PatientID: VIII-I

KindredID: 8

Case: M, 20Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No family history reported.

CasePresentingHPOs: HP:0006748; HP:0030424 (adrenal pheochromocytoma, epididymal cyst)

CaseHPOFreeText: Patient first presented with adrenal pheochromocytoma and epididymal at age 20Y0M and was diagnosed with VHL type 2C (see table 2).

CaseNotHPOs: HP:0001737; HP:000107; HP:0005584; HP:0002668; HP:0030405 (pancreatic cysts; renal cyst; renal cell carcinoma; paraganglioma; pancreatic endocrine tumor)

CaseNotHPOFreeText: Patient negative for pancreatic cysts, pancreatic endocrine tumors, renal cell carcinoma, renal cysts, and paraganglioma.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R64P (c.191G>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: 2226, https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant, transversion

CivicName: R64P (c.191G>C)

MultipleGeneVariants: N/A

PatientID: 3

KindredID: 3

Case: 27Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: No family history

CasePresentingHPOs: HP:0010797; HP:0006770; HP:0001737; HP:0000107; HP:0030424 (hemangioblastoma; clear cell renal cell carcinoma; pancreatic cysts; renal cyst; epididymal cyst)

CaseHPOFreeText: Aged 20Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS angiomas diagnosed at 20, 25, and 26Y, pancreatic, renal, and epididymal cysts diagnosed at 25Y, ccRCC diagnosed at 27Y. (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R161* (c.481C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: R161* (c.481C>T)

MultipleGeneVariants: N/A