18 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
    4
    1. ClingenBaseline 09 Nov 2026
      4

      PatientID: Unknown

      KindredID: 4

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 3 members of this family were found to have the mutation and pheochromocytoma. Other declared diseases in this family are: hemangioblastoma, parathyroid nodule, and esophageal carcinoma but the presenting patient is unclear. Relationship between these family members is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666; HP:0002668 (Pheochromocytoma)

      CaseHPOFreeText: Follow-up 25 years later but it is unclear if this pertained to all affected family members. VHL type 2C.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 09 Nov 2026
      Figure 1.

      PatientID: III:8

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Look to proband (III:3) for extensive family info.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) DiseaseEntity:Asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 08 Nov 2026
      2

      PatientID: Unknown

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 5 members of this family were found to have the mutation and pheochromocytoma. Other declared diseases in this family are: paraganglioma, hemangioblastoma, lung metastases and spinal hemangioblastoma but the presenting patient is unclear.Relationship between these family members is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Follow-up 18 years later but it is unclear if this pertained to all affected family members.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 05 Nov 2026
      The proband of family 1 (III:3; Fig. 1a), a 32-year-old woman, was diagnosed with a normetanephrine-secreting, 5-cm right PHEO with no other clinical features of VHL disease.

      PatientID: III:3

      KindredID: 1

      Case: F, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Her paternal grandfather (I:1) had been diagnosed with an adrenal tumor and hypertension in his 40s. In addition, four other relatives developed unilateral PHEOs: her father (II:1) at age 73, her 34-year-old brother (III:2), her paternal aunt in her 40s (II:4), and the aunt’s 12-year-old son (III:7). Subsequently, the son of III.7 (IV:3) was also diagnosed with PHEOs at 23 years of age. All affected individuals underwent adrenalectomy and remain asymptomatic, 1 to 30 years after surgery. In addition, a renal cyst was detected in individual III.2 at the time of the PHEO diagnosis, whereas II.1 developed multiple spinal cord hemangioblastomas after the adrenal tumor resection. No RCCs were diagnosed. Other declared diseases in this family are: thyroid nodule and bladder carcinoma but the presenting patient is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Diagnosed with a normetanephrine-secreting, 5-cm right PHEO with no other clinical features of VHL disease.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:32 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6660912/
  3. www.sciencedirect.com www.sciencedirect.com
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    2
    1. ClingenBaseline 09 Nov 2026
      F12c.414A>G/WTVHL p.Pro138Pro/WTNNNNVHL disease—

      PatientID: II (daughter)

      KindredID: F12

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 4 members of this family (I.mother, II.daughter, II.son, III.granddaughter) presented with pheochromocytoma and were found to have the P138= (c.414A>G) germline variant of the VHL gene.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; synonymous_variant

      CivicName: P138= (c.414A>G)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition MutationType:synonymous_variant CivicName:P138=(c.414A>G) FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026
      F12c.414A>G/WTVHL p.Pro138Pro/WTNNNNVHL disease—

      PatientID: II (son)

      KindredID: F12

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 4 members of this family (I.mother, II.daughter, II.son, III.granddaughter) presented with pheochromocytoma and were found to have the P138= (c.414A>G) germline variant of the VHL gene.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; synonymous_variant

      CivicName: P138= (c.414A>G)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition MutationType:synonymous_variant CivicName:P138=(c.414A>G) FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    sciencedirect.com/science/article/pii/S0006497120320206
  4. Nov 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
    2
    1. ClingenBaseline 01 Nov 2026
      unilateral PHEOs (Fig. 1a): her father (II:1) at age 73, her 34-year-old brother (III:2), her paternal aunt in her 40s (II:4), and the aunt’s 12-year-old son (III:7)

      PatientID: III:7

      KindredID: 1

      Case: M, 12Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Look to proband (III:3) for extensive family info.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Unilateral pheochromocytoma diagnosed at age 12.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:12 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 01 Nov 2026
      Figure 1.

      PatientID: III:5

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Look to proband (III:3) for extensive family info.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) DiseaseEntity:Asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6660912/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
    1
    1. ClingenBaseline 01 Nov 2026
      c.414A>G, p.Pro138Pro

      PatientID: 12

      KindredID: 9

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family information provided.

