35 (45%) had missense variants,
PatientID: 40
KindredID: 40
Case: Sex Unknown, Age Unknown, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)
CaseHPOFreeText: patient had pheochromocytoma/paraganglioma (recorded here as a neuroendocrine neoplasm)
CaseNotHPOs: HP:0010797; HP:0006770; HP:0030405; HP:0009711; HP:0030421 (hemangioblastoma; clear cell renal cell carcinoma; pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.
Variant: p.V84L (c.250G>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: V84L (c.250G>T)
MultipleGeneVariants: N/A