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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B5
(R113H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
EIF2B5
(K565fs)
Indel
(frameshift variant)
Vanishing white matter disease
+1 more
GPathogenic