93 families examined at the Clinical Center of the National Institutes of Health (Bethesda, MD) underwent genetic testing for germline mutations of the VHL gene. Whole blood was extracted and genomic DNA was amplified by PCR and products were sequences using a cycle sequencing kit with dye-labeled terminators and automatically sequenced. VHL Family 174 was found to have the c.543_544CA>TT (S111C) germline variant of the VHL gene. The number of family members included in this study is not specified. This family was diagnosed with VHL Type 2 (with pheochromocytoma). Other phenotypes of family details were not provided.

GroupID: 174

DiseaseAssertion: VHL

GroupSize: N/A

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: VHL family found to have the c.543_544CA>TT (S111C) germline variant of the VHL gene. The number of family members included in this study is not specified.

GroupPresentingHPOs: HP:0002666 (Pheochromocytoma)

GroupHPOFreeText: Number of family affected members is not specified.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S111C (c.330_331delinsTT)

LegacyVariant: c.543_544CA>TT

CaseProblemVariantFreeText:

ClinVarID: N/A

CAID: CA2573106137, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.330_331delinsTT

gnomAD: N/A

VariantEvidence: N/A

MutationType: delins

CivicName: S111C (c.330_331delinsTT)

MultipleGeneVariants: N/A