7 Matching Annotations
  1. Oct 2026
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 29 Oct 2026

      PatientID: None

      KindredID: 3618

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Familial VHL stated; although only 1 family member recorded.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0005584 (Pheochromocytoma, retinal capillary hemangioma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8956040

      SupplementalData: N/A

      Variant: p.C162W (c.486C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.C233W (c.699C>G)

      ClinVarID: 223227 https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: C162W (c.486C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ClinVarID:Yes ClinVarID:223227 InheritancePattern:AutosomalDominant NoFamilyInfo ProteinPosition:162 cDNAposition:486 CivicName:C162W(c.486C>G) AminoAcidChange:CYStoTYR MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  3. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. ClingenBaseline 28 Oct 2026
      Cys162Tyr

      GroupID/ KindredID: 18

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Chinese

      GroupAgeRange: N/A

      GroupInfo: With a family history, 2 family members were recorded in this group with the given mutation.

      GroupPresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (hemangioblastoma; renal cell carcinoma; pancreatic lesion)

      GroupHPOFreeText: both (2) members had CNS hemangioblastomas, 1 had RCC, 1 had a pancreatic abnormality

      GroupNotHPOs: HP:0009711; HP:0002666 (retinal capillary hemangioma; pheochromocytoma)

      GroupNotHPOFreeText: No family members appeared to have the above manifestations.

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162Y (c.485G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.C162Y (c.698G>A)

      ClinVarID: 223225 https://www.ncbi.nlm.nih.gov/clinvar/variation/223225/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: C162Y (c.485G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:renalcellcarcinoma RefSeq:AF010238.1 CivicName:C162Y(c.485G>A) cDNAposition:485 ProteinPosition:162 AminoAcidChange:CYStoTYR MutationType:missense_variant;transition ClinVarID:223225 ClinVarID:Yes Familial FamilyCohort Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00432-008-0399-x
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 28 Oct 2026

      GroupID/ KindredID: F61

      Case: Sex unknown, 15Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found of clear cell RCC

      CasePresentingHPOs: HP:0009711; HP:0002666; HP:0000107 (retinal capillary hemangioma, pheochromocytoma, renal cysts)

      CaseHPOFreeText: Unilateral pheo. Age of onset is 15Y0M.

      CaseNotHPOs: HP:0006880; HP:0006770; HP:0001737 (cerebellar hemangioblastoma, clear cell renal cell carcinoma, pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162Y (c.485G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223225 https://www.ncbi.nlm.nih.gov/clinvar/variation/223225/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: C162Y (c.485G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish Familial ExperimentalAssay MutationType:missense_variant;transition cDNAposition:485 CivicName:C162Y(c.485G>A) ProteinPosition:162 AminoAcidChange:CYStoTYR ClinVarID:223225 ClinVarID:Yes DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pheochromocytoma inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  5. academic.oup.com academic.oup.com
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
    1
    1. ClingenBaseline 27 Oct 2026
      B6 CHB 22 c.698G → A, C162Y No 2 y 7 m Nil No testing 

      Patient ID: B6

      KindredID: 6

      Case: F, 22Y0M, Ethnicity Unknown

      DiseaseAssertion: cerebellar hemangioblastoma

      FamilyInfo: No testing in family history

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 2 years and 7 month follow-up

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162Y (c.485G>A)

      LegacyVariant: p.C162Y (c.698G>A)

      ClinVarID: 223225 (https://www.ncbi.nlm.nih.gov/clinvar/variation/223225/)

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: C162Y(c.485G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:cerebellarhemangioblastoma Mutation:Germline cDNAposition:485 ProteinPosition:162 AminoAcidChange:CYStoTYR ClinVarID:223225 MutationType:missense_variant;transition CivicName:C162Y(c.485G>A) RefSeq:AF010238.1 AgeOfPresentation:cerebellarhemangioblastoma:22 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946
  6. 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 27 Oct 2026

      GroupID: 11

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 4 individuals from a single family (ID 11).

      GroupPresentingHPOs: HP:0010797 (Hemangioblastoma)

      GroupHPOFreeText: CNS hemangioblastoma (4/4).

      GroupNotHPOs: HP:0001732; HP:0005584; HP:0009711 (Abnormality of the pancreas, Renal cell carcinoma, Retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.C162Y (c.485G>A)

      LegacyVariant: c.698G>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223225, https://www.ncbi.nlm.nih.gov/clinvar/variation/223225/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: C162Y (c.485G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:485 ProteinPosition:162 AminoAcidChange:CYStoTYR ClinVarID:Yes ClinVarID:223225 MutationType:missense_variant;transition CivicName:C162Y(c.485G>A) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Endothelial Landscape and Its Role in Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 23 Oct 2026
      V#2exon 3c.485G > Ap.C162YCNS-HB

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.C162Y (c.485G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223225, https://www.ncbi.nlm.nih.gov/clinvar/variation/223225/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: C162Y (c.485G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 SupplementalData DiseaseEntity:VHL DiseaseEntity:hemangioblastoma NoFamilyInfo ProteinPosition:162 cDNAposition:485 AminoAcidChange:CYStoTYR ClinVarID:223225 ClinVarID:Yes MutationType:missense_variant;transition CivicName:C162Y(c.485G>A) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8465092/
  8. 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 23 Oct 2026

      GroupID: 11

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A GroupEthnicity: Japanese GroupAgeRange: N/A

      GroupInfo: The 4 patients are grouped based on both having the same mutation. They are unrelated to one another.

      GroupPresentingHPOs: HP:0010797 (Hemangioblastoma)

      GroupHPOFreeText: 4/4 patients in this group presented with CNS hemangioblastoma.

      GroupNotHPOs: HP:0002666; HP:0009711; HP:0005584 (Pheochromocytoma, Retinal capillary hemangioma, Renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 10761708

      SupplementalData: N/A

      Variant: p.C162Y (c.485G>A)

      LegacyVariant: p.C233Y (c.698G>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43604, https://www.ncbi.nlm.nih.gov/clinvar/variation/43604/

      CAID: N/A

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/3-10191492-G-T?dataset=gnomad_r2_1

      VariantEvidence: Nucleotide deletion (i.e. 698G>A) coincides with legacy variant nomenclature (i.e. AF010238.1) and was mapped to c.485G>A (NM_000551.3).

      MutationType: missense_variant;transition

      CivicName: C162Y (c.485G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:485 ProteinPosition:162 AminoAcidChange:CYStoTYR ClinVarID:43604 ClinVarID:Yes MutationType:missense_variant;transition CivicName:C162Y(c.485G>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8634692/