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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Vanishing white matter disease
GLikely pathogenic
EIF2B2
(I15fs)
Deletion
(frameshift variant)
Vanishing white matter disease
GPathogenic