Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.
GroupID/ KindredID: 146CA
DiseaseAssertion: VHL
GroupSize: N/A
GroupNumberMales: N/A
GroupNumberFemales: N/A
GroupEthnicity: N/A
GroupAgeRange: N/A
GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to family ID Family 146CA. Table 5 lists all ID and mutations associated with individuals without detailed clinical information.
GroupPresentingHPOs: N/A
GroupHPOFreeText: Described as multiple VHL families without detailed clinical information. Other phenotypes are possible, however not detailed here.
GroupNotHPOs: N/A
GroupNotHPOFreeText: N/A
GroupPreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.A56Sfs*76 (c.165_166insA)
LegacyVariant: FS (c.378insA)
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA645524648 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.165_166insA
gnomAD: N/A
VariantEvidence: N/A
MutationType: plus_1_frameshift_variant
CivicName: A56fs (c.165_166insA)
MultipleGeneVariants: N/A