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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EEF1A2
(K460R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
GUncertain significance
EEF1A2
(V437F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic