Hypothesis

3 (4%) had non-coding sequence variants in either the 5′ untranslated region (UTR) or intronic regions.

PatientID: 13

KindredID: 13

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0006770; 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: c.463+37_463+39del

LegacyVariant: N/A

CaseProblemVariantFreeText: recorded in paper as: Intron 2 +37-39 del TGT. Contacted authors for clarification and confirmation of c.463+37_463+39del

ClinVarID: 223218 https://www.ncbi.nlm.nih.gov/clinvar/variation/223218/

CAID: N/A

gnomAD: 0.0003606 https://gnomad.broadinstitute.org/variant/3-10188351-GGTT-G

VariantEvidence: N/A

MutationType: inframe_insertion 

CivicName: c.463+37_463+39del

MultipleGeneVariants: N/A

DiseaseEntity:hemangioblastoma DiseaseEntity:VHL cDNAposition:463 ClinVarID:223218 ClinVarID:Yes MutationType:inframe_insertion CivicName:c.463+37_463+39del NoFamilyInfo Mutation:Germline SupplementalData RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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