A: The variant NC_000019.10:g.52212729C>T in gene PPP2R1A is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Houge-Janssens_syndrome_2. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014605,MedGen:C4225352,OMIM:616362,Orphanet:457284. Review status: criteria provided, multiple submitters, no conflicts.