| | | Single nucleotide variant (stop lost +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (stop lost +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Deletion (frameshift variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Deletion (frameshift variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (splice donor variant) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion +1 more) | not provided +2 more | |
| | | Microsatellite (inframe_insertion +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Duplication (splice donor variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (intron variant) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Duplication (splice donor variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Megalencephalic leukoencephalopathy with subcortical cysts +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense +2 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Deletion (frameshift variant +2 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |