A: The variant NC_000019.10:g.41984953C>G in gene ATP1A3 is classified as 'Pathogenic/Likely_pathogenic' for Dystonia_12|Delayed_speech_and_language_development|Apnea|Seizure|Oculogyric_crisis|Hemiplegia. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644|Human_Phenotype_Ontology:HP:0002104,Human_Phenotype_Ontology:HP:0005936,Human_Phenotype_Ontology:HP:0005958,MedGen:C0003578|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:0010553,MONDO:MONDO:0000483,MedGen:C0085637|Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991. Review status: criteria provided, multiple submitters, no conflicts.