Activating Mutation

Deactivating mutation

Nucleotide substitution

Nucleotide substitution in Hereditary Haemachromatosis

Synonymous Mutation

Missense Mutation

Nonsense mutation

Nucleotide deletions/insertions

Splicing Mutations

Copy Number Variation

Genomic Disorders

DiGeorge Syndrome

CNV Occurence

Gene disruption

Gene fusion

Revealing positional effects