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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan
    1
    1. ClingenBaseline 12 Nov 2026

      PatientID: 26

      KindredID: 26

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0005584; HP:0010797 (Retinal capillary hemangioma, Renal cell carcinoma, Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma, retinal angioma and RCC.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 10761708 (variants differ by one base pair; unclear which is accurate)

      SupplementalData: N/A

      Variant: p.G144Ffs*26 (c.429_439del)

      LegacyVariant: codon 214 (nucleotide 642 11 base pair deletion)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106247, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573106247

      gnomAD: N/A

      VariantEvidence: Given that all other variants are reported in legacy variant nomenclature (i.e. AF010238.1) this variant was mapped to c.429_439del (NM_000551.3).

      MutationType: minus_2_frameshift_variant; deletion

      CivicName: G144fs (c.429_439del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:429 ProteinPosition:144 AminoAcidChange:GLYtoPHE ClinVarID:N/A CAID:CA2573106247 MutationType:minus_2_frameshift_variant MutationType:deletion NoFamilyInfo CivicName:G144fs(c.429_439del) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8634692/