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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B4
(M12T +6 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy with vanishing white matter 4
GPathogenic
EIF2B4, GTF3C2-AS2
(A185D +6 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 4
GPathogenic
EIF2B4, GTF3C2-AS2
(R277W +6 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 4
GPathogenic
EIF2B4, GTF3C2-AS2
(V491F +7 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 4
+1 more
GUncertain significance
EIF2B4, GTF3C2-AS2
(I339V +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EIF2B4, GTF3C2-AS2
(P242L +7 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 4
+2 more
GPathogenic/Likely pathogenic
EIF2B4, GTF3C2-AS2
(Y489H +7 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 4
GPathogenic
EIF2B4, GTF3C2-AS2
(C465R +7 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 4
GPathogenic
EIF2B4
(A228V +7 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with vanishing white matter 4
GPathogenic
EIF2B4, GTF3C2-AS2
Single nucleotide variant
(splice donor variant)
Leukoencephalopathy with vanishing white matter 4
GPathogenic
EIF2B4, GTF3C2-AS2
(R374C +7 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EIF2B4, GTF3C2-AS2
(R357Q +7 more)
Single nucleotide variant
(missense variant)
Vanishing white matter disease
GUncertain significance
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