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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 04 Nov 2026

      PatientID: 107

      KindredID: 36

      Case: M, 18Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband's mother presented with a CNS hemangioblastoma and retinal angioma at age 29, but passed away before the mutation could be confirmed.

      CasePresentingHPOs: HP:0010797; HP:0009711 (Hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma and retinal angioma at age 18.

      CaseNotHPOs: HP:0005584; HP:0001737; HP:0001732; HP:0002666 (Renal cell carcinoma, Pancreatic cysts, Abnormality of the pancreas, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.H110Pfs*49 (c.329delA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 560741, https://www.ncbi.nlm.nih.gov/clinvar/variation/560741/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H110PFS*49 (c.329delA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:18 AgeOfPresentation:retinalcapillaryhemangioma:18 MutationType:minus_1_frameshift_variant ClinVarID:560741 ClinVarID:Yes cDNAposition:329 ProteinPosition:110 AminoAcidChange:HIStoPRO CivicName:H110PFS*49(c.329delA) SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Differences in genetic and epigenetic alterations between von Hippel–Lindau disease–related and sporadic hemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 31 Oct 2026
      V5-135MCerebellumc.329A>C———−247MCerebellumc.329A>C———

      PatientID: V5

      KindredID: 3

      Case: M, 47Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Sister presented with the same germline mutation and at least one cerebellar hemangioblastoma at the age of 29.

      CasePresentingHPOs: HP:0006880(Cerebellar hemangioblastoma)

      CaseHPOFreeText: Presented with at least two brainstem hemangioblastoma at the age of 35 and and 47.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H110P (c.329A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751310, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351751310

      gnomAD: N/A

      VariantEvidence: The c.329A>C variant was not genetically confirmed to be germline but was found in samples from both tumors presented by this patient.

      MutationType: missense_variant;transversion

      CivicName: H110P (c.329A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:35 AgeOfPresentation:cerebellarhemangioblastoma:47 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:329 ProteinPosition:110 AminoAcidChange:HIStoPRO ClinVarID:N/A CAID:CA351751310 MutationType:missense_variant;transversion CivicName:H110P(c.329A>C) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5570160/