| | | Copy number gain | Polymicrogyria | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect, ostium secundum type +11 more | |
| | | Single nucleotide variant (splice donor variant) | Ventriculomegaly +2 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +5 more | |
| | | Single nucleotide variant (splice donor variant) | Polymicrogyria | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +9 more | |
| | LOC102724058, SCN1A (S1110fs +5 more) | Duplication (non-coding transcript variant +1 more) | Polymicrogyria +11 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +13 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Polymicrogyria | |
| | | Single nucleotide variant (nonsense) | Polymicrogyria +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polymicrogyria | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria | |
| | | Microsatellite (inframe_deletion) | not specified +1 more | |
| | ENTPD1, ENTPD1-AS1 (V16M +2 more) | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 64 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Motor delay +3 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +5 more | |
| | | Translocation | Polymicrogyria +10 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polymicrogyria +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Capillary hemangioma +9 more | GPathogenic/Likely pathogenic |