A: The variant NC_000020.11:g.46725519del in gene SLC2A10 is classified as 'Pathogenic/Likely_pathogenic' for Arterial_tortuosity_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0008818,MedGen:C1859726,OMIM:208050,Orphanet:3342|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387. Review status: criteria provided, multiple submitters, no conflicts.