A: The variant NC_000022.11:g.20437752C>T in gene SCARF2 is classified as 'Likely_pathogenic' for Van_den_Ende-Gupta_syndrome. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010959,MedGen:C1833136,OMIM:600920,Orphanet:2460. Review status: criteria provided, single submitter.