A: The variant NC_000019.10:g.52215814dup in gene PPP2R1A is classified as 'Pathogenic' for Houge-Janssens_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284. Review status: criteria provided, single submitter.