Twenty-one patients with VHL disease from 11 families in Nova Scotia were identified. Sixteen patients diagnosed with VHL disease had genetic testing and 2 point mutations and 1 deletion was idenfied. Among the six patients with RCC, the 2 point mutation and a deletion were all identified. The most common mutation identified in the VHL disease gene was the point mutation c.331A>G (legacy notation A544G) found in 9 patients. It is unclear if all patients with this mutation had RCC but we know at least one patient with RCC harboured this mutation. Other phenotypes and genotype correlations were not described. Whether the patients harboring the same mutation were related was not described and family history was not available.