22 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    5
    1. ClingenBaseline 26 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-14

      GroupID/ KindredID: 6

      Case: 46Y0M, F, Chinese

      DiseaseAssertion: hemangioblastoma

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

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      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:hemangioblastoma RefSeq:AF010238.1 ProteinPosition:78 CivicName:N78S(c.233A>G) cDNAposition:233 MutationType:missense_variant;transition AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes Mutation:Germline Ethnicity:Chinese InheritancePattern:AutosomalDominant Familial FamilyPedigree inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 26 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: II-4

      GroupID/ KindredID: 6

      Case: Age unknown (deceased), M, Chinese

      DiseaseAssertion: assumed VHL

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

      CasePresentingHPOs: HP:0005584; HP:0010797 (Renal cell carcinoma, hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711; HP:0001732; HP:0002666 (retinal capillary hemangioma, abnormality of the pancreas, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: No VHL gene test was conducted but due to substantial family pedigree history, can assumed with confidence this mutation

      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:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:VHL RefSeq:AF010238.1 ProteinPosition:78 AminoAcidChange:ASNtoSER cDNAposition:233 CivicName:N78S(c.233A>G) MutationType:missense_variant;transition ClinVarID:93326 ClinVarID:Yes Familial FamilyPedigree Mutation:Germline Ethnicity:Chinese InheritancePattern:AutosomalDominant inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 25 Oct 2026
      446A>G

      GroupID/ KindredID: 6

      DiseaseAssertion: assumed VHL; asymptomatic

      GroupSize: 22

      GroupNumberMales: 14

      GroupNumberFemales: 8

      GroupEthnicity: Chinese

      GroupAgeRange: N/A

      GroupInfo: With a family history, 22 family members were recorded in this group with the given mutation. 18 had VHL manifestations while 4 were asymptomatic carriers. See individual-case info by following GroupID/KindredID: 6

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

      GroupHPOFreeText: 12 family members had renal cell carcinoma, 10 had CNS hemangioblastomas, 5 had retinal hemangiomas, 7 had an abnormality of the pancreas (either cysts or a tumor), and 1 had a pheochromocytoma

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      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:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma RefSeq:AF010238.1 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition Familial ClinVarID:93326 Mutation:Germline Ethnicity:Chinese ClinVarID:Yes InheritancePattern:AutosomalDominant FamilyCohort FamilyPedigree inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. 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
    5. 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
  3. onlinelibrary-wiley-com.myaccess.library.utoronto.ca onlinelibrary-wiley-com.myaccess.library.utoronto.ca
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    2
    1. ClingenBaseline 25 Oct 2026

      PatientID: 152

      KindredID: 152

      Case: Sex Unknown, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666, HP:0010797, HP:0006770 (pheochromocytoma, hemangioblastoma, clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2, S3.

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: CA020131 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.233A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType:missense_variant;transition

      CivicName: N78S(c.233A>G)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst SupplementalData RefSeq:NM_000551.3 Mutation:Germline ClinVarID:93326 CAID:CA020131 CivicName:N78S(c.233A>G) NonFamilial AminoAcidChange:ASNtoSER ProteinPosition:78 cDNAposition:233 DiseaseEntity:pancreaticcysts ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026

      PatientID: 45

      KindredID: 45

      Case: Sex Unknown, 33Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0001737, HP:0010797 ( pancreatic cysts, hemangioblastoma)

      CaseHPOFreeText: N/A

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2, S3.

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

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

      CAID: CA020131 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.233A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType:missense_variant;transition

      CivicName: N78S(c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AminoAcidChange:ASNtoSER ProteinPosition:78 CivicName:N78S(c.233A>G) cDNAposition:233 NonFamilial SupplementalData Mutation:Germline ClinVarID:93326 CAID:CA020131 MutationType:missense_variant;transition DiseaseEntity:pancreaticcysts ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.myaccess.library.utoronto.ca/doi/full/10.1111/j.1469-1809.2011.00647.x
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A long-term survivor of metachronous liver metastases of pancreatic serous cystic neoplasm associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 25 Oct 2026
      Case presentationA 35-year-old woman with VHL underwent total pancreatectomy and right nephrectomy for pancreatic SCN and renal cell carcinoma, respectively. At the 4th year follow-up examination after the resection, contrast-enhanced computed tomography (CT) and gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) showed arterially hyper-enhanced neoplastic lesions in the segment VI and VIII of the liver. Partial resections of the liver were performed 53 months after the initial surgery. At the 6th month follow-up examination from the second surgery, one and two tumors located in the liver segment III, and VIII, respectively, were detected by contrast-enhanced CT and Gd-EOB-DTPA-enhanced MRI. Anterior segmentectomy and partial resection of the segment III were performed 66 months after the initial surgery and 13 months after the second, respectively. The tumors were pathologically diagnosed as liver metastases of pancreatic SCN synonymous with serous cystadenocarcinoma. She remains disease-free without recurrence 6.5 years after the last operation.

