Hypothesis

missense variants

PatientID: 73

KindredID: 73

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma; retinal capillary hemangioma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0100634; HP:0030405; HP:0030421; HP:0006770 (Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, Epididymal neoplasm; clear cell renal cell carcinoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

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

Variant: p.L128Ffs*31 (c.381del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625241 https://www.ncbi.nlm.nih.gov/clinvar/variation/625241/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: L128Ffs*31 (c.381del)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma NoFamilyInfo SupplementalData Mutation:Germline RefSeq:NM_000551.3 ClinVarID:625241 ClinVarID:Yes MutationType:minus_1_frameshift_variant ProteinPosition:128 cDNAposition:381 AminoAcidChange:LEUtoPHE CivicName:L128Ffs*31(c.381del) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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