A: The variant NC_000019.10:g.52212726C>T in gene PPP2R1A is classified as 'Pathogenic/Likely_pathogenic' for Houge-Janssens_syndrome_2|Inborn_genetic_diseases|not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284|MeSH:D030342,MedGen:C0950123|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.