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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B3
(D100E)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 3
GUncertain significance
EIF2B3
(R166K)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 3
+1 more
GUncertain significance
EIF2B3
(R45H)
Single nucleotide variant
(missense variant)
Vanishing white matter disease
+3 more
GUncertain significance
EIF2B3
(G11V)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 3
+1 more
GConflicting classifications of pathogenicity
EIF2B3
(L27Q)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 3
GPathogenic
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
EIF2B3
(V398fs)
Microsatellite
(frameshift variant)
Leukoencephalopathy with vanishing white matter 3
GPathogenic
EIF2B3
(R225Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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