A: The variant NC_000020.11:g.10648598T>C in gene JAG1 is classified as 'Uncertain_significance' for Alagille_syndrome_due_to_a_JAG1_point_mutation. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0016862,MedGen:C1956125,OMIM:118450,Orphanet:261619,Orphanet:52. Review status: criteria provided, single submitter.