Hypothesis

16 different families

PatientID: XV-I

KindredID: 15

Case: F, 24Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No family history reported.

CasePresentingHPOs: HP:0005584; HP:0000107; HP:0006880; HP:0009711; HP:0030405; HP:0001737; HP:0025247 (renal cell carcinoma, renal cysts, cerebellar hemangioblastoma, retinal capillary hemangioma, pancreatic endocrine tumor, pancreatic cysts, dermoid cyst)

CaseHPOFreeText: Patient presented with renal cell carcinoma, renal cysts, cerebellar hemangioblastoma, retinal capillary hemangioma, pancreatic endocrine tumor, pancreatic cysts, dermoid cyst at age 24Y0M. Patient was diagnosed with VHL type 1 (see table 2).

CaseNotHPOs: HP:0006748; HP:0002668 (adrenal pheochromocytoma; paraganglioma)

CaseNotHPOFreeText: Patient negative for adrenal pheochromocytoma and paraganglioma.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S65W (c.194C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 43597, www.ncbi.nlm.nih.gov/clinvar/variation/43597/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant, transversion

CivicName: S65W (c.194C>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:dermoidcyst CivicName:S65W(c.194C>G) cDNAPosition:194 ProteinPosition:65 AminoAcidChange:SERtoTRP ClinVarID:Yes ClinVarID:43597 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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