| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hypotonia +3 more | |
| | | Single nucleotide variant (splice donor variant) | tegafur response - Toxicity +3 more | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Muir-Torré syndrome +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with severe motor impairment and absent language +1 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (splice donor variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (nonsense) | SRD5A3-congenital disorder of glycosylation +3 more | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | MEA1, PPP2R5D (E198K +3 more) | Single nucleotide variant (missense variant) | Neurodevelopmental delay +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leigh syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Non-ketotic hyperglycinemia +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Global developmental delay +8 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic root aneurysm +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +4 more) | Temtamy syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 14 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 +13 more | |
| | | Microsatellite (frameshift variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 13 | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental delay with autism spectrum disorder and gait instability +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +15 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Progressive sclerosing poliodystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Recurrent fever +24 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | KBG syndrome +3 more | |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | |
| | | Deletion (inframe_deletion) | Meckel syndrome, type 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Secondary microcephaly +3 more | |
| | | Deletion (splice donor variant) | Secondary microcephaly +2 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Secondary microcephaly +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Secondary microcephaly +3 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +14 more | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense +2 more) | Mucopolysaccharidosis, MPS-III-A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sanfilippo syndrome +2 more | |
| | | Deletion | Secondary microcephaly +2 more | |
| | | Deletion | Secondary microcephaly +2 more | |
| | | Duplication | Intellectual disability +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | |
| | | Single nucleotide variant (nonsense +2 more) | ZTTK syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Global developmental delay +1 more | |
| | | Deletion (frameshift variant +2 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | See cases +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Global developmental delay +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Autistic behavior +2 more | |
| | | Single nucleotide variant (nonsense) | Autistic behavior +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 49 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Microsatellite (inframe_deletion) | Congenital muscular hypertrophy-cerebral syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Wilson-Turner syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | X-linked progressive cerebellar ataxia | |