2 Matching Annotations
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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: 1

      KindredID: 1

      Case: F, 39Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 55 patients treated at Asan Medical Center in Korea treated between January 1995 and February 2013 clinically diagnosed with VHL disease and presenting with pancreatic lesions.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: The patient had a neuroendocrine tumour in the pancreas at age 37. A Pylorus-preserving pancreaticoduodenectomy was performed and the largest tumour resected was 24 mm. The patient was followed up 27.7 months later.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E70K (c.208G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43598 https://www.ncbi.nlm.nih.gov/clinvar/variation/43598

      CAID: N/A

      gnomAD: 0.000004365 https://gnomad.broadinstitute.org/variant/3-10183739-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName:E70K (c.208G>A)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL Ethnicity:Korean NoFamilyInfo DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:37 cDNAposition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS ClinVarID:43598 ClinVarID:Yes CivicName:E70K(c.208G>A) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25562111/
  3. 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 31 Oct 2026

      PatientID: 29

      KindredID: 19

      Case: F, 37Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: 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:0009711; HP:0001737; HP:0030405 (Pheochromocytoma, Renal cell carcinoma, Pancreatic cysts, Pancreatic endocrine tumor)

      CaseHPOFreeText: Unilateral pheochromocytoma. Metastasis found at age 37. Cause of death: metastatic PNET.

      CaseNotHPOs: HP:0010797; HP:0002668; HP:0005584 (Hemangioblastoma, Paraganglioma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 1 Deletion (c.1-?_340+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 1 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:20 AgeOfPresentation:pancreaticcysts:20 AgeOfPresentation:renalcellcarcinoma:20 AgeOfPresentation:pancreaticendocrinetumor:37 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant CivicName:Exon1Deletion UnregisteredVariant NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/