A: The variant NC_000022.11:g.38016208G>A in gene SOX10 is classified as 'Likely_pathogenic' for Hirschsprung_disease,_susceptibility_to,_1. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388. Review status: no assertion criteria provided.