| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | |
| | | Single nucleotide variant (synonymous variant) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Megalencephalic leukoencephalopathy with subcortical cysts +4 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +4 more | |
| | | Single nucleotide variant (synonymous variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |