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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B5
(E81K)
Single nucleotide variant
(missense variant)
Vanishing white matter disease
+1 more
GPathogenic
EIF2B5
(L106F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
EIF2B5
(R113H)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 5
+3 more
GPathogenic
EIF2B5
(I587V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
EIF2B5
(A639T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EIF2B5
(A645V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
EIF2B5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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