      CasePresentingHPOs: HP:0002666; HP:0002668 (Pheochromocytoma; paraganglioma)

      CaseHPOFreeText: Patient had pheochromocytoma and/or paraganglioma (table 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: synonymous_variant

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:synonymous_variant RefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma cDNAPosition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:Yes ClinVarID:223206 NoFamilyInfo CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8394264/
  7. Oct 2026
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
    6
    1. ClingenBaseline 31 Oct 2026
      2

      PatientID: Unknown

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 5 members of this family were found to have the mutation and pheochromocytoma. Other declared diseases in this family are: paraganglioma, hemangioblastoma, lung metastases and spinal hemangioblastoma but the presenting patient is unclear.Relationship between these family members is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Follow-up 18 years later but it is unclear if this pertained to all affected family members.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 31 Oct 2026
      4

      PatientID: Unknown

      KindredID: 4

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 3 members of this family were found to have the mutation and pheochromocytoma. Other declared diseases in this family are: hemangioblastoma, parathyroid nodule, and esophageal carcinoma but the presenting patient is unclear. Relationship between these family members is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Follow-up 25 years later but it is unclear if this pertained to all affected family members. VHL type 2C.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 25 Oct 2026
      4

      PatientID: Unknown

      KindredID: 4

      Case: M, 20Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This is the proband. 3 members of this family were found to have the mutation and pheochromocytoma. Other declared diseases in this family are: hemangioblastoma, parathyroid nodule, and esophageal carcinoma but the presenting patient is unclear. Relationship between these family members is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Follow-up 25 years later but it is unclear if this pertained to all affected family members. Pheochromocytoma diagnosed at age 20. VHL type 2C.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:20 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    4. ClingenBaseline 25 Oct 2026
      2

      PatientID: Unknown

      KindredID: 2

      Case: Sex Unknown, 53Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This is the proband. 5 members of this family were found to have the mutation and pheochromocytoma. Other declared diseases in this family are: paraganglioma, hemangioblastoma, lung metastases and spinal hemangioblastoma but the presenting patient is unclear.Relationship between these family members is unclear.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Follow-up 18 years later but it is unclear if this pertained to all affected family members.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:53 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    5. ClingenBaseline 25 Oct 2026
      unilateral PHEOs (Fig. 1a): her father (II:1) at age 73, her 34-year-old brother (III:2)

      PatientID: III:2

      KindredID: 1

      Case: M, 34Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Look to proband (III:3) for extensive family info.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666; HP:0000107 (Pheochromocytoma, Renal cyst)

      CaseHPOFreeText: Unilateral pheochromocytoma diagnosed at age 34.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst AgeOfPresentation:pheochromocytoma:34 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    6. ClingenBaseline 24 Oct 2026
      Figure 1.

      PatientID: II:5

      KindredID: 1

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Look to proband (III:3) for extensive family info.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) DiseaseEntity:Asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6660912/
  9. www.nature.com www.nature.com
    Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective study
    1
    1. ClingenBaseline 31 Oct 2026
      The p.(Pro138Pro) variant was identified in a patient with a family history of VHL disease and was functionally validated by mRNA analysis, which showed a splicing alteration (data not shown)

      PatientID: 85

      KindredID: 85

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history of VHL but no details provided.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Patient information pulled from Supplemental Table 1. There is additional tumour specific information in Supplemental Table 2.

      Variant: p.P138P (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Functionally validated by mRNA analysis, which showed a splicing alteration (data not shown). Membrane CA9 immunostaining was observed (supplemental table 1).

      MutationType: missense_variant;transition; synonymous_variant

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition MutationType:synonymous_variant CivicName:P138=(c.414A>G) Familial SupplementalData inferred_gene_hgnc:11998 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nature.com/articles/s41379-019-0343-4
  10. www.sciencedirect.com www.sciencedirect.com
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    1
    1. ClingenBaseline 29 Oct 2026
      F12c.414A>G/WTVHL p.Pro138Pro/WTNNNNVHL disease—

      PatientID: I (mother)

      KindredID: F12

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 4 members of this family (I.mother, II.daughter, II.son, III.granddaughter) presented with pheochromocytoma and were found to have the P138= (c.414A>G) germline variant of the VHL gene.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; synonymous_variant

      CivicName: P138= (c.414A>G)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition MutationType:synonymous_variant CivicName:P138=(c.414A>G) FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S0006497120320206
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study
    1
    1. ClingenBaseline 28 Oct 2026
      87VHLE2c.414A>Gp.P138PPP30946460M363622NoPCC2.3No

      PatientID: 87

      KindredID: 87

      Case: M, 38Y0M, Chinese (East Asian)

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: No family history.

      CasePresentingHPOs: Pheochromocytoma (HP:0002666)

      CaseHPOFreeText: Pheochromocytoma symptomatic and diagnosed at age 36Y, 2.3cm in size. 2 years later he underwent PPGL genetic testing.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138P (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206 https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Described as a pathogenic variant, according to the ACMG guidelines at the time of publication.

      MutationType: synonymous_variant; missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 Ethnicity:Chinese Ethnicity:EastAsian DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:36 NonFamilial ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition ProteinPosition:138 AminoAcidChange:PROtoPRO cDNAposition:414 CivicName:P138=(c.414A>G) MutationType:synonymous_variant PreviousTesting:MAX/RET/NF1/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7761866/