PatientID: None

KindredID: 16

Case: Sex Unknown, 30Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: All VHL mutation carriers of 18 years or older who underwent surveillance according to Dutch VHL guidelines between 1972 and 2012 in the VHL expertise centers University Medical Center Groningen (UMCG) and University Medical Center Utrecht (UMCU) were included. Patients with VHL-disease subtype 2C (pheochromocytoma only) were excluded.

CasePresentingHPOs: HP:0006880; HP:0000107 (Cerebellar hemangioblastoma, Renal cyst)

CaseHPOFreeText: VHL Type 1.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 24132471

SupplementalData: Table 1

Variant: p.E189Kfs*13 (c.565del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625267, https://www.ncbi.nlm.nih.gov/clinvar/variation/625267/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant; deletion

CivicName: E189fs (c.565del)

MultipleGeneVariants: N/A

KindredID: 19

DiseaseAssertion: VHL

GroupSize: Unknown

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: This is a family belonging to prefigure No. 19. They are described as ‘VHL-affected’.

GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S65* (c.189_192del)

LegacyVariant: p.136fs* (c.402_405del4)

CaseProblemVariantFreeText: N/A

ClinVarID: 223205 https://www.ncbi.nlm.nih.gov/clinvar/variation/223205/

CAID: N/A

gnomAD: N/A

VariantEvidence:N/A

MutationType: minus_1_frameshift; stop_gained

CivicName: S65* (c.189_192del)

MultipleGeneVariants: N/A