| | | Deletion (frameshift variant) | Delayed speech and language development +2 more | |
| | | Deletion (frameshift variant) | Delayed speech and language development +3 more | |
| | | Microsatellite (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Periventricular leukomalacia +5 more | |
| | | Deletion | Periventricular leukomalacia +5 more | |
| | | Single nucleotide variant (missense variant) | High palate +6 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Strabismus +6 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment and absent language +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | FARS2, LOC126859565 (Y144C) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Laryngeal hypoplasia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Alazami-Yuan syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Attention deficit hyperactivity disorder +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Temtamy syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Abnormal cerebral cortex morphology +5 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Seizure +5 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar cortical atrophy +4 more | |
| | | Single nucleotide variant (nonsense) | Hypertelorism +9 more | |
| | | Single nucleotide variant (missense variant) | Hypertelorism +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +7 more | |
| | | Indel (missense variant +1 more) | Cerebellar vermis atrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar atrophy +5 more | |
| | | Microsatellite (inframe_deletion) | Congenital muscular hypertrophy-cerebral syndrome +6 more | |
| | | Deletion (frameshift variant) | Cerebellar atrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked progressive cerebellar ataxia | |