A: The variant NC_000022.11:g.20425445del in gene SCARF2 is classified as 'Pathogenic' for Van_den_Ende-Gupta_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0010959,MedGen:C1833136,OMIM:600920,Orphanet:2460. Review status: no assertion criteria provided.