PatientID: 16

KindredID: 16

Case: F, 50Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009726; HP:0010797 (Renal neoplasm, Hemangioblastoma)

CaseHPOFreeText: Patient 16 had genetic testing and was found to have a germline mutation c.286C>T (Gln96*).

CaseNotHPOs:None

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q96* (c.286C>T)

LegacyVariant: c.499C>T

CaseProblemVariantFreeText: N/A

ClinVar: 428804, https://www.ncbi.nlm.nih.gov/clinvar/variation/428804/

CAID: CA351750811

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transition

CivicName: Q96* (c.286C>T)

MultipleGeneVariants: N/A

GroupID/ KindredID: F66

Case: Sex unknown, 12Y0M, Spanish

DiseaseAssertion: assumed VHL

FamilyInfo: familial antecedents found of pancreatic cysts

CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

CaseHPOFreeText: Multiple lesions on their retinal hemangioblastoma. Age of onset is 12Y0M.

CaseNotHPOs: HP:0006880; HP:0002666; HP:0000107; HP:0001737; HP:0006770 (cerebellar hemangioblastoma, pheochromocytoma, renal cysts, pancreatic cysts, clear cell renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q96* (c.286C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 428804 https://www.ncbi.nlm.nih.gov/clinvar/variation/428804/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: Q96* (c.286C>T)

MultipleGeneVariants: N/A