A: The variant NC_000022.11:g.31623774_31623775del in gene PISD is classified as 'Likely_pathogenic' for Liberfarb_syndrome. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030045,MedGen:C5394404,OMIM:618889,Orphanet:589442. Review status: criteria provided, single submitter.