| | | Single nucleotide variant (missense variant) | Seizure +4 more | |
| | | Single nucleotide variant (missense variant) | Seizure +4 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (intron variant) | Motor delay +4 more | |
| | LINC01922, LINC01927 +279 more | Deletion | Nystagmus +10 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Deletion (frameshift variant) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Microsatellite (frameshift variant) | Intellectual disability, severe +3 more | |
| | | Deletion (frameshift variant) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities +4 more | |
| | | Single nucleotide variant (missense variant) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +2 more | |
| | | Duplication (frameshift variant +2 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, severe +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Developmental cataract +17 more | |
| | | Single nucleotide variant (missense variant) | Baralle-Macken syndrome | |
| | | Single nucleotide variant (splice donor variant) | Baralle-Macken syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, severe +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Intellectual disability, severe +3 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal recessive 12 | |
| | | Deletion (frameshift variant) | Intellectual disability, severe | |
| | | Deletion (frameshift variant) | Intellectual disability, severe +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Intellectual disability, severe | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Intellectual disability, severe +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Short stature-brachydactyly-obesity-global developmental delay syndrome +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Renal hypoplasia +14 more | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis syndrome +10 more | |
| | | Copy number loss | Brachydactyly +14 more | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of iodide peroxidase +7 more | |
| | | Deletion (nonsense) | Optic nerve hypoplasia +7 more | |
| | | Single nucleotide variant (missense variant) | Hypertrichosis +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | KCNH1-related disorders +4 more | GPathogenic/Likely pathogenic |
| | | Complex | Setting-sun eye phenomenon +16 more | |
| | | Translocation | Hypoplasia of the frontal lobes +11 more | |
| | | Translocation | Short philtrum +28 more | |
| | | Translocation | Posteriorly placed tongue +17 more | |
| | | Translocation | Intellectual disability, severe +5 more | |
| | | Translocation | Intellectual disability, severe +8 more | |
| | | Inversion | Partial duplication of thumb phalanx +4 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (synonymous variant) | Strabismus +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | KCNQ3-related developmental disability +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Lymphangiomyomatosis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | dystrophia +14 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly +9 more | |
| | | Single nucleotide variant (nonsense) | Progressive myoclonic epilepsy +10 more | |
| | | Deletion (frameshift variant) | Intellectual disability, severe +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +27 more | GPathogenic/Likely pathogenic |