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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 26 Oct 2026

      GroupID: 63

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 3 individuals from a single family (ID 63).

      GroupPresentingHPOs: HP:0001732; HP:0005584; HP:0010797 (Abnormality of the pancreas, Renal cell carcinoma, Hemangioblastoma)

      GroupHPOFreeText: CNS hemangioblastoma (2/3), renal cell carcinoma (3/3) and pancreatic cyst or tumor (unspecified) (1/3).

      GroupNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S168Tfs*2 (c.503_513del)

      LegacyVariant: c.716_726del (c.716del11bp)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131812, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131812

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: S168Tfs*2 (c.503_513del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:503 ProteinPosition:168 AminoAcidChange:SERtoTHR ClinVarID:N/A CAID:CA2573131812 MutationType:minus_2_frameshift_variant MutationType:deletion CivicName:S168Tfs*2(c.503_513del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/