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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 23 Oct 2026

      GroupID: 90

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 2 individuals from a single family (ID 90).

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

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

      GroupNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96del (c.287_289del)

      LegacyVariant: c.498_500del

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA645524809, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.287_289del

      gnomAD: N/A

      VariantEvidence: Variant reported as c.498_500del and mapped to c.285_287del which is equivalent to c.287_289del.

      MutationType: deletion; inframe_deletion

      CivicName: Q96del (c.287_289del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:287 ProteinPosition:96 AminoAcidChange:N/A ClinVarID:N/A CAID:CA645524809 MutationType:inframe_deletion MutationType:deletion CivicName:Q96del(c.287_289del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/