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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B5
(S614*)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with vanishing white matter 5
GPathogenic
EIF2B5
Single nucleotide variant
(intron variant)
Leukoencephalopathy with vanishing white matter 5
GUncertain significance
EIF2B5
(S683R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
GUncertain significance
EIF2B5
(R172Q)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
+1 more
GUncertain significance
EIF2B5
(R222W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EIF2B5
(P427L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
+1 more
GPathogenic/Likely pathogenic
EIF2B5
(A403V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EIF2B5
(E536D)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
+1 more
GConflicting classifications of pathogenicity
EIF2B5
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy with vanishing white matter 5
+1 more
GConflicting classifications of pathogenicity
EIF2B5
(R339W)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
+2 more
GPathogenic/Likely pathogenic
EIF2B5
(D270H)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
GPathogenic
EIF2B5, LOC129938041
(F56C)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
GPathogenic
EIF2B5, LOC129938041
(F56V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
EIF2B5
(R315H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EIF2B5
(T182M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EIF2B5
(R195C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
EIF2B5
(V309L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
GPathogenic
EIF2B5
(R195H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
EIF2B5
(R113H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
EIF2B5
(G386V)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
GPathogenic
EIF2B5
(W628R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
GPathogenic
EIF2B5
(T91A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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