This variant lies on Chromosome 9 and affects the gene AK1, ST6GALNAC4-ST6GALNAC6-AK1 (adenylate kinase 1| ST6GALNAC4-ST6GALNAC6-AK1 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hemolytic anemia due to adenylate kinase deficiency