2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
    1
    1. ClingenBaseline 04 Nov 2026
      missense

      PatientID: 56

      KindredID: None

      Case: Age and Sex unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0000107; HP:0009711; HP:0005584 (hemangioblastoma, pancreatic cysts, renal cyst, retinal capillary hemangioma, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0030405; HP:0030393 (Pheochromocytoma, Pancreatic endocrine tumour, Endolymphatic sac tumour)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; See Suppl 1 (Supporting table)

      Variant: p.N131K (c.393C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351753948 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.393C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N131K (c.393C>G)

      MultipleGeneVariants: N/A

      Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:393 CivicName:N131K(c.393C>G) AminoAcidChange:ASNtoLYS ProteinPosition:131 ClinVarID:N/A CAID:CA351753948 SupplementalData MutationType:missense_variant;transversion NoFamilyInfo ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4986176/
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
    1
    1. ClingenBaseline 25 Oct 2026
      missense

      Through blood sample testing, ten affected individuals from 7 families in Singapore were identified with VHL disease. One patient of Chinese ethnicity was found with the c.393C>G (p.Asn131Lys) mutation in the VHL gene and presented with CNS hemangioblastoma, retinal angioma, renal cell carcinoma, renal cysts, and pancreatic cysts. ACMG: PP2, PP4

      ClinVarID:N/A EvidenceStatement CAID:CA351753948 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4986176/