This lecture will cover the basic types of DNA variation (single nucleotide variants, small insertions and deletions, “indels”, structural variants, copy number alterations, methylation) and briefly discuss the fundamental difference between benign polymorphisms and pathogenic mutations. This background will allow for an overview of the ACMG/AMP Guidelines for Germline Variant assessment, first published in 2015, and a demonstration of how to apply this system in assessment of novel genetic var...