2 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. Oct 2026
  4. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026
      031Fnt 713 G to A, Arg to GlnP, 13488

      PatientID: 40

      KindredID: 3488

      Case: F, 31Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)

      CaseHPOFreeText: She presented with one pathologic pancreatic endocrine tumour.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: p.R167Q (c.713G>A)

      CaseProblemVariantFreeText: N/A

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

      CAID: CA020454 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.500G%3EA

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

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:31 Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:AF010238.1 cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 CAID:CA020454 NoFamilyInfo CivicName:R167Q(c.500G>A) ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0039606000070100