| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 38 +1 more | |
| | LOC132090595, EEF1A2 (I178F) | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 38 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
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