| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (non-coding transcript variant +3 more) | Developmental and epileptic encephalopathy, 60 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 60 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 60 | |
| | CNPY3-GNMT, CNPY3 (G246S +2 more) | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 60 | |
| | CNPY3, CNPY3-GNMT (K136R +2 more) | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 60 | |
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