A: The variant NC_000019.10:g.45418968_45421119del in gene ERCC1 is classified as 'Pathogenic' for Global_proximal_tubulopathy|Failure_to_thrive|Cholestatic_liver_disease|Premature_ovarian_insufficiency|Cutaneous_photosensitivity. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0012573,MedGen:C4022839|Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100|Human_Phenotype_Ontology:HP:0002611,MedGen:C0860204|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322|Human_Phenotype_Ontology:HP:0000992,Human_Phenotype_Ontology:HP:0005594,Human_Phenotype_Ontology:HP:0006831,Human_Phenotype_Ontology:HP:0007538,MONDO:MONDO:0005434,MedGen:C0349506. Review status: no assertion criteria provided.