A: The variant NC_000020.11:g.63438644G>A in gene KCNQ2 is classified as 'Pathogenic/Likely_pathogenic' for Developmental_and_epileptic_encephalopathy,_7|Early_infantile_epileptic_encephalopathy_with_suppression_bursts|Complex_neurodevelopmental_disorder|Intellectual_disability,_moderate|Autistic_behavior|Abnormal_facial_shape|Seizure|Epicanthus|not_provided|Seizures,_benign_familial_neonatal,_1. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720,Orphanet:439218|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934|MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351|Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975|Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500|MedGen:C3661900|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200,Orphanet:1949. Review status: criteria provided, multiple submitters, no conflicts.