{{Rsnum
|rsid=104893830
|Chromosome=3
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=VHL
|position=10146561
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=VHL
}}{{omim
|id=608537
|rsnum=104893830
|variant=0021
}}{{ClinVar
|rsid=104893830
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=10188245
|CHROM=3
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=VHL:7428
|GENE_NAME=VHL
|GENE_ID=7428
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.10188245G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608537.0021
|CLNSIG=5
|CLNCUI=C1837915
|CLNDBN=Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome
|Disease=Erythrocytosis; Von Hippel-Lindau syndrome
|CLNACC=RCV000002317.1; RCV000030586.1
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1837915:263400:238557; NBK1463:C0019562:193300:892:46659004
}}{{PMID Auto
|PMID=818706
|Title=Hepatocellular transplantation for metabolic deficiencies: decrease of plasms bilirubin in Gunn rats.
}}

{{PMID Auto
|PMID=8956040
|Title=Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
}}

{{PMID Auto
|PMID=11921283
|Title=Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.
}}

{{PMID Auto
|PMID=12393546
|Title=Mutations in the VHL gene in sporadic apparently congenital polycythemia.
}}

{{PMID Auto
|PMID=15300849
|Title=Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
}}

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