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  2. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
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    1. ClingenBaseline 12 Nov 2026
      26 c.393CC>A p.Asn131fs p.N131fs Familial VHL

      GroupID/ KindredID: 26

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 registrants belonging to the same family (26) have the germline VHL mutation.

      GroupPresentingHPOs: HP:0009711; HP:0000107; HP:0001737 (retinal capillary hemangioma, renal cyst, pancreatic cysts)

      GroupHPOFreeText: both 2 members had retinal hemangioblastomas, 1 had renal cysts, and 2 had pancreatic cysts

      GroupNotHPOs: HP:0010797; HP:0005584; HP:0002666 (hemangioblastoma, renal cell carcinoma, pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N131Kfs*28 (c.393_394delinsA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2573050931 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.393_394delinsA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName: N131fs (c.393_394delinsA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts Mutation:Germline RefSeq:NM_000551.2 MutationType:delins CAID:CA2573050931 ClinVarID:N/A ProteinPosition:131 AminoAcidChange:ASNtoLYS cDNAposition:393 CivicName:N131fs(c.393_394delinsA) InheritancePattern:AutosomalDominant Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/j.1399-0004.2007.00827.x