16 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    2
    1. ClingenBaseline 21 Oct 2026
      2 France c.583C>T p.Gln195*

      GroupID: 35

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Two registrants from France both have the same mutation of c.583C>T.

      GroupPresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q195* (c.583C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 428794 https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q195* (c.583C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 cDNAposition:583 ProteinPosition:195 AminoAcidChange:GLNtoTER ClinVarID:428794 CAID:CA70052558 MutationType:stop_gained CivicName:Q195*(c.583C>T) ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      2 France c.583C>T p.Gln195*

      GroupID: 35

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Two registrants from France both have the same mutation of c.583C>T.

      GroupPresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q195* (c.583C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 428794 https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q195* (c.583C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 cDNAposition:583 ProteinPosition:195 AminoAcidChange:GLNtoTER ClinVarID:428794 CAID:CA70052558 MutationType:stop_gained CivicName:Q195*(c.583C>T) ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067
  3. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    2
    1. ClingenBaseline 21 Oct 2026
      The genotype and phenotype in the large Chinese family with VHL disease. a The pedigree of the family 6 with 18 affected patients. b DNA sequence analysis showing a A–G transition at nucleotide 446. The change results in the mutation from Asn to Ser in codon78.

      PatientID: IV-13

      GroupID/ KindredID: 6

      Case: Age unknown, M, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: Positive - 22 family members were recorded with the given mutation. 18 had VHL manifestations while 4, including this patient, are asymptomatic carriers. See pedigree (Fig 3.), or follow GroupID/KindredID: 6

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797; HP:0002666; HP:0009711; HP:0005584; HP:0001732 (hemangioblastoma, pheochromocytoma, retinal capillary hemangioma, Renal cell carcinoma,abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: Named a carrier as positively tested without symptoms

      LegacyVariant: p.N78S (c.446A>G)

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic RefSeq:AF010238.1 ProteinPosition:78 CivicName:N78S(c.233A>G) cDNAposition:233 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition ClinVarID:93326 ClinVarID:Yes Familial FamilyPedigree InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      The genotype and phenotype in the large Chinese family with VHL disease. a The pedigree of the family 6 with 18 affected patients. b DNA sequence analysis showing a A–G transition at nucleotide 446. The change results in the mutation from Asn to Ser in codon78.

      PatientID: IV-13

      GroupID/ KindredID: 6

      Case: Age unknown, M, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: Positive - 22 family members were recorded with the given mutation. 18 had VHL manifestations while 4, including this patient, are asymptomatic carriers. See pedigree (Fig 3.), or follow GroupID/KindredID: 6

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797; HP:0002666; HP:0009711; HP:0005584; HP:0001732 (hemangioblastoma, pheochromocytoma, retinal capillary hemangioma, Renal cell carcinoma,abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: Named a carrier as positively tested without symptoms

      LegacyVariant: p.N78S (c.446A>G)

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic RefSeq:AF010238.1 ProteinPosition:78 CivicName:N78S(c.233A>G) cDNAposition:233 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition ClinVarID:93326 ClinVarID:Yes Familial FamilyPedigree InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00432-008-0399-x
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
    2
    1. ClingenBaseline 21 Oct 2026
      7M–1c.233A > Gp.Asn78Ser11414––14, M14, B4

      PatientID: 7

      KindredID: 7

      Case: M, 14Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

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

      CaseHPOFreeText: The patient was found to have a CNS hemangioblastoma, retinal capillary hemangioma, multiple pancreatic cysts and bilateral renal cysts at age 14. MRI of the brain showed a tiny well-enhanced nodule at the cervicomedullary junction with an adjacent prominent vascular structure.

      CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Korean DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:14 DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeofPresentation:pancreaticcysts:14 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:14 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:14 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition NonFamilial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      7M–1c.233A > Gp.Asn78Ser11414––14, M14, B4

      PatientID: 7

      KindredID: 7

      Case: M, 14Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

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

      CaseHPOFreeText: The patient was found to have a CNS hemangioblastoma, retinal capillary hemangioma, multiple pancreatic cysts and bilateral renal cysts at age 14. MRI of the brain showed a tiny well-enhanced nodule at the cervicomedullary junction with an adjacent prominent vascular structure.

      CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Korean DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:14 DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeofPresentation:pancreaticcysts:14 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:14 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:14 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition NonFamilial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pheochromocytoma--analysis of 15 consecutive cases from one centre
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 1

      KindredID: 1

      Case: M, 68Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: None.

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

      CaseHPOFreeText: Patient was found observed to have retinal angioma (retinal capillary hemangioma) and a right kidney cortex cyst (30mm). Patient's pheochromocytoma was found incidentally and he remained asymptomatic with steady weight.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC and SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P25L (c.74C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93330 https://www.ncbi.nlm.nih.gov/clinvar/variation/93330/

      CAID: N/A

      gnomAD: 0.002988 https://gnomad.broadinstitute.org/variant/3-10183605-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P25L (c.74C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst AssumedRefSeq:NM_000551.3 cDNAposition:74 AminoAcidChange:PROtoLEU ProteinPosition:25 MutationType:missense_variant;transition ClinVarID:93330 ClinVarID:Yes PreviousTesting:RET/SDHB/SDHC/SDHD NoFamilyInfo CivicName:P25L(c.74C>T) inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 1

      KindredID: 1

      Case: M, 68Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: None.

