A: The variant NC_000019.10:g.45364865C>T in gene ERCC2 is classified as 'Pathogenic/Likely_pathogenic' for Malignant_tumor_of_urinary_bladder|not_provided|Cerebrooculofacioskeletal_syndrome_2. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MedGen:C3661900|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756. Review status: criteria provided, multiple submitters, no conflicts.