Hypothesis

Table 1)

PatientID: N/A

KindredID: 7

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: assumed VHL

FamilyInfo: Family history not specified, but previously published paper (PMID: 20151405) states familial VHL. Patient’s variant reported as germline.

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

CaseHPOFreeText: Patient had CNS HB, RA and a Grawitz tumor (RCC) (see table 1)

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: 20151405

SupplementalData: N/A

Variant: p.F76del (c.227_229del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_deletion

CivicName: F76del (c.227_229del)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:renalcellcarcinoma AssumedRefSeq:NM_000551.3 Mutation:Germline MutationType:inframe_deletion cDNAposition:227 ProteinPosition:76 PreviouslyPublished:20151405 CivicName:F76del(c.227_229del) Familial CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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