PatientID: 10

KindredID: 10

Case: F, 58Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0005562; HP:0001737; HP:0009715; HP:0006770 (Multiple renal cysts, Pancreatic cysts, Papillary cystadenoma of the epididymis, Clear cell renal cell carcinoma)

CaseHPOFreeText: Patient 10 was a 58-year-old female with a medical history of clear cell renal cell carcinomas, multiple renal cysts, pancreatic cyst, epididymal cystadenomas.

CaseNotHPOs:None

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q73* (c.217C>T)

LegacyVariant: c.430C>T

CaseProblemVariant Free Text: N/A

ClinVar: 223164, https://www.ncbi.nlm.nih.gov/clinvar/variation/ 223164/

CAID: CA357036

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transition

CivicName: Q73* (c.217C>T)

MultipleGeneVariants: N/A

PatientID: 10

KindredID: 2735

Case: F, 20Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

CaseHPOFreeText: She presented with one pathologic pancreatic endocrine tumour.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q73* (c.217C>T)

LegacyVariant: p.Q73* (c.430C>T)

CaseProblemVariantFreeText: N/A

ClinVar: 223164 https://www.ncbi.nlm.nih.gov/clinvar/variation/223164/

CAID: CA357036 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.217C%3ET

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: Q73* (c.217C>T)

MultipleGeneVariants: N/A