A: The variant NC_000020.11:g.25323409_25323410delinsAAA in gene ABHD12 is classified as 'Pathogenic' for PHARC_syndrome|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|MedGen:C3661900. Review status: criteria provided, single submitter.