A: The variant NC_000019.10:g.45364839_45364842del in gene ERCC2 is classified as 'Pathogenic' for not_provided|Xeroderma_pigmentosum,_group_D|Cerebrooculofacioskeletal_syndrome_2. Molecular consequence: SO:0001587: nonsense. Variant type: Deletion. Disease database links: MedGen:C3661900|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756. Review status: criteria provided, multiple submitters, no conflicts.