VHL and neoplasm: In tumour tissue, loss of heterozogosity and copy number loss was observed on the whole arm of chromosome 3p by Omni-1-quad SNP array (Illumina, CA, USA).VHL; c.548C>T, p.Ser183Leu has been classified as pathogenic in a functional model but the individual contribution of the allele to patient phenotype is not fully described [37].