| | ATP5PO, LOC130066573 (Q12*) | Single nucleotide variant (nonsense) | Severe global developmental delay +3 more | |
| | | Single nucleotide variant (intron variant) | Severe global developmental delay +3 more | |
| | | Deletion | Delayed speech and language development +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly +9 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and seizures | |
| | LOC125371495, NDUFA13 (L36P) | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +5 more | |
| | | Deletion (frameshift variant) | Hypertrophic cardiomyopathy +5 more | |
| | | Single nucleotide variant (nonsense) | Failure to thrive +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system +9 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Severe global developmental delay +4 more | |
| | | Deletion (inframe_deletion) | Autistic behavior +3 more | |
| | | Copy number loss | Autistic behavior +1 more | |
| | | Copy number loss | Autistic behavior +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +9 more | |
| | | Single nucleotide variant (splice acceptor variant) | TAF8-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 4 +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Cleft palate +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GPathogenic/Likely pathogenic |
| | | Deletion | Severe global developmental delay +1 more | |
| | LY75-CD302, MARCHF7
+19 more | Deletion | Severe global developmental delay +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability +2 more | |
| | | Duplication (frameshift variant) | Abnormal facial shape +9 more | |
| | | Duplication (frameshift variant) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria, cblA type +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Blepharophimosis +7 more | |
| | | Deletion (frameshift variant) | Sensorineural hearing loss disorder +16 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe global developmental delay +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Severe global developmental delay +2 more | |
| | | Copy number gain | Severe global developmental delay +7 more | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital cerebellar hypoplasia +7 more | |
| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Single nucleotide variant (missense variant) | Cataract +4 more | GConflicting classifications of pathogenicity |
| | | Translocation | Intellectual disability +4 more | |
| | | Translocation | Clinodactyly of the 5th finger +7 more | |
| | | Translocation | Motor delay +8 more | |
| | | Complex | Lower limb hypertonia +9 more | |
| | | Translocation | Dolichocephaly +11 more | |
| | | Translocation | Hypotonia +10 more | |
| | | Translocation | Severe global developmental delay +4 more | |
| | | Translocation | Epicanthus +28 more | |
| | | Translocation | Severe global developmental delay +7 more | |
| | | Translocation | Mild conductive hearing impairment +12 more | |
| | | Translocation | Interictal epileptiform activity +5 more | |
| | | Translocation | Dry skin +12 more | |
| | | Translocation | Growth delay +20 more | |
| | | Translocation | Hemangioma +6 more | |
| | LOC129935026, TBR1 (T532fs) | Microsatellite (frameshift variant) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Global brain atrophy +12 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 +13 more | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized myoclonic seizure +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Progressive neurologic deterioration +7 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 3 +12 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Autism, susceptibility to, 15 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe neonatal-onset encephalopathy with microcephaly +7 more | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Tip-toe gait +4 more | |