A: The variant NC_000020.11:g.21709374dup in gene PAX1 is classified as 'Conflicting_classifications_of_pathogenicity' for Otofaciocervical_syndrome_2|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560|MedGen:C3661900. Review status: criteria provided, conflicting classifications.