| | | Single nucleotide variant (nonsense) | Autosomal recessive inheritance | |
| | | Single nucleotide variant (splice acceptor variant) | Familial type 3 hyperlipoproteinemia | |
| | | Duplication (nonsense) | Familial hypercholesterolemia +2 more | |
| | EIF2B4, GTF3C2-AS2 (S258N +7 more) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system | |
| | | Deletion (frameshift variant) | Fucosidosis | |
| | | Single nucleotide variant (splice donor variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | Galactosylceramide beta-galactosidase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Hypomyelinating leukodystrophy 2 | |
| | | Single nucleotide variant (nonsense +3 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 2 | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Tay-Sachs disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile GM1 gangliosidosis | |
| | | Deletion (frameshift variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Adrenoleukodystrophy | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cystic leukoencephalopathy without megalencephaly | |
| | | Microsatellite (inframe_deletion +1 more) | Sandhoff disease | |
| | | Single nucleotide variant (missense variant) | Ceroid lipofuscinosis, neuronal, 6A | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Spongy degeneration of central nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypomyelinating leukodystrophy 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | LOC130064279, SDHAF1 (Q10P) | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Tay-Sachs disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | FUCA1, LOC126805661 (G141V) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia +8 more | GConflicting classifications of pathogenicity |