Hypothesis

We observed 10 different intragenic mutations in 10/15 (66.7%) patients: five missense mutations

PatientID: 7

KindredID: 7

Case: F, 30Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: None. Sporadic

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

CaseHPOFreeText: Bilateral involvements of renal cell carcinomas (See table 1). 'Other' phenotypes found in patient. These are noted in the paper to include: pancreatic neuroendocrine tumors (PNETs), renal and pancreatic cysts and central nervous system tumors, although it is not clearly stated that patient has all. (See Table 1).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.C162R (c.484T>C)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVar: 496067 https://www.ncbi.nlm.nih.gov/clinvar/variation/496067/

CAID: CA351756117 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.484T%3EC

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: C162R (c.484T>C)

MultipleGeneVariants: N/A

Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.2 cDNAposition:484 ProteinPosition:162 CivicName:C162R(c.484T>C) CAID:CA351756117 AminoAcidChange:CYStoARG MutationType:missense_variant;transition NoFamilyInfo ClinVarID:496067 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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