1 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Gene symbol: VHL. Disease: pancreatic cancer
    1
    1. ClingenBaseline 05 Nov 2026

      GroupID: None

      DiseaseAssertion: Pancreatic cancer

      GroupSize: N/A GroupNumberMales: N/A GroupNumberFemales: N/A GroupEthnicity: N/A GroupAgeRange: N/A

      GroupInfo: N/A

      GroupPresentingHPOs: HP:0002894 (Neoplasm of the pancreas)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111I (c.332G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText:

      ClinVarID: 223185, https://www.ncbi.nlm.nih.gov/clinvar/variation/223185/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Unclear if the variant is somatic or germline. Unclear if this variant is found in a single person or a family/group. Accession number: H971583.

      MutationType: missense_variant;transversion

      CivicName: S111I (c.332G>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:neoplasmofthepancreas AssumedRefSeq:NM_000551.3 cDNAposition:332 ProteinPosition:111 AminoAcidChange:SERtoILE ClinVarID:223185 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:S111I(c.332G>T) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10942118/