| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | TRD-GTC2-10, TRD-GTC2-9 +906 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HNF1A, HNF1A-AS1 +786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 (3 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 (3 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 (3 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 (3 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 (3 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 (3 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 (3 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Vanishing white matter disease +1 more | |
| | | Deletion (frameshift variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2B1, LOC126861664 (E299D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2B1, LOC126861664 (T292R) | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2B1, LOC126861664 (V290A) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2B1, LOC126861664 (V290M) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2B1, LOC126861664 (D287G) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126861664, EIF2B1 (P278R) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126861664, EIF2B1 (Y275C) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | EIF2B1, LOC126861664 (D274H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2B1, LOC126861664 (V273I) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2B1, LOC126861664 (W272fs) | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2B1, LOC126861664 (A260V) | Single nucleotide variant (missense variant) | not provided | |
| | EIF2B1, LOC126861664 (A260fs) | Duplication (frameshift variant) | not provided | |
| | EIF2B1, LOC126861664 (A260T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | EIF2B1, LOC126861664 (L257fs) | Microsatellite (frameshift variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | EIF2B1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |