Families with VHL disease type 2A were were evaluated for mutations in the VHL gene. In four families, three different coding sequence substitutions causing a 15 amino-acid extension from the original stop codon of the VHL gene were described. Genomic DNA was extracted from peripheral blood lymphocytes using standard procedures. Sequence analysis consisted of polymerase chain reaction (PCR) amplification and automated fluorescence sequencing of all three VHL exons. Patient 4, a 32Y female, presented with a pheochromocytoma and pancreatic cysts. No age at diagnosis was provided, but she was genetically tested and was found to have a c.642A>G (p.*214Trpext*14) mutation in the VHL gene (noted as p.*214Trpext*15 in the paper due to a difference in nomenclature). Family history is not available for this patient.

PatientID: None

KindredID: 4

Case: F, 32Y0M, Ethnicity Unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0002666; HP:0001737 (Pheochromocytoma, pancreatic cyst)

CaseHPOFreeText: The patient presented with pheochromocytoma and pancreatic cysts. The age of diagnosis was not specified.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.*214Trpt*14(c.642A>G)

LegacyVariant: N/A

ClinVarID: 625269, http://www.ncbi.nlm.nih.gov/clinvar/variation/625269

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_loss

CivicName: *214Trpt*14(c.642A>G)

MultipleGeneVariants: N/A