A: The variant NC_000020.11:g.25390779_25390785del in gene ABHD12 is classified as 'Uncertain_significance' for PHARC_syndrome. Molecular consequence: SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848. Review status: criteria provided, single submitter.