A: The variant NC_000019.10:g.46846102C>T in gene AP2S1 is classified as 'Pathogenic' for not_provided|Familial_hypocalciuric_hypercalcemia_3|AP2S1-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0010926,MedGen:C1833372,OMIM:600740,Orphanet:101050,Orphanet:405|.. Review status: criteria provided, multiple submitters, no conflicts.