Hypothesis

c.-213-?_463 + ?del4 (5%)145 (38–48)HBr, HBc, HBsc, RCC, PNET, Cr, Cp

GroupID: 2

DiseaseAssertion: VHL

GroupSize: 4 GroupNumberMales: N/A GroupNumberFemales: N/A GroupEthnicity: unknown GroupAgeRange: 38-48

GroupInfo: 4 out of 82 individuals were grouped together based on all having the c.-213-?_463+?del mutation of the VHL gene. This group was classified as VHL Type 1.

GroupPresentingHPOs: HP:0009711; HP:0006880; HP:0009713; HP:0005584; HP:0030405; HP:0000107; HP:0001737 (Retinal capillary hemangioma, Cerebellar hemangioblastoma, Spinal hemangioblastoma, Renal cell carcinoma, Pancreatic endocrine tumor, Renal cyst, Pancreatic cysts)

GroupHPOFreeText: N/A

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: 24132471

SupplementalData: N/A

Variant: c.-213-?_463+?del

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: deletion; splice_site_variant

CivicName: c.-213-?_463+?del

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor AssumedRefSeq:NM_000551.3 ClinVarID:N/A UnregisteredVariant CivicName:c.-213-?_463+?del cDNAposition:-213 MutationType:splice_site_variant MutationType:deletion ProteinPosition:N/A inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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