| | | Deletion (frameshift variant) | Congenital cerebellar hypoplasia +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Brain small vessel disease 1 with or without ocular anomalies +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +2 more | |
| | | Copy number loss | Corpus callosum, agenesis of +3 more | |
| | | Copy number loss | Cerebellar vermis hypoplasia +5 more | |
| | | Copy number loss | Corpus callosum, agenesis of +4 more | |
| | | Copy number loss | Generalized hypotonia +3 more | |
| | | Copy number gain | Transverse facial cleft +3 more | |
| | LOC126805688, YARS1 (F269S) | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Syndromic neurodevelopmental disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +1 more | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +1 more | |
| | | Single nucleotide variant (missense variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Corpus callosum, agenesis of +1 more | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Corpus callosum, agenesis of +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Ventriculomegaly +5 more | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple congenital anomalies +3 more | |
| | | Deletion (frameshift variant) | Cerebellar vermis hypoplasia +3 more | GPathogenic/Likely pathogenic |
| | LOC121392929, C2CD3 (L306P) | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ectopic tissue +4 more | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +2 more | |
| | | Microsatellite (inframe_deletion) | Corpus callosum, agenesis of +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital cerebellar hypoplasia +4 more | |
| | LOC126863207, MID1 (N589D +1 more) | Single nucleotide variant (missense variant) | Low-set ears +4 more | |
| | | | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
| | | Single nucleotide variant (missense variant) | Mirror movements 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mirror movements 1 +1 more | |
| | | Deletion (frameshift variant) | Mirror movements 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy-associated dysgyria +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more | GPathogenic/Likely pathogenic |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Single nucleotide variant (splice acceptor variant) | Abnormal cerebral cortex morphology +5 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to TUBA1A mutation +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GPathogenic/Likely pathogenic |