ACVRL1 and telangiectasia, hereditary hemorrhagic, type 2: Although it is well known that pathogenic variants in ACVRL1 are associated with autosomal dominant hereditary haemorrhagic telangiectasia type 2 (HHT2)34, the identified p.V429L variant was not described in the literature but is localized within a region with several HHT2-associated mutations.