Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.
Germline mutational data on VHL was gathered from various countries to assess variation in germline mutations that produce disease within different populations. Families were grouped according to three possible outcomes of disease: renal cell carcinoma without pheochromocytoma, renal cell carcinoma with pheochromocytoma, or pheochromocytoma alone. SSCP and denaturing gradient gel electrophoresis identified mutations in 300/469 (63%) of families affected with VHL. This germline familial VHL mutation (c.464-2A>G) was taken from the Bristol Myers Squibb database, and the Munich, university of Freiburg and Institute of Pathology database. It had an unknown number of members belonging to Family ID 31CE, reported in Table 3, as being found in VHL families without pheochromocytoma, and with renal cell carcinoma. Additionally, it was reported in table 5, specified as families without detailed clinical information, under family ID 28BMS. It was reported in the paper as c.677-2A>G due to a difference in transcript reference.