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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B1
(S131F)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 1
GUncertain significance
EIF2B1, LOC126861664
Deletion
(frameshift variant)
Leukoencephalopathy with vanishing white matter 1
GUncertain significance
EIF2B1
(A129T)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 1
GUncertain significance
EIF2B5
(R211S)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 1
GUncertain significance
EIF2B1
(K251R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 1
GUncertain significance
EIF2B5
(D689N)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 1
GUncertain significance
EIF2B1, LOC126861664
(T292R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 1
GUncertain significance
EIF2B1
(E5K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2B5
(P611L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EIF2B5
(R269Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
EIF2B3
(V30A)
Single nucleotide variant
(missense variant)
Vanishing white matter disease
+1 more
GLikely pathogenic
EIF2B5
(R299H)
Single nucleotide variant
(missense variant)
Vanishing white matter disease
+2 more
GPathogenic/Likely pathogenic
EIF2B1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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