A: The variant NC_000019.10:g.45361577dup in gene ERCC2 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Cerebrooculofacioskeletal_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756. Review status: criteria provided, multiple submitters, no conflicts.