      PatientID: 1

      KindredID: 1

      Case: F, 47Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family history.

      CasePresentingHPOs: HP:0006880; HP:0002894; HP:0005584 (Cerebellar Hemangioblastoma; neoplasm of the pancreas; renal cell carcinoma)

      CaseHPOFreeText: At 35-year old, the female patient was diagnosed with VHL due to clinical presentation of pancreatic serous cystic neoplasm and renal cell carcinoma, and cerebellar hemangioblastomas that were surgically removed at age 21. The patient had underwent total pancreatectomy and right nephrectomy for pancreatic serous cystic neoplasm (SCN) and renal cell carcinoma (RCC), respectively. 4 years later, tumors in the liver were detected by CT scan and radiographically diagnosed as metasta-ses of the pancreatic SCN or RCC. Again, morphology and immunohistochemical findings of the resected tumors again were similar to the primary pancreatic SCN, thus diagnosed as multiple metachronous liver metastases of pancreatic SCN. As of 47Y, the patient has remained disease-free without any recurrence after the third operation.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21673464

      SupplementalData: N/A

      Variant: p.N78I (c.233A>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223169 https://www.ncbi.nlm.nih.gov/clinvar/variation/223169/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N78I (c.233A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:neoplasmofthepancreas AgeOfPresentation:neoplasmofthepancreas:35 AgeOfPresentation:cerebellarhemangioblastoma:21 AgeOfPresentation:renalcellcarcinoma:25 ClinVarID:223169 ClinVarID:Yes CivicName:N78I(c.233A>T) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoILE MutationType:missense_variant;transition NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8245617/
  5. www.spandidos-publications.com www.spandidos-publications.com
    p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees
    1
    1. ClingenBaseline 25 Oct 2026
      the proband (F1-II-1)

      PatientID: proband (F1-II-1)

      KindredID: 1

      Case: M, 31Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This proband had a 5-year-old asymptomatic son who carried the same mutation. The proband's brother (F1-II-3) was a 30 year-old who presented with multiple right renal masses, epididymal nodules and multiple pancreatic cysts. Histopathological analysis revealed right renal cell carcinoma with hemorrhagic cyst

      CasePresentingHPOs: HP:0002666, HP:0005584, HP:0009715 (pheochromocytoma, renal cell carcinoma, Papillary cystadenoma of the epididymis)

      CaseHPOFreeText: Ultrasound (US) and magnetic resonance imaging (MRI) scans confirmed single masses, multiple tumors and multiple cysts in the right adrenal glands, bilateral kidney and pancreas, respectively. Right pheochromocytoma and multiple right renal cell carcinomas were confirmed by histopathological examination. In 2012, the patient was diagnosed with bilateral epididymal head multiple nodules. Bilateral epididymal tubercle resection was performed and epididymal papillary adenoma was confirmed by histopathological examination.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

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

      CAID: CA020131

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 MutationType:missense_variant;transition CivicName:N78S(c.233A>G) PreviousTesting:RET AssumedRefSeq:NM_000551.3 cDNAposition:233 DiseaseEntity:pheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:papillarycystadenomaoftheepididymis FamilyPedigree CAID:CA020131 Familial ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    spandidos-publications.com/mmr/8/3/799
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 25 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 9YO, 51CE, 4327NCI, 160CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Department of Uroglogy, Yokohama database, the Munich, university of Freiburg and Institute of Pathology database, the National Cancer Institute database, and the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 9YO, 51CE, 4327NCI, 160CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

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

      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 RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:233 CivicName:N78S(c.233A>G) ProteinPosition:78 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition ClinVarID:93326 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Von Hippel—Lindau disease in twins: clinical and molecular study
    1
    1. ClingenBaseline 24 Oct 2026
      We report two young male twins with simultaneously manifesting haemangioblastomas of the right cerebellar hemisphere. In one, the neoplasm was associated with medullary and spinal cord solid tumours; in the other, with a nasopharyngeal bleeding fibroangioma, an association not described previously.

