A: The variant NC_000020.11:g.59321158C>A in gene EDN3 is classified as 'Pathogenic' for Waardenburg_syndrome_type_4B. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013201,MedGen:C2750457,OMIM:613265,Orphanet:897. Review status: no assertion criteria provided.