A: The variant NC_000020.11:g.46725046del in gene SLC2A10 is classified as 'Pathogenic' for Arterial_tortuosity_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0008818,MedGen:C1859726,OMIM:208050,Orphanet:3342. Review status: criteria provided, single submitter.