| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (nonsense) | Leukodystrophy | |
| | | Single nucleotide variant (nonsense) | Leukodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Leukodystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly +4 more | |
| | | Duplication (nonsense) | Leukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Leukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (splice donor variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Leukodystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more | |
| | KARS1, LOC126862402 (A526V +2 more) | Single nucleotide variant (missense variant) | Leukodystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | See cases +6 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | LOC126860970, POLR3A (R1069Q) | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Astigmatism +12 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Astigmatism +12 more | |
| | | Single nucleotide variant (intron variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +2 more | GPathogenic/Likely pathogenic |
| | | | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency +19 more | |
| | RAB33A, AIFM1 (A549V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leukodystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypogonadotropic hypogonadism 7 with or without anosmia +1 more | |
| | | Deletion (frameshift variant) | ERCC2-related condition +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Leukodystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Leukodystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | GPathogenic/Likely pathogenic |