A: The variant NC_000022.11:g.37983783A>C in gene SOX10 is classified as 'Pathogenic' for Waardenburg_syndrome_type_2E,_without_neurologic_involvement. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN069052. Review status: no assertion criteria provided.