A: The variant NC_000019.10:g.45351423_45351424insT in gene ERCC2 is classified as 'Uncertain_significance' for Xeroderma_pigmentosum. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910. Review status: criteria provided, single submitter.