A: The variant NC_000020.11:g.46370526C>G in gene ELMO2 is classified as 'Likely_pathogenic' for Primary_intraosseous_venous_malformation. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011744,MedGen:C1847197,OMIM:606893,Orphanet:140436. Review status: criteria provided, single submitter.