| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex 4 deficiency, nuclear type 17 | |
| | | Single nucleotide variant (missense variant +1 more) | Tay-Sachs disease | |
| | ATRIP, ATRIP-TREX1
+1 more | Deletion (non-coding transcript variant +2 more) | Aicardi-Goutieres syndrome 1 | |
| | | Deletion (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | |
| | EIF2B4, GTF3C2-AS2 (S258I +7 more) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (nonsense) | Fucosidosis | |
| | | Deletion | Tay-Sachs disease | |
| | | Single nucleotide variant (splice donor variant) | Lowe syndrome | |
| | | Single nucleotide variant (intron variant) | Sandhoff disease | |
| | | Duplication (3 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | |
| | | Microsatellite (frameshift variant +1 more) | Tay-Sachs disease | |
| | | Duplication (frameshift variant) | Hypomyelinating leukodystrophy 2 | |
| | | Insertion (frameshift variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Insertion (frameshift variant) | Hypomyelinating leukodystrophy 2 | |
| | | Deletion (intron variant) | Merosin deficient congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Landau-Kleffner syndrome | |
| | | Deletion (frameshift variant) | Metachromatic leukodystrophy | |
| | | Duplication (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Glutaric aciduria, type 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | Neuronal ceroid lipofuscinosis 7 | |
| | | Deletion (frameshift variant) | Aicardi-Goutieres syndrome 5 | |
| | | Microsatellite (inframe_insertion +1 more) | Developmental and epileptic encephalopathy, 68 | |
| | | Deletion (inframe_deletion +1 more) | Bifunctional peroxisomal enzyme deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pontocerebellar hypoplasia type 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 6 | |
| | | Duplication (inframe_insertion) | Adrenoleukodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) | |
| | | Single nucleotide variant (missense variant +1 more) | Metachromatic leukodystrophy | |
| | | Single nucleotide variant (synonymous variant) | Metachromatic leukodystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy | |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Ceroid lipofuscinosis, neuronal, 6A | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 3A (Zellweger) | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-B +1 more | |
| | SEPSECS, LOC129992330 (I32R) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 4A (Zellweger) +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (nonsense) | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | |
| | | Single nucleotide variant (missense variant) | Biotin-responsive basal ganglia disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 26 | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoic acid synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 39 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 13 | |
| | LOC125446261, MLC1 (A86P +1 more) | Single nucleotide variant (missense variant +2 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 5 | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 7 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | 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 |
| | | 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 | |
| | | Deletion (frameshift variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Adrenoleukodystrophy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cystic leukoencephalopathy without megalencephaly | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex III deficiency nuclear type 8 | |
| | FUCA1, LOC126805661 (T135K) | Single nucleotide variant (missense variant) | Fucosidosis | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 6B | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 6 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vici syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, juvenile myoclonic, susceptibility to, 10 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cockayne syndrome type 1 | |
| | | Microsatellite (inframe_deletion +1 more) | Sandhoff disease | |
| | | Deletion (inframe_deletion) | Peroxisome biogenesis disorder 11A (Zellweger) | |
| | | 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 | |
| | DCPS, GSEC (E306D +1 more) | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
| | | Deletion (frameshift variant) | Abdominal distention +8 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | 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 5 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Megaconial type congenital muscular dystrophy | GConflicting classifications of pathogenicity |