A: The variant NC_000020.11:g.25314944dup in gene ABHD12 is classified as 'Pathogenic' for PHARC_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848. Review status: criteria provided, single submitter.