| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CNPY3-GNMT, CNPY3 (R154Q +2 more) | Single nucleotide variant (missense variant +3 more) | Developmental and epileptic encephalopathy, 60 | |
| | CNPY3, CNPY3-GNMT (Q210* +2 more) | Single nucleotide variant (nonsense +2 more) | Developmental and epileptic encephalopathy, 60 | |
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