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

      CaseHPOFreeText: Patient was found observed to have retinal angioma (retinal capillary hemangioma) and a right kidney cortex cyst (30mm). Patient's pheochromocytoma was found incidentally and he remained asymptomatic with steady weight.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC and SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P25L (c.74C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93330 https://www.ncbi.nlm.nih.gov/clinvar/variation/93330/

      CAID: N/A

      gnomAD: 0.002988 https://gnomad.broadinstitute.org/variant/3-10183605-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P25L (c.74C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst AssumedRefSeq:NM_000551.3 cDNAposition:74 AminoAcidChange:PROtoLEU ProteinPosition:25 MutationType:missense_variant;transition ClinVarID:93330 ClinVarID:Yes PreviousTesting:RET/SDHB/SDHC/SDHD NoFamilyInfo CivicName:P25L(c.74C>T) inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/23873422/
  6. link-springer-com.proxy1.lib.uwo.ca link-springer-com.proxy1.lib.uwo.ca
    VHL P25L is not a Pathogenic von Hippel-Lindau Mutation
    2
    1. ClingenBaseline 21 Oct 2026
      . Of the 13 individuals tested, V:2, IV:4, IV:6, III:2, III:3, and III:11 were all found to carry the P25L mutation in the VHL gene. With the exception of family member IV:2, none of these individuals reported any features characteristic of VHL disease.

      PatientID: III:11

      KindredID: 1

      Case: F, 75, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The patient's father (II:3) had a brain tumour at age 53 and died at age 78. The patient's paternal aunt (II:1) died of stomach cancer at age 80. The patient's paternal grandfather died at age 50 due to a brain tumour. The patient had seven siblings, five of whom underwent genetic testing. Two were found to carry the mutation but both were asymptomatic (patient III:2 and III:3). The patient's sister (III:2) had three children all of whom carried the P25L mutation and were asymptomatic (IV:4 and IV:6) except patient IV:2 who presented with a retinal hemangioma and renal cyst. Her niece, (IV:2) had three children and one was found to carry the mutation. The patient's brother (III:3) had six children one of whom died due to clear cell renal carcinoma at age 48 but did not carry the P25L mutation (IV:7). The patient had three unaffected children who did not carry the mutation. Of the 13 family members tested, V:2, IV:4, IV:6, III:3, and III:11 were all found to carry the P25L mutation in the VHL gene. Refer to Figure 1 for pedigree.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Ongoing clinical follow up of the individuals with P25L over a period of 5 years has continued to show no evidence of additional clinical involvement of VHL disease.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P25L (c.74C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93330 https://www.ncbi.nlm.nih.gov/clinvar/variation/93330/

      CAID: N/A

      gnomAD: 0.002988 https://gnomad.broadinstitute.org/variant/3-10183605-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName:P25L (c.74C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:P25L(c.74C>T) cDNAposition:74 ProteinPosition:25 AminoAcidChange:PROtoLEU ClinVarID:93330 MutationType:missense_variant;transition FamilyPedigree ClinVarID:Yes Familial inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      . Of the 13 individuals tested, V:2, IV:4, IV:6, III:2, III:3, and III:11 were all found to carry the P25L mutation in the VHL gene. With the exception of family member IV:2, none of these individuals reported any features characteristic of VHL disease.

      PatientID: III:11

      KindredID: 1

      Case: F, 75, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The patient's father (II:3) had a brain tumour at age 53 and died at age 78. The patient's paternal aunt (II:1) died of stomach cancer at age 80. The patient's paternal grandfather died at age 50 due to a brain tumour. The patient had seven siblings, five of whom underwent genetic testing. Two were found to carry the mutation but both were asymptomatic (patient III:2 and III:3). The patient's sister (III:2) had three children all of whom carried the P25L mutation and were asymptomatic (IV:4 and IV:6) except patient IV:2 who presented with a retinal hemangioma and renal cyst. Her niece, (IV:2) had three children and one was found to carry the mutation. The patient's brother (III:3) had six children one of whom died due to clear cell renal carcinoma at age 48 but did not carry the P25L mutation (IV:7). The patient had three unaffected children who did not carry the mutation. Of the 13 family members tested, V:2, IV:4, IV:6, III:3, and III:11 were all found to carry the P25L mutation in the VHL gene. Refer to Figure 1 for pedigree.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Ongoing clinical follow up of the individuals with P25L over a period of 5 years has continued to show no evidence of additional clinical involvement of VHL disease.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P25L (c.74C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93330 https://www.ncbi.nlm.nih.gov/clinvar/variation/93330/

      CAID: N/A

      gnomAD: 0.002988 https://gnomad.broadinstitute.org/variant/3-10183605-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName:P25L (c.74C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:P25L(c.74C>T) cDNAposition:74 ProteinPosition:25 AminoAcidChange:PROtoLEU ClinVarID:93330 MutationType:missense_variant;transition FamilyPedigree ClinVarID:Yes Familial inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link-springer-com.proxy1.lib.uwo.ca/article/10.1007/BF03256462
  7. 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
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 105

      KindredID: 105

      Case: Sex Unknown, 33Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history noted but no details provided.

