Hypothesis

17 (22%) had frameshift variants

PatientID: 45

KindredID: 45

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0006770 (hemangioblastoma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0010797; HP:0100634; HP:0030405; HP:0009711; HP:0030421 (clear cell renal cell carcinoma; Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

Variant: p.L140Qfs*3 (c.419_420delTC)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223207 https://www.ncbi.nlm.nih.gov/clinvar/variation/223207/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: L140fs*3 (c.419_420delTC)

MultipleGeneVariants: N/A

CivicName:L140fs*3(c.419_420delTC) MutationType:minus_2_frameshift_variant cDNAposition:418 ProteinPosition:140 ClinVarID:223207 AminoAcidChange:LEUtoGLN ClinVarID:Yes DiseaseEntity:VHL SupplementalData NoFamilyInfo Mutation:Germline DiseaseEntity:hemangioblastoma RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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