question: Variant on chromosome 16, at position 30985702, affecting HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
answer: pathogenic; ['Congenital_bile_acid_synthesis_defect', 'Congenital_bile_acid_synthesis_defect_1', 'HSD3B7-related_disorder']