A: The variant NC_000020.11:g.64049234A>T in gene SOX18 is classified as 'Pathogenic' for Hypotrichosis-lymphedema-telangiectasia_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823,Orphanet:69735. Review status: no assertion criteria provided.