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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B2
(G200V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
EIF2B2
(V85E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
EIF2B2
(M203fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic
EIF2B2
(S171F)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 2
GPathogenic
EIF2B2
(R183*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EIF2B2
(V316D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
EIF2B2
(E213G)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 2
+4 more
GPathogenic
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