A: The variant NC_000020.11:g.10640813CT[1] in gene JAG1 is classified as 'Pathogenic' for Arteriohepatic_dysplasia. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0007318,MeSH:D016738,MedGen:C0085280,OMIM:PS118450,Orphanet:52. Review status: criteria provided, single submitter.