| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Microcephaly 7, primary, autosomal recessive +3 more | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | AP4B1-AS1, AP4B1 (E428* +2 more) | Single nucleotide variant (nonsense) | Abnormal brain morphology | |
| | AP4B1, AP4B1-AS1 (F319L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Deletion (frameshift variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 63 +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | LARP7, MIR302CHG (K278* +2 more) | Single nucleotide variant (nonsense) | Abnormal brain morphology +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant +1 more) | Pontoneocerebellar hypoplasia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ROS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Arthrogryposis multiplex congenita 3, myogenic type +4 more | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Microcephaly 1, primary, autosomal recessive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Abnormal brain morphology +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Non-ketotic hyperglycinemia +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Deletion (frameshift variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (nonsense) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant +2 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | FAM222A, FAM222A-AS1 (H95L) | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 55 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not specified +3 more | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 14 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 14 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant +2 more) | Al Kaissi syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple congenital anomalies-hypotonia-seizures syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (intron variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Autism, susceptibility to, X-linked 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |