A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, this frameshift mutation p.R205Hfs*50 (c.612_613delGC) was found in a VHL patient without retinal hemangioblastomas. Other manifestations are not clearly stated. No family information was provided.

GroupID: 54

Case: Age unknown, Sex unknown, French

DiseaseAssertion: VHL

FamilyInfo: None - one member documented here

CasePresentingHPOs: N/A

CaseHPOFreeText: other manifestations are not clearly stated.

CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R205Hfs*50 (c.612_613delGC)

CaseProblemVariantFreeText: c.612_613delGC automaps to NM_000551.3:c.614_615delGC

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA020525 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.612_613delGC

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: R205fs (c.614_615delGC)

MultipleGeneVariants: N/A