Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 87 | |
| | | Single nucleotide variant (missense variant +1 more) | CDK19-related condition +1 more | GConflicting classifications of pathogenicity |
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