4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: 25

      KindredID: 15

      Case: F, 31Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: Has relevant family history but details are not made available.

      CohortInfo: This retrospective study was conducted at Department of Endocrinology of a tertiary care health centre in Western India. Patients presented to our institute between 2008 and 2016 were included in the study. During the study period a total of 33 patients were suspected to have VHL syndrome based on clinical features among whom 31 patients were found to have mutation in VHL gene. All patients are of Asian Indian descent.

      CasePresentingHPOs: HP:0002666; HP:0010797; HP:0001737; HP:0030405 (Pheochromocytoma, Hemangioblastoma, Pancreatic endocrine tumor)

      CaseHPOFreeText: Unilateral pheochromocytoma.

      CaseNotHPOs: HP:0005584; HP:0002668; HP:0009711; HP:0001737 (Renal cell carcinoma, Paraganglioma, Retinal capillary hemangioma, Pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160, https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:31 AgeOfPresentation:hemangioblastoma:31 AgeOfPresentation:pancreaticendocrinetumor:31 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER ClinVarID:219160 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Y98S(c.293A>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 104

      KindredID: 35

      Case: F, 28Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband, patient 104, presented with multiple pancreatic cysts/tumors at age 27. Their sister, patient 105 presented with pancreatic cysts/tumors at age 28. Their mother presented with a CNS hemangioblastoma at 45 but passed away before diagnosis/genetic testing.

      CasePresentingHPOs: HP:0001737; HP:0001732 (Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The proband's sister presented with multiple pancreatic cysts/tumors at age 28.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160; https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:28 AgeOfPresentation:abnormalityofthepancreas:28 MutationType:missense_variant;transversion ClinVarID:219160 ClinVarID:Yes cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER CivicName:Y98S(c.293A>C) Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  4. Oct 2026
  5. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 28 Oct 2026
      15M/12FSUnilateral PCC+sPGLRenal and pancreatic cystsFamily history+VHL1c.293A>C (Novel)p.(Tyr98Ser)Substitution (missense)Disease causing

      PatientID: 15

      KindredID: 15

      Case: M, 12Y0M, Asian Indian

      DiseaseAssertion: assumed VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0002666; HP:0002668; HP:0000107; HP:0001737 (pheochromocytoma; paraganglioma; renal cyst; pancreatic cysts)

      CaseHPOFreeText: unilateral pheochromocytoma with sympathetic paraganglioma. Renal and pancreatic cysts

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 219160 https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts CivicName:Y98S(c.293A>C) cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER MutationType:missense_variant;transversion ClinVarID:219160 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/175/4/311.xml
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: 10

      KindredID: 4

      Case: F, 40Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: 2 other members of this family presented with the same variant. Patient 9 (Gen 2) and bilateral pheochromocytoma and sympathetic paraganglioma and PNET. Another member of the family (relation unclear) presented with the same variant and bilateral pheochromocytoma and sympathetic paraganglioma, retinal angioma, neural hemangioblastomas and PNET.

      CohortInfo: This retrospective study was conducted at Department of Endocrinology of a tertiary care health centre in Western India. Patients presented to our institute between 2008 and 2016 were included in the study. During the study period a total of 33 patients were suspected to have VHL syndrome based on clinical features among whom 31 patients were found to have mutation in VHL gene. All patients are of Asian Indian descent.

      CasePresentingHPOs: HP:0002666; HP:0030405 (Pheochromocytoma, Pancreatic endocrine tumor)

      CaseHPOFreeText: Unilateral pheochromocytoma. Cause of death: metastatic PNET.

      CaseNotHPOs: HP:0009711; HP:0010797; HP:0001737; HP:0005584; HP:0002668 (Retinal capillary hemangioma, Hemangioblastoma, Pancreatic cysts, Renal cell carcinoma, Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160, https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:40 AgeOfPresentation:pancreaticendocrinetumor:40 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER ClinVarID:219160 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Y98S(c.293A>C) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/