A: The variant NC_000019.10:g.45369068A>T in gene ERCC2 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Cerebrooculofacioskeletal_syndrome_2|Xeroderma_pigmentosum,_group_D. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730. Review status: criteria provided, multiple submitters, no conflicts.