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Table 1 Variants reported in five categories according to the HGMD Professional

From: Next-generation sequencing in familial breast cancer patients from Lebanon

Category Category Variation reported as
DM Disease-causing mutations Pathological mutation
DM? Disease-causing mutations Likely pathological mutation
DP Disease-associated polymorphism Polymorphism in significant association with a disease/phenotype (p < 0.05) that is assumed to be functional
DFP Disease-associated polymorphism Polymorphism in significant association with disease (p < 0.05) that has evidence of being of direct functional importance
FP In vitro/laboratory or in vivo functional polymorphism Polymorphism that affects the structure, function or expression of the gene (or gene product), but with no disease association reported as yet