A: The variant NC_000020.11:g.21714766G>A in gene PAX1 is classified as 'Uncertain_significance' for not_provided|Otofaciocervical_syndrome_2|not_specified. Molecular consequence: SO:0001587: nonsense,SO:0001624: 3_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560|MedGen:CN169374. Review status: criteria provided, multiple submitters, no conflicts.