A variant on Chromosome 3 in gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Von Hippel-Lindau syndrome