      CasePresentingHPOs: HP:0000107; HP:0009711; HP:0010797; HP:0001732 (Renal cyst, Retinal capillary hemangioma, Hemangioblastoma, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma, pancreatic cyst or tumor, renal cystic lesion and retinal hemangioblastoma.

      CaseNotHPOs: HP:0006770; HP:0002666 (Clear cell renal cell carcinoma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.P86A (c.256C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93327, https://www.ncbi.nlm.nih.gov/clinvar/variation/93327/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst Mutation:Germline RefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) NoFamilyInfo Familial SupplementalData ExperimentalAssay inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 105

      KindredID: 105

      Case: Sex Unknown, 33Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history noted but no details provided.

      CasePresentingHPOs: HP:0000107; HP:0009711; HP:0010797; HP:0001732 (Renal cyst, Retinal capillary hemangioma, Hemangioblastoma, Abnormality of the pancreas)

      CaseHPOFreeText: CNS hemangioblastoma, pancreatic cyst or tumor, renal cystic lesion and retinal hemangioblastoma.

      CaseNotHPOs: HP:0006770; HP:0002666 (Clear cell renal cell carcinoma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.P86A (c.256C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93327, https://www.ncbi.nlm.nih.gov/clinvar/variation/93327/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst Mutation:Germline RefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) NoFamilyInfo Familial SupplementalData ExperimentalAssay inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
    2
    1. ClingenBaseline 21 Oct 2026

      KindredID: 21

      GroupID: 55

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no.21 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. Family history indicates that pheochromocytoma is not present in this kindred.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: No phenotypic information is listed for this kindred.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: Pheochromocytoma was not observed in any members of the affected patient(s)' family (VHL type 1).

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q195* (c.583C>T)

      LegacyVariant: c.796C>T (p.Q266*)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428794, https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q195* (c.583C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:583 ProteinPosition:195 AminoAcidChange:GLNtoTER ClinVarID:428794 ClinVarID:Yes MutationType:stop_gained CivicName:Q195*(c.583C>T) FamilyCohort inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      KindredID: 21

      GroupID: 55

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no.21 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. Family history indicates that pheochromocytoma is not present in this kindred.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: No phenotypic information is listed for this kindred.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: Pheochromocytoma was not observed in any members of the affected patient(s)' family (VHL type 1).

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q195* (c.583C>T)

      LegacyVariant: c.796C>T (p.Q266*)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428794, https://www.ncbi.nlm.nih.gov/clinvar/variation/428794/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q195* (c.583C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:583 ProteinPosition:195 AminoAcidChange:GLNtoTER ClinVarID:428794 ClinVarID:Yes MutationType:stop_gained CivicName:Q195*(c.583C>T) FamilyCohort inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7987306/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome
    2
    1. ClingenBaseline 21 Oct 2026
      2bF““““PPGL, HBA CNS/Ret, RCC, PanNET

      PatientID: 2b

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: An unspecified relative (proband - 2a) had the same mutation with renal cell carcinoma, hemangioblastoma, retinal capillary hemangioma, pancreatic cysts and pancreatic endocrine tumors.

      CasePresentingHPOs: HP:0005584; HP:0010797; HP:0009711; HP:0002668; HP:0030405 (renal cell carcinoma; hemangioblastoma; retinal capillary hemangioma; pancreatic cyst; pancreatic endocrine tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MEN1/ RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor PreviousTesting:RET RefSeq:NM_000551 ProteinPosition:78 cDNAposition:233 CivicName:N78S(c.233A>G) MutationType:missense_variant;transition AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes Familial inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      2bF““““PPGL, HBA CNS/Ret, RCC, PanNET

      PatientID: 2b

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: An unspecified relative (proband - 2a) had the same mutation with renal cell carcinoma, hemangioblastoma, retinal capillary hemangioma, pancreatic cysts and pancreatic endocrine tumors.

      CasePresentingHPOs: HP:0005584; HP:0010797; HP:0009711; HP:0002668; HP:0030405 (renal cell carcinoma; hemangioblastoma; retinal capillary hemangioma; pancreatic cyst; pancreatic endocrine tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MEN1/ RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor PreviousTesting:RET RefSeq:NM_000551 ProteinPosition:78 cDNAposition:233 CivicName:N78S(c.233A>G) MutationType:missense_variant;transition AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes Familial inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8440302/