A: The variant NC_000020.11:g.64048531C>T in gene SOX18 is classified as 'Uncertain_significance' for Hypotrichosis-lymphedema-telangiectasia-renal_defect_syndrome|Hypotrichosis-lymphedema-telangiectasia_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019073,MedGen:C4317151,OMIM:137940,Orphanet:69735|MONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823,Orphanet:69735. Review status: criteria provided, single submitter.