A: The variant NC_000019.10:g.45355719G>A in gene ERCC2 is classified as 'Uncertain_significance' for not_provided|not_specified|Cerebrooculofacioskeletal_syndrome_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756. Review status: criteria provided, multiple submitters, no conflicts.