      PatientID: III-2

      KindredID: 1

      Case: M, 16Y0M, ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo:  2 young male twins were examined with the VHL gene mutation with simultaneously manifesting hemangioblastomas of the right cerebellar hemisphere. Both parents were examined with no VHL mutation, detecting a de novo mutation in the twins. A third sibling, two years older, presented with a cafè au lait skin spot. Grand mother had bilateral high myopia and glaucoma. The medical history of the pedigree shows that member (I-1) had severe hypertension and died at 60 from a stroke, member (I-2) died at 40 from ovarian carcinoma, and member (I-3) died at 54 from clinically diagnosed intracerebral haemorrhage.

      CasePresentingHPOs: HP:0006880; HP:0009713 (cerebellar hemangioblastoma, spinal hemangioblastoma)

      CaseHPOFreeText: in 1994 patient came complaining of blurred vision thought to be due to his myopia. MRI showed a large cyst and a 4.3 cm mural ovoid nodule in the right cerebellar hemisphere. Another small mural nodule was present in the infero-posterolateral portion of the right cerebellar hemisphere. CT disclosed a round homogeneous, hyperintense nodule at T1 in the spinal cord. Raised intracranial pressure due to the compression of aqueduct from the tumour accounted for hydrocephalus and enlarged lateral and 3rd ventricles.

      CaseNotHPOs: HP:0001901 (polycythemia)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      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: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion deNovoConfirmed DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:16 DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:16 Mutation:Germline RefSeq:AF010238.1 cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition ClinVarID:93326 ClinVarID:Yes Familial FamilyPedigree CivicName:N/A inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1111/j.1468-1331.1996.tb00276.x
  8. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    1
    1. ClingenBaseline 23 Oct 2026
      35 (45%) had missense variants

      PatientID: 7

      KindredID: 7

      Case: Age, Sex, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: patient was recorded with a CNS hemangioblastoma

      CaseNotHPOs: HP:0030421; HP:0006770; HP:0100634; HP:0030405; HP:0009711 (epididymal tumour, clear cell renal cell carcinoma, neuroendocrine neoplasm, pancreatic endocrine tumour, retinal capillary hemangioma)

      CaseNotHPOFreeText: patient was recorded without CCRCC, and a pheochromocytoma and/or paraganglioma (neuroendocrine neoplasm), pancreatic endocrine tumour (or pancreatic neuroendocrine neoplasm), and a retinal hemangioblastoma, or a epididymal tumor

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      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

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma RefSeq:NM_000551.3 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition SupplementalData Mutation:Germline NoFamilyInfo ClinVarID:93326 ClinVarID:Yes inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Retinal angiomatosis and von Hippel-Lindau disease
    1
    1. ClingenBaseline 23 Oct 2026

      GroupID: 10

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 41 non-related patients with retinal angiomatosis between 1988 and 1999 were evaluated.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      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

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma AssumedRefSeq:AF010238.1 CivicName:N78S(c.233A>G) AminoAcidChange:ASNtoSER ProteinPosition:78 cDNAposition:233 ClinVarID:93326 ClinVarID:Yes inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/11148816/
  10. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome
    1
    1. ClingenBaseline 22 Oct 2026
      4 Missense p.(Asn78Ser) 1 0

      GroupID: 4

      DiseaseAssertion: VHL

      Group size: 1

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      Group Info: Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and retinal haemangioblastomas. All patients were categorized in two genotypic categories: missense mutations and truncating mutations. 

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: The patient presented with retinal capillary hemangioma.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1

      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: Chr3(GRCh37): g.10183764A>G

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Familial DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma SupplementalData ClinVarID:Yes ClinVarID:93326 CivicName:N78S(c.233A>G) cDNAPosition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14360
  11. journals.lww.com journals.lww.com
    PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON... : RETINA
    1
    1. ClingenBaseline 22 Oct 2026
      detected point germline vhl mutations in 14 patients

      PatientID: 23

      KindredID: 23

      Case: 23Y0M, sex unknown, ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0030393; HP:0005584; HP:0009711 (hemangioblastoma; endolymphatic sac tumor; renal cell carcinoma; retinal capillary hemangioma)

      CaseHPOFreeText: See Table 1&2 for retinal capillary hemangioma information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78I (c.233A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223169 https://www.ncbi.nlm.nih.gov/clinvar/variation/223169/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N78I (c.233A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma MutationType:missense_variant;transversion cDNAposition:233 ProteinPosition:78 CivicName:N78I(c.233A>T) AminoAcidChange:ASNtoILE ClinVarID:Yes ClinVarID:223169 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    journals.lww.com/retinajournal/fulltext/2016/02000/pars_plana_vitrectomy_in_advanced_cases_of_von.13.aspx
  12. aacrjournals.org aacrjournals.org
    Coexpression of Erythropoietin and Erythropoietin Receptor in Von Hippel-Lindau Disease–Associated Renal Cysts and Renal Cell Carcinoma
    1
    1. ClingenBaseline 22 Oct 2026
      8 M c.446A>C (N78T) Bilateral Positive (CNS) Positive 

