Hypothesis

GroupID: 7

DiseaseAssertion: VHL

GroupSize: 5

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: Family of 5 VHL Type 1 affected individuals.

GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0005584; HP:0002668 (Retinal capillary hemangioma, Hemangioblastoma, Renal cell carcinoma, Paraganglioma)

GroupHPOFreeText: CNS hemangioblastoma (4/5 affected members), renal carcinoma (2/5 affected members) and retinal angioma (3/5 affected members). The proband presented with one tumor which biopsy showed to be a non-functional paraganglioma

GroupNotHPOs: HP:0002894; HP:0002666 (Neoplasm of the pancreas, Pheochromocytoma)

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R107P (c.320G>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 36900, https://www.ncbi.nlm.nih.gov/clinvar/variation/36900/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R107P (c.320G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:paraganglioma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:320 ProteinPosition:107 AminoAcidChange:ARGtoPRO ClinVarID:36900 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R107P(c.320G>C) FamilyCohort Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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