A: The variant NC_000020.11:g.48985619C>T in gene ARFGEF2 is classified as 'Uncertain_significance' for ARFGEF2-related_disorder|not_specified. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:CN169374. Review status: criteria provided, single submitter.