Hypothesis

GroupID: 22

DiseaseAssertion: assumed VHL

GroupSize: 3

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 3 of the 573 patients discussed in this paper were found to have the following mutation belonging to 1 family.

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

GroupHPOFreeText: 1 patient had retinal angiomas diagnosed at the age of 15Y, 1 had cerebellar hemangioblastomas diagnosed at 20Y, and 1 member had RCC diagnosed at 38Y.

GroupNotHPOs: HP:0002666 (pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.H125Qfs*7 (c.374dupA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2499307153 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499307153

gnomAD: N/A

VariantEvidence: N/A

MutationType: duplication

CivicName: H125fs (c.374insA)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:15 AgeOfPresentation:renalcellcarcinoma:38 AgeOfPresentation:cerebellarhemangioblastoma:20 CAID:CA2499307153 ClinVarID:N/A RefSeq:NM_000551.2 Mutation:Germline MutationType:duplication cDNAposition:374 AminoAcidChange:HIStoGLN ProteinPosition:125 CivicName:H125fs(c.374insA) ExperimentalAssay SupplementalData Familial FamilyCohort InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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