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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 05 Nov 2026

      GroupID/ KindredID: VHL 45

      Case: Sex unknown, Age unknown, German

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 45

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+1G>C

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 676+1G>C

      ClinVarID: 223217 https://www.ncbi.nlm.nih.gov/clinvar/variation/223217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.463+1G>C)

      MultipleGeneVariants: N/A

      Mutation:Germline Ethnicity:German DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts RefSeq:AF010238.1 CivicName:SpliceSite(c.463+1G>A) cDNAposition:463 MutationType:splice_site_variant ClinVarID:223217 ClinVarID:Yes InheritancePattern:AutosomalDominant NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8707293/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: 242

      KindredID: 242

      Case: Sex Unknown, 8Y0M, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Indication of family history.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711, HP:0001737, HP:0002666, HP:0006770, HP:0000107, HP:0010797 (retinal capillary hemangioma, pancreatic cyst, pheochromocytoma, clear cell renal cell carcinoma, renal cyst, hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2, S3.

      Variant: c.463+1G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 526679 https://www.ncbi.nlm.nih.gov/clinvar/variation/526679/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The variant was found to affect the B-domain and disrupt donor splice site intron 2 and lead to abnormal protein folding. The variant was predicted pathogenic.

      MutationType: splice_site_variant

      CivicName: c.463+1G>A

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic DiseaseEntity:VHL Familial cDNAposition:463 AminoAcidChange:N/A ProteinPosition:N/A ClinVarID:N/A InheritancePattern:AutosomalDominant Mutation:Germline MutationType:splice_site_variant RefSeq:NM_000551.3 SupplementalData ClinVarID:526679 CivicName:SpliceSite(c.463+1G>A) ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/