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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIMP2
(G11R)
Single nucleotide variant
(missense variant +2 more)
not specified
GBenign
AIMP2, EIF2AK1
Single nucleotide variant
(3 prime UTR variant +1 more)
Leukodystrophy, hypomyelinating, 17
+1 more
GPathogenic