Hypothesis

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GroupID: 10

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

CohortInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

CasePresentingHPOs: N/A

CaseHPOFreeText: This individual patient did NOT have retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes - Supplementary Table S1

Variant: p.F136Lfs*23 (c.408delT)

LegacyVariant: N/A

GroupProblemVariantFreeText: N/A

ClinVarID: 43601 https://www.ncbi.nlm.nih.gov/clinvar/variation/43601/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: F136LFS*23 (c.408del)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL ProteinPosition:136 cDNAposition:408 CivicName:F136fs(c.408delT) AminoAcidChange:PHEtoLEU MutationType:minus_1_frameshift_variant SupplementalData NoFamilyInfo ClinVarID:43601 ClinVarID:Yes CivicName:F136LFS*23(c.408del) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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