Hypothesis

GroupID: 1

DiseaseAssertion: assumed VHL

GroupSize: 113

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 113 of the 573 patients discussed in this paper were found to have the following mutation belonging to 39 families altogether

GroupPresentingHPOs: HP:0005584; HP:0006880; HP:0009711; HP:0002666 (renal cell carcinoma; cerebellar hemangioblastoma; retinal capillary hemangioma; pheochromocytoma)

GroupHPOFreeText: 68 patients had retinal angiomas diagnosed at a mean age of 25Y, 61 had cerebellar hemangioblastomas diagnosed ad a mean age of 31Y, 34 had RCC diagnosed at a mean age of 45Y, and 4 had pheochromocytoma diagnosed at a mean age of 33Y

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: exonic deletions

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: deletion

CivicName: Exon Deletion

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma DiseaseEntity:cerebellarhemangioblastoma MutationType:exon_loss_variant MutationType:deletion CivicName:ExonDeletion Mutation:Germline RefSeq:NM_000551.2 ExperimentalAssay SupplementalData Familial CAID:N/A ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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