| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC128772366, LOC128772367 +764 more | Copy number gain | See cases | |
| | LOC130006864, LOC130006865 +763 more | Copy number gain | See cases | |
| | LOC130007002, LOC130007003 +499 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Schizophrenia | |
| | LOC130006995, LOC130006996 +551 more | Copy number loss | See cases | |
| | LOC121832824, LOC124625855 +549 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126861375, LOC126861376 +444 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Microsatellite (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Deletion (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Microsatellite (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Insertion (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Deletion (3 prime UTR variant) | not provided +1 more | |
| | | Deletion (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Duplication (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Duplication (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | Megalencephalic leukoencephalopathy with subcortical cysts | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | Megalencephalic leukoencephalopathy with subcortical cysts 2A +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Megalencephalic leukoencephalopathy with subcortical cysts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |