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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EEF1A2
(L421F)
Single nucleotide variant
(missense variant)
Seizure
GUncertain significance
EEF1A2
(E124K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+3 more
GPathogenic/Likely pathogenic