Links from Orgtrack
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | |
| | | Single nucleotide variant (missense variant) | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +1 more | |
| | | Single nucleotide variant (missense variant) | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +3 more | |
| | | Single nucleotide variant (missense variant) | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +5 more | |
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