A: The variant NC_000020.11:g.21709343C>T in gene PAX1 is classified as 'Uncertain_significance' for not_provided|Inborn_genetic_diseases|Otofaciocervical_syndrome_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014254,MedGen:C5442121,OMIM:615560. Review status: criteria provided, multiple submitters, no conflicts.