A: The variant NC_000019.10:g.45352235G>A in gene ERCC2 is classified as 'Pathogenic' for Trichothiodystrophy_1,_photosensitive|Xeroderma_pigmentosum,_group_D|Cerebrooculofacioskeletal_syndrome_2|Hypotrichosis_simplex|ERCC2-related_disorder|Trichothiodystrophy|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364,Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0018914,MeSH:C537160,MedGen:C1854310,Orphanet:55654|MedGen:CN239291|MONDO:MONDO:0018053,MedGen:C1955934,OMIM:PS601675,Orphanet:33364|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.