| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 28 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 28 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Epilepsy +1 more | |
| | | Deletion | Developmental and epileptic encephalopathy, 28 | |
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