A: The variant NC_000019.10:g.45364862G>T in gene ERCC2 is classified as 'Pathogenic/Likely_pathogenic' for Cerebrooculofacioskeletal_syndrome_2|Xeroderma_pigmentosum,_group_D|Trichothiodystrophy_1,_photosensitive|not_provided. Molecular consequence: SO:0001587: nonsense. 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|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.