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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
    2
    1. ClingenBaseline 21 Oct 2026
      A149S (34) 4 

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales:N/A

      GroupNumberFemales:N/A

      GroupEthnicity: N/A

      GroupAgeRange: ≥12

      GroupInfo: The four 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.A149S (c.445G>T)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:127829 https://www.ncbi.nlm.nih.gov/clinvar/variation/127829/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: A149S (c.445G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoSER CivicName:A149S(c.445G>T) MutationType:missense_variant;transversion NoFamilyInfo ClinVarID:127829 ClinVarID:Yes DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      A149S (34) 4 

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales:N/A

      GroupNumberFemales:N/A

      GroupEthnicity: N/A

      GroupAgeRange: ≥12

      GroupInfo: The four 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.A149S (c.445G>T)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:127829 https://www.ncbi.nlm.nih.gov/clinvar/variation/127829/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: A149S (c.445G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoSER CivicName:A149S(c.445G>T) MutationType:missense_variant;transversion NoFamilyInfo ClinVarID:127829 ClinVarID:Yes DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/103/4/1631/4774929