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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B5
(A2V)
Single nucleotide variant
(missense variant)
Vanishing white matter disease
+1 more
GConflicting classifications of pathogenicity
EIF2B5
(S718P)
Single nucleotide variant
(missense variant)
Leukoencephalopathy
GUncertain significance