| | | Single nucleotide variant (missense variant +1 more) | Cognitive impairment +5 more | |
| | | Single nucleotide variant (missense variant) | Cognitive impairment +5 more | |
| | | Single nucleotide variant (nonsense) | Strabismus +6 more | |
| | | Copy number gain | Strabismus +2 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stenosis of the external auditory canal +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | |
| | | Deletion | Neurodevelopmental delay +7 more | |
| | | Deletion | Global developmental delay +8 more | |
| | | Microsatellite (frameshift variant) | Childhood onset GLUT1 deficiency syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Pointed chin +14 more | |
| | | Single nucleotide variant (intron variant) | Abnormal facial shape +19 more | |
| | | Single nucleotide variant (nonsense +1 more) | Delayed speech and language development +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Sensorineural hearing loss disorder +20 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +14 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Visual impairment +7 more | |
| | | Deletion (frameshift variant) | Motor delay +3 more | |
| | | Deletion (frameshift variant) | Microcephaly +16 more | |
| | | Single nucleotide variant (missense variant) | Strabismus +2 more | |
| | | Single nucleotide variant (missense variant) | Astigmatism +12 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Abnormality of the pulmonary veins +8 more | |
| | | Copy number gain | Abnormality of the pulmonary veins +8 more | |
| | | Copy number gain | Astigmatism +12 more | |
| | | Copy number loss | Strabismus +6 more | |
| | | Copy number loss | Brachydactyly +14 more | |
| | | Copy number gain | Autism +7 more | |
| | | Single nucleotide variant (nonsense) | Rett syndrome, congenital variant | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +6 more | |
| | | Single nucleotide variant (missense variant) | High palate +6 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment and absent language +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Lamb-Shaffer syndrome +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 | |
| | | Translocation | Delayed speech and language development +19 more | |
| | | Translocation | Delayed speech and language development +15 more | |
| | | Translocation | Axial hypotonia +7 more | |
| | | Translocation | Dolichocephaly +11 more | |
| | | Inversion | Protruding tongue +7 more | |
| | | Translocation | Cryptorchidism +12 more | |
| | | Inversion | Cardiac arrhythmia +12 more | |
| | | Translocation | Craniosynostosis syndrome +16 more | |
| | | Translocation | Low-set, posteriorly rotated ears +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypotonia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental Disability +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Strabismus +4 more | |
| | | Translocation | Hypertelorism +13 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cerebral palsy +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 9 +12 more | |
| | | Single nucleotide variant (nonsense) | Early infantile epileptic encephalopathy with suppression bursts +10 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
| | | Duplication (frameshift variant) | Troyer syndrome | |
| | | Duplication (inframe_insertion) | Pulmonic stenosis +28 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +9 more | |