A: The variant NC_000019.10:g.41986177G>A in gene ATP1A3 is classified as 'Pathogenic' for Dystonia_12|Alternating_hemiplegia_of_childhood_2|not_provided|Epicanthus|Ventriculomegaly|Abnormal_earlobe_morphology|Depressed_nasal_bridge|Seizure. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Orphanet:2131|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000286,Human_Phenotype_Ontology:HP:0000624,Human_Phenotype_Ontology:HP:0007930,MedGen:C0678230,OMIM:131500|Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923|Human_Phenotype_Ontology:HP:0000363,MedGen:C4021808|Human_Phenotype_Ontology:HP:0000425,Human_Phenotype_Ontology:HP:0000428,Human_Phenotype_Ontology:HP:0000439,Human_Phenotype_Ontology:HP:0000459,Human_Phenotype_Ontology:HP:0004413,Human_Phenotype_Ontology:HP:0004505,Human_Phenotype_Ontology:HP:0004506,Human_Phenotype_Ontology:HP:0004666,Human_Phenotype_Ontology:HP:0005119,Human_Phenotype_Ontology:HP:0005280,Human_Phenotype_Ontology:HP:0005284,MedGen:C1836542|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. Review status: criteria provided, multiple submitters, no conflicts.