PatientID: None

KindredID: 23

Case: Sex and Ethnicity unknown; Age >18Y0M

DiseaseAssertion: assumed VHL

FamilyInfo: Total of 3 family members belonging to Family 23 (see Table 2; or follow KindredID 23). The 2 other members were found to be asymptomatic.

CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cyst, renal cell carcinoma)

CaseHPOFreeText: At initial screening (and same by final 5 year follow up) patient was found with 2 HB, bilateral retinal capillary hemangioma, a renal cyst, and RCC.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.E134* (c.400G>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 1069709 https://www.ncbi.nlm.nih.gov/clinvar/variation/1069709/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: E134* (c.400G>T)

MultipleGeneVariants: N/A

GroupID: 24

Case: 25Y0M, Sex Unknown, Ethnicity Unknown

DiseaseAssertion: cerebellar hemangioblastoma

FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: patient had cerebellar hemangioblastoma diagnosed at 25Y

CaseNotHPOs: HP:0009711; HP:0005584; HP:0002666 (retinal capillary hemangioma; renal cell carcinoma; pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.E134* (c.400G>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 1069709 https://www.ncbi.nlm.nih.gov/clinvar/variation/1069709/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: E134* (c.400G>T)

MultipleGeneVariants: N/A