A: The variant NC_000019.10:g.49861804_49861820dup in gene PNKP is classified as 'Pathogenic' for Seizure|Abnormality_of_the_nervous_system|Microcephaly,_seizures,_and_developmental_delay|Inborn_genetic_diseases|not_provided|Ataxia_-_oculomotor_apraxia_type_4|Developmental_and_epileptic_encephalopathy,_12|Intellectual_disability. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: 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:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552|MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756. Review status: criteria provided, multiple submitters, no conflicts.