| | RPL17, RPL17-C18orf32 (T113fs +3 more) | Deletion (frameshift variant) | Autism +9 more | |
| | | Single nucleotide variant (nonsense +1 more) | Failure to thrive +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Focal-onset seizure +10 more | |
| | | Single nucleotide variant (nonsense +1 more) | Epicanthus +3 more | |
| | | Single nucleotide variant (missense variant) | Autism +4 more | |
| | | Deletion (frameshift variant) | Blepharophimosis +9 more | |
| | | Deletion (frameshift variant) | Hypertelorism +13 more | |
| | | Copy number gain | Abnormality of the pulmonary veins +8 more | |
| | | Copy number gain | Abnormality of the pulmonary veins +8 more | |
| | | Single nucleotide variant (splice acceptor variant) | Pitt-Hopkins syndrome +7 more | |
| | | Translocation | Congenital ectopic pupil +26 more | |
| | | Translocation | Pectus excavatum +22 more | |
| | | Translocation | Intellectual disability, mild +6 more | |
| | | Translocation | Hypotonia +10 more | |
| | | Inversion | Hypotonia +22 more | |
| | | Translocation | Cryptorchidism +13 more | |
| | | Translocation | Epicanthus +28 more | |
| | | Translocation | Posteriorly placed tongue +17 more | |
| | | Translocation | Cerebral calcification +12 more | |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Translocation | Epicanthus +11 more | |
| | | Inversion | Microcephaly +8 more | |
| | | Translocation | Short philtrum +13 more | |
| | | Translocation | Delayed myelination +13 more | |
| | | Translocation | Abnormality of the outer ear +10 more | |
| | | Translocation | Hypotonia +4 more | |
| | | Translocation | Craniosynostosis syndrome +16 more | |
| | | Translocation | Low-set, posteriorly rotated ears +17 more | |
| | | Complex | Hydrocele testis +10 more | |
| | | Translocation | Clinodactyly of the 5th finger +5 more | |
| | | Translocation | Epicanthus +15 more | |
| | | Single nucleotide variant (nonsense) | Hypertelorism +9 more | |
| | | Single nucleotide variant (missense variant) | Epicanthus +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epicanthus +4 more | |