A: The variant NC_000020.11:g.64048601G>T in gene SOX18 is classified as 'Likely_pathogenic' for not_provided|Hypotrichosis-lymphedema-telangiectasia-renal_defect_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0019073,MedGen:C4317151,OMIM:137940,Orphanet:69735. Review status: criteria provided, single submitter.