Hypothesis

nilateral PHEOs (Fig. 1a): her father (II:1) at age 73

PatientID: II:1

KindredID: 1

Case: M, 73Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Look to proband (III:3) for extensive family info.

CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

CasePresentingHPOs: HP:0002666; HP:0009713 (Pheochromocytoma, Spinal hemangioblastoma)

CaseHPOFreeText: Deceased. Multiple spinal cord hemangioblastomas diagnosed after adrenal tumor resection. Unilateral pheochromocytoma diagnosed at age 73. Diagnosed with VHL type 2A.

CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Figure 1

Variant: p.P138= (c.414A>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P138= (c.414A>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntityspinalhemangioblastoma AgeOfPresentation:pheochromocytoma:73 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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