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Details of Gene

Item Details
Gene/Locus name

VHL (also called VHL1)

Long Name

von Hippel-Lindau tumor suppressor (OMIM 608537)

Laboratories
Associated Disorders

OMIM (n/a) : BAD DATA OMIM 193300 : von Hippel-Lindau syndrome
OMIM 171300 : Pheochromocytoma
OMIM 263400 : Erythrocytosis, familial, 2
OMIM 144700 : Renal cell carcinoma, somatic

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date

6/12/2018