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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EEF1A2
(G70S)
Single nucleotide variant
(missense variant)
Intellectual disability
+5 more
GPathogenic
EEF1A2
(V16A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
GLikely pathogenic