{{Rsnum
|rsid=193922613
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=VHL
|position=10149847
|Gene_s=VHL
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922613
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=10191531
|CHROM=3
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.10191531A>G
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Von Hippel-Lindau syndrome
|Disease=Von Hippel-Lindau syndrome
|Tags=PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000030589.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1463:C0019562:193300:892:46659004
|GENEINFO=VHL:7428
|GENE_ID=7428
|GENE_NAME=VHL
}}{{PMID|14722919}} Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

{{PMID|15642680}} Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

{{PMID|16210343}} Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

{{PMID|17640059}} Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia.