A: The variant NC_000020.11:g.2860242_2860257delinsGAGAGC in gene VPS16 is classified as 'Pathogenic' for Dystonia_30. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0025691,MedGen:C5543312,OMIM:619291. Review status: no assertion criteria provided.