| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | NPHP3-ACAD11, UBA5 (V154M +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 44 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 44 +1 more | |
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