A: The variant NC_000019.10:g.45353297_45353298del in gene ERCC2 is classified as 'Pathogenic/Likely_pathogenic' for ERCC2-related_disorder|Inborn_genetic_diseases|Xeroderma_pigmentosum,_group_D|Cerebrooculofacioskeletal_syndrome_2|not_specified|Xeroderma_pigmentosum|Trichothiodystrophy_1,_photosensitive|Leukodystrophy|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:CN239291|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MedGen:CN169374|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364,Orphanet:670|Human_Phenotype_Ontology:HP:0002415,Human_Phenotype_Ontology:HP:0006926,Human_Phenotype_Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Orphanet:68356|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.