PatientID: None

KindredID: 1

Case: F, 28Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No other family members presented any signs of VHL disease. DNA was available from her sister (32 years), brother (29 years) and mother (55 years). The patient’s father died from a myocardial infarction at the age of 58 years. Suggesting de novo but unclear with no test on father

CasePresentingHPOs: HP:0010797, HP:0006880, HP:0001737, HP:0009711 (hemangioblastoma, cerebellar hemangioblastoma, pancreatic cysts, retinal capillary hemangioma)

CaseHPOFreeText: at age 28, the patient presented with neurological symptoms from two hemangioblastomas (cerebellar and cerebro-spinal).

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: L140Pfs*4 (c.418dup)

CaseProblemVariantFreeText: N/A

LegacyVariant: c.631_632insC

ClinVar: N/A

CAID: CA432421871 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.418dup

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant

CivicName: L140fs (c.418dup)

MultipleGeneVariants: N/A