A: The variant NC_000019.10:g.41994262C>T in gene ATP1A3 is classified as 'Uncertain_significance' for Dystonia_12|Alternating_hemiplegia_of_childhood. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290,Orphanet:2131. Review status: criteria provided, single submitter.