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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B3
(I346T)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 3
GPathogenic
EIF2B3
(A87V)
Single nucleotide variant
(missense variant)
EIF2B3-related condition
+2 more
GConflicting classifications of pathogenicity
EIF2B5
(T91A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EIF2B5
(R113C)
Single nucleotide variant
(missense variant)
Vanishing white matter disease
+1 more
GPathogenic/Likely pathogenic
EIF2B5
(R195H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
EIF2B5
(V309L)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
GPathogenic
EIF2B5
(R339W)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
+2 more
GPathogenic/Likely pathogenic
EIF2B5
(R339P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
EIF2B5
(R339Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
EIF2B2
(E213G)
Single nucleotide variant
(missense variant)
EIF2B2-related condition
+4 more
GPathogenic
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