A: The variant NC_000019.10:g.45352555C>T in gene ERCC2 is classified as 'Uncertain_significance' for Cerebrooculofacioskeletal_syndrome_2|not_specified. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MedGen:CN169374. Review status: criteria provided, single submitter.