      PatientID: 8

      KindredID: 8

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000107; HP:0005584; HP:0010797; HP:0001737 (Renal cyst, Renal cell carcinoma, Hemangioblastoma, Pancreatic cysts)

      CaseHPOFreeText: Bilateral RCC and renal cysts, CNS hemangioblastoma, positive for pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.N78T (c.233A>C)

      LegacyVariant: c.446A>C (N78T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223168, https://www.ncbi.nlm.nih.gov/clinvar/variation/223168/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant is declared as “c.446A>C (N78T)” by the authors, this was treated as a legacy variant and mapped to c.233A>C, N78T. This study found coexpression of Epo and EpoR in 11 RCCs and in 10 benign renal cysts in a spectrum of VHL renal disease suggesting that Epo/EpoR coexpression is present in both benign and malignant stages of renal neoplasia. Six benign cysts stained for Epo but not EpoR. The researchers detected loss of heterozygosity of a wild-type VHL allele in different RCCs with microsatellite markers, D3S1110 and D3S2452, flanking the VHL gene

      MutationType: missense_variant;transition

      CivicName: N78T (c.233A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551 cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoTHR ClinVarID:223168 MutationType:missense_variant;transition CivicName:N78T(c.233A>C) NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    aacrjournals.org/clincancerres/article/11/3/1059/186645/Coexpression-of-Erythropoietin-and-Erythropoietin
  13. onlinelibrary-wiley-com.proxy1.lib.uwo.ca onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease
    1
    1. ClingenBaseline 22 Oct 2026
      A 15-year-old male with isolated left-sided hearing loss for more than 3 months was referred to the department of otorhinolaryngology with the suspected diagnosis of cholesteatoma. A computed tomography (CT) scan of the temporal bone, showing osseous destructions in the area of the jugular foramen but relatively little affection of the middle ear, had been performed prior to referral (Fig. 1). The patient had no vertigo, pain, or otorrhea, and the auditory canal and tympanic membrane appeared normal. For further evaluation, pure-tone audiometry showing a 40 to 75 dB conductive hearing loss over all frequencies, tympanometry showing a flat curve, and magnetic resonance imaging (MRI) of the temporal bone were performed. The first MRI images showed a lesion with polycyclic borders and osseo-destructive components in the left temporal bone.

      PatientID: None

      KindredID: 1

      Case: M, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: The patient had isolated left-sided hearing loss for more than 3 months. MRI showed a highly enhancing mass in the left temporal bone in the region of the jugular foramen, that measured 3.4 × 2.3 × 3.3 cm and exhibited a salt and pepper pattern in some areas. Definite histology confirmed ELST, and because a radical resection could not be guaranteed due to the highly infiltrative growth of the tumor, postoperative stereotactic radiation was initiated. The patient also had angiomatous lesions of the nasal and pharyngeal mucosa.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: The patient was screened for other VHL-associated tumors by fundoscopy and whole body positron-emission tomography-computed tomography, which did not show any pathological findings.

      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 DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor AgeOfPresentation:endolymphaticsactumor:15 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 NonFamilial MutationType:missense_variant;transition inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/10.1002/lary.23438
  14. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 22 Oct 2026

      GroupID/ KindredID: VHL 51

      DiseaseAssertion: assumed VHL

      GroupSize: 6

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      GroupInfo: 6 patients with the given mutation belonging to VHL family 51

      GroupPresentingHPOs: HP:0010797; HP:0009715 (hemangioblastoma, Papillary cystadenoma of the epididymis)

      GroupHPOFreeText: CNS hemangioblastomas found in all 6 members of this cohort, and epididimal cystadenomas found in 4 members.

      GroupNotHPOs: GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

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

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

      CAID: CA020131 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.233A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      Mutation:Germline RefSeq:AF010238.1 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER MutationType:missense_variant;transition Familial CAID:CA020131 ClinVarID:93326 DiseaseEntity:VHL DiseaseEntity:papillarycystadenomaoftheepididymis DiseaseEntity:hemangioblastoma Ethnicity:German InheritancePattern:AutosomalDominant ClinVarID:Yes FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s004390050206
  15. 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/
  16. 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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    ncbi.nlm.nih.gov/pmc/articles/PMC8440302/