| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | EIF2B4, GTF3C2-AS2 (R251H +7 more) | Single nucleotide variant (missense variant) | Vanishing white matter disease +1 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (nonsense) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (nonsense) | Vanishing white matter disease | |
| | EIF2B4, GTF3C2-AS2 (N225D +7 more) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Ovarioleukodystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +1 more | |
| | EIF2B5, LOC129938041 (F57S) | Single nucleotide variant (missense variant) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Deletion (frameshift variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (nonsense) | Vanishing white matter disease | |
| | | Single nucleotide variant (nonsense) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | EIF2B4, GTF3C2-AS2 (S258I +7 more) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Deletion (frameshift variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | EIF2B5, LOC129938041 (A45G) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Duplication (frameshift variant +2 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +3 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (intron variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant) | Vanishing white matter disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Vanishing white matter disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | EIF2B4, GTF3C2-AS2 (T263N +7 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EIF2B4, GTF3C2-AS2 (V182L +7 more) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant | Vanishing white matter disease | |
| | | Single nucleotide variant | Vanishing white matter disease | |
| | | Single nucleotide variant | Vanishing white matter disease | |
| | | Single nucleotide variant (5 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (intron variant) | Vanishing white matter disease +1 more | GConflicting classifications of pathogenicity |
| | EIF2B4, GTF3C2-AS2 (R452Q +7 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |