatellite (frameshift variant) | Pectus excavatum +4 more | |
| | | Deletion | Spastic ataxia +9 more | |
| | | Single nucleotide variant (missense variant) | Spastic ataxia +9 more | |
| | | Single nucleotide variant (missense variant) | Nystagmus +3 more | |
| | | Single nucleotide variant (missense variant) | Stereotypic movement disorder +22 more | |
| | | Single nucleotide variant (missense variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Nystagmus +8 more | |
| | | Duplication (inframe_insertion +1 more) | Nystagmus +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Polydactyly +2 more | |
| | | Indel (splice donor variant) | Hypertonia +4 more | |
| | | Deletion (frameshift variant) | Hypertelorism +13 more | |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
| | | Copy number loss | Strabismus +6 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial aplasia of the vermis +11 more | GPathogenic/Likely pathogenic |
| | | | Cone-rod dystrophy | |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +5 more | |
| | | Single nucleotide variant (missense variant) | Male infertility due to gonadal dysgenesis or sperm disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency +19 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | High myopia +3 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | COL18A1, SLC19A1 (R1327* +2 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense +2 more) | not provided +1 more | |
| | | Deletion (inframe_deletion) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Translocation | Short philtrum +28 more | |
| | | Translocation | Mild conductive hearing impairment +12 more | |
| | | Translocation | Nystagmus +7 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cerebellar cortical atrophy +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypotonia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | TYR-related condition +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | KCNV2-related condition +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 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) | MKS1-related condition +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | TMEM67-related condition +27 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +14 more | |