A: The variant NC_000020.11:g.21705870C>A in gene PAX1 is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Otofaciocervical_syndrome_2. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560. Review status: criteria provided, conflicting classifications.