A: The variant NC_000019.10:g.45419151G>A in gene ERCC1 is classified as 'Pathogenic' for Cerebrooculofacioskeletal_syndrome_4. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012554,MedGen:C1853100,OMIM:610758. Review status: no assertion criteria provided.