A: The variant NC_000019.10:g.41970284C>T in gene ATP1A3 is classified as 'Pathogenic' for not_provided|Oculogyric_crisis|Hemiplegia|Global_developmental_delay|Seizure|Dystonia_12|Cerebellar_ataxia-areflexia-pes_cavus-optic_atrophy-sensorineural_hearing_loss_syndrome|Alternating_hemiplegia_of_childhood_2|Developmental_and_epileptic_encephalopathy_99|Inborn_genetic_diseases|Dystonic_disorder|Dyskinesia|Neurodevelopmental_delay|not_specified. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0010553,MONDO:MONDO:0000483,MedGen:C0085637|Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|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|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338,Orphanet:1171|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384|Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|MedGen:CN169374. Review status: criteria provided, multiple submitters, no conflicts.