Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 31A +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 31B | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 31B | |
| | DNM1, LOC113839516 (P117fs) | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 31B | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental and epileptic encephalopathy, 31B | |
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