A: The variant NC_000019.10:g.45351660T>C in gene ERCC2 is classified as 'Uncertain_significance' for Cerebrooculofacioskeletal_syndrome_2|Xeroderma_pigmentosum,_group_D|Trichothiodystrophy_1,_photosensitive. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364,Orphanet:670. Review status: criteria provided, single submitter.