5 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the vhl gene in patients presenting with phaeochromocytomas
    1
    1. ClingenBaseline 13 Nov 2026
      his nephew

      PatientID: 31

      KindredID: 2

      Case: M, 27Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s uncle (patient 34) was found to have the same variant, and had a malignant bilateral adrenal pheochromocytoma at age 31. The patient’s uncle was clinically diagnosed with VHL disease. The patient’s uncle died at an age of 46.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with a benign bilateral adrenal pheochromocytoma at age 24, and was originally diagnosed as a sporadic pheochromocytoma. This was later changed to a diagnosis of VHL disease through a retrospective screening.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R64P (c.191G>C)

      LegacyVariant: R64P (c.404G>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2226, https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R64P(c.191G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline cDNAposition:191 ProteinPosition:64 AminoAcidChange:ARGtoPRO ClinVarID:Yes ClinVarID:2226 MutationType:missense_variant;transversion CivicName:R64P(c.191G>C) Familial AgeOfPresentation:adrenalpheochromocytoma:24 DiseaseEntity:adrenalpheochromocytoma AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9663592/
  3. Nov 2026
  4. link.springer.com link.springer.com
    Somatic Mutation Analysis of the SDHB , SDHC , SDHD , and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: 11

      KindredID: 11

      Case: F, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient was found to have a single benign tumour 9 cm in size in her adrenal gland.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHC/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: The patient had LOH of SDHB as indicated in Table 1.

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma ageofpresentation:adrenalpheochromocytoma:24 Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 CivicName:Y98H(c.292T>C) cDNAposition:292 AminoAcidChange:TYRtoHIS ProteinPosition:98 ClinVarID:Yes PreviousTesting:RET/SDHB/SDHD/SDHC ClinVarID:2223 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s12672-012-0113-y
  5. Oct 2026
  6. link.springer.com link.springer.com
    Somatic Mutation Analysis of the SDHB , SDHC , SDHD , and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 15

      KindredID: 15

      Case: F, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient was found to have multiple benign tumour 7 cm in size in her adrenal gland.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHC/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178Q(c.533T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had LOH of SDHC as indicated in Table 1.

      MutationType: missense_variant;transversion

      CivicName: L178Q(c.533T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ageofpresentation:adrenalpheochromocytoma:24 DiseaseEntity:adrenalpheochromocytoma NoFamilyInfo PreviousTesting:RET/SDHB/SDHD/SDHC CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN ClinVarID:625260 ClinVarID:Yes MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s12672-012-0113-y
  7. erc.bioscientifica.com erc.bioscientifica.com
    Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways
    1
    1. ClingenBaseline 28 Oct 2026
      VHL_8Frozenc.500G>Ap.Arg167GlnF24AdrenalPCCB

      PatientID: VHL_8 (tumour ID)

      KindredID: 8

      Case: F, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal Pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at age 24.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500 G >A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant ageofpresentation:adrenalpheochromocytoma:24 DiseaseEntity:adrenalpheochromocytoma AssumedRefSeq:NM_000551.3 Mutation:Germline MutationType:missense_variant;transition CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/4/477.xml
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Late recurrence after surgical resection of a pancreatic tumor in von Hippel-Lindau disease
    1
    1. ClingenBaseline 25 Oct 2026
      The long clinical history of a 45-year-old woman started at 22 years of age when she had surgery for a right adrenal pheochromocytoma. Two years later, a pancreaticoduodenectomy was performed to remove a pancreatic mass which turned out to be a pancreatic neuroendocrine tumor. After a long period of relative wellness, 21 years after the surgical resection of her primary pancreatic neuroendocrine tumor, abdominal lymph node metastases of pancreatic neuroendocrine origin occurred. In fact, three abdominal nodules were removed by laparoscopic surgery, and the histological examination showed well-differentiated neuroendocrine tumors with similar immunohistochemical characteristics and Ki67 below 1%.

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 45Y0M, Italian

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Genetic analysis was performed on the patients relatives, including her daughter. Her 55Y0M brother had the same mutation but no clinical signs of VHL disease.

      CasePresentingHPOs: HP:0006748; HP:0030405 (adrenal pheochromocytoma, pancreatic neuroendocrine tumour)

      CaseHPOFreeText: At 22Y0M, she had surgery for a right adrenal pheochromocytoma. Two years later, a pancreatic oduodenectomy was performed to remove a pancreatic neuroendocrine tumor. 21 years later, abdominal lymph node metastases of the pancreatic neuroendocrine that was removed 21 years prior had occurred. Three abdominal nodules that were found to be neuroendocrine tumours immunohistochemical characteristics were removed. The patient’s clinical history suggested a hereditary endocrine syndrome.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T157I (c.470C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223223, https://www.ncbi.nlm.nih.gov/clinvar/variation/223223/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transition

      CivicName: T157I (c.470C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:adrenalpheochromocytoma:22 AgeOfPresentation:pancreaticendocrinetumor:24 CivicName:T157I(c.470C>T) cDNAPosition:470 ProteinPosition:157 AminoAcidChange:THRtoILE ClinVarID:223223 ClinVarID:Yes Familial Ethnicity:Italian inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/19734639/