And relate this information phenotypic variation

2. TLR1

3. HOXD13

2. Summary of mutations or polymorphisms associated with that gene: these should be cited and described from peer-reviewed publications. In cases where multiple mutations have been described in a single gene, choose 3 mutations: the mutations should where possible map to different domains of the protein (e.g DNA binding domain) and be different types of mutation (e.g. missense, nonsense, frameshift). 

3. Phenotypic changes associated with the mutation(s) or polymorphisms: identify the disease/syndrome associated with the mutation, noting if any differences in penetrance and/or disease severity are associated with different mutations