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  2. academic.oup.com academic.oup.com
    In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease
    1
    1. ClingenBaseline 30 Oct 2026
      L101G (20) 2 

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize:2

      GroupNumberMales:N/A

      GroupNumberFemales:N/A

      GroupEthnicity: N/A

      GroupAgeRange: ≥12

      GroupInfo: The two patients were grouped by mutation.

      GroupPresentingHPOs: HP:0001732 (abnormality of the pancreas)

      GroupHPOFreeText: N/A

      GroupNotHPOs:N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished:N/A

      SupplementalData: N/A

      Variant: p.L101G(c.301_302delinsGG)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID:CA915940707 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.301_302delinsGG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName:L101G (c.301_302delCTinsGG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL ClinVarID:N/A CAID:CA915940707 cDNAposition:301 ProteinPosition:101 AminoAcidChange:LEUtoGLY CivicName:L101G(c.301_302delCTinsGG) NoFamilyInfo mutationtype:delins DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/103/4/1631/4774929