A: The variant NC_000019.10:g.45414870G>C in gene ERCC1 is classified as 'Pathogenic' for Cerebrooculofacioskeletal_syndrome_4|Cockayne_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758|MONDO:MONDO:0016006,MedGen:C0009207,Orphanet:191. Review status: no assertion criteria provided.