| | | Single nucleotide variant (synonymous variant) | not provided +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 | |
| | | Deletion (inframe_deletion) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +2 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) | not provided +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) | HEPACAM-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Megalencephalic leukoencephalopathy with subcortical cysts 2A | |
| | | Single nucleotide variant (missense variant) | not provided | |