A: The variant NC_000019.10:g.41968847GAC[1] in gene ATP1A3 is classified as 'Pathogenic/Likely_pathogenic' for Dystonia_12|Developmental_and_epileptic_encephalopathy_99. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphanet:71517|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606. Review status: criteria provided, multiple submitters, no conflicts.